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Psychiatric Disorders Dataset – Mental Health & Behavioral Conditions
Psychiatric Disorders Dataset
The Psychiatric Disorders Dataset is a structured medical database containing a comprehensive list of mental health and behavioral conditions.
Psychiatric disorders affect mood, thinking, and behavior, and include a wide range of conditions such as depression, anxiety disorders, schizophrenia, and personality disorders. These conditions are a major focus of mental health research, clinical psychology, and public health initiatives.
This dataset provides organised information about psychiatric disorders, helping researchers, developers, and healthcare professionals analyse symptoms, severity, and treatment approaches.
Each record includes detailed clinical information such as disorder descriptions, affected psychological or neurological systems, common symptoms, severity levels, and typical management strategies.
The dataset has been cleaned and structured for easy integration into spreadsheets, databases, and analytical tools.
It is ideal for mental health researchers, healthcare developers, educators, and data scientists working with psychiatric and behavioral health data.
Dataset Contents
The dataset includes fields such as:
- Disorder Name
- Description
- Affected System (Psychological / Neurological)
- Common Symptoms
- Severity Level
- Disorder Category
- Risk Factors
- Treatment / Management
Example Conditions Included
- Major Depressive Disorder
- Generalized Anxiety Disorder
- Bipolar Disorder
- Schizophrenia
- Obsessive-Compulsive Disorder (OCD)
- Post-Traumatic Stress Disorder (PTSD)
- Personality Disorders
- Eating Disorders
- Panic Disorder
- Attention Deficit Hyperactivity Disorder (ADHD)
...and many more psychiatric conditions.
Data Preview
17 columns
25 rows shown
| ID | Disease Name | Category | Prevalence | Inheritance Pattern | Affected Gene(s) | Chromosome Location | Key Symptoms | Typical Age of Onset | Diagnosis Methods | Available Treatments | Orphan Drug Designation | ICD-10 Code | OMIM Number | Affected System | Disease Severity | Life Expectancy Impact | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 | Neuroleptic Malignant Syndrome (NMS) | Psychiatric Emergency | 0.01-3.2% of patients exposed to antipsychotics (approximately 1-2% incidence); ~2,000 cases/year in US | Not inherited (idiosyncratic drug reaction); possible genetic susceptibility via dopamine D2 receptor polymorphisms | DRD2 (susceptibility), RYR1 (in rare overlap with malignant hyperthermia) | 11q23 (DRD2); 19q13.2 (RYR1) | Tetrad: hyperthermia (>38°C), severe muscle rigidity ('lead-pipe'), autonomic instability (labile BP, tachycardia, diaphoresis), altered mental status; elevated CK (>1000 U/L), leukocytosis, metabolic acidosis | Any age; typically within 2 weeks of initiating or increasing dopamine antagonist | Clinical diagnosis per DSM-5-TR criteria; CK elevation; exclusion of infection, heat stroke, malignant hyperthermia, serotonin syndrome, malignant catatonia | Immediate discontinuation of offending agent; supportive care (cooling, IV fluids, electrolyte correction, ICU monitoring); dantrolene (Dantrium) for severe rigidity/hyperthermia; bromocriptine or amantadine (dopamine agonists); benzodiazepines (lorazepam); ECT for refractory cases | No | G21.0 | N/A | Central and peripheral nervous system, autonomic, musculoskeletal | Life-threatening | Mortality 5-10% with treatment (historically 20-30%); full recovery typical if recognized early |
| 2 | 2 | Serotonin Syndrome | Psychiatric Emergency | Incidence rising with SSRI/SNRI use; ~15% of SSRI overdoses develop symptoms; underreported | Not inherited (drug-drug interaction); CYP2D6 poor metabolizer status may increase risk | CYP2D6, CYP3A4 (pharmacogenetic risk), SLC6A4 (serotonin transporter) | 22q13.2 (CYP2D6); 7q11.2 (CYP3A4); 17q11.2 (SLC6A4) | Hunter Criteria triad: neuromuscular hyperactivity (clonus, hyperreflexia, tremor - lower limbs > upper), autonomic hyperactivity (hyperthermia, tachycardia, diaphoresis, mydriasis), altered mental status (agitation, confusion) | Any age; onset within 24 hours (often within 6 hours) of serotonergic agent or dose change | Hunter Serotonin Toxicity Criteria (preferred); Sternbach criteria; exclusion of NMS, anticholinergic toxicity, malignant hyperthermia; medication history essential | Immediate discontinuation of serotonergic agents; supportive care (IV fluids, cooling, benzodiazepines for agitation/clonus); cyproheptadine (5-HT2A antagonist) for moderate-severe cases; intubation/paralysis for severe hyperthermia; avoid antipyretics, dantrolene, bromocriptine | No | G90.81 | N/A | Central and autonomic nervous system, neuromuscular | Life-threatening in severe cases; typically mild-moderate | Resolves within 24-72 hours with treatment; mortality <1% with recognition; severe cases may require ICU |
| 3 | 3 | Malignant Catatonia | Psychiatric Emergency | Rare; ~0.07-0.5 per 100,000; historically up to 10% of catatonia cases | Not inherited; can occur in any catatonic patient; genetic vulnerability to mood/psychotic disorders may contribute | Unknown; possible GABA-A receptor dysfunction | N/A | Catatonic features (stupor, mutism, posturing, rigidity, negativism, waxy flexibility) PLUS hyperthermia, autonomic instability, altered consciousness; elevated CK; may progress from simple catatonia | Any age; often abrupt onset over days | Bush-Francis Catatonia Rating Scale (≥2 of 14 signs); DSM-5-TR catatonia criteria; lorazepam challenge test; exclusion of NMS (often clinically indistinguishable) | High-dose lorazepam (Ativan) 8-24+ mg/day (first-line); ECT (definitive treatment, bilateral, frequent sessions) - treatment of choice; avoid antipsychotics (may worsen); supportive ICU care; NMDA antagonists (amantadine, memantine) in refractory cases | No | F06.1 | N/A | Central nervous system, autonomic, musculoskeletal | Life-threatening | Untreated mortality ~50%; with ECT/lorazepam, mortality ~9%, complete remission ~58% |
| 4 | 4 | Catatonia Associated with Another Mental Disorder | Psychiatric Emergency | Present in ~10% of acute psychiatric admissions; 20% of mood disorder, 10-15% of schizophrenia admissions | Not inherited directly; associated with underlying mood/psychotic disorder heritability | Associated with underlying disorder genetics | N/A | DSM-5-TR: ≥3 of 12 features - stupor, catalepsy, waxy flexibility, mutism, negativism, posturing, mannerisms, stereotypies, agitation, grimacing, echolalia, echopraxia | Any age; most common in young adults with mood/psychotic disorders | Bush-Francis Catatonia Rating Scale; DSM-5-TR diagnostic criteria; lorazepam challenge (2 mg IV/IM - rapid improvement is diagnostic); treat underlying disorder | Lorazepam (Ativan) first-line (6-24 mg/day); ECT (second-line or first-line if severe); treat underlying psychiatric disorder; avoid first-generation antipsychotics (risk of NMS) | No | F06.1 | N/A | Central nervous system, psychomotor | Moderate-severe; can progress to malignant catatonia | Generally good with prompt treatment; 70-80% respond to lorazepam; ECT effective in refractory cases |
| 5 | 5 | Catatonic Disorder Due to Another Medical Condition | Psychiatric Emergency | Accounts for 20-39% of catatonia cases; rising recognition with autoimmune encephalitis | Not inherited; secondary to underlying medical condition | Variable; depends on underlying etiology (e.g., NMDAR, LGI1 antibodies) | N/A | Catatonic features (DSM-5-TR: ≥3 of 12) directly attributable to medical condition (e.g., encephalitis, metabolic, endocrine, neoplastic, infectious) | Any age; depends on underlying condition | DSM-5-TR criteria; identification of underlying medical cause (neuroimaging, CSF analysis, autoimmune encephalitis panel, metabolic workup, EEG); Bush-Francis Scale | Treat underlying medical condition; lorazepam for symptomatic relief; ECT if refractory; immunotherapy if autoimmune (IVIG, steroids, rituximab, plasmapheresis); avoid antipsychotics | No | F06.1 | N/A | Central nervous system (secondary to underlying condition) | Variable; depends on underlying condition | Depends on underlying etiology; autoimmune causes have good prognosis with treatment |
| 6 | 6 | Acute Dystonic Reaction (Antipsychotic-Induced) | Psychiatric Emergency | 2-10% of patients on first-generation antipsychotics; higher in young males; ~90% occur within 5 days of starting/increasing dose | Not inherited; risk factors include young age, male sex, high-potency D2 antagonists | DRD2 polymorphisms, CYP2D6 variants | 11q23 (DRD2); 22q13.2 (CYP2D6) | Acute sustained muscle contractions: torticollis, oculogyric crisis, retrocollis, opisthotonos, trismus, laryngospasm (potentially fatal), oromandibular dystonia, tongue protrusion | Any age; within hours to 5 days of antipsychotic initiation/dose increase | Clinical diagnosis; temporal association with dopamine antagonist; DSM-5-TR criteria for medication-induced acute dystonia | Anticholinergic agents: benztropine (Cogentin) 1-2 mg IM/IV, diphenhydramine (Benadryl) 25-50 mg IM/IV (first-line, dramatic relief within minutes); reduce/switch antipsychotic; prophylactic anticholinergics in high-risk patients | No | G24.02 | N/A | Musculoskeletal, central nervous system (basal ganglia) | Mild-moderate (laryngeal involvement potentially life-threatening) | Resolves rapidly (minutes-hours) with anticholinergic treatment; no long-term sequelae if treated |
| 7 | 7 | Akathisia (Antipsychotic-Induced) | Psychiatric Emergency | 20-35% of patients on first-generation antipsychotics; 5-15% on second-generation; associated with increased suicidality | Not inherited; idiosyncratic drug reaction | DRD2, HTR2A polymorphisms (possible susceptibility) | 11q23 (DRD2); 13q14.2 (HTR2A) | Subjective restlessness/inner tension with observable repetitive movements (pacing, rocking, shifting, leg crossing, inability to sit still); dysphoria, agitation; may increase suicide risk | Any age; within days to weeks of antipsychotic initiation or dose increase | Clinical assessment using Barnes Akathisia Rating Scale (BARS); DSM-5-TR criteria for medication-induced acute akathisia | Reduce/discontinue offending agent; propranolol (Inderal) 30-120 mg/day (first-line); benzodiazepines (lorazepam, clonazepam); mirtazapine 15 mg; anticholinergics less effective than for dystonia; 5-HT2A antagonists | No | G25.71 | N/A | Central nervous system, motor | Mild-moderate; significant distress; suicide risk | Typically resolves with dose reduction or discontinuation; may become chronic/tardive in some cases |
| 8 | 8 | Tardive Dyskinesia | Psychiatric Emergency | ~20-30% of patients on chronic first-generation antipsychotics; 13-20% with second-generation; 500,000-700,000 affected in US | Not inherited; cumulative antipsychotic exposure-dependent; genetic susceptibility (DRD3, CYP2D6) | DRD3 (Ser9Gly), CYP1A2, CYP2D6, MnSOD polymorphisms | 3q13.31 (DRD3); 15q24.1 (CYP1A2); 22q13.2 (CYP2D6) | Involuntary choreoathetoid movements of face, tongue, lips, jaw (orobuccolingual), trunk, extremities; lip smacking, tongue protrusion, chewing, grimacing; persists or emerges after drug withdrawal | Typically after ≥3 months of exposure (≥1 month if ≥60 years old); may emerge with dose reduction | DSM-5-TR criteria; Abnormal Involuntary Movement Scale (AIMS); temporal relationship to antipsychotic exposure ≥3 months | Valbenazine (Ingrezza) - first FDA-approved TD treatment (April 2017); Deutetrabenazine (Austedo) - FDA-approved August 2017; both VMAT2 inhibitors; discontinue/switch to clozapine or quetiapine; avoid anticholinergics (may worsen); ginkgo biloba, amantadine as adjuncts | No | G24.01 | N/A | Central nervous system (basal ganglia), motor | Moderate; often persistent/irreversible | Often persistent even after drug withdrawal; VMAT2 inhibitors provide significant symptom reduction; ~50% achieve partial remission |
| 9 | 9 | Tardive Dystonia | Psychiatric Emergency | 1-4% of patients on chronic antipsychotics; more common in young males; less common than TD | Not inherited; chronic dopamine antagonist exposure | Unknown susceptibility genes | N/A | Sustained, often painful involuntary muscle contractions causing twisting/abnormal postures; commonly affects neck (retrocollis), trunk, limbs; can be focal, segmental, or generalized; persistent after drug withdrawal | After months to years of antipsychotic exposure; younger patients at higher risk | Clinical diagnosis; temporal relationship to chronic neuroleptic exposure; exclusion of primary dystonia; DSM-5-TR criteria | VMAT2 inhibitors (valbenazine, deutetrabenazine, tetrabenazine); high-dose anticholinergics (may help unlike in TD); botulinum toxin injections for focal dystonia; deep brain stimulation (GPi) for severe refractory cases; clozapine switch | No | G24.09 | N/A | Central nervous system (basal ganglia), musculoskeletal | Moderate-severe; often disabling | Often persistent; partial response to treatment; may improve gradually over years after discontinuation |
| 10 | 10 | Medication-Induced Parkinsonism | Psychiatric Emergency | 15-40% of patients on antipsychotics; second most common cause of parkinsonism after Parkinson disease | Not inherited; dose-dependent D2 receptor blockade; elderly and female patients at higher risk | LRRK2, GBA variants may unmask susceptibility | 12q12 (LRRK2); 1q22 (GBA) | Bradykinesia, cogwheel rigidity, resting tremor (typically bilateral, symmetric - unlike idiopathic PD), masked facies, shuffling gait, postural instability; develops within weeks-months of dopamine antagonist exposure | Any age; usually within 3 months of drug initiation; more common in elderly | Clinical diagnosis; temporal association with D2 antagonist; DAT-SPECT scan (normal in drug-induced) to differentiate from Parkinson disease; DSM-5-TR criteria | Discontinue/reduce offending agent; switch to second-generation antipsychotic with lower D2 affinity (quetiapine, clozapine); anticholinergics (benztropine, trihexyphenidyl); amantadine; avoid levodopa (may worsen psychosis) | No | G21.11 | N/A | Central nervous system (basal ganglia, dopaminergic pathways) | Mild-moderate; usually reversible | Typically resolves within weeks-months of discontinuation; may persist or unmask idiopathic PD in up to 20% |
| 11 | 11 | Delirium Tremens | Psychiatric Emergency | 3-5% of alcohol withdrawal cases; occurs in heavy chronic drinkers; most severe form of alcohol withdrawal | Not directly inherited; alcohol use disorder has ~50% heritability | ADH1B, ALDH2, GABRA2 polymorphisms (susceptibility to AUD) | 4q23 (ADH1B); 12q24.12 (ALDH2); 4p12 (GABRA2) | Severe confusion, disorientation, hallucinations (typically visual - Lilliputian), autonomic hyperactivity (tachycardia, hypertension, diaphoresis, hyperthermia), tremor, agitation, seizures (often precede DT) | Adults; 48-96 hours after last alcohol consumption in chronic heavy drinkers | DSM-5-TR criteria for alcohol withdrawal delirium; CIWA-Ar score; history of chronic heavy alcohol use; exclusion of other causes of delirium | Benzodiazepines (lorazepam, diazepam, chlordiazepoxide) - first-line, symptom-triggered or fixed-dose; ICU admission; IV fluids; thiamine (before glucose) to prevent Wernicke; electrolyte correction (magnesium, phosphate); phenobarbital or propofol for refractory cases; avoid antipsychotics as monotherapy | No | F10.231 | N/A | Central and autonomic nervous system | Life-threatening | Mortality 1-5% with treatment (historically 15-35%); most recover fully; risk of Wernicke-Korsakoff if untreated |
| 12 | 12 | Hyperactive Delirium with Severe Agitation (formerly 'Excited Delirium Syndrome') | Psychiatric Emergency | Term 'Excited Delirium' deprecated by ACEP (2023), NAEMSP (2023), AMA (2021); actual agitated delirium from stimulants/psychosis common | Not inherited; typically drug-induced (cocaine, methamphetamine, PCP, synthetic cathinones) or acute psychiatric decompensation | CYP2D6 variants (drug metabolism) | 22q13.2 (CYP2D6) | Extreme agitation, hyperthermia, diaphoresis, tachycardia, hypertension, insensitivity to pain, superhuman strength, incoherent shouting, paranoia; risk of sudden cardiac death, rhabdomyolysis | Adults; acute onset minutes to hours | ACEP/NAEMSP 2023 joint statement rejects 'excited delirium' as diagnosis; use 'hyperactive delirium with severe agitation'; toxicology screen; metabolic workup; DSM-5-TR delirium criteria | De-escalation; physical restraint avoidance when possible; parenteral sedation (ketamine IM, midazolam, droperidol); IV fluids, cooling; treat underlying cause; ICU monitoring; benzodiazepines for stimulant toxicity | No | F05 | N/A | Central and autonomic nervous system, cardiovascular | Life-threatening | Mortality 8-14% historically; high risk of cardiac arrest, rhabdomyolysis, hyperthermic death |
| 13 | 13 | Acute Suicidal Behavior | Psychiatric Emergency | ~1.4 million suicide attempts/year in US; 49,000 deaths by suicide (2023); 2nd leading cause of death ages 10-34 | Complex multifactorial; 30-55% heritability for suicidal behavior; family history is strong risk factor | SLC6A4 (5-HTTLPR), TPH2, BDNF, FKBP5 (susceptibility) | 17q11.2 (SLC6A4); 12q21.1 (TPH2); 11p14.1 (BDNF); 6p21.31 (FKBP5) | Active suicidal ideation with intent/plan; recent suicide attempt; preparatory behaviors; hopelessness, agitation, insomnia, command hallucinations; access to lethal means | Any age; peaks in adolescence/young adulthood and elderly | Clinical assessment; Columbia Suicide Severity Rating Scale (C-SSRS); Beck Scale for Suicide Ideation; ASQ screening tool; DSM-5-TR Suicidal Behavior Disorder criteria (conditions for further study) | Immediate safety: psychiatric hospitalization, 1:1 observation, means restriction; crisis stabilization; ketamine/esketamine (Spravato - FDA approved 2020 for MDD with suicidal ideation); lithium (reduces suicide in mood disorders); clozapine (schizophrenia); CBT for suicide prevention, DBT; treat underlying psychiatric disorder | No | R45.851 | N/A | Mental health; psychiatric | Life-threatening | Post-attempt, elevated suicide risk persists for years; treatment reduces re-attempt risk; ~10% complete suicide within 10 years after attempt |
| 14 | 14 | Non-Suicidal Self-Injury (NSSI) | Psychiatric Emergency | ~17% lifetime prevalence in adolescents; 13% in young adults; 5-6% in general adult population; F > M in adolescents | Not directly inherited; associated with borderline personality disorder, trauma, mood disorders (which have heritability) | OPRM1, SLC6A4 variants (possible susceptibility) | 6q25.2 (OPRM1); 17q11.2 (SLC6A4) | Deliberate self-inflicted injury without suicidal intent (cutting, burning, scratching, hitting); typically used for emotional regulation, self-punishment, or to communicate distress; not socially sanctioned | Typically onset ages 12-14; adolescents and young adults most affected | DSM-5-TR NSSI Disorder criteria (conditions for further study): ≥5 days of self-injury in past year without suicidal intent; clinical interview; Deliberate Self-Harm Inventory | Dialectical Behavior Therapy (DBT) - evidence-based first-line; Cognitive Behavioral Therapy; Emotion Regulation Group Therapy; treat comorbid conditions (depression, BPD, PTSD); no FDA-approved pharmacotherapy; naltrexone, SSRIs, lamotrigine used off-label; harm reduction strategies | No | R45.88 | N/A | Mental health; integumentary (injury sites) | Mild-moderate medically; significant psychiatric morbidity | ~70% remit within 5 years of onset; associated with 3-4x increased future suicide risk; responds to DBT |
| 15 | 15 | Anti-NMDA Receptor Encephalitis | Neuropsychiatric | Most common autoimmune encephalitis; incidence ~1.5 per million/year; ~80% female; median age 21; ~40% have ovarian teratoma | Not inherited; autoimmune; HLA-B*07:02 and HLA-DRB1*16:02 susceptibility | GRIN1 (target of antibodies - NMDA receptor NR1 subunit) | 9q34.3 (GRIN1) | Stereotyped progression: viral prodrome → psychiatric symptoms (psychosis, agitation, delusions) → seizures → movement disorders (orofacial dyskinesias, dystonia) → autonomic instability, central hypoventilation, coma | Any age; median 21; pediatric and young adult female predominance | Graus criteria (2016); CSF anti-NMDAR IgG antibodies (gold standard, more sensitive than serum); MRI (often normal or T2/FLAIR hyperintensities); EEG (extreme delta brush); tumor screening (pelvic US/MRI for teratoma) | First-line immunotherapy: IV methylprednisolone, IVIG, plasmapheresis; tumor removal if present; second-line: rituximab (Rituxan), cyclophosphamide; long-term: rituximab, mycophenolate; symptomatic: benzodiazepines, antiepileptics; avoid antipsychotics (worsen) | No | G04.81 | N/A | Central nervous system (limbic, basal ganglia, brainstem), autonomic | Severe; life-threatening without treatment | ~80% substantial recovery with treatment (up to 24 months); 12% relapse rate; mortality 4-7%; delay in treatment worsens prognosis |
| 16 | 16 | Anti-LGI1 Encephalitis | Neuropsychiatric | Second most common autoimmune encephalitis; incidence ~0.83 per million/year; male predominance (2:1); median age 60 | Not inherited; strong HLA-DR7 (HLA-DRB1*07:01) association (~90% of cases) | LGI1 (target of antibodies; leucine-rich glioma-inactivated 1) | 10q23.33 (LGI1) | Faciobrachial dystonic seizures (FBDS - pathognomonic, brief unilateral face/arm jerks), limbic encephalitis (memory loss, confusion, temporal lobe seizures), hyponatremia (SIADH in 60%), sleep disturbances, psychiatric symptoms | Elderly; median age 60; rare in children | Graus criteria; serum anti-LGI1 IgG (more sensitive than CSF); MRI (medial temporal T2/FLAIR hyperintensities); EEG; PET (medial temporal hypermetabolism); low sodium | First-line: IV methylprednisolone + IVIG (highly responsive); plasmapheresis; second-line: rituximab, mycophenolate; antiepileptics for FBDS (though often immunotherapy-responsive); tumor screening (rare tumor association <10%) | No | G04.81 | N/A | Central nervous system (limbic system), endocrine (SIADH) | Severe; responsive to treatment | Good with early treatment; 70-80% functional recovery; relapse 14-35%; persistent memory deficits common; mortality 6% |
| 17 | 17 | Anti-CASPR2 Encephalitis (Morvan Syndrome) | Neuropsychiatric | Rare; ~0.1-0.2 per million/year; strong male predominance (9:1); median age 60s | Not inherited; HLA-DRB1*11:01 association; ~20-50% have thymoma | CNTNAP2 (encodes CASPR2 - contactin-associated protein-like 2) | 7q35-q36.1 (CNTNAP2) | Morvan syndrome triad: peripheral nerve hyperexcitability (neuromyotonia, myokymia, cramps), encephalopathy (confusion, hallucinations), severe insomnia (agrypnia excitata); dysautonomia, neuropathic pain, weight loss; limbic encephalitis variant | Elderly; median age 60-70; almost exclusively adults | Serum anti-CASPR2 IgG antibodies; EMG (neuromyotonic discharges); MRI; thymoma screening (CT chest); polysomnography showing agrypnia excitata | First-line immunotherapy: IV methylprednisolone, IVIG, plasmapheresis; rituximab for refractory; thymectomy if thymoma; symptomatic: carbamazepine for neuromyotonia; efgartigimod (Vyvgart) emerging therapy; avoid in paraneoplastic cases until tumor addressed | No | G04.81 | N/A | Central and peripheral nervous system, autonomic | Severe; life-threatening if untreated | More guarded prognosis than LGI1; ~35-88% good outcome; mortality higher with thymoma; relapse 25-38% |
| 18 | 18 | Anti-GABA-B Receptor Encephalitis | Neuropsychiatric | Rare; ~0.1 per million/year; ~50% paraneoplastic (small cell lung cancer); median age 60 | Not inherited; strong association with SCLC (paraneoplastic) | GABBR1, GABBR2 (encode GABA-B receptor subunits - antibody targets) | 6p22.1 (GABBR1); 9q22.33 (GABBR2) | Severe, refractory temporal lobe seizures (often status epilepticus) as prominent/initial feature; limbic encephalitis (confusion, memory loss, psychiatric symptoms); rare cerebellar ataxia, opsoclonus-myoclonus | Adults; median age 60; rare in young | Serum and CSF anti-GABA-B receptor IgG antibodies; MRI (medial temporal T2/FLAIR hyperintensities); EEG (temporal epileptiform activity); urgent SCLC screening (CT chest, PET) | Immunotherapy: IV methylprednisolone, IVIG, plasmapheresis; second-line rituximab, cyclophosphamide; tumor treatment (chemotherapy for SCLC); aggressive seizure management; prognosis depends on tumor status | No | G04.81 | N/A | Central nervous system (limbic system) | Severe; life-threatening | Worse prognosis than other autoimmune encephalitides due to SCLC association; mortality ~40% at 1 year; non-paraneoplastic cases better outcome |
| 19 | 19 | PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections) | Neuropsychiatric | Estimated 1 in 200 children; ~160,000 US children; controversial entity | Not directly inherited; family history of autoimmune disease, rheumatic fever risk factors | MBL2, TNF-α, HLA-B (possible susceptibility in rheumatic fever spectrum) | 10q21.1 (MBL2); 6p21.33 (TNF); 6p21.33 (HLA-B) | Swedo/NIMH criteria: (1) presence of OCD and/or tic disorder, (2) prepubertal onset (3-12 years), (3) abrupt onset and episodic relapsing-remitting course, (4) association with Group A strep infection (positive throat culture or rising ASO/anti-DNase B), (5) neurological abnormalities (choreiform movements, hyperactivity) | Prepubertal; 3 years to puberty | Swedo NIMH diagnostic criteria (1998); throat culture; ASO and anti-DNase B titers; rule out Sydenham chorea; clinical - no confirmatory biomarker | Antibiotics for active strep (penicillin, amoxicillin, azithromycin); CBT and SSRIs for OCD; immunomodulation (IVIG, plasmapheresis) in severe cases per PANDAS Physicians Network guidelines; prophylactic antibiotics controversial | No | D89.89 | N/A | Central nervous system (basal ganglia), immune | Mild-moderate; episodic | Generally good with treatment; may have recurrent exacerbations; most improve with age; long-term outcomes under study |
| 20 | 20 | PANS (Pediatric Acute-onset Neuropsychiatric Syndrome) | Neuropsychiatric | Incidence ~1 in 200 children (overlaps PANDAS); broader umbrella diagnosis | Not directly inherited; possible genetic susceptibility to autoimmune disorders | Unknown; may overlap with PANDAS susceptibility | N/A | PANS Consortium criteria: (1) abrupt dramatic onset of OCD or severely restricted food intake, (2) concurrent presence of ≥2 of 7 neuropsychiatric symptoms (anxiety, emotional lability, irritability/aggression, behavioral regression, deterioration in school, sensory/motor abnormalities, somatic signs); any infectious/inflammatory trigger (not limited to strep) | Prepubertal to early adolescent; abrupt onset | PANS Consortium 2014 criteria; infectious workup (strep, mycoplasma, Lyme, viral); autoimmune workup; exclude other causes | Treat identified infections; anti-inflammatories (NSAIDs, corticosteroids); IVIG or plasmapheresis for severe cases; SSRIs and CBT for OCD; per PANS/PANDAS Consortium 2017 guidelines (3-part) | No | F06.8 | N/A | Central nervous system, immune | Mild-moderate; episodic | Variable; most children improve with treatment; may have relapses; early intervention improves outcomes |
| 21 | 21 | Hashimoto Encephalopathy / SREAT (Steroid-Responsive Encephalopathy Associated with Autoimmune Thyroiditis) | Neuropsychiatric | Rare; prevalence ~2 per 100,000; F:M ratio 4:1; mean age 45-55 | Not inherited; autoimmune; HLA associations with Hashimoto thyroiditis | TPO, TG (thyroid peroxidase and thyroglobulin - antibody targets in associated thyroiditis) | 2p25.3 (TPO); 8q24.22 (TG) | Subacute encephalopathy: confusion, cognitive decline, psychiatric symptoms (psychosis, depression), seizures, stroke-like episodes, myoclonus, tremor, ataxia; typically euthyroid; elevated anti-TPO and/or anti-TG antibodies | Adults; mean age 45-55; rarely pediatric | Peterson/Castillo criteria; high-titer anti-TPO and/or anti-TG antibodies; exclusion of other encephalopathies; MRI often normal; EEG diffuse slowing; CSF elevated protein (75%); response to steroids is diagnostic | High-dose corticosteroids (IV methylprednisolone 1 g/day x 5 days, then oral prednisone) - dramatic response is diagnostic; IVIG, plasmapheresis, azathioprine, mycophenolate, rituximab for steroid-refractory cases; antiepileptics for seizures | No | G93.49 | N/A | Central nervous system, endocrine (thyroid autoimmunity) | Moderate-severe; treatable | Excellent with corticosteroids; ~90-95% respond; some require long-term immunosuppression; relapses in 40% |
| 22 | 22 | NPSLE (Neuropsychiatric Systemic Lupus Erythematosus) | Neuropsychiatric | Occurs in 30-40% of SLE patients; SLE affects ~1 in 2,500 (US); F:M 9:1; higher in African American, Hispanic populations | Complex polygenic; SLE has ~40% heritability; HLA-DR2, HLA-DR3 associations | IRF5, STAT4, ITGAM, HLA-DRB1, TREX1 (SLE susceptibility) | 7q32.1 (IRF5); 2q32.3 (STAT4); 16p11.2 (ITGAM); 6p21.32 (HLA-DRB1); 3p21.31 (TREX1) | 1999 ACR nomenclature: 19 syndromes - 12 CNS (headache, seizures, cerebrovascular disease, cognitive dysfunction, mood disorder, psychosis, demyelinating syndrome, aseptic meningitis, acute confusional state, anxiety, movement disorder, myelopathy) + 7 PNS | Any age; most common in young to middle-aged women; 28-40% develop NPSLE within first year of SLE diagnosis | 1999 ACR case definitions; SLICC or EULAR criteria for SLE; autoantibodies (ANA, anti-dsDNA, anti-Sm, anti-ribosomal P, antiphospholipid); MRI; CSF analysis; neuropsychological testing | Immunosuppression: corticosteroids, cyclophosphamide, mycophenolate, azathioprine, rituximab, belimumab (Benlysta); hydroxychloroquine (Plaquenil) - reduces NPSLE incidence; anticoagulation if antiphospholipid syndrome; symptomatic psychiatric treatment | No | M32.19 | 152700 | Central and peripheral nervous system, multisystem (autoimmune) | Variable; can be severe | Variable; focal NPSLE better than diffuse; 10-year mortality increased; hydroxychloroquine improves outcomes |
| 23 | 23 | Paraneoplastic Limbic Encephalitis | Neuropsychiatric | Rare; 1-2% of small cell lung cancer patients; 50% SCLC, 20% testicular, 8% breast, others (thymoma, Hodgkin lymphoma) | Not inherited; paraneoplastic autoimmune reaction | Target antigens: HU (ELAVL4), Ma2 (PNMA2), CRMP5, amphiphysin, GABA-B receptor | 1p34.2 (ELAVL4); 8p21.2 (PNMA2) | Graus criteria: subacute (<3 months) short-term memory loss, seizures, psychiatric symptoms (confusion, mood changes, personality change, hallucinations); temporal lobe involvement; limbic dysfunction | Typically middle-aged to elderly; median 50-70; depends on tumor type | Graus 2016 criteria; onconeural antibodies (anti-Hu, Ma2, CRMP5, amphiphysin, GABA-B); MRI (medial temporal T2/FLAIR hyperintensities); CSF pleocytosis; aggressive tumor screening (CT/PET, testicular US) | Treatment of underlying tumor (primary); immunotherapy: IV methylprednisolone, IVIG, plasmapheresis, cyclophosphamide, rituximab; prognosis limited by tumor; intracellular antibodies (Hu, Ma2) typically poor response | No | G13.1 | N/A | Central nervous system (limbic system), systemic (tumor) | Severe; often life-limiting due to tumor | Poor with anti-Hu/Ma2 (T-cell mediated, intracellular); better with cell surface antibodies; mortality reflects underlying malignancy |
| 24 | 24 | HIV-Associated Neurocognitive Disorder (HAND) | Neuropsychiatric | ~30-50% of HIV patients have some degree of HAND; severe HAD now rare in cART era (<5%); ANI most common form | Not inherited; APOE ε4 may increase risk of HAD | APOE (ε4 allele - susceptibility) | 19q13.32 (APOE) | Frascati criteria - 3 categories: ANI (asymptomatic, impairment ≥1 SD in ≥2 domains); MND (mild with functional impact); HAD (HIV-associated dementia, ≥2 SD impairment with marked functional decline); affects attention, executive function, memory, processing speed | Adults; any HIV+ individual; risk increases with age, low CD4 nadir, detectable viral load | Frascati criteria (Antinori 2007); neuropsychological testing of 5 domains; International HIV Dementia Scale (IHDS); exclusion of other causes; HIV viral load, CD4 count, CSF analysis; MRI | Combination antiretroviral therapy (cART) - primary treatment; CNS-penetrating regimens; treat comorbidities (depression, substance use, metabolic disease); cognitive rehabilitation; no specific FDA-approved treatment for HAND | No | B20; F02.80 | 609423 | Central nervous system, immune (HIV) | Variable; HAD severe, ANI/MND milder | Improved in cART era; HAD mortality high if untreated; ANI/MND may progress or stabilize; early cART improves outcomes |
| 25 | 25 | Neurosyphilis - General Paresis | Neuropsychiatric | Rare in antibiotic era; resurgence with HIV co-infection; ~15-20% of untreated syphilis progresses to neurosyphilis; general paresis typically 10-25 years after primary infection | Not inherited; caused by Treponema pallidum infection | N/A (infectious) | N/A | Progressive dementia, personality change, grandiose delusions ('general paralysis of the insane'), mood lability, psychiatric symptoms; Argyll Robertson pupils; tremor, dysarthria, hyperreflexia, seizures; late: paralysis, incontinence | Typically 10-25 years after untreated primary infection; middle-aged to elderly | CSF VDRL (specific); reactive serum treponemal test (FTA-ABS, TPPA); CSF pleocytosis, elevated protein; MRI (cortical atrophy, mesiotemporal involvement); CDC diagnostic criteria | IV penicillin G 18-24 million units/day x 10-14 days (first-line, CDC); ceftriaxone alternative for penicillin-allergic; desensitization if allergic; treat HIV co-infection; symptomatic psychiatric treatment; Jarisch-Herxheimer reaction prophylaxis | No | A52.17 | N/A | Central nervous system, meninges, vasculature | Severe; progressive if untreated | Historical mortality near 100% untreated; with treatment, may halt progression but neurologic/cognitive deficits often persistent |
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