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Endocrine Disorders
A reference to disorders of hormone-producing glands, covering genetic and acquired causes, symptoms, diagnosis, treatment options and effects on health.
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A reference to disorders of hormone-producing glands, covering genetic and acquired causes, symptoms, diagnosis, treatment options and effects on health.
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110records
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Columns
| # | TextID | TextDisorder Name | TextCategory | TextPrevalence | TextInheritance Pattern | TextAffected Gene(s) | LocationChromosome Location | TextKey Symptoms | TextTypical Age of Onset | TextDiagnosis Methods | TextAvailable Treatments | TextOrphan Drug Designation | TextICD-10 Code | NumberOMIM Number | TextAffected Gland/System | TextDisease Severity | TextLife Expectancy Impact |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 01 | 1 | Acromegaly | Pituitary/Anterior | Estimated diagnosed prevalence: 3–14 per 100,000 people (NIDDK); varies by population and ascertainment | Sporadic (mostly); rare familial | GNAS, AIP, GPR101 | 20q13, 11q13, Xq26 | Enlarged hands/feet, coarse facial features, jaw protrusion, sweating, headache, joint pain, organomegaly | Adults (30-50) | Serum IGF-1, OGTT with GH suppression, pituitary MRI | Transsphenoidal surgery, somatostatin analogs (octreotide, lanreotide, pasireotide), pegvisomant, cabergoline, radiotherapy | Yes | E22.0 | 102200 | Pituitary (somatotrophs) | Severe | Reduced (10-15 yrs untreated) |
| 02 | 2 | Gigantism (Pituitary) | Pituitary/Anterior | <1 per million | Sporadic; X-linked acrogigantism | GPR101, AIP | Xq26.3, 11q13.2 | Excessive linear growth before epiphyseal closure, very tall stature, organomegaly, hyperhidrosis, headaches | Childhood/adolescence | IGF-1, GH suppression test, MRI pituitary, genetic testing | Surgery, somatostatin analogs, GH receptor antagonist, radiotherapy | Yes | E22.0 | 300942 | Pituitary (somatotrophs) | Severe | Reduced if untreated |
| 03 | 3 | Prolactinoma | Pituitary/Anterior | ~50 per 100,000 | Sporadic; rare familial (MEN1, FIPA) | MEN1, AIP | 11q13.1 | Galactorrhea, amenorrhea, infertility, decreased libido, erectile dysfunction, visual field defects (macroadenoma) | Adults (20-50) | Serum prolactin, MRI pituitary, visual field testing | Dopamine agonists (cabergoline, bromocriptine), transsphenoidal surgery, radiotherapy | No | D35.2 | 600634 | Pituitary (lactotrophs) | Moderate | Normal with treatment |
| 04 | 4 | Cushing Disease (Pituitary ACTH adenoma) | Pituitary/Anterior | 1-2 per million/year | Sporadic | USP8, USP48, BRAF (somatic) | 15q21, 1p36, 7q34 | Central obesity, moon face, buffalo hump, purple striae, hypertension, diabetes, muscle weakness, osteoporosis, mood changes | Adults (25-45) | 24-hr urinary free cortisol, late-night salivary cortisol, dexamethasone suppression, ACTH, IPSS, MRI | Transsphenoidal surgery, ketoconazole, metyrapone, mifepristone, pasireotide, osilodrostat, radiotherapy, bilateral adrenalectomy | Yes | E24.0 | 219090 | Pituitary (corticotrophs) | Severe | Reduced (4-5x mortality untreated) |
| 05 | 5 | Hypopituitarism | Pituitary/Anterior | 45 per 100,000 | Mostly acquired; rare congenital | PROP1, POU1F1, HESX1, LHX3 | 5q35, 3p11, 3p14, 9q34 | Fatigue, weight changes, cold intolerance, hypotension, infertility, growth failure (children), pallor | Any age | Pituitary hormone panel (ACTH, TSH, LH/FSH, GH, PRL), stimulation tests, MRI | Hormone replacement (hydrocortisone, levothyroxine, sex steroids, GH, desmopressin) | No | E23.0 | 262600 | Pituitary (multiple) | Severe | Normal with replacement |
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