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Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
1 associated gene
25 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant secondary polycythemia
Multiple paragangliomas associated with polycythemia
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Follicular lymphoma
Intravascular large B-cell lymphoma
Primary mediastinal large B-cell lymphoma
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autosomal recessive primary microcephaly
Giant cell glioblastoma
Gliosarcoma
Hydranencephaly
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Isolated ectopia lentis
Laurin-Sandrow syndrome
MULIBREY nanism
Microlissencephaly
Papillary or follicular thyroid carcinoma
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
ARNT2 Q9HBZ2606036
No signs/symptoms info available.