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Intellectual deficiency - hypotonia - spasticity - sleep disorder
1 OMIM reference -
1 associated gene
25 connected diseases
No signs/symptoms info
Disease Type of connection
Dravet syndrome
Generalized epilepsy with febrile seizures-plus context
Benign familial infantile seizures
Benign familial neonatal-infantile seizures
Early infantile epileptic encephalopathy
West syndrome
Congenital lethal myopathy, Compton-North type
Distal 22q11.2 microdeletion syndrome
Autoimmune lymphoproliferative syndrome
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Alternating hemiplegia of childhood
Aneurysm - osteoarthritis syndrome
Familial or sporadic hemiplegic migraine
Familial thoracic aortic aneurysm and aortic dissection
Brugada syndrome
FADD-related immunodeficiency
Familial atrial fibrillation
Familial progressive cardiac conduction defect
Oculootodental syndrome
Autosomal agammaglobulinemia
Generalized pseudohypoaldosteronism type 1
Idiopathic bronchiectasis
Liddle syndrome
SHORT syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ANK3 Q12955600465
No signs/symptoms info available.