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Hypotrichosis-deafness syndrome
1 associated gene
14 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
KID syndrome
Keratoderma hereditarium mutilans
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Palmoplantar keratoderma-deafness syndrome
Porokeratotic eccrine ostial and dermal duct nevus
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
X-linked Charcot-Marie-Tooth disease type 1
X-linked progressive cerebellar ataxia
Hidrotic ectodermal dysplasia
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin 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 dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
GJB2 P29033121011
No signs/symptoms info available.