Cytoscape Web
Click node...

Keratoderma hereditarium mutilans
1 OMIM reference -
1 associated gene
14 connected diseases
17 signs/symptoms
Disease Type of connection
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
KID syndrome
Hypotrichosis-deafness syndrome
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):
- Mutilating keratoderma of Vohwinkel
- Mutilating keratoderma plus deafness
- PPK mutilans and deafness
- Vohwinkel syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GJB2 P29033121011
Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Autosomal dominant inheritance
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Palmoplantar hyperkeratosis / keratoderma
- Sensorineural deafness / hearing loss

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism

Occasional
- Alopecia
- Anomalies of spine, vertebrae and pelvis
- Auto-aggressivity / auto-mutilation
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Dysplastic / thick / grooved toenails
- Follicular / erythematous / edematous papules / milium
- Hearing loss / hypoacusia / deafness
- Ichthyosis / ichthyosiform dermatitis
- Nails anomalies
- Osteolysis / osteoclasia / bone destruction / erosions