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Erythrokeratodermia variabilis
1 OMIM reference -
2 associated genes
31 signs/symptoms
COMMON GENES: 1
Neuropathy with hearing impairment
1 associated gene
No signs/symptoms info
Erythrokeratodermia variabilis
Neuropathy with hearing impairment

GJB3
(UniProt - OMIM)
 GJB3
(UniProt - OMIM)
GJB4
(UniProt - OMIM)

COMMON
GENES 		GJB3


Citations in the biomedical literature:


Erythrokeratodermia variabilis
GJB3 GJB4
Neuropathy with hearing impairment



Erythrokeratodermia variabilis
Neuropathy with hearing impairment

Synonym(s):
- EKV
- Erythrokeratodermia variabilis, Mendes da Costa type
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the ear and mastoid process -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Erythrokeratodermia variabilis

Very frequent
- Autosomal dominant inheritance
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Macules
- Microcephaly
- Short stature / dwarfism / nanism
- Skin photosensitivity
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
- Weight loss / loss of appetite / break in weight curve / general health alteration

Frequent
- Alopecia
- Cataract / lens opacification
- Diabetes mellitus
- Dry / squaly skin / exfoliation
- Glaucoma
- Hair and scalp anomalies
- Irregular / in bands / reticular skin hyperpigmentation
- Late puberty / hypogonadism / hypogenitalism
- Palmoplantar hyperkeratosis / keratoderma

Occasional
- Congenital cardiac anomaly / malformation / cardiopathy
- Corneal clouding / opacity / vascularisation
- Hearing loss / hypoacusia / deafness
- Hirsutism / hypertrichosis / Increased body hair
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Nails anomalies
- Prominent / bat ears
- Short hand / brachydactyly
- Skin tumors / lumps / epidermal cysts
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Tapered fingers


Neuropathy with hearing impairment

(no data available)