ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

1 OMIM reference -
2 associated genes
31 signs/symptoms

Transgrediens et progrediens palmoplantar keratoderma

Erythrokeratodermia variabilis

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

Citations in the biomedical literature:

Transgrediens et progrediens palmoplantar keratoderma		Erythrokeratodermia variabilis
	Synonym(s): - Greither disease - Keratosis extremitatum hereditaria progrediens - Keratosis palmoplantaris transgrediens et progrediens - Progressive diffuse PPK - Progressive diffuse palmoplantar keratoderma - Transgrediens et progrediens PPK		Synonym(s): - EKV - Erythrokeratodermia variabilis, Mendes da Costa type

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Alopecia - Autosomal dominant inheritance - Dry / squaly skin / exfoliation - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma

Transgrediens et progrediens palmoplantar keratoderma		Erythrokeratodermia variabilis
	Frequent - Hyperhidrosis / increased sweating - Thin / hypoplastic / hyperconvex fingernails Occasional - Corneal dystrophy - Restricted joint mobility / joint stiffness / ankylosis		Very frequent - Cutaneous rash - Follicular / erythematous / edematous papules / milium - 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 - Cataract / lens opacification - Diabetes mellitus - Glaucoma - Hair and scalp anomalies - Irregular / in bands / reticular skin hyperpigmentation - Late puberty / hypogonadism / hypogenitalism 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