ODCs

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1 OMIM reference -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
8 signs/symptoms

Epidermolysis bullosa simplex with mottled pigmentation

Ichthyosis hystrix of Curth-Macklin

KRT14	(UniProt - OMIM)		KRT1	(UniProt - OMIM)
KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT5	(0.52)	KRT1

Citations in the biomedical literature:

Epidermolysis bullosa simplex with mottled pigmentation		Ichthyosis hystrix of Curth-Macklin
	Synonym(s): - EBS-MP		Synonym(s): - Ichthyosis hystrix, Curth-Macklin 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: 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: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535959		External references: 1 OMIM reference - 1 MeSH reference: C536088


COMMON SIGNS	- Abnormal fingernails - Autosomal dominant inheritance - Follicular / erythematous / edematous papules / milium

Epidermolysis bullosa simplex with mottled pigmentation		Ichthyosis hystrix of Curth-Macklin
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Irregular / patchy skin hypopigmentation - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Bruisability - Nails anomalies - Palmoplantar hyperkeratosis / keratoderma - Premature ageing		Very frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Ichthyosis / ichthyosiform dermatitis Frequent - Contractures / cramps / trismus / tetania / claudication / opisthotonos Occasional - Gangrena / necrosis