ODCs

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1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
18 signs/symptoms

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

Epidermolysis bullosa simplex, Dowling-Meara type

BTK	(UniProt - OMIM)		KRT14	(UniProt - OMIM)
ELF4	(UniProt - OMIM)		KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BTK	(0.68)	KRT5

Citations in the biomedical literature:

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia		Epidermolysis bullosa simplex, Dowling-Meara type
	Synonym(s): (no synonyms)		Synonym(s): - Epidermolysis bullosa simplex, herpetiformis

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		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: x-linked recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant

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

Epidermolysis bullosa simplex, Dowling-Meara type
	Very frequent - Abnormal fingernails - Anomalies of skin, subcutaneous tissue and mucosae - Autosomal dominant inheritance - Mucosal / cutaneous hemorrhage - Nails anomalies - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Abnormal scarring / cheloids / hypertrophic scars - Constipation - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Failure to thrive / difficulties for feeding in infancy / growth delay - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Skin hypoplasia / aplasia / atrophy - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
(no data available)