ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
19 signs/symptoms

17q11 microdeletion syndrome

Epidermolysis bullosa simplex due to plakophilin deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.63)	PKP1

Citations in the biomedical literature:

17q11 microdeletion syndrome		Epidermolysis bullosa simplex due to plakophilin deficiency
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - Ectodermal dysplasia - skin fragility syndrome - McGrath syndrome

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - 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 recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536183

Epidermolysis bullosa simplex due to plakophilin deficiency
	Very frequent - Alopecia - Anomalies of eyelids, eyelashes and lacrimal system - Autosomal recessive inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Eyebrows anomalies - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Nails anomalies - Palmoplantar hyperkeratosis / keratoderma - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Blepharitis / eyelid inflammation - Dry / squaly skin / exfoliation - Failure to thrive / difficulties for feeding in infancy / growth delay - Fissured / scrotal tongue - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Immunodeficiency / increased susceptibility to infections / recurrent infections - Malabsorption / chronic diarrhea / steatorrhea - Pruritus / itching Occasional - Woolly / frizzy hair
17q11 microdeletion syndrome
(no data available)