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Lethal acantholytic epidermolysis bullosa

1 OMIM reference -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
5 signs/symptoms

Lethal acantholytic epidermolysis bullosa

B4GALT1-CDG

DSP	(UniProt - OMIM)		B4GALT1	(UniProt - OMIM)
JUP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JUP	(0.49)	B4GALT1

Citations in the biomedical literature:

Lethal acantholytic epidermolysis bullosa		B4GALT1-CDG
	Synonym(s): - LAEB		Synonym(s): - Beta-1,4-galactosyltransferase deficiency - CDG syndrome type IId - CDG-IId - CDG2D - Carbohydrate deficient glycoprotein syndrome type IId - Congenital disorder of glycosylation type 2d - Congenital disorder of glycosylation type IId

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hepatic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535493		External references: 1 OMIM reference - No MeSH references

Lethal acantholytic epidermolysis bullosa		B4GALT1-CDG
	Very frequent - Absent / small fingernails / anonychia of hands - Alopecia - Autosomal recessive inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Premature eruption of teeth / natal teeth - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Cardiomyopathy / hypertrophic / dilated - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis		Very frequent - Dandy-Walker anomaly - Hydrocephaly - Hypotonia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Myopathy