ODCs

Click node...

1 OMIM reference -
3 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Junctional epidermolysis bullosa, Herlitz type

Erythrocyte galactose epimerase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LAMA3	(0.63)	GALE

Citations in the biomedical literature:

Junctional epidermolysis bullosa, Herlitz type		Erythrocyte galactose epimerase deficiency
	Synonym(s): - Epidermolysis bullosa letalis - JEB-H - Junctional epidermolysis bullosa generalisata gravis - Junctional epidermolysis bullosa, Herlitz-Pearson type		Synonym(s): - Erythrocyte GALE deficiency - Erythrocyte GALE-D - Erythrocyte UDP-galactose-4-epimerase deficiency - Erythrocyte epimerase deficiency galactosemia - Erythrocyte uridine diphosphate galactose-4-epimerase deficiency

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare odontologic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare renal disease

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

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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

Junctional epidermolysis bullosa, Herlitz type
	Very frequent - Abnormal fingernails - Autosomal recessive inheritance Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Dehydration / hydroelectrolytic loss - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Failure to thrive / difficulties for feeding in infancy / growth delay Occasional - Alopecia - Onycholysis - Syndactyly of fingers / interdigital palm - Syndactyly of toes
Erythrocyte galactose epimerase deficiency
(no data available)