ODCs

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1 OMIM reference -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
16 signs/symptoms

Lethal acantholytic epidermolysis bullosa

Hypotrichosis with juvenile macular degeneration

DSP	(UniProt - OMIM)		CDH3	(UniProt - OMIM)
JUP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JUP	(0.74)	CDH3

Citations in the biomedical literature:

Lethal acantholytic epidermolysis bullosa		Hypotrichosis with juvenile macular degeneration
	Synonym(s): - LAEB		Synonym(s): - HJMD - Hypotrichosis with juvenile macular dystrophy

	Classification (Orphanet): - Rare genetic 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: 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: normal Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance

Lethal acantholytic epidermolysis bullosa		Hypotrichosis with juvenile macular degeneration
	Very frequent - Absent / small fingernails / anonychia of hands - Alopecia - 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 - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Macular dystrophy / absence / hypoplasia of the macula - Macular pigmentary anomaly / cherry-red spot - Short stature / dwarfism / nanism - Visual loss / blindness / amblyopia Frequent - Brittle hair / distrix / trichorrhexis - Fine hair - Pili torti Occasional - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Excessive freckling - Global upper and lower limbs anomalies - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nystagmus - Pigmented naevi / naevus pigmentosus / lentigo - Severe allergic reaction / atopy