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Lethal acantholytic epidermolysis bullosa

1 OMIM reference -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Primary peritoneal carcinoma

1 associated gene
9 signs/symptoms

Lethal acantholytic epidermolysis bullosa

Primary peritoneal carcinoma

DSP	(UniProt - OMIM)		BRCA1	(UniProt - OMIM)
JUP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JUP	(0.63)	BRCA1

Citations in the biomedical literature:

Lethal acantholytic epidermolysis bullosa		Primary peritoneal carcinoma
	Synonym(s): - LAEB		Synonym(s): - EOPPC - Extra-ovarian primary peritoneal carcinoma - PPC - Primary peritoneal serous carcinoma - Serous surface papillary carcinoma

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	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: unknown Average age onset: adulthood Average age of death: normal Type of inheritance: unknown

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


COMMON SIGNS	- Early death / lethality

Lethal acantholytic epidermolysis bullosa		Primary peritoneal carcinoma
	Very frequent - Absent / small fingernails / anonychia of hands - Alopecia - Autosomal recessive inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - 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 - Acute abdominal pain / colic - Anomalies of the abdominal wall - Constipation - Nausea / vomiting / regurgitation / merycism / hyperemesis - Neoplasms / tumors - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Peritoneal diseases - Weight loss / loss of appetite / break in weight curve / general health alteration