ODCs

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1 OMIM reference -
3 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
2 associated genes
21 signs/symptoms

Junctional epidermolysis bullosa, Herlitz type

Desmoid tumor


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

Citations in the biomedical literature:

Junctional epidermolysis bullosa, Herlitz type		Desmoid tumor
	Synonym(s): - Epidermolysis bullosa letalis - JEB-H - Junctional epidermolysis bullosa generalisata gravis - Junctional epidermolysis bullosa, Herlitz-Pearson type		Synonym(s): - Aggressive fibromatosis - Desmoid type fibromatosis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare odontologic disease - Rare skin disease		Classification (Orphanet): - Rare oncologic disease

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

	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: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: sporadic

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

Junctional epidermolysis bullosa, Herlitz type		Desmoid tumor
	Very frequent - Abnormal fingernails - Autosomal recessive inheritance Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Dehydration / hydroelectrolytic loss - 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		Very frequent - Anomalies of the abdominal wall - Fibromatosis / bone fibroma - Muscle anomalies - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Subcutaneous nodules / lipomas / tumefaction / swelling Frequent - Acute abdominal pain / colic - Myalgia / muscular pain - Polyposis of the bowel / colon / intestine Occasional - Articular / joint pain / arthralgia - Bladder and ureter anomalies - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Intestinal obstruction / ileus - Malabsorption / chronic diarrhea / steatorrhea - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Osteolysis / osteoclasia / bone destruction / erosions - Restricted joint mobility / joint stiffness / ankylosis - Retinitis pigmentosa / retinal pigmentary changes - Sepsis severe / septicemia - Skin tumors / lumps / epidermal cysts - Thoracic / chest pain