ODCs

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1 OMIM reference -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 2

1 OMIM reference -
2 associated genes
21 signs/symptoms

Epidermolysis bullosa simplex with mottled pigmentation

Desmoid tumor

KRT14	(UniProt - OMIM)		APC	(UniProt - OMIM)
KRT5	(UniProt - OMIM)		CTNNB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT14 KRT5	(0.63) (0.63)	APC APC

Citations in the biomedical literature:

Epidermolysis bullosa simplex with mottled pigmentation		Desmoid tumor
	Synonym(s): - EBS-MP		Synonym(s): - Aggressive fibromatosis - Desmoid type fibromatosis

	Classification (Orphanet): - Rare genetic 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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		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 - 1 MeSH reference: C535959		External references: 1 OMIM reference - No MeSH references

Epidermolysis bullosa simplex with mottled pigmentation		Desmoid tumor
	Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Autosomal dominant inheritance - Follicular / erythematous / edematous papules / milium - Irregular / patchy skin hypopigmentation - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal fingernails - Bruisability - Nails anomalies - Palmoplantar hyperkeratosis / keratoderma - Premature ageing		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 - Early death / lethality - 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