ODCs

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1 OMIM reference -
2 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 1

Scalp-ear-nipple syndrome

1 OMIM reference -
1 associated gene
23 signs/symptoms

Desmoid tumor

Scalp-ear-nipple syndrome

APC	(UniProt - OMIM)		KCTD1	(UniProt - OMIM)
CTNNB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CTNNB1	(0.68)	KCTD1

Citations in the biomedical literature:

Desmoid tumor		Scalp-ear-nipple syndrome
	Synonym(s): - Aggressive fibromatosis - Desmoid type fibromatosis		Synonym(s): - Finlay-Marks syndrome

	Classification (Orphanet): - Rare oncologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare gynecologic or obstetric disease - Rare skin disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536623

Desmoid tumor		Scalp-ear-nipple syndrome
	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		Very frequent - Anomalies of skin, subcutaneous tissue and mucosae - Antihelix anomaly - Antitragus abnormal - Autosomal dominant inheritance - Hypoplastic / absent nipples - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Small / hypoplastic / adherent / absent ear lobe - Tragus abnormal / absent Frequent - Abnormal fingernails - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Cataract / lens opacification - Chronic arterial hypertension - Delayed dentition / eruption of teeth / lack of eruption of teeth - Insulin-dependent / type 1 diabetes - Recurrent urinary infections - Structural anomalies of the kidney and the urinary tract - Telecanthus / canthal dystopy Occasional - Coloboma of the eyelid - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Renal / kidney anomalies - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter