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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
5 OMIM references -
3 associated genes
13 signs/symptoms
Desmoid tumor
Waardenburg syndrome type 2

APC MITF
CTNNB1 SNAI2
SOX10


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.52)
MITF



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Waardenburg syndrome type 2
MITF SNAI2 SOX10



Desmoid tumor
Waardenburg syndrome type 2

Synonym(s):
- Aggressive fibromatosis
- Desmoid type fibromatosis

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
1 MeSH reference: C536463

Desmoid tumor
Waardenburg syndrome type 2

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
- Autosomal dominant inheritance
- Decreased hair pigmentation / hypopigmentation of hair
- Hearing loss / hypoacusia / deafness
- Heterochromia / mixed colouring of iris
- Premature greying of hair
- Sensorineural deafness / hearing loss

Frequent
- Irregular / patchy skin hypopigmentation
- White forelock / piebaldism

Occasional
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Ptosis
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Renal / kidney anomalies
- Telecanthus / canthal dystopy