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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 5
Desmoid tumor
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

APC CTNNA3
CTNNB1 DSC2
DSG2
DSP
JUP
LMNA
PKP2
RYR2
TGFB3
TMEM43
TTN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APC
CTNNB1
CTNNB1
CTNNB1
CTNNB1
(0.96)
(0.83)
(0.82)
(0.65)
(0.63)
JUP
CTNNA3
JUP
PKP2
LMNA



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
CTNNA3 DSC2 DSG2 DSP JUP LMNA
PKP2 RYR2 TGFB3 TMEM43 TTN



Desmoid tumor
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

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

Synonym(s):
- Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: sporadic
Epidemiological data:
(no data available)

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

Desmoid tumor

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


Familial isolated arrhythmogenic ventricular dysplasia, left dominant form

(no data available)