Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Desmoid tumor
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

APC PTEN
CTNNB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.49)
PTEN



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
PTEN



Desmoid tumor
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

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

Synonym(s):
- SOLAMEN syndrome

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
(no data available)

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


COMMON
SIGNS
- Subcutaneous nodules / lipomas / tumefaction / swelling


Desmoid tumor
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus

Very frequent
- Anomalies of the abdominal wall
- Fibromatosis / bone fibroma
- Muscle anomalies
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

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
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Autosomal dominant inheritance
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Follicular / erythematous / edematous papules / milium
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Lymphangioma / lymphatic malformations
- Rippled skin
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Varices / varicous veins / venous insufficiency

Frequent
- Hamartoma / tumefaction of the tongue / gingivae / oral mucosa
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Breast neoplasm / tumor / carcinoma / cancer
- Heart / cardiac failure
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mutiple fractures / bone fragility
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Talipes-varus / metatarsal varus
- Thyroid neoplasm / tumor / carcinoma / cancer
- Visceral angiomatosis (excluding skin)