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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
32 signs/symptoms
Desmoid tumor
2q23.1 microdeletion syndrome

APC MBD5
CTNNB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APC
(0.63)
MBD5



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
2q23.1 microdeletion syndrome
MBD5



Desmoid tumor
2q23.1 microdeletion syndrome

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

Synonym(s):
- Del(2)(q23.1)
- Monosomy 2q23.1
- Pseudo-Angelman syndrome

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic 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: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic

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

Desmoid tumor
2q23.1 microdeletion 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
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tics / stereotypias

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Auto-aggressivity / auto-mutilation
- Brachycephaly / flat occiput
- Broad forehead
- Bulimia / hyperphagia
- Clinodactyly of fifth finger
- Coarse face
- Constipation
- Everted lower lip
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High arched eyebrows
- Hirsutism / hypertrichosis / Increased body hair
- Hypotonia
- Microcephaly
- Mid-facial hypoplasia / short / small midface
- Mouth held open
- Pseudobulbar signs / spasmodic laugh and cry
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Sleep and vigilance disorders
- Synophris / synophrys
- Tented upper lip
- Wide space between 1st-2nd toes

Occasional
- Complete / partial macrodontia
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Micropenis / small penis / agenesis
- Undescended / ectopic testes / cryptorchidia / unfixed testes