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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 4
2 OMIM references -
4 associated genes
63 signs/symptoms
Desmoid tumor
Mosaic variegated aneuploidy syndrome

APC BUB1
CTNNB1 BUB1B
BUB3
CEP57


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APC
APC
APC
(0.77)
(0.72)
(0.65)
BUB1
BUB3
BUB1B



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Mosaic variegated aneuploidy syndrome
BUB1 BUB1B BUB3 CEP57



Desmoid tumor
Mosaic variegated aneuploidy syndrome

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

Synonym(s):
- Warburton-Anyane-Yeboa syndrome

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic 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: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C536987


COMMON
SIGNS
- Early death / lethality
- Osteolysis / osteoclasia / bone destruction / erosions
- Polyposis of the bowel / colon / intestine
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma


Desmoid tumor
Mosaic variegated aneuploidy syndrome

Very frequent
- Anomalies of the abdominal wall
- Fibromatosis / bone fibroma
- Muscle anomalies
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Acute abdominal pain / colic
- Myalgia / muscular pain

Occasional
- Articular / joint pain / arthralgia
- Bladder and ureter anomalies
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Restricted joint mobility / joint stiffness / ankylosis
- Retinitis pigmentosa / retinal pigmentary changes
- Sepsis severe / septicemia
- Skin tumors / lumps / epidermal cysts
- Thoracic / chest pain


Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Ascitis
- Autosomal recessive inheritance
- Cataract / lens opacification
- Corneal clouding / opacity / vascularisation
- Dandy-Walker anomaly
- Dilated cerebral ventricles without hydrocephaly
- Epicanthic folds
- Glaucoma
- Increased nuchal translucency
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Polyhydramnios
- Short stature / dwarfism / nanism

Frequent
- Anomalies of eyes and vision
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Triangular face

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Acute leukemia
- Ambiguous genitalia
- Anomalies of bones / skeletal anomalies
- Anomalies of ear and hearing
- Apnea / sleep apnea
- Atrial septal defect / interauricular communication
- Cafe-au-lait spot
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clinodactyly of fifth finger
- Colon neoplasm / tumor / carcinoma / cancer
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Digestive neoplasm / tumor / carcinoma / cancer
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Duodenal atresia / stenosis / megaduodenum
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flattened nose
- Frontal bossing / prominent forehead
- High forehead
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypothyroidy
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Long / large / bulbous nose
- Low set ears / posteriorly rotated ears
- Multicystic kidney / renal dysplasia
- Myelodysplastic syndrome
- Neoplasms / tumors
- Nephroblastoma / Wilms tumor
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Seizures / epilepsy / absences / spasms / status epilepticus
- Skull / cranial anomalies
- Sloping forehead
- Upper limb segmental anomalies
- Vaginal / vulvar neoplasm / tumor / carcinoma / cancer