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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
37 signs/symptoms
Desmoid tumor
Branchio-oculo-facial syndrome

APC TFAP2A
CTNNB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APC
CTNNB1
(0.79)
(0.73)
TFAP2A
TFAP2A



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Branchio-oculo-facial syndrome
TFAP2A



Desmoid tumor
Branchio-oculo-facial syndrome

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

Synonym(s):
- BOFS

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic 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: no data available
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Megaureter / hydronephrosis / pyeloureteral junction syndrome


Desmoid tumor
Branchio-oculo-facial 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
- 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
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Conductive deafness / hearing loss
- Dermoid sinus / dimple / pit (excluding sacral)
- External ear anomalies
- Low set ears / posteriorly rotated ears
- Philtrum deeply grooved
- Protruding lips
- Retinoschisis / retinal / chorioretinal coloboma
- Skin hypoplasia / aplasia / atrophy

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Anodontia / oligodontia / hypodontia
- Broad nose / nasal bridge
- Coloboma of iris
- Complete / partial microdontia
- Defect / anomaly of lacrimal system
- Dolichocephaly / scaphocephaly
- Dysplastic / thick / grooved fingernails
- High vaulted / narrow palate
- Intrauterine growth retardation
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Premature greying of hair
- Short columella / depressed nasal tip
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Cataract / lens opacification
- Cleft lip and palate
- Lip pits / fistulae
- Microcornea
- Multicystic kidney / renal dysplasia
- Preaxial polydactyly (hand)
- Ptosis
- Strabismus / squint