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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
9 OMIM references -
9 associated genes
18 signs/symptoms
Desmoid tumor
Usher syndrome type 1

APC CDH23
CTNNB1 CIB2
MYO7A
PCDH15
USH1C
USH1E
()
USH1G
USH1H
()
USH1K
()


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.72)
MYO7A



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Usher syndrome type 1
CDH23 CIB2 MYO7A PCDH15 USH1C USH1E
USH1G USH1H USH1K



Desmoid tumor
Usher syndrome type 1

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

Synonym(s):
- USH1

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the eye and adnexa -

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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Retinitis pigmentosa / retinal pigmentary changes


Desmoid tumor
Usher syndrome type 1

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
- Sepsis severe / septicemia
- Skin tumors / lumps / epidermal cysts
- Thoracic / chest pain


Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Night blindness / hemeralopia
- Sensorineural deafness / hearing loss
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Visual loss / blindness / amblyopia

Frequent
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hypermetropia
- Psychosis / schizophrenia / maniac disorder

Occasional
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Delirium / hallucination
- Enamel anomaly
- Humour troubles / anxiety / depression / apathy / euphoria / irritability