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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
30 signs/symptoms
Desmoid tumor
X-linked distal arthrogryposis multiplex congenita

APC UBA1
CTNNB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.52)
UBA1



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
X-linked distal arthrogryposis multiplex congenita
UBA1



Desmoid tumor
X-linked distal arthrogryposis multiplex congenita

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

Synonym(s):
- SMAX2
- Spinal muscular atrophy with arthrogryposis
- X-linked infantile spinal muscular atrophy
- X-linked spinal muscular atrophy type 2

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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: -
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535380


COMMON
SIGNS
- Restricted joint mobility / joint stiffness / ankylosis


Desmoid tumor
X-linked distal arthrogryposis multiplex congenita

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
- Retinitis pigmentosa / retinal pigmentary changes
- Sepsis severe / septicemia
- Skin tumors / lumps / epidermal cysts
- Thoracic / chest pain


Very frequent
- Abnormal gait
- Camptodactyly of fingers
- X-linked recessive inheritance

Frequent
- Broad nose / nasal bridge
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Dolichocephaly / scaphocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Long philtrum
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Proximally set thumb
- Scoliosis
- Short neck
- Short / small nose
- Simian crease / transverse / unique palmar crease
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Abnormally placed nipples
- Dermoid sinus / dimple / pit (excluding sacral)
- Excess nuchal skin without pterygium colli
- Long / large ear
- Micropenis / small penis / agenesis
- Mouth held open
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Thin / hypoplastic / hyperconvex fingernails