Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
24 signs/symptoms
Desmoid tumor
Holt-Oram syndrome

APC TBX5
CTNNB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.67)
TBX5



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Holt-Oram syndrome
TBX5



Desmoid tumor
Holt-Oram syndrome

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

Synonym(s):
- Atriodigital dysplasia type 1
- HOS
- Heart-hand syndrome type 1

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac 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: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535326

Desmoid tumor
Holt-Oram 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
- Autosomal dominant inheritance
- Wrist / carpal anomalies

Frequent
- Atrial septal defect / interauricular communication
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Fingerlike / triphalangeal thumb
- Metacarpal anomalies / Archibald's sign
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Thumb hypoplasia / aplasia / absence
- Ventricular septal defect / interventricular communication

Occasional
- Anomalies of the ribs
- Anomalous pulmonary venous return
- Atrioventricular canal
- Broad / bifid thumb
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypoplastic left heart / ventricle
- Narrow / sloping shoulders
- Patent ductus arteriosus
- Pectus excavatum
- Phocomelia
- Radioulnar synostosis
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Scoliosis
- Syndactyly of fingers / interdigital palm