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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
30 signs/symptoms
Desmoid tumor
Chondrodysplasia, Blomstrand type

APC PTH1R
CTNNB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.65)
PTH1R



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Chondrodysplasia, Blomstrand type
PTH1R



Desmoid tumor
Chondrodysplasia, Blomstrand type

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

Synonym(s):
- BLC
- Blomstrand lethal chondrodysplasia

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537914

Desmoid tumor
Chondrodysplasia, Blomstrand type

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
- Abnormal vertebral size / shape
- Advanced bone age
- Autosomal recessive inheritance
- Clavicle absent / abnormal
- Depressed nasal bridge
- Epiphyseal anomaly
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Low set ears / posteriorly rotated ears
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Osteosclerosis / osteopetrosis / bone condensation
- Polyhydramnios
- Prematurity
- Proptosis / exophthalmos
- Rib structure anomalies
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Stillbirth / neonatal death

Frequent
- Anteverted nares / nostrils
- Bowed diaphysis / diaphyses / long bones
- Cataract / lens opacification
- Hydrops fetalis
- Long philtrum
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Metacarpal anomalies / Archibald's sign
- Premature eruption of teeth / natal teeth
- Synostosis