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2 OMIM references -
2 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
9 associated genes
13 signs/symptoms
Infantile myofibromatosis
Tetralogy of Fallot

NOTCH3 CITED2
PDGFRB GATA4
GATA5
GATA6
GDF1
GJA5
JAG1
NKX2-5
ZFPM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NOTCH3
(0.89)
JAG1



Citations in the biomedical literature:


Infantile myofibromatosis
NOTCH3 PDGFRB
Tetralogy of Fallot
CITED2 GATA4 GATA5 GATA6 GDF1 GJA5
JAG1 NKX2-5 ZFPM2



Infantile myofibromatosis
Tetralogy of Fallot

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D013771


COMMON
SIGNS
- Autosomal dominant inheritance


Infantile myofibromatosis
Tetralogy of Fallot

Very frequent
- Bone cyst
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Fibromatosis / bone fibroma
- Metaphyseal anomaly
- Muscle anomalies
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Anomalies of chest / thorax / trunk
- Face / facial anomalies
- Intestinal / colonic anomaly
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Periarticular tissue anomaly / extraarticular calcifications
- Skull / cranial anomalies
- Thickened / hypertrophic / fibromatous gingivae

Occasional
- Anomalies of eyes and vision
- Anomalies of spine, vertebrae and pelvis
- Autosomal recessive inheritance
- Benign tumor of the brain / nervous system
- Chronic skin infection / ulcerations / ulcers / cancrum
- Early death / lethality
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypercalcemia
- Intestinal obstruction / ileus
- Irregular / in bands / reticular skin hyperpigmentation
- Osteolysis / osteoclasia / bone destruction / erosions
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Renal / kidney anomalies
- Restricted joint mobility / joint stiffness / ankylosis
- Sacro-coccyx / sacrum anomaly
- Tracheo-esophageal fistula / esophageal atresia / stenosis


Very frequent
- Broad forehead
- Clinodactyly of fifth finger
- Intrauterine growth retardation
- Long / large / bulbous nose
- Short hand / brachydactyly

Frequent
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Dolichocephaly / scaphocephaly
- Flat supraorbital ridge
- Proptosis / exophthalmos
- Tetralogy of Fallot / trilogy of Fallot
- Thin / retracted lips
- Undescended / ectopic testes / cryptorchidia / unfixed testes