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2 OMIM references -
2 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 1
20 associated genes
No signs/symptoms info
Infantile myofibromatosis
Precursor T-cell acute lymphoblastic leukemia

NOTCH3 ABL1
PDGFRB BCR
CDKN2A
CNOT3
DDX3X
FLT3
HNRNPH1
MLLT10
MYB
MYC
PICALM
STIL
TAL1
TCL1A
TLX1
TLX3
TRA
()
TRB
TRD
TRG
()


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NOTCH3
(0.63)
ABL1



Citations in the biomedical literature:


Infantile myofibromatosis
NOTCH3 PDGFRB
Precursor T-cell acute lymphoblastic leukemia
ABL1 BCR CDKN2A CNOT3 DDX3X FLT3
HNRNPH1 MLLT10 MYB MYC PICALM STIL
TAL1 TCL1A TLX1 TLX3 TRA TRB
TRD TRG



Infantile myofibromatosis
Precursor T-cell acute lymphoblastic leukemia

Synonym(s):
(no synonyms)

Synonym(s):
- Precursor T-cell acute lymphoblastic leukemia/lymphoma
- Precursor T-cell acute lymphocytic leukemia
- Precursor T-cell acute lymphocytic leukemia/lymphoma
- T-ALL

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Neoplasms -

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:
(no data available)

External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

Infantile myofibromatosis

Very frequent
- Autosomal dominant inheritance
- 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


Precursor T-cell acute lymphoblastic leukemia

(no data available)