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Infantile myofibromatosis
2 OMIM references -
2 associated genes
98 connected diseases
31 signs/symptoms
Disease Type of connection
Idiopathic hypereosinophilic syndrome
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
CADASIL
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Juvenile myelomonocytic leukemia
Precursor B-cell acute lymphoblastic leukemia
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
LEOPARD syndrome
Noonan syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Cowden syndrome
Early-onset autosomal dominant Alzheimer disease
Familial isolated dilated cardiomyopathy
Metachondromatosis
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Autosomal agammaglobulinemia
Gastrointestinal stromal tumor
Myeloid neoplasm associated with PDGFRA rearrangement
SHORT syndrome
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Tetralogy of Fallot
Capillary malformation - arteriovenous malformation
Dermatofibrosarcoma protuberans
Familial multiple meningioma
Parkes Weber syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Pilocytic astrocytoma
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Bannayan-Riley-Ruvalcaba syndrome
Hereditary breast and ovarian cancer syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Giant cell glioblastoma
Gliosarcoma
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Autosomal dominant limb-girdle muscular dystrophy type 1C
Rippling muscle disease
Romano-Ward syndrome
Autosomal dominant macrothrombocytopenia
Fetal and neonatal alloimmune thrombocytopenia
Glanzmann thrombasthenia
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Giant cell arteritis
Granulomatosis with polyangiitis
Pediatric systemic lupus erythematosus
T-B+ severe combined immunodeficiency due to CD45 deficiency
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Chronic myeloid leukemia
Congenital mesoblastic nephroma
Fibrosarcoma
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Precursor T-cell acute lymphoblastic leukemia
Synpolydactyly type 2
Xanthinuria type I
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Autosomal dominant nonsyndromic intellectual deficit
Acute promyelocytic leukemia
Adams-Oliver syndrome
Autosomal dominant hyper-IgE syndrome
Behavioral variant of frontotemporal dementia
CLOVE syndrome
Hemimegalencephaly
Hereditary nonpolyposis colon cancer
Laron syndrome with immunodeficiency
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Progressive non-fluent aphasia
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Semantic dementia
Distal 22q11.2 microdeletion syndrome
Synonym(s):
(no synonyms)

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

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
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
NOTCH3 Q9UM47600276
PDGFRB P09619173410
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