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2 OMIM references -
2 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
36 signs/symptoms
Infantile myofibromatosis
Megalencephaly-capillary malformation-polymicrogyria syndrome

NOTCH3 PIK3CA
PDGFRB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PDGFRB
(0.52)
PIK3CA



Citations in the biomedical literature:


Infantile myofibromatosis
NOTCH3 PDGFRB
Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA



Infantile myofibromatosis
Megalencephaly-capillary malformation-polymicrogyria syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- MCAP
- MCM
- MCMTC
- Macrocephaly - cutis marmorata telangiectatica congenita
- Macrocephaly-capillary malformation syndrome
- Megalencephaly - cutis marmorata telangiectatica congenita
- Megalencephaly-capillary malformation syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic

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


COMMON
SIGNS
- Autosomal dominant inheritance


Infantile myofibromatosis
Megalencephaly-capillary malformation-polymicrogyria syndrome

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
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macrostomia / big mouth
- Polydactyly of toes
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Telangiectasiae of the skin
- Upper limb polydactyly / hexadactyly
- Visceral angiomatosis (excluding skin)

Frequent
- Broad cheeks / cherub-like / cherubin face
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cutis marmorata / marbled skin / livedo
- Dilated cerebral ventricles without hydrocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- High forehead
- Hydrocephaly
- Hyperextensible joints / articular hyperlaxity
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macules
- Structural anomalies of the nervous system

Occasional
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anomalies of mouth, lip and philtrum
- Arnold-Chiari anomaly
- Cardiac rhythm disorder / arrhythmia
- Congenital cardiac anomaly / malformation / cardiopathy
- Deepset eyes / enophthalmos
- Depressed nasal bridge
- Neoplasms / tumors
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Transient cerebral ischemia / stroke