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Megalencephaly-capillary malformation-polymicrogyria syndrome
1 OMIM reference -
1 associated gene
36 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Autosomal agammaglobulinemia
7 OMIM references -
8 associated genes
32 signs/symptoms
Megalencephaly-capillary malformation-polymicrogyria syndrome
Autosomal agammaglobulinemia

PIK3CA
(UniProt - OMIM)
 BLNK
(UniProt - OMIM)
CD79A
(UniProt - OMIM)
CD79B
(UniProt - OMIM)
IGHM
(UniProt - OMIM)
IGLL1
(UniProt - OMIM)
LRRC8A
(UniProt - OMIM)
PIK3R1
(UniProt - OMIM)
TCF3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PIK3CA
(0.96)
PIK3R1


Citations in the biomedical literature:


Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA
Autosomal agammaglobulinemia
BLNK CD79A CD79B IGHM IGLL1 LRRC8A
PIK3R1 TCF3



Megalencephaly-capillary malformation-polymicrogyria syndrome
Autosomal agammaglobulinemia

Synonym(s):
- MCAP
- MCM
- MCMTC
- Macrocephaly - cutis marmorata telangiectatica congenita
- Macrocephaly-capillary malformation syndrome
- Megalencephaly - cutis marmorata telangiectatica congenita
- Megalencephaly-capillary malformation syndrome
Synonym(s):
- Agammaglobulinemia, non-Bruton type
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
7 OMIM references -
No MeSH references
COMMON
SIGNS 		- Autosomal dominant inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay

Megalencephaly-capillary malformation-polymicrogyria syndrome
Autosomal agammaglobulinemia

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
- 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


Very frequent
- Acute diarrhea
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Asthenia / fatigue / weakness
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Chronic / relapsing otitis
- Cough
- Cutaneous rash
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections

Frequent
- Arthritis / synovitis / synovial proliferation
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Osteomyelitis / osteitis / periostitis / spondylodisciitis

Occasional
- Bronchial dilation / dilatation / bronchiectasia
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Dehydration / hydroelectrolytic loss
- Early death / lethality
- Epicanthic folds
- External ear anomalies
- Hepatitis / icterus / cholestasis
- High vaulted / narrow palate
- Hypertelorism
- Malabsorption / chronic diarrhea / steatorrhea
- Meningitis / meningeal syndrome
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sepsis severe / septicemia
- Warts / papillomas