macrocephaly-capillary malformation syndrome
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:nervous_system
circulatory system |
| gptkbp:causedBy |
PIK3CA gene mutation
|
| gptkbp:complication |
hydrocephalus
intellectual disability seizures |
| gptkbp:firstDescribed |
1997
|
| gptkbp:hasGeneticTest |
PIK3CA gene sequencing
|
| gptkbp:hasOrphanetID |
ORPHA:2512
|
| https://www.w3.org/2000/01/rdf-schema#label |
macrocephaly-capillary malformation syndrome
|
| gptkbp:ICD-10_code |
Q87.3
|
| gptkbp:inheritance |
sporadic
|
| gptkbp:OMIM |
602501
|
| gptkbp:otherName |
gptkb:M-CM_syndrome
MCAP syndrome macrocephaly-capillary malformation |
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
developmental delay
macrocephaly asymmetry of the body connective tissue dysplasia capillary malformations |
| gptkbp:treatment |
supportive care
symptomatic management |
| gptkbp:bfsParent |
gptkb:macrocephaly-hemangioma_syndrome
|
| gptkbp:bfsLayer |
7
|