Details of Disease

General Information of Disease (ID: DISAHLVO)

Disease Name Megalencephaly-capillary malformation-polymicrogyria syndrome
Synonyms
macrocephaly cutis marmorata telangiectatica congenita; macrocephaly-capillary malformation; megalencephaly-cutis marmorata telangiectatica congenita; megalocephaly cutis marmorata telangiectatica congenita; M-CM; M-CMTC; macrocephaly-cutis marmorata telangiectatica congenita; megalencephaly cutis marmorata telangiectatica congenita; macrocephaly-cutis marmorata telangiectatica congenita syndrome; megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; MCAP; MCMTC; Megalencephaly-Capillary Malformation; macrocephaly-capillary malformation syndrome; megalencephaly-capillary malformation-polymicrogyria syndrome; megalencephaly-cutis marmorata telangiectatica congenita syndrome; megalencephaly-capillary malformation syndrome; MCM
Definition
A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.
Disease Hierarchy
DISWECW7: Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
DISD715V: Hereditary neurological disease
DISAHLVO: Megalencephaly-capillary malformation-polymicrogyria syndrome
Disease Identifiers
MONDO ID
MONDO_0011240
MESH ID
C536142
UMLS CUI
C1865285
OMIM ID
602501
MedGen ID
355421
Orphanet ID
60040
SNOMED CT ID
700063005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PIK3CA TTEUNMR Limited Genetic Variation [1]
AKT3 TTO6SGY moderate CausalMutation [2]
PIK3CA TTEUNMR Definitive Somatic mosaicism [3]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MMUT OTBBBV70 Limited Biomarker [4]
PIK3R2 OTZSUQK5 moderate CausalMutation [2]
CDC45 OT6NNLOD Strong Biomarker [4]
MCM10 OTV0O3JN Strong Biomarker [4]
SYNGAP1 OT41HVYQ Strong Genetic Variation [5]
PIK3CA OTTOMI8J Definitive Somatic mosaicism [3]
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⏷ Show the Full List of 6 DOT(s)

References

1 Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.Am J Med Genet A. 2020 Jan;182(1):162-168. doi: 10.1002/ajmg.a.61403. Epub 2019 Nov 15.
2 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.BMC Med Genet. 2017 Jan 13;18(1):4. doi: 10.1186/s12881-016-0363-6.
3 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331.
4 Fine-tuning of the replisome: Mcm10 regulates fork progression and regression.Cell Cycle. 2019 May;18(10):1047-1055. doi: 10.1080/15384101.2019.1609833. Epub 2019 May 5.
5 Neurocutaneous vascular syndromes.Childs Nerv Syst. 2010 Oct;26(10):1407-15. doi: 10.1007/s00381-010-1201-3. Epub 2010 Jun 27.