KEGG DISEASE: Polymicrogyria

DISEASE: Polymicrogyria

Entry

H00271                      Disease

Name

Polymicrogyria

Subgroup

Bilateral frontoparietal polymicrogyria (BFPP)
Bilateral perisylvian polymicrogyria, autosomal recessive (BPPR)
Bilateral temporooccipital polymicrogyria (BTOP)
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (PMGYCHA)
Polymicrogyria with or without vascular-type EDS (PMGEDSV)

Supergrp

Neuronal migration disorder [DS:H01835]

Description

Polymicrogyria (PMG) is a malformation of cortical development characterized by an excessive number of small gyri with abnormal lamination.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the nervous system
    LA05  Cerebral structural developmental anomalies
     H00271  Polymicrogyria
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00271  Polymicrogyria

Pathway

hsa04820

Cytoskeleton in muscle cells

hsa00562

Inositol phosphate metabolism

Network

nt06539 Cytoskeleton in muscle cells

Gene

(BFPP/BFPR) ADGRG1 [HSA:9289] [KO:K08450]
(BTOP) FIG4 [HSA:9896] [KO:K22913]
(PMGYCHA) PI4KA [HSA:5297] [KO:K00888]
(PMGEDSV) COL3A1 [HSA:1281] [KO:K19720]

Other DBs

ICD-11:

LA05.50

ICD-10:

Q04.8

MeSH:

D054220

OMIM:

606854 615752 612691 616531 618343

Reference

PMID:18262290

Authors

Guerrini R, Dobyns WB, Barkovich AJ

Title

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.

Journal

Trends Neurosci 31:154-62 (2008)
DOI:10.1016/j.tins.2007.12.004

Reference

PMID:15863665 (BFPP/ BFPR)

Authors

Jansen A, Andermann E

Title

Genetics of the polymicrogyria syndromes.

Journal

J Med Genet 42:369-78 (2005)
DOI:10.1136/jmg.2004.023952

Reference

PMID:24598713 (BTOP)

Authors

Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noe E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E

Title

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

Journal

Neurology 82:1068-75 (2014)
DOI:10.1212/WNL.0000000000000241

Reference

PMID:25855803 (PMGYCHA)

Authors

Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U

Title

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Journal

Hum Mol Genet 24:3732-41 (2015)
DOI:10.1093/hmg/ddv117

Reference

PMID:28742248 (PMGEDSV)

Authors

Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D, Kornak U

Title

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Journal

Am J Med Genet A 173:2534-2538 (2017)
DOI:10.1002/ajmg.a.38345

LinkDB

» Japanese version

DISEASE: Ehlers-Danlos syndrome vascular type

Entry

H02242                      Disease

Name

Ehlers-Danlos syndrome vascular type;
Ehlers-Danlos syndrome type IV

Supergrp

Ehlers-Danlos syndrome [DS:H00802]

Description

Ehlers-Danlos syndrome vascular type (EDSVASC) is an autosomal dominant life-threatening connective tissue disorder. EDSVASC causes severe fragility of connective tissues with arterial and gastrointestinal rupture. Patients typically harbor a heterozygous mutation in the COL3A1 gene, encoding type III collagen, with the rare exception of specific mutations in COL1A1.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H02242  Ehlers-Danlos syndrome vascular type
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H02242  Ehlers-Danlos syndrome vascular type

Pathway

hsa04820

Cytoskeleton in muscle cells

hsa04926

Relaxin signaling pathway

hsa04611

Platelet activation

Network

nt06539 Cytoskeleton in muscle cells

Gene

(EDSVASC) COL3A1 [HSA:1281] [KO:K19720]

Comment

The rare specific heterozygous mutations in COL1A1 are c.934C>T, p. Arg312Cys; c.1720C>T, p.Arg574Cys; and c.3277C>T, p.Arg1093Cys.

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:28306229

Authors

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B

Title

The 2017 international classification of the Ehlers-Danlos syndromes.

Journal

Am J Med Genet C Semin Med Genet 175:8-26 (2017)
DOI:10.1002/ajmg.c.31552

Reference

PMID:15127738

Authors

Germain DP, Herrera-Guzman Y

Title

Vascular Ehlers-Danlos syndrome.

Journal

Ann Genet 47:1-9 (2004)
DOI:10.1016/j.anngen.2003.07.002

Reference

PMID:10051163 (COL3A1)

Authors

Gilchrist D, Schwarze U, Shields K, MacLaren L, Bridge PJ, Byers PH

Title

Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.

Journal

Am J Med Genet 82:305-11 (1999)
DOI:10.1002/(SICI)1096-8628(19990212)82:4<305::AID-AJMG6>3.0.CO;2-C

LinkDB

» Japanese version

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