KEGG DISEASE: Occipital cortical malformation

KEGG

DISEASE: Occipital cortical malformation

Entry

H02501                      Disease

Name

Occipital cortical malformation

Description

Occipital cortical malformation (OCCM) is an autosomal recessive disorder caused by mutations in LAMC3. OCCM is characterized by thickening and smoothening of the occipital cortex along with polymicrogyria. LAMC3 gene encodes the gamma 3 chain of the laminin family proteins, which play a crucial part in cell differentiation, migration, and adhesion.

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
     H02501  Occipital cortical malformation
Pathway-based classification of diseases [BR:br08402]
Cellular processes
  nt06548  Integrin signaling
   H02501  Occipital cortical malformation

Pathway

Integrin signaling

Network

nt06548 Integrin signaling

Gene

LAMC3 [HSA:10319] [KO:K06247]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Barak T, Kwan KY, Louvi A, Demirbilek V, Saygi S, Tuysuz B, Choi M, Boyaci H, Doerschner K, Zhu Y, Kaymakcalan H, Yilmaz S, Bakircioglu M, Caglayan AO, Ozturk AK, Yasuno K, Brunken WJ, Atalar E, Yalcinkaya C, Dincer A, Bronen RA, Mane S, Ozcelik T, Lifton RP, Sestan N, Bilguvar K, Gunel M

Title

Recessive LAMC3 mutations cause malformations of occipital cortical development.

Journal

Nat Genet 43:590-4 (2011)
DOI:10.1038/ng.836

Reference

Authors

Urgen BM, Topac Y, Ustun FS, Demirayak P, Oguz KK, Kansu T, Saygi S, Ozcelik T, Boyaci H, Doerschner K

Title

Homozygous LAMC3 mutation links to structural and functional changes in visual attention networks.

Journal

Neuroimage 190:242-253 (2019)
DOI:10.1016/j.neuroimage.2018.03.077

LinkDB

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