MCID: CBB005
MIFTS: 31

Cobblestone Lissencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cobblestone Lissencephaly

MalaCards integrated aliases for Cobblestone Lissencephaly:

Name: Cobblestone Lissencephaly 58
Lissencephaly, Cobblestone 39
Lissencephaly Type 2 58

Characteristics:

Orphanet epidemiological data:

58
cobblestone lissencephaly
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.3
UMLS via Orphanet 72 C0431376
Orphanet 58 ORPHA51577

Summaries for Cobblestone Lissencephaly

MalaCards based summary : Cobblestone Lissencephaly, also known as lissencephaly, cobblestone, is related to muscular dystrophy-dystroglycanopathy , type a, 8 and muscular dystrophy-dystroglycanopathy , type a, 1. An important gene associated with Cobblestone Lissencephaly is RXYLT1 (Ribitol Xylosyltransferase 1), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include brain, eye and cortex, and related phenotypes are cellular and behavior/neurological

Related Diseases for Cobblestone Lissencephaly

Diseases related to Cobblestone Lissencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 8 32.4 POMGNT2 CRPPA
2 muscular dystrophy-dystroglycanopathy , type a, 1 29.0 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 FKTN
3 muscular dystrophy-dystroglycanopathy , type a, 4 28.1 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
4 lissencephaly 27.6 TMTC3 RXYLT1 POMT2 POMT1 POMK POMGNT2
5 walker-warburg syndrome 27.0 TMTC3 RXYLT1 POMT2 POMT1 POMK POMGNT2
6 muscle eye brain disease 26.5 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
7 muscular dystrophy, congenital, lmna-related 26.4 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
8 muscular dystrophy 26.1 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
9 obsolete: cobblestone lissencephaly type a 12.4
10 obsolete: cobblestone lissencephaly type c 12.4
11 obsolete: cobblestone lissencephaly type b 12.4
12 muscular dystrophy-dystroglycanopathy , type a, 10 11.8
13 muscular dystrophy-dystroglycanopathy , type a, 7 11.7
14 lissencephaly 5 11.6
15 lissencephaly 2 11.5
16 muscular dystrophy-dystroglycanopathy , type a, 3 11.4
17 muscular dystrophy-dystroglycanopathy , type a, 2 11.4
18 muscular dystrophy-dystroglycanopathy , type a, 5 11.4
19 muscular dystrophy-dystroglycanopathy , type a, 6 11.4
20 muscular dystrophy-dystroglycanopathy , type a, 11 11.4
21 muscular dystrophy-dystroglycanopathy , type a, 12 11.4
22 muscular dystrophy-dystroglycanopathy , type a, 13 11.4
23 muscular dystrophy-dystroglycanopathy , type a, 9 11.4
24 congenital muscular dystrophy-dystroglycanopathy type a 11.4
25 fukuyama type muscular dystrophy 11.4
26 hydrocephalus 10.4
27 polymicrogyria 10.4
28 muscular dystrophy-dystroglycanopathy , type c, 7 10.3 RXYLT1 CRPPA
29 congenital muscular dystrophy due to dystroglycanopathy 10.3 FKRP CRPPA
30 neural tube defects 10.2
31 hydrocephalus, congenital, 1 10.2
32 schinzel-giedion midface retraction syndrome 10.2
33 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers 10.2
34 lissencephaly 8 10.2
35 alkuraya-kucinskas syndrome 10.2
36 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
37 distal arthrogryposis 10.2
38 sensorineural hearing loss 10.2
39 gonadal dysgenesis 10.2
40 hypotonia 10.2
41 congenital amyoplasia 10.2
42 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 10.2 DAG1 CRPPA
43 spinal muscular atrophy, type iv 10.2 RXYLT1 B3GALNT2
44 autosomal recessive disease 9.9
45 lassa fever 9.9 POMK DAG1
46 cerebral degeneration 9.8 POMT1 POMGNT1 FKTN
47 polyglucosan body myopathy 1 with or without immunodeficiency 9.8 FKRP DMD
48 muscular dystrophy, limb-girdle, autosomal recessive 7 9.8 FKRP DMD
49 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 FKRP DMD
50 muscular dystrophy, limb-girdle, autosomal recessive 6 9.8 FKRP DMD

Graphical network of the top 20 diseases related to Cobblestone Lissencephaly:



Diseases related to Cobblestone Lissencephaly

Symptoms & Phenotypes for Cobblestone Lissencephaly

MGI Mouse Phenotypes related to Cobblestone Lissencephaly:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 B4GAT1 CRPPA DAG1 DMD FKRP FKTN
2 behavior/neurological MP:0005386 10.1 B4GAT1 DAG1 DMD FKRP FKTN LARGE1
3 growth/size/body region MP:0005378 10.1 B3GALNT2 B4GAT1 DAG1 DMD FKRP FKTN
4 mortality/aging MP:0010768 10.1 B3GALNT2 B4GAT1 CRPPA DAG1 DMD FKRP
5 muscle MP:0005369 9.76 B4GAT1 DAG1 DMD FKRP FKTN LARGE1
6 nervous system MP:0003631 9.73 B4GAT1 CRPPA DAG1 DMD FKRP FKTN
7 vision/eye MP:0005391 9.17 DAG1 DMD FKRP LARGE1 POMGNT1 POMT1

Drugs & Therapeutics for Cobblestone Lissencephaly

Search Clinical Trials , NIH Clinical Center for Cobblestone Lissencephaly

Genetic Tests for Cobblestone Lissencephaly

Anatomical Context for Cobblestone Lissencephaly

MalaCards organs/tissues related to Cobblestone Lissencephaly:

40
Brain, Eye, Cortex

Publications for Cobblestone Lissencephaly

Articles related to Cobblestone Lissencephaly:

(show top 50) (show all 73)
# Title Authors PMID Year
1
Endoplasmic reticulum transmembrane protein TMTC3 contributes to O-mannosylation of E-cadherin, cellular adherence, and embryonic gastrulation. 61
31851597 2020
2
B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss. 61
29791932 2018
3
Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage. 61
29360985 2018
4
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy. 61
28973161 2017
5
Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins. 61
28973932 2017
6
Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy. 61
28039900 2017
7
Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. 61
28087826 2017
8
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. 61
27773428 2016
9
Malformations of Cortical Development: From Postnatal to Fetal Imaging. 61
27670206 2016
10
Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. 61
26306834 2016
11
[Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy]. 61
26873231 2016
12
Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern. 61
26315758 2016
13
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome. 61
28116189 2016
14
ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome. 61
26087224 2015
15
Ectopic clustering of Cajal-Retzius and subplate cells is an initial pathological feature in Pomgnt2-knockout mice, a model of dystroglycanopathy. 61
26060116 2015
16
FE65 and FE65L1 amyloid precursor protein-binding protein compound null mice display adult-onset cataract and muscle weakness. 61
25757569 2015
17
miRNA-based buffering of the cobblestone-lissencephaly-associated extracellular matrix receptor dystroglycan via its alternative 3'-UTR. 61
25232965 2014
18
Cellular and axonal constituents of neocortical molecular layer heterotopia. 61
25247689 2014
19
The muscular dystrophies associated with central nervous system lesions: a brief review from a standpoint of the localization and function of causative genes. 61
25403635 2014
20
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. 61
24120487 2013
21
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia. 61
24144914 2013
22
Glial scaffold required for cerebellar granule cell migration is dependent on dystroglycan function as a receptor for basement membrane proteins. 61
24252195 2013
23
β2 and γ3 laminins are critical cortical basement membrane components: ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia. 61
22961762 2013
24
Cobblestone lissencephaly in Schinzel-Giedion syndrome. 61
22532548 2013
25
Small Rho-GTPases and cortical malformations: fine-tuning the cytoskeleton stability. 61
23524873 2013
26
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 61
23217329 2012
27
The dystrophin-glycoprotein complex in brain development and disease. 61
22626542 2012
28
A radial glia-specific role of RhoA in double cortex formation. 61
22405202 2012
29
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 61
22323514 2012
30
Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. 61
22790300 2012
31
G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination. 61
21768377 2011
32
Roles of fukutin, the gene responsible for fukuyama-type congenital muscular dystrophy, in neurons: possible involvement in synaptic function and neuronal migration. 61
21614170 2011
33
[Analysis of the clinical manifestations and magnetic resonance imaging features of 11 patients with lissencephaly]. 61
21421488 2011
34
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. 61
20961758 2011
35
Distinct functions of glial and neuronal dystroglycan in the developing and adult mouse brain. 61
20980614 2010
36
Functions of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs. 61
20518731 2010
37
Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy: two sibling cases. 61
20022722 2010
38
Neurons generated from APP/APLP1/APLP2 triple knockout embryonic stem cells behave normally in vitro and in vivo: lack of evidence for a cell autonomous role of the amyloid precursor protein in neuronal differentiation. 61
20049903 2010
39
New trends in neuronal migration disorders. 61
19264520 2010
40
Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy. 61
18834683 2009
41
Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. 61
19342235 2009
42
Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B. 61
19258295 2009
43
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. 61
18752264 2008
44
Malformations of cortical development. 61
18469675 2008
45
Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly. 61
18448648 2008
46
Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. 61
17597323 2008
47
Brain MRI features of merosin-negative congenital muscular dystrophy. 61
17991069 2007
48
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. 61
17906881 2007
49
Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development. 61
17715063 2007
50
[Genetic and clinical aspects of lissencephaly]. 61
17571022 2007

Variations for Cobblestone Lissencephaly

Expression for Cobblestone Lissencephaly

Search GEO for disease gene expression data for Cobblestone Lissencephaly.

Pathways for Cobblestone Lissencephaly

Pathways related to Cobblestone Lissencephaly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
2
Show member pathways
13.34 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE1
3
Show member pathways
11.87 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE1
4 10.76 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
5 10.6 DMD DAG1

GO Terms for Cobblestone Lissencephaly

Cellular components related to Cobblestone Lissencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.21 TMTC3 RXYLT1 POMT2 POMT1 POMK POMGNT2
2 endoplasmic reticulum membrane GO:0005789 9.88 POMT2 POMT1 POMK POMGNT2 B3GALNT2
3 endoplasmic reticulum GO:0005783 9.86 TMTC3 POMT2 POMT1 POMK POMGNT2 FKTN
4 Golgi membrane GO:0000139 9.8 RXYLT1 POMGNT1 LARGE1 FKRP B4GAT1 B3GALNT2
5 integral component of membrane GO:0016021 9.77 TMTC3 RXYLT1 POMT2 POMT1 POMK POMGNT2
6 Golgi apparatus GO:0005794 9.76 RXYLT1 POMGNT1 LARGE1 FKTN FKRP DMD
7 sarcolemma GO:0042383 9.58 FKRP DMD DAG1
8 costamere GO:0043034 9.46 DMD DAG1
9 dystrophin-associated glycoprotein complex GO:0016010 9.43 DMD DAG1
10 integral component of Golgi membrane GO:0030173 8.92 POMGNT1 LARGE1 FKTN B4GAT1

Biological processes related to Cobblestone Lissencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.81 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE1
2 protein O-linked mannosylation GO:0035269 9.65 TMTC3 RXYLT1 POMT2 POMT1 POMGNT2 LARGE1
3 muscle cell cellular homeostasis GO:0046716 9.46 LARGE1 DMD
4 mannosylation GO:0097502 9.43 POMT2 POMT1
5 skeletal muscle tissue regeneration GO:0043403 9.43 LARGE1 DMD DAG1
6 response to denervation involved in regulation of muscle adaptation GO:0014894 9.4 DMD DAG1
7 protein glycosylation GO:0006486 9.4 TMTC3 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1
8 glycoprotein biosynthetic process GO:0009101 9.37 LARGE1 FKRP
9 positive regulation of protein O-linked glycosylation GO:1904100 9.32 POMT2 POMT1

Molecular functions related to Cobblestone Lissencephaly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mannosyltransferase activity GO:0000030 9.54 TMTC3 POMT2 POMT1
2 dystroglycan binding GO:0002162 9.5 FKRP DMD DAG1
3 transferase activity, transferring glycosyl groups GO:0016757 9.5 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 B4GAT1
4 acetylglucosaminyltransferase activity GO:0008375 9.46 POMGNT2 POMGNT1 LARGE1 B3GALNT2
5 transferase activity GO:0016740 9.44 TMTC3 RXYLT1 POMT2 POMT1 POMK POMGNT2
6 glucuronosyltransferase activity GO:0015020 9.43 LARGE1 B4GAT1
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.43 TMTC3 POMT2 POMT1
8 vinculin binding GO:0017166 9.4 DMD DAG1

Sources for Cobblestone Lissencephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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