MCID: WLK001
MIFTS: 59

Walker-Warburg Syndrome

Categories: Rare diseases, Muscle diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Walker-Warburg Syndrome

MalaCards integrated aliases for Walker-Warburg Syndrome:

Name: Walker-Warburg Syndrome 12 49 24 55 51 14
Hard Syndrome 12 49 24 55
Walker-Warburg Congenital Muscular Dystrophy 24 28 69
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 12 24
Cod-Md Syndrome 49 24
Chemke Syndrome 49 24
Muscular Dystrophy-Dystroglycanopathy [with Brain and Eye Anomalies], Type a 24
Cerebroocular Dysplasia Muscular Dystrophy Syndrome 49
Muscular Dystrophy-Dystroglycanopathy , Type a 24
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome 55
Hydrocephalus, Agyria, and Retinal Dysplasia 24
Muscular Dystrophy-Dystroglycanopathy Type a 36
Hydrocephalus, Agyria and Retinal Dysplasia 49
Cerebroocular Dysgenesis 49
Hard +/- E Syndrome 49
Warburg Syndrome 49
Pagon Syndrome 49
Mddga 24
Wws 55

Characteristics:

Orphanet epidemiological data:

55
walker-warburg syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Walker-Warburg Syndrome

NIH Rare Diseases : 49 Walker-Warburg syndrome (WWS) is a severe form of congenitalmuscular dystrophy associated with brain and eye abnormalities. Signs and symptoms are typically present at birth and include hypotonia, muscle weakness, developmental delay, intellectual disability and occasional seizures. It is also associated with lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities, and other abnormalities. Most children do not survive beyond the age of three years. It may be caused by mutations in any of several genes including the POMT1, POMT2 and FKRP genes, although in many individuals the genetic cause is unknown. WWS is inherited in an autosomal recessive manner. No specific treatment is available; management is generally supportive and preventive. Last updated: 3/23/2011

MalaCards based summary : Walker-Warburg Syndrome, also known as hard syndrome, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and lissencephaly, and has symptoms including hydrocephalus, retinal detachment and retinal dystrophy. An important gene associated with Walker-Warburg Syndrome is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Metabolism. Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are cellular and behavior/neurological

Genetics Home Reference : 24 Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. Because of the severity of the problems caused by Walker-Warburg syndrome, most affected individuals do not survive past age 3.

Related Diseases for Walker-Warburg Syndrome

Diseases related to Walker-Warburg Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 33.8 FKRP FKTN LARGE1 POMGNT1 POMT1 POMT2
2 lissencephaly 32.9 DAG1 FKRP FKTN
3 muscular dystrophy-dystroglycanopathy , type c, 1 32.5 GMPPB POMT1 POMT2
4 muscular dystrophy-dystroglycanopathy , type a, 4 32.4 DAG1 DMD FKRP FKTN LAMA2 LARGE1
5 limb-girdle muscular dystrophy 30.6 DMD FKRP FKTN SGCA
6 muscular dystrophy, congenital, lmna-related 30.5 B3GNT2 DAG1 FKRP FKTN LAMA2 POMGNT1
7 autosomal recessive limb-girdle muscular dystrophy 30.5 DMD FKRP POMT1 SGCA
8 muscular dystrophy, duchenne type 30.2 DAG1 DMD FKTN LAMA2 SGCA
9 muscular dystrophy 29.2 B3GALNT2 DAG1 DMD FKRP FKTN GMPPB
10 muscle eye brain disease 28.3 B3GALNT2 B4GAT1 DAG1 DMD FKRP FKTN
11 palmer pagon syndrome 12.0
12 muscular dystrophy-dystroglycanopathy , type a, 3 11.9
13 muscular dystrophy-dystroglycanopathy , type a, 2 11.9
14 muscular dystrophy-dystroglycanopathy , type a, 5 11.9
15 muscular dystrophy-dystroglycanopathy , type a, 6 11.9
16 muscular dystrophy-dystroglycanopathy , type a, 7 11.9
17 muscular dystrophy-dystroglycanopathy , type a, 8 11.9
18 muscular dystrophy-dystroglycanopathy , type a, 10 11.9
19 muscular dystrophy-dystroglycanopathy , type a, 11 11.9
20 muscular dystrophy-dystroglycanopathy , type a, 12 11.9
21 muscular dystrophy-dystroglycanopathy , type a, 13 11.9
22 muscular dystrophy-dystroglycanopathy , type a, 9 11.9
23 muscular dystrophy-dystroglycanopathy , type a, 14 11.9
24 cerebellar hypoplasia 11.2
25 muscular dystrophy, congenital, merosin-positive 11.2
26 muscular dystrophy-dystroglycanopathy , type b, 1 11.2
27 congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 10.9
28 fukuyama type muscular dystrophy 10.6 FKRP FKTN
29 muscular dystrophy-dystroglycanopathy , type c, 4 10.6 FKRP FKTN POMT2
30 muscular dystrophy-dystroglycanopathy , type c, 2 10.5 GMPPB POMT1 POMT2
31 isolated hyperckemia 10.5 DMD FKRP
32 congenital nervous system abnormality 10.5 FKTN POMGNT1 POMT1
33 congenital muscular dystrophy without intellectual disability 10.5 FKRP FKTN ISPD POMT1
34 muscular dystrophy, limb-girdle, type 2l 10.5 FKRP FKTN POMT1 POMT2
35 muscular dystrophy-dystroglycanopathy , type c, 9 10.5 DAG1 GMPPB
36 muscular dystrophy-dystroglycanopathy , type c, 14 10.5 GMPPB ISPD
37 muscular dystrophy-dystroglycanopathy , type c, 7 10.4 GMPPB ISPD
38 cardiomyopathy, dilated, 3b 10.4 DMD SGCA
39 muscular dystrophy-dystroglycanopathy , type c, 5 10.4 FKRP LAMA2 POMGNT2
40 muscular dystrophy-dystroglycanopathy , type c, 3 10.4 GMPPB POMGNT1
41 muscular dystrophy, limb-girdle, type 2c 10.4 DAG1 DMD SGCA
42 muscular dystrophy, limb-girdle, type 2f 10.4 DMD FKRP SGCA
43 hydrocephalus 10.4
44 cardiomyopathy, dilated, 1d 10.4 DAG1 DMD LAMA2
45 cardiomyopathy, dilated, 1a 10.4 DAG1 DMD LAMA2
46 muscular dystrophy, limb-girdle, type 2b 10.4 DMD FKRP SGCA
47 muscular dystrophy, limb-girdle, type 2d 10.4 FKRP SGCA
48 cardiomyopathy, dilated, 1b 10.3 DAG1 DMD FKTN LAMA2
49 ablepharon-macrostomia syndrome 10.3 FKRP FKTN LARGE1 POMGNT1 POMT1
50 retinitis 10.3

Graphical network of the top 20 diseases related to Walker-Warburg Syndrome:



Diseases related to Walker-Warburg Syndrome

Symptoms & Phenotypes for Walker-Warburg Syndrome

Human phenotypes related to Walker-Warburg Syndrome:

55 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000238
2 retinal detachment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000541
3 retinal dystrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000556
4 optic atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000648
5 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
6 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
7 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
8 hyporeflexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001265
9 areflexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001284
10 pachygyria 55 31 hallmark (90%) Very frequent (99-80%) HP:0001302
11 cerebellar hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001321
12 muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001324
13 specific learning disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001328
14 lissencephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001339
15 aplasia/hypoplasia involving the skeletal musculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0001460
16 polymicrogyria 55 31 hallmark (90%) Very frequent (99-80%) HP:0002126
17 skeletal muscle atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003202
18 muscular dystrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003560
19 macrogyria 55 31 hallmark (90%) Very frequent (99-80%) HP:0007227
20 chorioretinal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0007731
21 retinal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0007973
22 metatarsus valgus 55 31 hallmark (90%) Very frequent (99-80%) HP:0010508
23 abnormal aldolase level 55 31 hallmark (90%) Very frequent (99-80%) HP:0012400
24 abnormal levels of creatine kinase in blood 55 31 hallmark (90%) Very frequent (99-80%) HP:0040081
25 abnormal lactate dehydrogenase activity 55 31 hallmark (90%) Very frequent (99-80%) HP:0045040
26 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
27 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
28 glaucoma 55 31 frequent (33%) Frequent (79-30%) HP:0000501
29 anophthalmia 55 31 frequent (33%) Frequent (79-30%) HP:0000528
30 microphthalmia 55 31 frequent (33%) Frequent (79-30%) HP:0000568
31 agenesis of corpus callosum 55 31 frequent (33%) Frequent (79-30%) HP:0001274
32 dandy-walker malformation 55 31 frequent (33%) Frequent (79-30%) HP:0001305
33 absent septum pellucidum 55 31 frequent (33%) Frequent (79-30%) HP:0001331
34 corneal opacity 55 31 frequent (33%) Frequent (79-30%) HP:0007957
35 hypoplasia of penis 55 31 frequent (33%) Frequent (79-30%) HP:0008736
36 submucous cleft hard palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000176
37 bifid uvula 55 31 occasional (7.5%) Occasional (29-5%) HP:0000193
38 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
39 posteriorly rotated ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000358
40 low-set ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000369
41 protruding ear 55 31 occasional (7.5%) Occasional (29-5%) HP:0000411
42 microcornea 55 31 occasional (7.5%) Occasional (29-5%) HP:0000482
43 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
44 iris coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000612
45 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
46 abnormality of the optic nerve 55 Very frequent (99-80%)
47 ventriculomegaly 55 Very frequent (99-80%)
48 abnormality of neuronal migration 55 Very frequent (99-80%)
49 abnormality of the cerebellar vermis 55 Very frequent (99-80%)
50 abnormal cortical gyration 55 Very frequent (99-80%)

UMLS symptoms related to Walker-Warburg Syndrome:


seizures

MGI Mouse Phenotypes related to Walker-Warburg Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 FKRP FKTN ISPD LAMA2 LAMB2 POMGNT1
2 behavior/neurological MP:0005386 10.21 B3GNT2 B4GAT1 COL4A1 DAG1 DMD FKRP
3 growth/size/body region MP:0005378 10.18 B3GNT2 COL4A1 DAG1 DMD FKRP FKTN
4 homeostasis/metabolism MP:0005376 10.1 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
5 immune system MP:0005387 10 LARGE1 POMT1 SGCA B3GNT2 B4GAT1 COL4A1
6 mortality/aging MP:0010768 10 B4GAT1 COL4A1 DAG1 ISPD LAMA2 LAMB2
7 muscle MP:0005369 9.7 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
8 nervous system MP:0003631 9.5 COL4A1 DAG1 DMD FKRP FKTN ISPD

Drugs & Therapeutics for Walker-Warburg Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Walker-Warburg Syndrome

Genetic Tests for Walker-Warburg Syndrome

Genetic tests related to Walker-Warburg Syndrome:

# Genetic test Affiliating Genes
1 Walker-Warburg Congenital Muscular Dystrophy 28

Anatomical Context for Walker-Warburg Syndrome

MalaCards organs/tissues related to Walker-Warburg Syndrome:

38
Brain, Eye, Skeletal Muscle, Testis, Kidney

Publications for Walker-Warburg Syndrome

Articles related to Walker-Warburg Syndrome:

(show top 50) (show all 127)
# Title Authors Year
1
Bilateral total retinal detachment at birth: a case report of Walker-Warburg syndrome. ( 29386918 )
2018
2
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. ( 28815891 )
2017
3
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. ( 29337005 )
2017
4
Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome. ( 29187032 )
2017
5
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. ( 28980384 )
2017
6
Walker-Warburg syndrome with gonadal dysgenesis: A rare association. ( 28488658 )
2017
7
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome. ( 28116189 )
2016
8
Post Mortem Diagnostic Exome Sequencing Identifies a de novo TUBB3 Alteration in a Newborn with Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome. ( 27490173 )
2016
9
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. ( 26495167 )
2015
10
ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome. ( 26087224 )
2015
11
Cochlear malformation and sensorineural hearing loss in the Walker-Warburg Syndrome. ( 25592765 )
2015
12
Prenatal imaging diagnosis of cobblestone lissencephaly associated with Walker Warburg syndrome based on a specific sonographic pattern. ( 26315758 )
2015
13
Perioperative considerations in Walker-Warburg syndrome. ( 26401279 )
2015
14
Absence of I+- and I^-dystroglycan is associated with Walker-Warburg syndrome. ( 25934851 )
2015
15
Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome. ( 26265907 )
2015
16
Walker-Warburg syndrome: rare congenital muscular dystrophy associated with brain and eye abnormalities. ( 25488038 )
2014
17
Anesthesia for a child with Walker-Warburg syndrome. ( 24794457 )
2014
18
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. ( 24120487 )
2013
19
Walker Warburg syndrome associated with microphthalmos and megalophthalmos: A rare combination. ( 24082679 )
2013
20
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. ( 23877401 )
2013
21
Missense mutations in I^-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. ( 23359570 )
2013
22
Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. ( 22790300 )
2012
23
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. ( 22958903 )
2012
24
Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. ( 22002842 )
2012
25
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. ( 22522420 )
2012
26
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. ( 22522421 )
2012
27
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. ( 21625620 )
2011
28
Walker-Warburg syndrome. ( 22691590 )
2011
29
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. ( 20069672 )
2010
30
A case study on Walker-Warburg syndrome. ( 20150777 )
2010
31
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. ( 20236121 )
2010
32
Increased apoptosis of myoblasts in Drosophila model for the Walker-Warburg syndrome. ( 20644630 )
2010
33
Two cases of Walker-Warburg syndrome complicated by hydrocephalus. ( 20516736 )
2010
34
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. ( 19519795 )
2009
35
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. ( 19266496 )
2009
36
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome. ( 19222032 )
2009
37
Walker-Warburg Syndrome Manifesting as Leopard Spot Retinopathy, Retinal Detachment, and Microphthalmia. ( 19791710 )
2009
38
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. ( 19639522 )
2009
39
POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo. ( 18490429 )
2008
40
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. ( 18752264 )
2008
41
Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. ( 18069971 )
2008
42
Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. ( 18923033 )
2008
43
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. ( 18640039 )
2008
44
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. ( 18177472 )
2008
45
A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. ( 17161965 )
2007
46
Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families. ( 17079174 )
2007
47
The Walker-Warburg syndrome with cleft lip and palate. ( 17304384 )
2007
48
Expression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndrome. ( 17456771 )
2007
49
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. ( 17436019 )
2007
50
Walker-Warburg syndrome. ( 16887026 )
2006

Variations for Walker-Warburg Syndrome

ClinVar genetic disease variations for Walker-Warburg Syndrome:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh37 Chromosome 9, 108366768: 108366768
2 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh37 Chromosome 9, 134398416: 134398416
3 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
4 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh37 Chromosome 19, 47260193: 47260193
5 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh37 Chromosome 19, 47260071: 47260071
6 FKTN NM_001079802.1(FKTN): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs746763506 GRCh38 Chromosome 9, 105604452: 105604452
7 FKRP NM_024301.4(FKRP): c.970G> T (p.Glu324Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886044183 GRCh37 Chromosome 19, 47259677: 47259677
8 FKRP NM_024301.4(FKRP): c.-39-2934_564del deletion Pathogenic GRCh38 Chromosome 19, 46752478: 46756014
9 FKRP NM_024301.4(FKRP): c.1083C> A (p.Tyr361Ter) single nucleotide variant Pathogenic rs1060502109 GRCh38 Chromosome 19, 46756533: 46756533
10 POMT1 NM_007171.3(POMT1): c.1427T> G (p.Leu476Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 134393920: 134393920
11 FKRP NM_024301.4(FKRP): c.158_162dup (p.Glu55Cysfs) duplication Pathogenic GRCh38 Chromosome 19, 46755608: 46755612
12 FKRP NM_024301.4(FKRP): c.142delC (p.Arg48Valfs) deletion Pathogenic GRCh38 Chromosome 19, 46755592: 46755592

Copy number variations for Walker-Warburg Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 247187 9 129300000 134900000 Copy number POMT1 Walker-Warburg syndrome

Expression for Walker-Warburg Syndrome

Search GEO for disease gene expression data for Walker-Warburg Syndrome.

Pathways for Walker-Warburg Syndrome

Pathways related to Walker-Warburg Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Mannose type O-glycan biosynthesis hsa00515

Pathways related to Walker-Warburg Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 B3GALNT2 B3GNT2 B4GAT1 FKRP FKTN GMPPB
2
Show member pathways
13.53 B3GALNT2 B3GNT2 B4GAT1 DAG1 GMPPB LARGE1
3
Show member pathways
12.53 COL4A1 DAG1 DMD LAMA2 LAMB2
4
Show member pathways
12.2 DAG1 DMD LAMA2 SGCA
5
Show member pathways
11.97 DAG1 DMD LAMA2 SGCA
6
Show member pathways
11.92 B3GALNT2 B3GNT2 B4GAT1 DAG1 LARGE1 POMGNT1
7
Show member pathways
11.88 COL4A1 DAG1 LAMB2
8
Show member pathways
11.88 COL4A1 DAG1 LAMA2 LAMB2
9 11.68 COL4A1 LAMA2 LAMB2
10 11.65 COL4A1 LAMA2 LAMB2
11 11.39 DAG1 LAMA2 LAMB2
12
Show member pathways
11.28 DAG1 DMD LAMA2 LAMB2
13 10.88 POMT1 POMT2
14 10.78 DAG1 DMD LAMA2
15 10.76 B3GALNT2 B4GAT1 FKRP FKTN ISPD LARGE1

GO Terms for Walker-Warburg Syndrome

Cellular components related to Walker-Warburg Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.91 B3GALNT2 B3GNT2 B4GAT1 DMD FKRP FKTN
2 extracellular matrix GO:0031012 9.81 COL4A1 DAG1 LAMA2 LAMB2
3 basement membrane GO:0005604 9.62 COL4A1 DAG1 LAMA2 LAMB2
4 Golgi membrane GO:0000139 9.56 B3GALNT2 B3GNT2 B4GAT1 FKRP FKTN LARGE1
5 sarcolemma GO:0042383 9.55 DAG1 DMD FKRP LAMA2 SGCA
6 costamere GO:0043034 9.48 DAG1 DMD
7 basal lamina GO:0005605 9.43 LAMA2 LAMB2
8 dystroglycan complex GO:0016011 9.37 DAG1 SGCA
9 dystrophin-associated glycoprotein complex GO:0016010 8.92 DAG1 DMD FKRP SGCA
10 membrane GO:0016020 10.37 B3GALNT2 B3GNT2 B4GAT1 DAG1 DMD FKRP
11 integral component of membrane GO:0016021 10.25 B3GALNT2 B3GNT2 B4GAT1 DAG1 FKRP FKTN
12 endoplasmic reticulum GO:0005783 10 B3GALNT2 FKRP FKTN POMGNT2 POMK POMT1

Biological processes related to Walker-Warburg Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.93 B3GALNT2 B3GNT2 B4GAT1 FKRP FKTN ISPD
2 extracellular matrix organization GO:0030198 9.8 COL4A1 DAG1 LAMA2 LAMB2 POMT1
3 axon guidance GO:0007411 9.77 B3GNT2 B4GAT1 ISPD LAMA2 LAMB2
4 muscle organ development GO:0007517 9.73 DMD FKTN LAMA2 SGCA
5 protein O-linked glycosylation GO:0006493 9.61 B3GALNT2 B4GAT1 DAG1 LARGE1 POMGNT1 POMGNT2
6 muscle cell cellular homeostasis GO:0046716 9.57 DMD LARGE1
7 mannosylation GO:0097502 9.56 POMT1 POMT2
8 skeletal muscle tissue regeneration GO:0043403 9.56 DAG1 DMD LARGE1 SGCA
9 ER-associated misfolded protein catabolic process GO:0071712 9.55 POMT1 POMT2
10 basement membrane organization GO:0071711 9.54 COL4A1 DAG1
11 glycoprotein biosynthetic process GO:0009101 9.52 FKRP LARGE1
12 Schwann cell development GO:0014044 9.51 DAG1 LAMB2
13 response to denervation involved in regulation of muscle adaptation GO:0014894 9.5 DAG1 DMD SGCA
14 Schwann cell differentiation GO:0014037 9.49 DAG1 LAMA2
15 poly-N-acetyllactosamine biosynthetic process GO:0030311 9.48 B3GNT2 B4GAT1
16 positive regulation of protein O-linked glycosylation GO:1904100 9.46 POMT1 POMT2
17 protein O-linked mannosylation GO:0035269 9.28 B4GAT1 FKRP FKTN ISPD LARGE1 POMGNT2

Molecular functions related to Walker-Warburg Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.56 B3GALNT2 B3GNT2 B4GAT1 LARGE1 POMGNT1 POMGNT2
2 transferase activity GO:0016740 9.47 B3GALNT2 B3GNT2 B4GAT1 FKRP FKTN GMPPB
3 acetylglucosaminyltransferase activity GO:0008375 9.46 B3GALNT2 LARGE1 POMGNT1 POMGNT2
4 galactosyltransferase activity GO:0008378 9.43 B3GALNT2 B3GNT2
5 vinculin binding GO:0017166 9.4 DAG1 DMD
6 dystroglycan binding GO:0002162 9.37 DAG1 DMD
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.32 POMT1 POMT2
8 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity GO:0008532 9.26 B3GNT2 B4GAT1

Sources for Walker-Warburg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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