MCID: WLK001
MIFTS: 59

Walker-Warburg Syndrome

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

Aliases & Classifications for Walker-Warburg Syndrome

MalaCards integrated aliases for Walker-Warburg Syndrome:

Name: Walker-Warburg Syndrome 12 53 25 59 55 6 15
Walker-Warburg Congenital Muscular Dystrophy 25 29 6 73
Hard Syndrome 12 53 25 59
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 12 25
Cod-Md Syndrome 53 25
Chemke Syndrome 53 25
Muscular Dystrophy-Dystroglycanopathy [with Brain and Eye Anomalies], Type a 25
Cerebroocular Dysplasia Muscular Dystrophy Syndrome 53
Muscular Dystrophy-Dystroglycanopathy , Type a 25
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome 59
Dystrophy, Muscular, Dystroglycanopathy, Type a 40
Hydrocephalus, Agyria, and Retinal Dysplasia 25
Muscular Dystrophy-Dystroglycanopathy Type a 37
Hydrocephalus, Agyria and Retinal Dysplasia 53
Cerebroocular Dysgenesis 53
Syndrome, Walker-Warburg 40
Hard +/- E Syndrome 53
Warburg Syndrome 53
Pagon Syndrome 53
Mddga 25
Wws 59

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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.

MalaCards based summary : Walker-Warburg Syndrome, also known as walker-warburg congenital muscular dystrophy, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and lissencephaly, and has symptoms including seizures 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 hydrocephalus and retinal detachment

Genetics Home Reference : 25 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.

Wikipedia : 76 Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome... more...

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 90)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 34.0 B4GAT1 FKRP FKTN LARGE1 POMT1 POMT2
2 lissencephaly 33.1 DAG1 FKRP FKTN RXYLT1
3 muscular dystrophy-dystroglycanopathy , type c, 1 32.9 GMPPB POMT1 POMT2
4 muscular dystrophy-dystroglycanopathy , type a, 4 32.1 DAG1 DMD FKRP FKTN LAMA2 LARGE1
5 muscular dystrophy, congenital, lmna-related 31.1 DAG1 FKRP FKTN LAMA2 POMGNT1 POMT1
6 autosomal recessive limb-girdle muscular dystrophy 30.7 DMD FKRP POMT1 SGCA
7 limb-girdle muscular dystrophy 30.4 DMD FKRP FKTN POMGNT1 POMT1 SGCA
8 myopathy 29.9 DAG1 DMD FKRP LAMA2 SGCA
9 muscle eye brain disease 28.7 B3GALNT2 DAG1 DMD FKRP FKTN GMPPB
10 muscular dystrophy 28.0 B3GALNT2 DAG1 DMD FKRP FKTN GMPPB
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 11.8
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 muscular dystrophy-dystroglycanopathy , type c, 4 10.9 FKRP FKTN POMT2
29 muscular dystrophy-dystroglycanopathy , type c, 9 10.8 DAG1 GMPPB
30 muscular dystrophy-dystroglycanopathy , type c, 2 10.8 GMPPB POMT1 POMT2
31 muscular dystrophy-dystroglycanopathy , type c, 14 10.8 GMPPB ISPD
32 muscular dystrophy-dystroglycanopathy , type c, 7 10.8 GMPPB ISPD
33 congenital nervous system abnormality 10.8 FKTN POMGNT1 POMT1
34 polyglucosan body myopathy 1 with or without immunodeficiency 10.7 DMD FKRP
35 congenital muscular dystrophy without intellectual disability 10.7 FKRP FKTN ISPD POMT1
36 muscular dystrophy, limb-girdle, type 2l 10.7 FKRP FKTN POMT1 POMT2
37 cardiomyopathy, dilated, 3b 10.7 DMD SGCA
38 muscular dystrophy-dystroglycanopathy , type c, 3 10.7 GMPPB POMGNT1
39 muscular dystrophy-dystroglycanopathy , type c, 5 10.7 FKRP LAMA2 POMGNT2
40 muscular dystrophy, limb-girdle, type 2d 10.7 FKRP SGCA
41 isolated hyperckemia 10.6 DMD FKRP LAMA2
42 muscular dystrophy, limb-girdle, type 2c 10.6 DAG1 DMD SGCA
43 muscular dystrophy, limb-girdle, type 2f 10.6 DMD FKRP SGCA
44 cardiomyopathy, dilated, 1d 10.6 DAG1 DMD LAMA2
45 muscular dystrophy, limb-girdle, type 2b 10.6 DMD FKRP SGCA
46 ablepharon-macrostomia syndrome 10.6 FKRP FKTN LARGE1 POMGNT1 POMT1
47 cardiomyopathy, dilated, 1a 10.6 DAG1 DMD LAMA2
48 congenital muscular dystrophy with intellectual disability 10.5 FKRP GMPPB LARGE1 POMT1 POMT2
49 creatine phosphokinase, elevated serum 10.5 DMD LAMA2
50 cardiomyopathy, dilated, 1b 10.5 DAG1 DMD FKTN LAMA2

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:

59 32 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
2 retinal detachment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000541
3 retinal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000556
4 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 hyporeflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001265
9 areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001284
10 pachygyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001302
11 cerebellar hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001321
12 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
13 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
14 aplasia/hypoplasia involving the skeletal musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0001460
15 polymicrogyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002126
16 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
17 muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003560
18 macrogyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0007227
19 chorioretinal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007731
20 retinal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007973
21 metatarsus valgus 59 32 hallmark (90%) Very frequent (99-80%) HP:0010508
22 abnormal aldolase level 59 32 hallmark (90%) Very frequent (99-80%) HP:0012400
23 abnormal levels of creatine kinase in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0040081
24 abnormal lactate dehydrogenase activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0045040
25 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
26 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
27 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
28 anophthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000528
29 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
30 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
31 dandy-walker malformation 59 32 frequent (33%) Frequent (79-30%) HP:0001305
32 absent septum pellucidum 59 32 frequent (33%) Frequent (79-30%) HP:0001331
33 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
34 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
35 submucous cleft hard palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000176
36 bifid uvula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000193
37 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
38 posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000358
39 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
40 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
41 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
42 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
43 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
44 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
45 abnormality of the optic nerve 59 Very frequent (99-80%)
46 lissencephaly 59 Very frequent (99-80%)
47 ventriculomegaly 59 Very frequent (99-80%)
48 abnormality of neuronal migration 59 Very frequent (99-80%)
49 abnormality of the cerebellar vermis 59 Very frequent (99-80%)
50 abnormal cortical gyration 59 Very frequent (99-80%)

UMLS symptoms related to Walker-Warburg Syndrome:


seizures

MGI Mouse Phenotypes related to Walker-Warburg Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.3 B3GNT2 B4GAT1 COL4A1 DAG1 DMD FKRP
2 behavior/neurological MP:0005386 10.26 B3GNT2 B4GAT1 COL4A1 DAG1 DMD FKRP
3 growth/size/body region MP:0005378 10.22 B3GNT2 COL4A1 POMGNT2 POMK POMT2 DAG1
4 homeostasis/metabolism MP:0005376 10.15 DAG1 DMD FKRP FKTN LAMA2 LAMB2
5 mortality/aging MP:0010768 10.1 DMD FKRP FKTN ISPD LAMA2 LAMB2
6 immune system MP:0005387 10.06 B3GNT2 B4GAT1 COL4A1 DMD FKRP FKTN
7 craniofacial MP:0005382 9.91 B3GNT2 FKRP LAMA2 LARGE1 POMGNT1 POMK
8 muscle MP:0005369 9.9 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
9 nervous system MP:0003631 9.83 B3GNT2 B4GAT1 COL4A1 DAG1 DMD FKRP
10 vision/eye MP:0005391 9.17 COL4A1 DAG1 DMD FKRP LAMB2 LARGE1

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 29

Anatomical Context for Walker-Warburg Syndrome

MalaCards organs/tissues related to Walker-Warburg Syndrome:

41
Brain, Eye, Skeletal Muscle, Testis, Kidney

Publications for Walker-Warburg Syndrome

Articles related to Walker-Warburg Syndrome:

(show top 50) (show all 129)
# Title Authors Year
1
Bilateral total retinal detachment at birth: a case report of Walker-Warburg syndrome. ( 29386918 )
2018
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. ( 29791932 )
2018
3
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. ( 28980384 )
2017
4
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. ( 29337005 )
2017
5
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. ( 28815891 )
2017
6
Walker-Warburg syndrome with gonadal dysgenesis: A rare association. ( 28488658 )
2017
7
Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome. ( 29187032 )
2017
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
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome. ( 28116189 )
2016
10
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. ( 26495167 )
2015
11
Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome. ( 26265907 )
2015
12
Cochlear malformation and sensorineural hearing loss in the Walker-Warburg Syndrome. ( 25592765 )
2015
13
Prenatal imaging diagnosis of cobblestone lissencephaly associated with Walker Warburg syndrome based on a specific sonographic pattern. ( 26315758 )
2015
14
ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome. ( 26087224 )
2015
15
Absence of I+- and I^-dystroglycan is associated with Walker-Warburg syndrome. ( 25934851 )
2015
16
Perioperative considerations in Walker-Warburg syndrome. ( 26401279 )
2015
17
Anesthesia for a child with Walker-Warburg syndrome. ( 24794457 )
2014
18
Walker-Warburg syndrome: rare congenital muscular dystrophy associated with brain and eye abnormalities. ( 25488038 )
2014
19
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. ( 24120487 )
2013
20
Missense mutations in I^-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. ( 23359570 )
2013
21
Walker Warburg syndrome associated with microphthalmos and megalophthalmos: A rare combination. ( 24082679 )
2013
22
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. ( 23877401 )
2013
23
Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. ( 22790300 )
2012
24
Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. ( 22002842 )
2012
25
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. ( 22522421 )
2012
26
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. ( 22522420 )
2012
27
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. ( 22958903 )
2012
28
Walker-Warburg syndrome. ( 22691590 )
2011
29
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. ( 21625620 )
2011
30
A case study on Walker-Warburg syndrome. ( 20150777 )
2010
31
Increased apoptosis of myoblasts in Drosophila model for the Walker-Warburg syndrome. ( 20644630 )
2010
32
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. ( 20236121 )
2010
33
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. ( 20069672 )
2010
34
Two cases of Walker-Warburg syndrome complicated by hydrocephalus. ( 20516736 )
2010
35
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. ( 19519795 )
2009
36
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. ( 19266496 )
2009
37
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome. ( 19222032 )
2009
38
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. ( 19639522 )
2009
39
Walker-Warburg Syndrome Manifesting as Leopard Spot Retinopathy, Retinal Detachment, and Microphthalmia. ( 19791710 )
2009
40
Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. ( 18069971 )
2008
41
Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. ( 18923033 )
2008
42
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. ( 18640039 )
2008
43
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. ( 18177472 )
2008
44
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. ( 18752264 )
2008
45
POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo. ( 18490429 )
2008
46
A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. ( 17161965 )
2007
47
The Walker-Warburg syndrome with cleft lip and palate. ( 17304384 )
2007
48
Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families. ( 17079174 )
2007
49
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. ( 17436019 )
2007
50
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

Variations for Walker-Warburg Syndrome

ClinVar genetic disease variations for Walker-Warburg Syndrome:

6
(show top 50) (show all 512)
# Gene Variation Type Significance SNP ID Assembly Location
1 FKTN NM_001079802.1(FKTN): c.1167dupA (p.Phe390Ilefs) duplication Pathogenic rs398123555 GRCh38 Chromosome 9, 105620056: 105620056
2 FKTN NM_001079802.1(FKTN): c.1167dupA (p.Phe390Ilefs) duplication Pathogenic rs398123555 GRCh37 Chromosome 9, 108382337: 108382337
3 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh37 Chromosome 9, 134398416: 134398416
4 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh38 Chromosome 9, 131523029: 131523029
5 FKRP NM_024301.4(FKRP): c.1154C> A (p.Ser385Ter) single nucleotide variant Pathogenic rs104894680 GRCh37 Chromosome 19, 47259861: 47259861
6 FKRP NM_024301.4(FKRP): c.1154C> A (p.Ser385Ter) single nucleotide variant Pathogenic rs104894680 GRCh38 Chromosome 19, 46756604: 46756604
7 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
8 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh37 Chromosome 19, 47260071: 47260071
9 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh38 Chromosome 19, 46756814: 46756814
10 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
11 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh37 Chromosome 19, 47260193: 47260193
12 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh38 Chromosome 19, 46756936: 46756936
13 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
14 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh38 Chromosome 19, 46756837: 46756837
15 RXYLT1 NM_014254.2(RXYLT1): c.1016A> G (p.Tyr339Cys) single nucleotide variant Likely pathogenic rs150736997 GRCh37 Chromosome 12, 64202556: 64202556
16 RXYLT1 NM_014254.2(RXYLT1): c.1016A> G (p.Tyr339Cys) single nucleotide variant Likely pathogenic rs150736997 GRCh38 Chromosome 12, 63808776: 63808776
17 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh37 Chromosome 9, 108366768: 108366768
18 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh38 Chromosome 9, 105604487: 105604487
19 LARGE1 NM_004737.4(LARGE1): c.1008T> C (p.Asp336=) single nucleotide variant Benign/Likely benign rs115076367 GRCh37 Chromosome 22, 33778028: 33778028
20 LARGE1 NM_004737.4(LARGE1): c.1008T> C (p.Asp336=) single nucleotide variant Benign/Likely benign rs115076367 GRCh38 Chromosome 22, 33382042: 33382042
21 LARGE1 NM_004737.4(LARGE1): c.552G> A (p.Thr184=) single nucleotide variant Conflicting interpretations of pathogenicity rs8142483 GRCh37 Chromosome 22, 34000484: 34000484
22 LARGE1 NM_004737.4(LARGE1): c.552G> A (p.Thr184=) single nucleotide variant Conflicting interpretations of pathogenicity rs8142483 GRCh38 Chromosome 22, 33604498: 33604498
23 LARGE1 NM_004737.4(LARGE1): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs116164106 GRCh37 Chromosome 22, 34046550: 34046550
24 LARGE1 NM_004737.4(LARGE1): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs116164106 GRCh38 Chromosome 22, 33650564: 33650564
25 LARGE1 NM_004737.4(LARGE1): c.165G> C (p.Thr55=) single nucleotide variant Benign/Likely benign rs63446460 GRCh37 Chromosome 22, 34046596: 34046596
26 LARGE1 NM_004737.4(LARGE1): c.165G> C (p.Thr55=) single nucleotide variant Benign/Likely benign rs63446460 GRCh38 Chromosome 22, 33650610: 33650610
27 FKTN NM_001079802.1(FKTN): c.668C> T (p.Thr223Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs116105846 GRCh38 Chromosome 9, 105607839: 105607839
28 FKTN NM_001079802.1(FKTN): c.668C> T (p.Thr223Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs116105846 GRCh37 Chromosome 9, 108370120: 108370120
29 POMT1 NM_007171.3(POMT1): c.1611C> G (p.Ser537Arg) single nucleotide variant Benign/Likely benign rs150367385 GRCh38 Chromosome 9, 131519447: 131519447
30 POMT1 NM_007171.3(POMT1): c.1611C> G (p.Ser537Arg) single nucleotide variant Benign/Likely benign rs150367385 GRCh37 Chromosome 9, 134394834: 134394834
31 FKRP NM_024301.4(FKRP): c.1073C> T (p.Pro358Leu) single nucleotide variant Uncertain significance rs143031195 GRCh37 Chromosome 19, 47259780: 47259780
32 FKRP NM_024301.4(FKRP): c.1073C> T (p.Pro358Leu) single nucleotide variant Uncertain significance rs143031195 GRCh38 Chromosome 19, 46756523: 46756523
33 FKRP NM_024301.4(FKRP): c.740C> A (p.Pro247Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs528000488 GRCh37 Chromosome 19, 47259447: 47259447
34 FKRP NM_024301.4(FKRP): c.740C> A (p.Pro247Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs528000488 GRCh38 Chromosome 19, 46756190: 46756190
35 POMT1 NM_007171.3(POMT1): c.1764C> T (p.Ser588=) single nucleotide variant Conflicting interpretations of pathogenicity rs150814269 GRCh37 Chromosome 9, 134395580: 134395580
36 POMT1 NM_007171.3(POMT1): c.1764C> T (p.Ser588=) single nucleotide variant Conflicting interpretations of pathogenicity rs150814269 GRCh38 Chromosome 9, 131520193: 131520193
37 FKTN NM_001079802.1(FKTN): c.1159G> A (p.Gly387Arg) single nucleotide variant Uncertain significance rs148975262 GRCh37 Chromosome 9, 108382329: 108382329
38 FKTN NM_001079802.1(FKTN): c.1159G> A (p.Gly387Arg) single nucleotide variant Uncertain significance rs148975262 GRCh38 Chromosome 9, 105620048: 105620048
39 LARGE1 NM_004737.4(LARGE1): c.1788G> A (p.Ala596=) single nucleotide variant Conflicting interpretations of pathogenicity rs74550830 GRCh37 Chromosome 22, 33679277: 33679277
40 LARGE1 NM_004737.4(LARGE1): c.1788G> A (p.Ala596=) single nucleotide variant Conflicting interpretations of pathogenicity rs74550830 GRCh38 Chromosome 22, 33283291: 33283291
41 LARGE1 NM_004737.4(LARGE1): c.1962G> A (p.Glu654=) single nucleotide variant Conflicting interpretations of pathogenicity rs141089495 GRCh37 Chromosome 22, 33673157: 33673157
42 LARGE1 NM_004737.4(LARGE1): c.1962G> A (p.Glu654=) single nucleotide variant Conflicting interpretations of pathogenicity rs141089495 GRCh38 Chromosome 22, 33277171: 33277171
43 POMT1 NM_007171.3(POMT1): c.1958C> T (p.Pro653Leu) single nucleotide variant Pathogenic/Likely pathogenic rs149682171 GRCh37 Chromosome 9, 134397500: 134397500
44 POMT1 NM_007171.3(POMT1): c.1958C> T (p.Pro653Leu) single nucleotide variant Pathogenic/Likely pathogenic rs149682171 GRCh38 Chromosome 9, 131522113: 131522113
45 POMT1 NM_007171.3(POMT1): c.42C> T (p.Asp14=) single nucleotide variant Conflicting interpretations of pathogenicity rs150937126 GRCh37 Chromosome 9, 134379647: 134379647
46 POMT1 NM_007171.3(POMT1): c.42C> T (p.Asp14=) single nucleotide variant Conflicting interpretations of pathogenicity rs150937126 GRCh38 Chromosome 9, 131504260: 131504260
47 POMT1 NM_007171.3(POMT1): c.2163C> A (p.Tyr721Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs138902646 GRCh37 Chromosome 9, 134398412: 134398412
48 POMT1 NM_007171.3(POMT1): c.2163C> A (p.Tyr721Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs138902646 GRCh38 Chromosome 9, 131523025: 131523025
49 FKRP NM_024301.4(FKRP): c.636G> A (p.Ala212=) single nucleotide variant Benign/Likely benign rs370099812 GRCh37 Chromosome 19, 47259343: 47259343
50 FKRP NM_024301.4(FKRP): c.636G> A (p.Ala212=) single nucleotide variant Benign/Likely benign rs370099812 GRCh38 Chromosome 19, 46756086: 46756086

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:

37
# 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 9.76 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 9.51 DAG1 DMD
7 basal lamina GO:0005605 9.48 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 10.28 B3GALNT2 B3GNT2 B4GAT1 DAG1 FKRP FKTN
12 endoplasmic reticulum GO:0005783 10.01 B3GALNT2 B3GNT2 FKRP FKTN POMGNT2 POMK

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 9.65 B3GALNT2 B3GNT2 B4GAT1 DAG1 LARGE1 POMGNT1
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 poly-N-acetyllactosamine biosynthetic process GO:0030311 9.54 B3GNT2 B4GAT1
11 basement membrane organization GO:0071711 9.52 COL4A1 DAG1
12 glycoprotein biosynthetic process GO:0009101 9.51 FKRP LARGE1
13 response to denervation involved in regulation of muscle adaptation GO:0014894 9.5 DAG1 DMD SGCA
14 Schwann cell development GO:0014044 9.49 DAG1 LAMB2
15 Schwann cell differentiation GO:0014037 9.48 DAG1 LAMA2
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 acetylglucosaminyltransferase activity GO:0008375 9.55 B3GALNT2 B3GNT2 LARGE1 POMGNT1 POMGNT2
3 acetylgalactosaminyltransferase activity GO:0008376 9.48 B3GALNT2 B3GNT2
4 transferase activity GO:0016740 9.47 B3GALNT2 B3GNT2 B4GAT1 FKRP FKTN GMPPB
5 galactosyltransferase activity GO:0008378 9.46 B3GALNT2 B3GNT2
6 mannosyltransferase activity GO:0000030 9.43 POMT1 POMT2
7 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity GO:0008532 9.4 B3GNT2 B4GAT1
8 vinculin binding GO:0017166 9.37 DAG1 DMD
9 dystroglycan binding GO:0002162 9.32 DAG1 DMD
10 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.26 POMT1 POMT2

Sources for Walker-Warburg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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