WWS
MCID: WLK001
MIFTS: 60

Walker-Warburg Syndrome (WWS)

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

Aliases & Classifications for Walker-Warburg Syndrome

MalaCards integrated aliases for Walker-Warburg Syndrome:

Name: Walker-Warburg Syndrome 12 53 25 59 55 6 44 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 muscular dystrophy-dystroglycanopathy , type a, 4, 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 eye, brain and skeletal muscle, and related phenotypes are macrocephaly and low-set ears

Disease Ontology : 12 A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has material basis in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.

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.

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 118)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 32.9 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
2 muscular dystrophy-dystroglycanopathy , type a, 4 32.9 DAG1 DMD FKRP FKTN LAMA2 LARGE1
3 lissencephaly 32.7 DAG1 FKRP FKTN ISPD RXYLT1
4 muscular dystrophy-dystroglycanopathy , type c, 1 32.4 POMT1 POMT2
5 muscular dystrophy, congenital, lmna-related 30.6 B3GALNT2 DAG1 DMD FKRP FKTN LAMA2
6 autosomal recessive limb-girdle muscular dystrophy 30.4 DMD FKRP POMT1 SGCA
7 limb-girdle muscular dystrophy 30.4 DMD FKRP FKTN LAMA2 POMGNT1 POMT1
8 muscular dystrophy 30.1 B3GALNT2 B4GAT1 DAG1 DMD FKRP FKTN
9 muscular dystrophy-dystroglycanopathy 30.0 B3GALNT2 DAG1 FKRP GMPPB ISPD POMGNT1
10 muscle eye brain disease 29.9 B3GALNT2 B4GAT1 DAG1 FKRP FKTN GMPPB
11 palmer pagon syndrome 12.2
12 muscular dystrophy-dystroglycanopathy , type a, 3 12.1
13 muscular dystrophy-dystroglycanopathy , type a, 2 12.1
14 muscular dystrophy-dystroglycanopathy , type a, 5 12.1
15 muscular dystrophy-dystroglycanopathy , type a, 6 12.1
16 muscular dystrophy-dystroglycanopathy , type a, 7 12.1
17 muscular dystrophy-dystroglycanopathy , type a, 8 12.1
18 muscular dystrophy-dystroglycanopathy , type a, 10 12.1
19 muscular dystrophy-dystroglycanopathy , type a, 11 12.1
20 muscular dystrophy-dystroglycanopathy , type a, 12 12.1
21 muscular dystrophy-dystroglycanopathy , type a, 13 12.1
22 muscular dystrophy-dystroglycanopathy , type a, 9 12.1
23 muscular dystrophy-dystroglycanopathy , type a, 14 12.0
24 cerebellar hypoplasia 11.3
25 muscular dystrophy, congenital, merosin-positive 11.3
26 muscular dystrophy-dystroglycanopathy , type b, 1 11.3
27 norrie disease 11.3
28 apocrine gland secretion, variation in 11.2
29 congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 11.1
30 intellectual disability-developmental delay-contractures syndrome 11.1
31 hydrocephalus 10.5
32 fukuyama type muscular dystrophy 10.5
33 cleft palate, isolated 10.4
34 retinal detachment 10.4
35 cleft lip 10.4
36 congenital hydrocephalus 10.4
37 autosomal recessive limb-girdle muscular dystrophy type 2w 10.3 GMPPB ISPD
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
39 sensorineural hearing loss 10.3
40 myopathy 10.3
41 muscular dystrophy-dystroglycanopathy , type c, 2 10.3 POMT1 POMT2
42 muscular dystrophy-dystroglycanopathy , type c, 14 10.3 GMPPB ISPD
43 muscular dystrophy-dystroglycanopathy , type c, 9 10.3 DAG1 GMPPB
44 polyglucosan body myopathy 1 with or without immunodeficiency 10.3 DMD FKRP
45 autosomal recessive limb-girdle muscular dystrophy type 2d 10.3 FKRP SGCA
46 muscular dystrophy-dystroglycanopathy , type c, 7 10.3 GMPPB ISPD
47 congenital nervous system abnormality 10.3 FKTN POMGNT1 POMT1
48 congenital muscular dystrophy without intellectual disability 10.2 FKRP FKTN ISPD POMT1
49 autosomal recessive limb-girdle muscular dystrophy type 2l 10.2 FKRP FKTN POMT1 POMT2
50 muscular dystrophy-dystroglycanopathy , type c, 4 10.2 FKRP FKTN POMT1 POMT2

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 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
3 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
4 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
8 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
9 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
12 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
13 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
14 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
15 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
16 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
17 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
18 cerebellar hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001321
19 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
20 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
21 retinal detachment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000541
22 retinal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007973
23 areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001284
24 chorioretinal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007731
25 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
26 hyporeflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001265
27 absent septum pellucidum 59 32 frequent (33%) Frequent (79-30%) HP:0001331
28 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
29 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
30 metatarsus valgus 59 32 hallmark (90%) Very frequent (99-80%) HP:0010508
31 pachygyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001302
32 polymicrogyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002126
33 anophthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000528
34 dandy-walker malformation 59 32 frequent (33%) Frequent (79-30%) HP:0001305
35 muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003560
36 bifid uvula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000193
37 submucous cleft hard palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000176
38 retinal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000556
39 posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000358
40 abnormal levels of creatine kinase in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0040081
41 abnormal lactate dehydrogenase activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0045040
42 aplasia/hypoplasia involving the skeletal musculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0001460
43 abnormal aldolase level 59 32 hallmark (90%) Very frequent (99-80%) HP:0012400
44 macrogyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0007227
45 cleft palate 59 Occasional (29-5%)
46 ventriculomegaly 59 Very frequent (99-80%)
47 abnormality of neuronal migration 59 Very frequent (99-80%)
48 lissencephaly 59 Very frequent (99-80%)
49 abnormality of the optic nerve 59 Very frequent (99-80%)
50 abnormality of the cerebellar vermis 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 10.25 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
2 behavior/neurological MP:0005386 10.23 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
3 growth/size/body region MP:0005378 10.18 COL4A1 DAG1 DMD FKRP FKTN LAMA2
4 homeostasis/metabolism MP:0005376 10.15 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
5 mortality/aging MP:0010768 10.1 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
6 immune system MP:0005387 10.02 B4GAT1 COL4A1 DMD FKRP FKTN LAMA2
7 muscle MP:0005369 9.9 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
8 nervous system MP:0003631 9.83 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
9 vision/eye MP:0005391 9.23 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

Cochrane evidence based reviews: 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
Eye, Brain, Skeletal Muscle, Kidney, Lung, Thyroid, T Cells

Publications for Walker-Warburg Syndrome

Articles related to Walker-Warburg Syndrome:

(show top 50) (show all 131)
# 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
Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome. ( 29187032 )
2018
4
Walker-Warburg syndrome. ( 30504606 )
2018
5
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. ( 28980384 )
2017
6
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. ( 29337005 )
2017
7
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. ( 28815891 )
2017
8
Walker-Warburg syndrome with gonadal dysgenesis: A rare association. ( 28488658 )
2017
9
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
10
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome. ( 28116189 )
2016
11
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. ( 26495167 )
2015
12
Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome. ( 26265907 )
2015
13
Cochlear malformation and sensorineural hearing loss in the Walker-Warburg Syndrome. ( 25592765 )
2015
14
Prenatal imaging diagnosis of cobblestone lissencephaly associated with Walker Warburg syndrome based on a specific sonographic pattern. ( 26315758 )
2015
15
ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome. ( 26087224 )
2015
16
Absence of I+- and I^-dystroglycan is associated with Walker-Warburg syndrome. ( 25934851 )
2015
17
Perioperative considerations in Walker-Warburg syndrome. ( 26401279 )
2015
18
Anesthesia for a child with Walker-Warburg syndrome. ( 24794457 )
2014
19
Walker-Warburg syndrome: rare congenital muscular dystrophy associated with brain and eye abnormalities. ( 25488038 )
2014
20
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. ( 24120487 )
2013
21
Missense mutations in I^-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. ( 23359570 )
2013
22
Walker Warburg syndrome associated with microphthalmos and megalophthalmos: A rare combination. ( 24082679 )
2013
23
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. ( 23877401 )
2013
24
Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. ( 22790300 )
2012
25
Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. ( 22002842 )
2012
26
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. ( 22522421 )
2012
27
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. ( 22522420 )
2012
28
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. ( 22958903 )
2012
29
Walker-Warburg syndrome. ( 22691590 )
2011
30
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. ( 21625620 )
2011
31
Walker-Warburg Syndrome: A Case with multiple uncommon features. ( 27493321 )
2011
32
A case study on Walker-Warburg syndrome. ( 20150777 )
2010
33
Increased apoptosis of myoblasts in Drosophila model for the Walker-Warburg syndrome. ( 20644630 )
2010
34
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. ( 20236121 )
2010
35
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. ( 20069672 )
2010
36
Two cases of Walker-Warburg syndrome complicated by hydrocephalus. ( 20516736 )
2010
37
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. ( 19519795 )
2009
38
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. ( 19266496 )
2009
39
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome. ( 19222032 )
2009
40
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. ( 19639522 )
2009
41
Walker-Warburg Syndrome Manifesting as Leopard Spot Retinopathy, Retinal Detachment, and Microphthalmia. ( 19791710 )
2009
42
Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. ( 18069971 )
2008
43
Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. ( 18923033 )
2008
44
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. ( 18640039 )
2008
45
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. ( 18177472 )
2008
46
POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo. ( 18490429 )
2008
47
A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. ( 17161965 )
2007
48
The Walker-Warburg syndrome with cleft lip and palate. ( 17304384 )
2007
49
Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families. ( 17079174 )
2007
50
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. ( 17436019 )
2007

Variations for Walker-Warburg Syndrome

ClinVar genetic disease variations for Walker-Warburg Syndrome:

6 (show top 50) (show all 714)
# 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 FKTN NM_001079802.1(FKTN): c.373G> A (p.Gly125Ser) single nucleotide variant Benign rs34006675 GRCh37 Chromosome 9, 108366499: 108366499
4 FKTN NM_001079802.1(FKTN): c.373G> A (p.Gly125Ser) single nucleotide variant Benign rs34006675 GRCh38 Chromosome 9, 105604218: 105604218
5 FKTN NM_001079802.1(FKTN): c.1112A> G (p.Tyr371Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs119464998 GRCh37 Chromosome 9, 108382282: 108382282
6 FKTN NM_001079802.1(FKTN): c.1112A> G (p.Tyr371Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs119464998 GRCh38 Chromosome 9, 105620001: 105620001
7 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic/Likely pathogenic rs119462987 GRCh37 Chromosome 9, 134397547: 134397547
8 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic/Likely pathogenic rs119462987 GRCh38 Chromosome 9, 131522160: 131522160
9 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh37 Chromosome 9, 134398416: 134398416
10 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh38 Chromosome 9, 131523029: 131523029
11 FKRP NM_024301.4(FKRP): c.1154C> A (p.Ser385Ter) single nucleotide variant Pathogenic rs104894680 GRCh37 Chromosome 19, 47259861: 47259861
12 FKRP NM_024301.4(FKRP): c.1154C> A (p.Ser385Ter) single nucleotide variant Pathogenic rs104894680 GRCh38 Chromosome 19, 46756604: 46756604
13 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh37 Chromosome 19, 47260193: 47260193
14 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh38 Chromosome 19, 46756936: 46756936
15 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
16 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
17 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh37 Chromosome 19, 47260071: 47260071
18 FKRP NM_024301.4(FKRP): c.1364C> A (p.Ala455Asp) single nucleotide variant Pathogenic rs28937903 GRCh38 Chromosome 19, 46756814: 46756814
19 FKRP NM_024301.4(FKRP): c.235G> A (p.Val79Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894683 GRCh37 Chromosome 19, 47258942: 47258942
20 FKRP NM_024301.4(FKRP): c.235G> A (p.Val79Met) single nucleotide variant Conflicting interpretations of pathogenicity rs104894683 GRCh38 Chromosome 19, 46755685: 46755685
21 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh37 Chromosome 19, 47260094: 47260094
22 FKRP NM_024301.4(FKRP): c.1387A> G (p.Asn463Asp) single nucleotide variant Pathogenic rs121908110 GRCh38 Chromosome 19, 46756837: 46756837
23 FKTN NM_006731.2(FKTN): c.1023G> A (p.Pro341=) single nucleotide variant Benign/Likely benign rs146967918 GRCh37 Chromosome 9, 108380352: 108380352
24 FKTN NM_006731.2(FKTN): c.1023G> A (p.Pro341=) single nucleotide variant Benign/Likely benign rs146967918 GRCh38 Chromosome 9, 105618071: 105618071
25 FKTN NM_006731.2(FKTN): c.1297A> G (p.Thr433Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs141918432 GRCh37 Chromosome 9, 108397456: 108397456
26 FKTN NM_006731.2(FKTN): c.1297A> G (p.Thr433Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs141918432 GRCh38 Chromosome 9, 105635175: 105635175
27 FKTN NM_001079802.1(FKTN): c.1336A> G (p.Asn446Asp) single nucleotide variant Benign/Likely benign rs41313301 GRCh37 Chromosome 9, 108397495: 108397495
28 FKTN NM_001079802.1(FKTN): c.1336A> G (p.Asn446Asp) single nucleotide variant Benign/Likely benign rs41313301 GRCh38 Chromosome 9, 105635214: 105635214
29 FKTN NM_006731.2(FKTN): c.166-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs193922689 GRCh37 Chromosome 9, 108363422: 108363422
30 FKTN NM_006731.2(FKTN): c.166-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs193922689 GRCh38 Chromosome 9, 105601141: 105601141
31 FKTN NM_001079802.1(FKTN): c.166-6A> G single nucleotide variant Benign/Likely benign rs41277795 GRCh37 Chromosome 9, 108363420: 108363420
32 FKTN NM_001079802.1(FKTN): c.166-6A> G single nucleotide variant Benign/Likely benign rs41277795 GRCh38 Chromosome 9, 105601139: 105601139
33 RXYLT1 NM_014254.2(RXYLT1): c.1016A> G (p.Tyr339Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150736997 GRCh37 Chromosome 12, 64202556: 64202556
34 RXYLT1 NM_014254.2(RXYLT1): c.1016A> G (p.Tyr339Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150736997 GRCh38 Chromosome 12, 63808776: 63808776
35 FKTN NM_001079802.1(FKTN): c.106-10G> A single nucleotide variant Benign rs148384394 GRCh37 Chromosome 9, 108358869: 108358869
36 FKTN NM_001079802.1(FKTN): c.106-10G> A single nucleotide variant Benign rs148384394 GRCh38 Chromosome 9, 105596588: 105596588
37 FKTN NM_001079802.1(FKTN): c.166C> T (p.Arg56Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs41277797 GRCh37 Chromosome 9, 108363426: 108363426
38 FKTN NM_001079802.1(FKTN): c.166C> T (p.Arg56Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs41277797 GRCh38 Chromosome 9, 105601145: 105601145
39 FKTN NM_001079802.1(FKTN): c.167G> A (p.Arg56His) single nucleotide variant Conflicting interpretations of pathogenicity rs146951171 GRCh37 Chromosome 9, 108363427: 108363427
40 FKTN NM_001079802.1(FKTN): c.167G> A (p.Arg56His) single nucleotide variant Conflicting interpretations of pathogenicity rs146951171 GRCh38 Chromosome 9, 105601146: 105601146
41 FKTN NM_001079802.1(FKTN): c.41C> T (p.Thr14Met) single nucleotide variant Uncertain significance rs149033995 GRCh37 Chromosome 9, 108337354: 108337354
42 FKTN NM_001079802.1(FKTN): c.41C> T (p.Thr14Met) single nucleotide variant Uncertain significance rs149033995 GRCh38 Chromosome 9, 105575073: 105575073
43 FKTN NM_001079802.1(FKTN): c.42G> A (p.Thr14=) single nucleotide variant Benign rs78794935 GRCh37 Chromosome 9, 108337355: 108337355
44 FKTN NM_001079802.1(FKTN): c.42G> A (p.Thr14=) single nucleotide variant Benign rs78794935 GRCh38 Chromosome 9, 105575074: 105575074
45 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh37 Chromosome 9, 108366768: 108366768
46 FKTN NM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs) duplication Pathogenic/Likely pathogenic rs398123557 GRCh38 Chromosome 9, 105604487: 105604487
47 LARGE1 NM_004737.5(LARGE1): c.-31G> A single nucleotide variant Benign/Likely benign rs117199378 GRCh37 Chromosome 22, 34157494: 34157494
48 LARGE1 NM_004737.5(LARGE1): c.-31G> A single nucleotide variant Benign/Likely benign rs117199378 GRCh38 Chromosome 22, 33761507: 33761507
49 LARGE1 NM_004737.4(LARGE1): c.1548C> T (p.Tyr516=) single nucleotide variant Benign/Likely benign rs34292743 GRCh37 Chromosome 22, 33700397: 33700397
50 LARGE1 NM_004737.4(LARGE1): c.1548C> T (p.Tyr516=) single nucleotide variant Benign/Likely benign rs34292743 GRCh38 Chromosome 22, 33304411: 33304411

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
13.77 B3GALNT2 B4GAT1 FKRP FKTN GMPPB ISPD
2
Show member pathways
13.56 B3GALNT2 B4GAT1 DAG1 GMPPB LARGE1 POMGNT1
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
11.94 DAG1 DMD LAMA2 SGCA
6
Show member pathways
11.88 COL4A1 DAG1 LAMB2
7
Show member pathways
11.87 B3GALNT2 B4GAT1 DAG1 LARGE1 POMGNT1 POMGNT2
8
Show member pathways
11.85 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 10.76 B3GALNT2 B4GAT1 FKRP FKTN ISPD LARGE1
15 10.71 DAG1 DMD LAMA2

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 9.92 B3GALNT2 B4GAT1 DMD FKRP FKTN LARGE1
2 Golgi membrane GO:0000139 9.85 B3GALNT2 B4GAT1 FKRP LARGE1 POMGNT1 RXYLT1
3 collagen-containing extracellular matrix GO:0062023 9.78 COL4A1 DAG1 LAMA2 LAMB2
4 basement membrane GO:0005604 9.56 COL4A1 DAG1 LAMA2 LAMB2
5 costamere GO:0043034 9.51 DAG1 DMD
6 synaptic cleft GO:0043083 9.46 LAMA2 LAMB2
7 integral component of Golgi membrane GO:0030173 9.46 B4GAT1 FKTN LARGE1 POMGNT1
8 dystroglycan complex GO:0016011 9.4 DAG1 SGCA
9 sarcolemma GO:0042383 9.35 DAG1 DMD FKRP LAMA2 SGCA
10 dystrophin-associated glycoprotein complex GO:0016010 8.92 DAG1 DMD FKRP SGCA
11 integral component of membrane GO:0016021 10.25 B3GALNT2 B4GAT1 DAG1 FKRP FKTN LARGE1
12 endoplasmic reticulum GO:0005783 10.04 B3GALNT2 FKRP FKTN POMGNT2 POMK POMT1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.9 B3GALNT2 B4GAT1 FKRP FKTN ISPD LARGE1
2 extracellular matrix organization GO:0030198 9.77 COL4A1 DAG1 LAMA2 LAMB2 POMT1
3 axon guidance GO:0007411 9.76 B4GAT1 ISPD LAMA2 LAMB2
4 muscle organ development GO:0007517 9.71 DMD FKTN LAMA2 SGCA
5 protein O-linked glycosylation GO:0006493 9.61 B3GALNT2 B4GAT1 FKTN LARGE1 POMGNT1 POMGNT2
6 skeletal muscle tissue regeneration GO:0043403 9.56 DAG1 DMD LARGE1 SGCA
7 muscle cell cellular homeostasis GO:0046716 9.55 DMD LARGE1
8 mannosylation GO:0097502 9.54 POMT1 POMT2
9 basement membrane organization GO:0071711 9.52 COL4A1 DAG1
10 glycoprotein biosynthetic process GO:0009101 9.51 FKRP LARGE1
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.5 DAG1 DMD SGCA
12 Schwann cell development GO:0014044 9.49 DAG1 LAMB2
13 Schwann cell differentiation GO:0014037 9.48 DAG1 LAMA2
14 positive regulation of protein O-linked glycosylation GO:1904100 9.43 POMT1 POMT2
15 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 extracellular matrix structural constituent GO:0005201 9.58 COL4A1 LAMA2 LAMB2
2 transferase activity, transferring glycosyl groups GO:0016757 9.5 B3GALNT2 B4GAT1 LARGE1 POMGNT1 POMGNT2 POMT1
3 acetylglucosaminyltransferase activity GO:0008375 9.46 B3GALNT2 LARGE1 POMGNT1 POMGNT2
4 transferase activity GO:0016740 9.44 B3GALNT2 B4GAT1 FKRP FKTN GMPPB ISPD
5 glucuronosyltransferase activity GO:0015020 9.43 B4GAT1 LARGE1
6 dystroglycan binding GO:0002162 9.43 DAG1 DMD FKRP
7 vinculin binding GO:0017166 9.37 DAG1 DMD
8 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.32 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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