MCID: WLK001
MIFTS: 59

Walker-Warburg Syndrome

Categories: Eye diseases, Fetal diseases, Genetic 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 54 26 60 56 6 45 15
Walker-Warburg Congenital Muscular Dystrophy 26 30 6 74
Hard Syndrome 12 54 26 60
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 12 26
Cod-Md Syndrome 54 26
Chemke Syndrome 54 26
Muscular Dystrophy-Dystroglycanopathy [with Brain and Eye Anomalies], Type a 26
Cerebroocular Dysplasia Muscular Dystrophy Syndrome 54
Muscular Dystrophy-Dystroglycanopathy , Type a 26
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome 60
Dystrophy, Muscular, Dystroglycanopathy, Type a 41
Hydrocephalus, Agyria, and Retinal Dysplasia 26
Muscular Dystrophy-Dystroglycanopathy Type a 38
Hydrocephalus, Agyria and Retinal Dysplasia 54
Cerebroocular Dysgenesis 54
Syndrome, Walker-Warburg 41
Hard +/- E Syndrome 54
Warburg Syndrome 54
Pagon Syndrome 54
Mddga 26
Wws 60

Characteristics:

Orphanet epidemiological data:

60
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 : 54 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 c, 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 hydrocephalus and intellectual disability

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 : 26 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 : 77 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 129)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 1 33.1 POMT1 POMT2
2 muscular dystrophy-dystroglycanopathy , type a, 4 32.9 DAG1 DMD FKRP FKTN LAMA2 LARGE1
3 muscular dystrophy-dystroglycanopathy , type a, 1 32.9 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
4 lissencephaly 32.9 DAG1 FKRP FKTN RXYLT1
5 muscular dystrophy-dystroglycanopathy , type c, 4 30.7 FKRP FKTN POMT1 POMT2
6 muscular dystrophy-dystroglycanopathy , type c, 5 30.6 FKRP LAMA2 POMGNT2
7 autosomal recessive limb-girdle muscular dystrophy 30.5 DMD FKRP POMT1 SGCA
8 muscular dystrophy, congenital, lmna-related 30.3 B3GALNT2 DAG1 DMD FKRP FKTN LAMA2
9 limb-girdle muscular dystrophy 30.2 DMD FKRP FKTN LAMA2 POMGNT1 POMT1
10 muscular dystrophy-dystroglycanopathy 29.8 B3GALNT2 DAG1 FKRP GMPPB POMGNT1 POMGNT2
11 muscular dystrophy 29.4 B3GALNT2 B4GAT1 DAG1 DMD FKRP FKTN
12 muscle eye brain disease 29.3 B3GALNT2 B4GAT1 DAG1 FKRP FKTN GMPPB
13 muscular dystrophy-dystroglycanopathy , type a, 7 12.3
14 muscular dystrophy-dystroglycanopathy , type a, 5 12.3
15 muscular dystrophy-dystroglycanopathy , type a, 13 12.3
16 muscular dystrophy-dystroglycanopathy , type a, 2 12.3
17 muscular dystrophy-dystroglycanopathy , type a, 6 12.3
18 muscular dystrophy-dystroglycanopathy , type a, 8 12.3
19 muscular dystrophy-dystroglycanopathy , type a, 9 12.3
20 palmer pagon syndrome 12.2
21 muscular dystrophy-dystroglycanopathy , type a, 3 12.1
22 muscular dystrophy-dystroglycanopathy , type a, 10 12.1
23 muscular dystrophy-dystroglycanopathy , type a, 11 12.1
24 muscular dystrophy-dystroglycanopathy , type a, 12 12.1
25 muscular dystrophy-dystroglycanopathy , type a, 14 12.0
26 muscular dystrophy-dystroglycanopathy , type b, 1 11.7
27 cerebellar hypoplasia 11.4
28 muscular dystrophy, congenital, merosin-positive 11.4
29 norrie disease 11.3
30 apocrine gland secretion, variation in 11.3
31 congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 11.1
32 intellectual disability-developmental delay-contractures syndrome 11.1
33 hydrocephalus 10.5
34 congenital hydrocephalus 10.5
35 fukuyama type muscular dystrophy 10.5
36 muscular dystrophy-dystroglycanopathy , type c, 2 10.4 POMT1 POMT2
37 congenital muscular dystrophy without intellectual disability 10.4 FKRP FKTN POMT1
38 muscular dystrophy-dystroglycanopathy , type c, 9 10.4 DAG1 GMPPB
39 autosomal recessive limb-girdle muscular dystrophy type 2d 10.4 FKRP SGCA
40 cleft palate, isolated 10.4
41 retinal detachment 10.4
42 cleft lip 10.4
43 polyglucosan body myopathy 1 with or without immunodeficiency 10.4 DMD FKRP
44 congenital nervous system abnormality 10.3 FKTN POMGNT1 POMT1
45 autosomal recessive limb-girdle muscular dystrophy type 2l 10.3 FKRP FKTN POMT1 POMT2
46 autosomal recessive limb-girdle muscular dystrophy type 2a 10.3 FKRP SGCA
47 autosomal recessive limb-girdle muscular dystrophy type 2c 10.3 DMD SGCA
48 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
49 cataract 10.3
50 sensorineural hearing loss 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:

60 33 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000238
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
5 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
6 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
7 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
8 specific learning disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001328
9 cerebellar hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001321
10 retinal detachment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000541
11 retinal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007973
12 areflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001284
13 chorioretinal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007731
14 hyporeflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001265
15 metatarsus valgus 60 33 hallmark (90%) Very frequent (99-80%) HP:0010508
16 pachygyria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001302
17 polymicrogyria 60 33 hallmark (90%) Very frequent (99-80%) HP:0002126
18 muscular dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003560
19 retinal dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000556
20 abnormal lactate dehydrogenase activity 60 33 hallmark (90%) Very frequent (99-80%) HP:0045040
21 aplasia/hypoplasia involving the skeletal musculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0001460
22 abnormal aldolase level 60 33 hallmark (90%) Very frequent (99-80%) HP:0012400
23 macrogyria 60 33 hallmark (90%) Very frequent (99-80%) HP:0007227
24 abnormal circulating creatine kinase concentration 33 hallmark (90%) HP:0040081
25 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
26 agenesis of corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0001274
27 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
28 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
29 microphthalmia 60 33 frequent (33%) Frequent (79-30%) HP:0000568
30 glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0000501
31 hypoplasia of penis 60 33 frequent (33%) Frequent (79-30%) HP:0008736
32 absent septum pellucidum 60 33 frequent (33%) Frequent (79-30%) HP:0001331
33 anophthalmia 60 33 frequent (33%) Frequent (79-30%) HP:0000528
34 dandy-walker malformation 60 33 frequent (33%) Frequent (79-30%) HP:0001305
35 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
36 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
37 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
38 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
39 protruding ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000411
40 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
41 microcornea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000482
42 bifid uvula 60 33 occasional (7.5%) Occasional (29-5%) HP:0000193
43 submucous cleft hard palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000176
44 posteriorly rotated ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000358
45 cleft palate 60 Occasional (29-5%)
46 ventriculomegaly 60 Very frequent (99-80%)
47 abnormality of neuronal migration 60 Very frequent (99-80%)
48 abnormal levels of creatine kinase in blood 60 Very frequent (99-80%)
49 lissencephaly 60 Very frequent (99-80%)
50 abnormality of the optic nerve 60 Very frequent (99-80%)

UMLS symptoms related to Walker-Warburg Syndrome:


seizures

MGI Mouse Phenotypes related to Walker-Warburg Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.23 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
2 cellular MP:0005384 10.21 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 10.11 COL4A1 DAG1 DMD FKRP FKTN LAMA2
5 mortality/aging MP:0010768 10.07 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 9.8 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 30

Anatomical Context for Walker-Warburg Syndrome

MalaCards organs/tissues related to Walker-Warburg Syndrome:

42
Eye, Brain, Skeletal Muscle, Kidney, Testis, Thyroid, T Cells

Publications for Walker-Warburg Syndrome

Articles related to Walker-Warburg Syndrome:

(show top 50) (show all 132)
# Title Authors Year
1
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
2
Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome. ( 29187032 )
2018
3
Bilateral total retinal detachment at birth: a case report of Walker-Warburg syndrome. ( 29386918 )
2018
4
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. ( 29337005 )
2018
5
Walker-Warburg syndrome. ( 30504606 )
2018
6
Walker-Warburg syndrome with gonadal dysgenesis: A rare association. ( 28488658 )
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
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. ( 28980384 )
2017
9
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome. ( 28116189 )
2016
10
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
11
Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern. ( 26315758 )
2016
12
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. ( 26495167 )
2015
13
Cochlear malformation and sensorineural hearing loss in the Walker-Warburg Syndrome. ( 25592765 )
2015
14
Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome. ( 25934851 )
2015
15
ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome. ( 26087224 )
2015
16
Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome. ( 26265907 )
2015
17
Perioperative considerations in Walker-Warburg syndrome. ( 26401279 )
2015
18
Walker-Warburg syndrome: rare congenital muscular dystrophy associated with brain and eye abnormalities. ( 25488038 )
2014
19
Anesthesia for a child with Walker-Warburg syndrome. ( 24794457 )
2014
20
Walker Warburg syndrome associated with microphthalmos and megalophthalmos: A rare combination. ( 24082679 )
2013
21
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. ( 24120487 )
2013
22
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. ( 23359570 )
2013
23
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. ( 23877401 )
2013
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 α-dystroglycan. ( 22522421 )
2012
27
Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. ( 22790300 )
2012
28
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. ( 22958903 )
2012
29
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. ( 21625620 )
2011
30
Walker-Warburg syndrome. ( 22691590 )
2011
31
Walker-Warburg Syndrome: A Case with multiple uncommon features. ( 27493321 )
2011
32
Two cases of Walker-Warburg syndrome complicated by hydrocephalus. ( 20516736 )
2010
33
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. ( 20069672 )
2010
34
A case study on Walker-Warburg syndrome. ( 20150777 )
2010
35
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. ( 20236121 )
2010
36
Increased apoptosis of myoblasts in Drosophila model for the Walker-Warburg syndrome. ( 20644630 )
2010
37
Walker-Warburg Syndrome Manifesting as Leopard Spot Retinopathy, Retinal Detachment, and Microphthalmia. ( 19791710 )
2009
38
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome. ( 19222032 )
2009
39
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. ( 19266496 )
2009
40
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. ( 19519795 )
2009
41
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. ( 19639522 )
2009
42
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. ( 18640039 )
2008
43
Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. ( 18069971 )
2008
44
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. ( 18177472 )
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
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. ( 18752264 )
2008
47
Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. ( 18923033 )
2008
48
Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families. ( 17079174 )
2007
49
A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. ( 17161965 )
2007
50
The Walker-Warburg syndrome with cleft lip and palate. ( 17304384 )
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.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh37 Chromosome 19, 47259533: 47259533
14 FKRP NM_024301.4(FKRP): c.826C> A (p.Leu276Ile) single nucleotide variant Pathogenic rs28937900 GRCh38 Chromosome 19, 46756276: 46756276
15 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh37 Chromosome 19, 47260193: 47260193
16 FKRP NM_024301.4(FKRP): c.1486T> A (p.Ter496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894682 GRCh38 Chromosome 19, 46756936: 46756936
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_004737.6(LARGE1): c.-31G> A single nucleotide variant Benign/Likely benign rs117199378 GRCh37 Chromosome 22, 34157494: 34157494
48 LARGE1 NM_004737.6(LARGE1): c.-31G> A single nucleotide variant Benign/Likely benign rs117199378 GRCh38 Chromosome 22, 33761507: 33761507
49 LARGE1 NM_004737.6(LARGE1): c.1548C> T (p.Tyr516=) single nucleotide variant Benign/Likely benign rs34292743 GRCh37 Chromosome 22, 33700397: 33700397
50 LARGE1 NM_004737.6(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:

38
# 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.86 B3GALNT2 B4GAT1 FKRP FKTN GMPPB LARGE1
2
Show member pathways
13.49 B3GALNT2 B4GAT1 DAG1 GMPPB LARGE1 POMGNT1
3
Show member pathways
12.51 COL4A1 DAG1 DMD LAMA2 LAMB2
4
Show member pathways
12.18 DAG1 DMD LAMA2 SGCA
5
Show member pathways
11.87 DAG1 DMD LAMA2 SGCA
6
Show member pathways
11.87 B3GALNT2 B4GAT1 DAG1 LARGE1 POMGNT1 POMGNT2
7
Show member pathways
11.75 COL4A1 DAG1 LAMA2 LAMB2
8 11.67 COL4A1 LAMA2 LAMB2
9 11.64 COL4A1 LAMA2 LAMB2
10 11.34 DAG1 LAMA2 LAMB2
11 10.87 POMT1 POMT2
12 10.73 B3GALNT2 B4GAT1 FKRP FKTN LARGE1 POMGNT1
13 10.61 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 8.8 DAG1 DMD 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 14)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.85 B3GALNT2 B4GAT1 FKRP FKTN LARGE1 POMGNT1
2 extracellular matrix organization GO:0030198 9.77 COL4A1 DAG1 LAMA2 LAMB2 POMT1
3 muscle organ development GO:0007517 9.71 DMD FKTN LAMA2 SGCA
4 protein O-linked glycosylation GO:0006493 9.61 B3GALNT2 B4GAT1 FKTN LARGE1 POMGNT1 POMGNT2
5 skeletal muscle tissue regeneration GO:0043403 9.56 DAG1 DMD LARGE1 SGCA
6 muscle cell cellular homeostasis GO:0046716 9.54 DMD LARGE1
7 mannosylation GO:0097502 9.52 POMT1 POMT2
8 basement membrane organization GO:0071711 9.51 COL4A1 DAG1
9 response to denervation involved in regulation of muscle adaptation GO:0014894 9.5 DAG1 DMD SGCA
10 glycoprotein biosynthetic process GO:0009101 9.49 FKRP LARGE1
11 Schwann cell development GO:0014044 9.48 DAG1 LAMB2
12 Schwann cell differentiation GO:0014037 9.46 DAG1 LAMA2
13 positive regulation of protein O-linked glycosylation GO:1904100 9.43 POMT1 POMT2
14 protein O-linked mannosylation GO:0035269 9.23 B4GAT1 FKRP FKTN LARGE1 POMGNT2 POMT1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.73 B3GALNT2 B4GAT1 FKRP FKTN GMPPB LARGE1
2 extracellular matrix structural constituent GO:0005201 9.58 COL4A1 LAMA2 LAMB2
3 acetylglucosaminyltransferase activity GO:0008375 9.46 B3GALNT2 LARGE1 POMGNT1 POMGNT2
4 glucuronosyltransferase activity GO:0015020 9.43 B4GAT1 LARGE1
5 dystroglycan binding GO:0002162 9.43 DAG1 DMD FKRP
6 vinculin binding GO:0017166 9.37 DAG1 DMD
7 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.32 POMT1 POMT2
8 transferase activity, transferring glycosyl groups GO:0016757 9.17 B3GALNT2 B4GAT1 LARGE1 POMGNT1 POMGNT2 POMT1

Sources for Walker-Warburg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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