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 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 lissencephaly and muscular dystrophy-dystroglycanopathy , type c, 1, 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 121)
# Related Disease Score Top Affiliating Genes
1 lissencephaly 32.8 DAG1 FKRP FKTN RXYLT1
2 muscular dystrophy-dystroglycanopathy , type c, 1 32.6 POMT1 POMT2
3 muscular dystrophy-dystroglycanopathy , type a, 4 32.6 DAG1 DMD FKRP FKTN LAMA2 LARGE1
4 muscular dystrophy-dystroglycanopathy , type a, 1 32.6 B4GAT1 DAG1 DMD FKRP FKTN LAMA2
5 autosomal recessive limb-girdle muscular dystrophy 30.5 DMD FKRP POMT1 SGCA
6 muscular dystrophy, congenital, lmna-related 30.3 B3GALNT2 DAG1 DMD FKRP FKTN LAMA2
7 limb-girdle muscular dystrophy 30.2 DMD FKRP FKTN LAMA2 POMGNT1 POMT1
8 muscular dystrophy-dystroglycanopathy 29.9 B3GALNT2 DAG1 FKRP GMPPB POMGNT1 POMGNT2
9 muscular dystrophy 29.4 B3GALNT2 B4GAT1 DAG1 DMD FKRP FKTN
10 muscle eye brain disease 29.3 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 10.6
32 fukuyama type muscular dystrophy 10.5
33 muscular dystrophy-dystroglycanopathy , type c, 2 10.4 POMT1 POMT2
34 congenital muscular dystrophy without intellectual disability 10.4 FKRP FKTN POMT1
35 cleft palate, isolated 10.4
36 retinal detachment 10.4
37 cleft lip 10.4
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 polyglucosan body myopathy 1 with or without immunodeficiency 10.4 DMD FKRP
41 congenital nervous system abnormality 10.3 FKTN POMGNT1 POMT1
42 autosomal recessive limb-girdle muscular dystrophy type 2l 10.3 FKRP FKTN POMT1 POMT2
43 muscular dystrophy-dystroglycanopathy , type c, 4 10.3 FKRP FKTN POMT1 POMT2
44 autosomal recessive limb-girdle muscular dystrophy type 2a 10.3 FKRP SGCA
45 muscular dystrophy-dystroglycanopathy , type c, 5 10.3 FKRP LAMA2 POMGNT2
46 autosomal recessive limb-girdle muscular dystrophy type 2c 10.3 DMD SGCA
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
48 sensorineural hearing loss 10.3
49 myopathy 10.3
50 congenital hydrocephalus 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 10.29 B3GNT2 B4GAT1 COL4A1 DAG1 DMD FKRP
2 cellular MP:0005384 10.27 B3GNT2 B4GAT1 COL4A1 DAG1 DMD FKRP
3 growth/size/body region MP:0005378 10.22 B3GNT2 COL4A1 DAG1 DMD FKRP FKTN
4 homeostasis/metabolism MP:0005376 10.15 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
5 mortality/aging MP:0010768 10.07 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
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 9.23 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

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
Walker-Warburg syndrome. ( 30504606 )
2018
4
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. ( 28980384 )
2017
5
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. ( 29337005 )
2017
6
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. ( 28815891 )
2017
7
Walker-Warburg syndrome with gonadal dysgenesis: A rare association. ( 28488658 )
2017
8
Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome. ( 29187032 )
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 LARGE1 NM_004737.6(LARGE1): c.1008T> C (p.Asp336=) single nucleotide variant Benign/Likely benign rs115076367 GRCh37 Chromosome 22, 33778028: 33778028
2 LARGE1 NM_004737.6(LARGE1): c.1008T> C (p.Asp336=) single nucleotide variant Benign/Likely benign rs115076367 GRCh38 Chromosome 22, 33382042: 33382042
3 LARGE1 NM_004737.6(LARGE1): c.552G> A (p.Thr184=) single nucleotide variant Conflicting interpretations of pathogenicity rs8142483 GRCh37 Chromosome 22, 34000484: 34000484
4 LARGE1 NM_004737.6(LARGE1): c.552G> A (p.Thr184=) single nucleotide variant Conflicting interpretations of pathogenicity rs8142483 GRCh38 Chromosome 22, 33604498: 33604498
5 LARGE1 NM_004737.6(LARGE1): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs116164106 GRCh37 Chromosome 22, 34046550: 34046550
6 LARGE1 NM_004737.6(LARGE1): c.211G> A (p.Glu71Lys) single nucleotide variant Uncertain significance rs116164106 GRCh38 Chromosome 22, 33650564: 33650564
7 LARGE1 NM_004737.6(LARGE1): c.165G> C (p.Thr55=) single nucleotide variant Benign/Likely benign rs63446460 GRCh37 Chromosome 22, 34046596: 34046596
8 LARGE1 NM_004737.6(LARGE1): c.165G> C (p.Thr55=) single nucleotide variant Benign/Likely benign rs63446460 GRCh38 Chromosome 22, 33650610: 33650610
9 FKTN NM_001079802.1(FKTN): c.668C> T (p.Thr223Ile) single nucleotide variant Benign/Likely benign rs116105846 GRCh38 Chromosome 9, 105607839: 105607839
10 FKTN NM_001079802.1(FKTN): c.668C> T (p.Thr223Ile) single nucleotide variant Benign/Likely benign rs116105846 GRCh37 Chromosome 9, 108370120: 108370120
11 POMT1 NM_007171.3(POMT1): c.1611C> G (p.Ser537Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs150367385 GRCh38 Chromosome 9, 131519447: 131519447
12 POMT1 NM_007171.3(POMT1): c.1611C> G (p.Ser537Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs150367385 GRCh37 Chromosome 9, 134394834: 134394834
13 FKRP NM_024301.4(FKRP): c.1442C> A (p.Pro481His) single nucleotide variant Uncertain significance rs727502844 GRCh38 Chromosome 19, 46756892: 46756892
14 FKRP NM_024301.4(FKRP): c.1442C> A (p.Pro481His) single nucleotide variant Uncertain significance rs727502844 GRCh37 Chromosome 19, 47260149: 47260149
15 FKRP NM_024301.4(FKRP): c.1073C> T (p.Pro358Leu) single nucleotide variant Uncertain significance rs143031195 GRCh37 Chromosome 19, 47259780: 47259780
16 FKRP NM_024301.4(FKRP): c.1073C> T (p.Pro358Leu) single nucleotide variant Uncertain significance rs143031195 GRCh38 Chromosome 19, 46756523: 46756523
17 FKRP NM_024301.4(FKRP): c.740C> A (p.Pro247Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs528000488 GRCh37 Chromosome 19, 47259447: 47259447
18 FKRP NM_024301.4(FKRP): c.740C> A (p.Pro247Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs528000488 GRCh38 Chromosome 19, 46756190: 46756190
19 POMT1 NM_007171.3(POMT1): c.1764C> T (p.Ser588=) single nucleotide variant Conflicting interpretations of pathogenicity rs150814269 GRCh37 Chromosome 9, 134395580: 134395580
20 POMT1 NM_007171.3(POMT1): c.1764C> T (p.Ser588=) single nucleotide variant Conflicting interpretations of pathogenicity rs150814269 GRCh38 Chromosome 9, 131520193: 131520193
21 FKTN NM_001079802.1(FKTN): c.1159G> A (p.Gly387Arg) single nucleotide variant Uncertain significance rs148975262 GRCh37 Chromosome 9, 108382329: 108382329
22 FKTN NM_001079802.1(FKTN): c.1159G> A (p.Gly387Arg) single nucleotide variant Uncertain significance rs148975262 GRCh38 Chromosome 9, 105620048: 105620048
23 LARGE1 NM_004737.6(LARGE1): c.1788G> A (p.Ala596=) single nucleotide variant Conflicting interpretations of pathogenicity rs74550830 GRCh37 Chromosome 22, 33679277: 33679277
24 LARGE1 NM_004737.6(LARGE1): c.1788G> A (p.Ala596=) single nucleotide variant Conflicting interpretations of pathogenicity rs74550830 GRCh38 Chromosome 22, 33283291: 33283291
25 LARGE1 NM_004737.6(LARGE1): c.1962G> A (p.Glu654=) single nucleotide variant Conflicting interpretations of pathogenicity rs141089495 GRCh37 Chromosome 22, 33673157: 33673157
26 LARGE1 NM_004737.6(LARGE1): c.1962G> A (p.Glu654=) single nucleotide variant Conflicting interpretations of pathogenicity rs141089495 GRCh38 Chromosome 22, 33277171: 33277171
27 POMT1 NM_007171.3(POMT1): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic rs794727208 GRCh37 Chromosome 9, 134396832: 134396832
28 POMT1 NM_007171.3(POMT1): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic rs794727208 GRCh38 Chromosome 9, 131521445: 131521445
29 POMT1 NM_007171.3(POMT1): c.1958C> T (p.Pro653Leu) single nucleotide variant Pathogenic/Likely pathogenic rs149682171 GRCh37 Chromosome 9, 134397500: 134397500
30 POMT1 NM_007171.3(POMT1): c.1958C> T (p.Pro653Leu) single nucleotide variant Pathogenic/Likely pathogenic rs149682171 GRCh38 Chromosome 9, 131522113: 131522113
31 POMT1 NM_007171.3(POMT1): c.42C> T (p.Asp14=) single nucleotide variant Conflicting interpretations of pathogenicity rs150937126 GRCh37 Chromosome 9, 134379647: 134379647
32 POMT1 NM_007171.3(POMT1): c.42C> T (p.Asp14=) single nucleotide variant Conflicting interpretations of pathogenicity rs150937126 GRCh38 Chromosome 9, 131504260: 131504260
33 POMT1 NM_007171.3(POMT1): c.2163C> A (p.Tyr721Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs138902646 GRCh37 Chromosome 9, 134398412: 134398412
34 POMT1 NM_007171.3(POMT1): c.2163C> A (p.Tyr721Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs138902646 GRCh38 Chromosome 9, 131523025: 131523025
35 FKRP NM_024301.4(FKRP): c.636G> A (p.Ala212=) single nucleotide variant Benign/Likely benign rs370099812 GRCh37 Chromosome 19, 47259343: 47259343
36 FKRP NM_024301.4(FKRP): c.636G> A (p.Ala212=) single nucleotide variant Benign/Likely benign rs370099812 GRCh38 Chromosome 19, 46756086: 46756086
37 FKRP NM_024301.4(FKRP): c.586G> A (p.Gly196Arg) single nucleotide variant Uncertain significance rs759875552 GRCh37 Chromosome 19, 47259293: 47259293
38 FKRP NM_024301.4(FKRP): c.586G> A (p.Gly196Arg) single nucleotide variant Uncertain significance rs759875552 GRCh38 Chromosome 19, 46756036: 46756036
39 FKRP NM_024301.4(FKRP): c.954C> T (p.Cys318=) single nucleotide variant Conflicting interpretations of pathogenicity rs755968761 GRCh37 Chromosome 19, 47259661: 47259661
40 FKRP NM_024301.4(FKRP): c.954C> T (p.Cys318=) single nucleotide variant Conflicting interpretations of pathogenicity rs755968761 GRCh38 Chromosome 19, 46756404: 46756404
41 FKRP NM_024301.4(FKRP): c.1179A> G (p.Val393=) single nucleotide variant Benign/Likely benign rs145894568 GRCh37 Chromosome 19, 47259886: 47259886
42 FKRP NM_024301.4(FKRP): c.1179A> G (p.Val393=) single nucleotide variant Benign/Likely benign rs145894568 GRCh38 Chromosome 19, 46756629: 46756629
43 POMT1 NM_007171.3(POMT1): c.1052+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202095070 GRCh37 Chromosome 9, 134386863: 134386863
44 POMT1 NM_007171.3(POMT1): c.1052+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202095070 GRCh38 Chromosome 9, 131511476: 131511476
45 POMT1 NM_007171.3(POMT1): c.2125G> A (p.Ala709Thr) single nucleotide variant Uncertain significance rs535544133 GRCh38 Chromosome 9, 131522987: 131522987
46 POMT1 NM_007171.3(POMT1): c.2125G> A (p.Ala709Thr) single nucleotide variant Uncertain significance rs535544133 GRCh37 Chromosome 9, 134398374: 134398374
47 POMT1 NM_007171.3(POMT1): c.2233C> T (p.Arg745Ter) single nucleotide variant Uncertain significance rs202202445 GRCh38 Chromosome 9, 131523095: 131523095
48 POMT1 NM_007171.3(POMT1): c.2233C> T (p.Arg745Ter) single nucleotide variant Uncertain significance rs202202445 GRCh37 Chromosome 9, 134398482: 134398482
49 POMT1 NM_007171.3(POMT1): c.2244G> A (p.Ter748=) single nucleotide variant Conflicting interpretations of pathogenicity rs147143094 GRCh38 Chromosome 9, 131523106: 131523106
50 POMT1 NM_007171.3(POMT1): c.2244G> A (p.Ter748=) single nucleotide variant Conflicting interpretations of pathogenicity rs147143094 GRCh37 Chromosome 9, 134398493: 134398493

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 B3GALNT2 B3GNT2 B4GAT1 FKRP FKTN GMPPB
2
Show member pathways
13.42 B3GALNT2 B3GNT2 B4GAT1 DAG1 GMPPB LARGE1
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
11.95 DAG1 DMD LAMA2 SGCA
6
Show member pathways
11.86 COL4A1 DAG1 LAMB2
7
Show member pathways
11.85 COL4A1 DAG1 LAMA2 LAMB2
8 11.67 COL4A1 LAMA2 LAMB2
9 11.64 COL4A1 LAMA2 LAMB2
10
Show member pathways
11.58 B3GALNT2 B3GNT2 B4GAT1 DAG1 LARGE1 POMGNT1
11 11.36 DAG1 LAMA2 LAMB2
12 11.06 B3GALNT2 B4GAT1 FKRP FKTN LARGE1 POMGNT1
13 10.87 POMT1 POMT2
14 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 13)
# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.91 B3GALNT2 B3GNT2 B4GAT1 DMD FKRP FKTN
2 Golgi membrane GO:0000139 9.87 B3GALNT2 B3GNT2 B4GAT1 FKRP LARGE1 POMGNT1
3 collagen-containing extracellular matrix GO:0062023 9.8 COL4A1 DAG1 LAMA2 LAMB2
4 basement membrane GO:0005604 9.67 COL4A1 DAG1 LAMA2 LAMB2
5 costamere GO:0043034 9.52 DAG1 DMD
6 synaptic cleft GO:0043083 9.48 LAMA2 LAMB2
7 dystroglycan complex GO:0016011 9.46 DAG1 SGCA
8 integral component of Golgi membrane GO:0030173 9.46 B4GAT1 FKTN LARGE1 POMGNT1
9 sarcolemma GO:0042383 9.35 DAG1 DMD FKRP LAMA2 SGCA
10 dystrophin-associated glycoprotein complex GO:0016010 8.8 DAG1 DMD SGCA
11 membrane GO:0016020 10.39 B3GALNT2 B3GNT2 B4GAT1 DAG1 DMD FKRP
12 integral component of membrane GO:0016021 10.25 B3GALNT2 B3GNT2 B4GAT1 DAG1 FKRP FKTN
13 endoplasmic reticulum GO:0005783 10.03 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 9.9 B3GALNT2 B3GNT2 B4GAT1 FKRP FKTN LARGE1
2 extracellular matrix organization GO:0030198 9.77 COL4A1 DAG1 LAMA2 LAMB2 POMT1
3 axon guidance GO:0007411 9.76 B3GNT2 B4GAT1 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 keratan sulfate biosynthetic process GO:0018146 9.57 B3GNT2 B4GAT1
7 muscle cell cellular homeostasis GO:0046716 9.56 DMD LARGE1
8 skeletal muscle tissue regeneration GO:0043403 9.56 DAG1 DMD LARGE1 SGCA
9 mannosylation GO:0097502 9.55 POMT1 POMT2
10 basement membrane organization GO:0071711 9.54 COL4A1 DAG1
11 poly-N-acetyllactosamine biosynthetic process GO:0030311 9.52 B3GNT2 B4GAT1
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 9.43 POMT1 POMT2
17 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.77 B3GALNT2 B3GNT2 B4GAT1 FKRP FKTN GMPPB
2 extracellular matrix structural constituent GO:0005201 9.61 COL4A1 LAMA2 LAMB2
3 glucuronosyltransferase activity GO:0015020 9.49 B4GAT1 LARGE1
4 acetylgalactosaminyltransferase activity GO:0008376 9.48 B3GALNT2 B3GNT2
5 galactosyltransferase activity GO:0008378 9.46 B3GALNT2 B3GNT2
6 acetylglucosaminyltransferase activity GO:0008375 9.46 B3GALNT2 LARGE1 POMGNT1 POMGNT2
7 dystroglycan binding GO:0002162 9.43 DAG1 DMD FKRP
8 vinculin binding GO:0017166 9.4 DAG1 DMD
9 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity GO:0008532 9.37 B3GNT2 B4GAT1
10 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.32 POMT1 POMT2
11 transferase activity, transferring glycosyl groups GO:0016757 9.23 B3GALNT2 B3GNT2 B4GAT1 LARGE1 POMGNT1 POMGNT2

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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