MCID: WLK001
MIFTS: 48

Walker-Warburg Syndrome malady

Muscle diseases category

Summaries for Walker-Warburg Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Walker-warburg syndrome (wws) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. signs and symptoms are typically present at birth and include hypotonia, muscle weakness, developmental delay, intellectual disability and occasional seizures. it is also associated with lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities, and other abnormalities. most children do not survive beyond the age of three years. it may be caused by mutations in any of several genes including the pomt1, pomt2 and fkrp genes, although in many individuals the genetic cause is unknown. wws is inherited in an autosomal recessive manner. no specific treatment is available; management is generally supportive and preventive. last updated: 3/23/2011

MalaCards: Walker-Warburg Syndrome, also known as cerebroocular dysplasia-muscular dystrophy syndrome, is related to muscular dystrophy and congenital muscular dystrophy. An important gene associated with Walker-Warburg Syndrome is POMT1 (protein-O-mannosyltransferase 1), and among its related pathways are Allograft rejection and Amoebiasis. The compounds dolichol phosphate and alpha-d-mannoside have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skeletal muscle, and related mouse phenotypes are other and cardiovascular system.

Genetics Home Reference:21 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.

Description from OMIM:46 236670,253280

Aliases & Classifications for Walker-Warburg Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle diseases


Aliases & Descriptions:

walker-warburg syndrome 8 42 20 21 10 44
cerebroocular dysplasia-muscular dystrophy syndrome 8 21
chemke syndrome 42 21
cod-md syndrome 42 21
hard syndrome 8 21
cerebroocular dysplasia muscular dystrophy syndrome 42
walker-warburg congenital muscular dystrophy 21
hydrocephalus, agyria, and retinal dysplasia 21
cerebroocular dysgenesis 42
hard +/- e syndrome 42


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Disease Ontology8 DOID:0050560

Related Diseases for Walker-Warburg Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Walker-Warburg Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.1DMD, POMGNT2, POMT2, POMT1, POMGNT1, FKRP
2congenital muscular dystrophy31.0LARGE, DPM3
3limb-girdle muscular dystrophy30.5SGCA, FKRP, DMD
4myopathy30.4DMD, POMT1, POMGNT1, FKRP, FKTN, DAG1
5microcephaly30.2POMT1
6duchenne muscular dystrophy30.2DMD, POMGNT2, FKTN, DAG1, SGCA, LAMA2
7fukuyama congenital muscular dystrophy10.6
8cleft palate10.5
9brain disease10.5
10eye disease10.5
11retinitis10.5
12cleft lip10.4
13neuronitis10.4
14hydrocephalus10.4
15image syndrome10.4
16retinal detachment10.3
17muscular dystrophy-dystroglycanopathy , type a, 710.3
18muscular dystrophy-dystroglycanopathy , type a, 110.3
19leopard syndrome10.2
20dandy-walker syndrome10.2
21buphthalmos10.2
22meningocele10.2
23microphthalmia10.2
24adult syndrome10.2
25cataract10.2
26polyneuropathy10.2
27cerebellar hypoplasia10.2
28muscular dystrophy-dystroglycanopathy , type a, 310.2
29muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.2
30muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.2
31muscular dystrophy-dystroglycanopathy , type a, 1210.2
32muscular dystrophy-dystroglycanopathy , type a, 410.2
33muscular dystrophy-dystroglycanopathy , type b, 110.2
34muscular dystrophy-dystroglycanopathy , type c, 110.2
35muscular dystrophy-dystroglycanopathy , type a, 1310.2
36muscular dystrophy-dystroglycanopathy , type a, 1010.2
37muscular dystrophy-dystroglycanopathy , type a, 210.2
38muscular dystrophy-dystroglycanopathy , type a, 510.2
39muscular dystrophy-dystroglycanopathy , type a, 610.2
40myocarditis10.0DMD
41becker muscular dystrophy10.0DMD
42limb-girdle muscular dystrophy type 2e10.0FKRP, SGCA
43dmd-associated dilated cardiomyopathy10.0SGCA, DMD
44limb-girdle muscular dystrophy, type 2g10.0DMD, FKRP
45limb-girdle muscular dystrophy type 2f10.0SGCA, FKRP, DMD
46limb-girdle muscular dystrophy, type 2b10.0DMD, FKRP, SGCA
47calpainopathy10.0SGCA, FKRP, DMD
48emery-dreifuss muscular dystrophy10.0DMD, LAMA2
49muscular dystrophy-dystroglycanopathy , type c, 510.0POMGNT2, FKRP, LAMA2
50dilated cardiomyopathy10.0DMD, FKRP, SGCA, LAMA2

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



Diseases related to walker-warburg syndrome

Clinical Features for Walker-Warburg Syndrome

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46OMIM
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Clinical features from OMIM:

236670,253280

Drugs & Therapeutics for Walker-Warburg Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Walker-Warburg Syndrome

Drug clinical trials:

Search ClinicalTrials for Walker-Warburg Syndrome

Search NIH Clinical Center for Walker-Warburg Syndrome

Search CenterWatch for Walker-Warburg Syndrome

Genetic Tests for Walker-Warburg Syndrome

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20GeneTests
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Genetic tests related to Walker-Warburg Syndrome:

id Genetic test Affiliating Genes
1 Walker-Warburg Syndrome20

Anatomical Context for Walker-Warburg Syndrome

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32MalaCards
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MalaCards organs/tissues related to Walker-Warburg Syndrome:

32
Brain, Eye, Skeletal muscle, Testis

Animal Models for Walker-Warburg Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Walker-Warburg Syndrome:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.7LAMA2, COL4A1, ISPD, POMT2, POMGNT1, FKTN
2MP:00053858.3DMD, POMT1, POMGNT1, DAG1, SGCA, LARGE
3MP:00053828.2POMK, POMGNT1, FKRP, DAG1, LAMA2, LARGE
4MP:00053918.2COL4A1, DMD, POMGNT1, FKRP, DAG1, LARGE
5MP:00053697.8COL4A1, DMD, POMT1, POMGNT1, FKRP, FKTN
6MP:00053787.5POMGNT1, POMT2, DMD, COL4A1, FKRP, FKTN
7MP:00107687.3POMT1, POMT2, DMD, ISPD, COL4A1, POMGNT1
8MP:00053867.2COL4A1, DMD, POMK, POMGNT1, FKRP, FKTN
9MP:00053847.2POMK, DMD, ISPD, COL4A1, POMT2, POMGNT1
10MP:00053767.0POMGNT1, DMD, MGAT5B, COL4A1, FKRP, FKTN
11MP:00036316.4COL4A1, ISPD, MGAT5B, DMD, POMK, POMT2

Publications for Walker-Warburg Syndrome

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50PubMed
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Articles related to Walker-Warburg Syndrome:

(show top 50)    (show all 111)
idTitleAuthorsYear
1
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. (23877401)
2013
2
Walker Warburg syndrome associated with microphthalmos and megalophthalmos: A rare combination. (24082679)
2013
3
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. (24120487)
2013
4
Missense mutations in I^-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. (23359570)
2013
5
Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. (22790300)
2012
6
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. (22522420)
2012
7
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. (22958903)
2012
8
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. (21625620)
2011
9
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. (20069672)
2010
10
A case study on Walker-Warburg syndrome. (20150777)
2010
11
Increased apoptosis of myoblasts in Drosophila model for the Walker-Warburg syndrome. (20644630)
2010
12
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. (19519795)
2009
13
Walker-Warburg Syndrome Manifesting as Leopard Spot Retinopathy, Retinal Detachment, and Microphthalmia. (19791710)
2009
14
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. (18640039)
2008
15
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. (18177472)
2008
16
Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. (18923033)
2008
17
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. (18752264)
2008
18
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. (17436019)
2007
19
Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families. (17079174)
2007
20
A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. (17161965)
2007
21
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. (15894594)
2005
22
Walker-Warburg syndrome: congenital neurodysplasia and bilateral retinal folds. (15185798)
2004
23
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (15121789)
2004
24
Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation. (15522202)
2004
25
A homozygous nonsense mutation in the fukutin gene causes a Walker- Warburg syndrome phenotype. (14627679)
2003
26
Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation. (12757935)
2003
27
Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome. (12788039)
2003
28
Anaesthesia for a child with Walker-Warburg syndrome. (12950865)
2003
29
De novo translocation t(5;6)(q35;q21) in an infant with Walker-Warburg syndrome. (11932995)
2002
30
Walker-Warburg syndrome. Report of two cases. (10667295)
1999
31
A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor? (10426185)
1999
32
Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome. (9845296)
1998
33
Importance of etiologic diagnosis of hydrocephalus as illustrated by a case of Walker Warburg syndrome. (9567537)
1997
34
Pediatric case of the day. Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). (9308119)
1997
35
Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. (7604843)
1995
36
A case of Walker-Warburg syndrome with uncommon findings. Double cortical layer, temporal cyst and increased serum IgM. (8338213)
1993
37
Muscle involvement in Walker-Warburg syndrome. Clinicopathologic features of four cases. (8249887)
1993
38
Ocular findings in Walker-Warburg syndrome. (8306359)
1993
39
Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. (8214343)
1993
40
Walker-Warburg syndrome: a report of 3 cases. (8278176)
1993
41
Congenital polyneuropathy in Walker-Warburg syndrome. (1565212)
1992
42
Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy. (1518026)
1992
43
The Walker-Warburg syndrome. (1302142)
1992
44
Walker-Warburg syndrome. (1595429)
1992
45
Dandy-Walker malformation, cranial meningocele, ocular abnormalities, and cleft palate: Walker-Warburg syndrome? (1870940)
1991
46
Muscle-eye-brain disease and Walker-Warburg syndrome. (2363444)
1990
47
Walker-Warburg syndrome. Case report and literature review. (2377348)
1990
48
The prenatal diagnosis of the Walker-Warburg syndrome. (3523475)
1986
49
Walker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome). (3088278)
1986
50
Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis. (6504323)
1984

Genetic Variations for Walker-Warburg Syndrome

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Expression for genes affiliated with Walker-Warburg Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Walker-Warburg Syndrome

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Pathways for genes affiliated with Walker-Warburg Syndrome

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29KEGG, 51QIAGEN, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Walker-Warburg Syndrome

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28IUPHAR, 24HMDB, 44Novoseek, 11DrugBank
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Compounds related to Walker-Warburg Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dolichol phosphate28 2410.8POMT1, POMT2
2alpha-d-mannoside449.4POMGNT1, POMGNT2
3gdpmannose449.1POMGNT2, ALG1
4heparin44 28 11 2411.5LAMB2, LAMA2, DAG1, POMGNT2, DMD
5mannose448.1ALG1, FKTN, POMGNT1, POMT1, POMGNT2, MGAT5B

GO Terms for genes affiliated with Walker-Warburg Syndrome

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16Gene Ontology
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Cellular components related to Walker-Warburg Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:0056049.6DAG1, LAMA2, LAMB2
2dystrophin-associated glycoprotein complexGO:0160109.6SGCA, DAG1, FKRP, DMD
3extracellular matrixGO:0310129.4LAMB2, LAMA2, COL4A1
4membrane raftGO:0451219.3SGCA, DAG1, DMD
5sarcolemmaGO:0423839.3DMD, FKRP, DAG1, SGCA, LAMA2
6endoplasmic reticulumGO:0057838.3POMGNT2, POMT1, FKTN, DPM3, ALG1
7endoplasmic reticulum membraneGO:0057897.9POMGNT2, POMK, POMT2, POMT1, DPM3, ALG1
8integral to membraneGO:0160216.5MGAT5B, POMGNT2, POMK, POMT2, POMT1, POMGNT1

Biological processes related to Walker-Warburg Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein O-linked mannosylationGO:0352699.9DPM3, ISPD
2muscle cell cellular homeostasisGO:0467169.8LARGE, DMD
3mannosylationGO:0975029.7POMT1, ALG1
4glycoprotein biosynthetic processGO:0091019.6LARGE, FKRP
5muscle organ developmentGO:0075179.4DMD, FKTN, SGCA, LAMA2
6extracellular matrix organizationGO:0301988.7COL4A1, DMD, POMT1, DAG1, LAMA2, LAMB2
7protein O-linked glycosylationGO:0064938.5POMGNT1, POMT1, POMT2, POMK, POMGNT2

Molecular functions related to Walker-Warburg Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:00416910.1POMT1, POMT2
2transferase activityGO:01674010.0FKTN, FKRP
3mannosyltransferase activityGO:0000309.8ALG1, POMT1
4vinculin bindingGO:0171669.8DMD, DAG1
5acetylglucosaminyltransferase activityGO:0083759.0LARGE, POMGNT2

Products for genes affiliated with Walker-Warburg Syndrome

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Sources for Walker-Warburg Syndrome

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3CDC
13ExPASy
14FMA
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
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40NDF-RT
43NINDS
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57SNOMED-CT via Orphanet
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