MCID: WLK001
MIFTS: 45

Walker-Warburg Syndrome malady

Muscle category

Summaries for Walker-Warburg Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 fukuyama type muscular dystrophy and limb-girdle 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, skeletal muscle and testis, 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:47 236670,253280

Aliases & Classifications for Walker-Warburg Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 47OMIM
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Classifications:

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


Aliases & Descriptions:

walker-warburg syndrome 8 43 20 21 10 45
cerebroocular dysplasia-muscular dystrophy syndrome 8 21
chemke syndrome 43 21
cod-md syndrome 43 21
hard syndrome 8 21
cerebroocular dysplasia muscular dystrophy syndrome 43
walker-warburg congenital muscular dystrophy 21
hydrocephalus, agyria, and retinal dysplasia 21
cerebroocular dysgenesis 43
hard +/- e syndrome 43


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Disease Ontology8 DOID:0050560

Related Diseases for Walker-Warburg Syndrome

Sources:
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 61)
idRelated DiseaseScoreTop Affiliating Genes
1fukuyama type muscular dystrophy30.8MGAT5B, DMD, POMGNT2, POMT1, POMGNT1, FKTN
2limb-girdle muscular dystrophy30.5SGCA, FKRP, DMD
3mental retardation30.5DMD, POMT1, POMGNT1, FKRP, FKTN
4microcephaly30.3POMT1
5duchenne muscular dystrophy30.3DMD, POMGNT2, FKTN, DAG1, SGCA, LAMA2
6n syndrome10.7
7fukuyama congenital muscular dystrophy10.6
8cleft palate10.5
9brain disease10.5
10micro syndrome10.5
11warburg micro syndrome10.5
12ocular muscular dystrophy10.4
13muscular dystrophy-dystroglycanopathy , type a, 710.4
14muscular dystrophy-dystroglycanopathy , type a, 110.4
15leopard syndrome10.2
16dandy-walker syndrome10.2
17buphthalmos10.2
18meningocele10.2
19microphthalmia10.2
20adult syndrome10.2
21cerebellar hypoplasia10.2
22star syndrome10.2
23persistent hyperplastic primary vitreous10.2
24microtia10.2
25muscular dystrophy-dystroglycanopathy , type a, 310.2
26muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.2
27muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.2
28muscular dystrophy-dystroglycanopathy , type a, 1210.2
29muscular dystrophy-dystroglycanopathy , type a, 410.2
30muscular dystrophy-dystroglycanopathy , type b, 110.2
31muscular dystrophy-dystroglycanopathy , type c, 110.2
32muscular dystrophy-dystroglycanopathy , type a, 1310.2
33muscular dystrophy-dystroglycanopathy , type a, 1010.2
34muscular dystrophy-dystroglycanopathy , type a, 210.2
35cataract, congenital10.2
36muscular dystrophy-dystroglycanopathy , type a, 510.2
37muscular dystrophy-dystroglycanopathy , type a, 610.2
38cranial meningocele10.2
39encephalocele10.1
40hydrocephalus autosomal recessive10.1
41myocarditis10.0DMD
42becker muscular dystrophy10.0DMD
43congenital muscular dystrophy10.0LARGE, DPM3
44limb-girdle muscular dystrophy type 2e10.0FKRP, SGCA
45dmd-associated dilated cardiomyopathy10.0SGCA, DMD
46limb-girdle muscular dystrophy, type 2g10.0DMD, FKRP
47limb-girdle muscular dystrophy type 2f10.0SGCA, FKRP, DMD
48limb-girdle muscular dystrophy, type 2b10.0DMD, FKRP, SGCA
49calpainopathy10.0SGCA, FKRP, DMD
50emery-dreifuss muscular dystrophy10.0DMD, 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

Sources:
47OMIM
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Clinical features from OMIM:

236670,253280

Drugs & Therapeutics for Walker-Warburg Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Walker-Warburg Syndrome:

33
Brain, Skeletal muscle, Testis

Animal Models for Walker-Warburg Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Walker-Warburg Syndrome

Sources:
51PubMed
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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
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. (22522420)
2012
6
Walker-Warburg syndrome. (22691590)
2011
7
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. (21625620)
2011
8
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. (20069672)
2010
9
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome. (19222032)
2009
10
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. (18640039)
2008
11
Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. (18069971)
2008
12
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. (18177472)
2008
13
Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. (18923033)
2008
14
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. (18752264)
2008
15
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. (17436019)
2007
16
The Walker-Warburg syndrome with cleft lip and palate. (17304384)
2007
17
Expression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndrome. (17456771)
2007
18
Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families. (17079174)
2007
19
Walker-Warburg Syndrome. (17070491)
2006
20
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. (16575835)
2006
21
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. (15792865)
2005
22
Walker-Warburg syndrome and limb girdle muscular dystrophy; two sides of the same coin. (15792864)
2005
23
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. (15894594)
2005
24
Glyc-O-genetics of Walker-Warburg syndrome. (15733261)
2005
25
Walker-Warburg syndrome: diffusion MR imaging. (16134304)
2005
26
Walker-Warburg syndrome: congenital neurodysplasia and bilateral retinal folds. (15185798)
2004
27
A homozygous nonsense mutation in the fukutin gene causes a Walker- Warburg syndrome phenotype. (14627679)
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
Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. (10738921)
2000
31
A case of Walker-Warburg syndrome. (11102733)
2000
32
Congenital unilateral buphthalmos in Walker-Warburg syndrome: a clinicopathological study. (10707144)
1999
33
Walker-Warburg syndrome. Report of two cases. (10667295)
1999
34
Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome. (9845296)
1998
35
Importance of etiologic diagnosis of hydrocephalus as illustrated by a case of Walker Warburg syndrome. (9567537)
1997
36
Pediatric case of the day. Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). (9308119)
1997
37
Special imaging casebook. Walker-Warburg syndrome. (9210086)
1997
38
Three siblings with Walker-Warburg Syndrome. (8780938)
1996
39
Muscle involvement in Walker-Warburg syndrome. Clinicopathologic features of four cases. (8249887)
1993
40
Ocular findings in Walker-Warburg syndrome. (8306359)
1993
41
Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. (8214343)
1993
42
Walker-Warburg syndrome: a report of 3 cases. (8278176)
1993
43
Antenatal sonographic features of Walker-Warburg syndrome. Value of endovaginal sonography. (1608094)
1992
44
Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy. (1518026)
1992
45
The Walker-Warburg syndrome. (1302142)
1992
46
Walker-Warburg syndrome. (1595429)
1992
47
Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: new entity or variant of Walker-Warburg syndrome? (1867258)
1991
48
Walker-Warburg syndrome with microtia and absent auditory canals. (2240049)
1990
49
Walker-Warburg syndrome. (2290488)
1990
50
Prenatal diagnosis of retinal detachment in Walker-Warburg syndrome. (3122570)
1987

Genetic Variations for Walker-Warburg Syndrome

Expression for genes affiliated with Walker-Warburg Syndrome

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

Search GEO for disease gene expression data for Walker-Warburg Syndrome.

Pathways for genes affiliated with Walker-Warburg Syndrome

Sources:
30KEGG, 52QIAGEN, 38NCBI BioSystems Database, 54Reactome
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Compounds for genes affiliated with Walker-Warburg Syndrome

Sources:
29IUPHAR, 24HMDB, 45Novoseek, 11DrugBank
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Compounds related to Walker-Warburg Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dolichol phosphate29 2410.8POMT1, POMT2
2alpha-d-mannoside459.4POMGNT1, POMGNT2
3gdpmannose459.1POMGNT2, ALG1
4heparin45 29 11 2411.5LAMB2, LAMA2, DAG1, POMGNT2, DMD
5mannose458.1ALG1, FKTN, POMGNT1, POMT1, POMGNT2, MGAT5B

GO Terms for genes affiliated with Walker-Warburg Syndrome

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet