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:

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Drug clinical trials:

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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
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. (22522421)
2012
2
Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. (22002842)
2012
3
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. (20236121)
2010
4
Two cases of Walker-Warburg syndrome complicated by hydrocephalus. (20516736)
2010
5
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. (19639522)
2009
6
Walker-Warburg Syndrome Manifesting as Leopard Spot Retinopathy, Retinal Detachment, and Microphthalmia. (19791710)
2009
7
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. (19266496)
2009
8
POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo. (18490429)
2008
9
The Walker-Warburg syndrome with cleft lip and palate. (17304384)
2007
10
Walker-Warburg syndrome. (16887026)
2006
11
First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome. (16082720)
2005
12
Difficulties with prenatal diagnosis of the Walker-Warburg syndrome. (16334849)
2005
13
Mutations in POMT1 are found in a minority of patients with Walker- Warburg syndrome. (15637732)
2005
14
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (15121789)
2004
15
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality. (15383666)
2004
16
Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation. (12757935)
2003
17
Walker-Warburg syndrome variant. (12453509)
2002
18
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. (12369018)
2002
19
Walker-Warburg syndrome: case report and review of the literature. (11316321)
2001
20
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. (11320179)
2001
21
Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. (10738921)
2000
22
A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor? (10914982)
2000
23
Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy. (10980312)
2000
24
A patient of Walker-Warburg syndrome with a haplotype different from that in Fukuyama-type congenital muscular dystrophy]. (10487070)
1999
25
A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor? (10426185)
1999
26
Gonadoblastoid testicular dysplasia in Walker-Warburg syndrome. (9688764)
1998
27
Walker-Warburg syndrome: neurologic features and muscle membrane structure. (9492098)
1998
28
Prenatal diagnosis of Walker-Warburg syndrome in three sibs. (9511971)
1998
29
Laminin-alpha 2 chain (merosin M) is preserved in the Walker-Warburg syndrome. (8971752)
1996
30
Neurosurgical management of Walker-Warburg syndrome. (7773974)
1995
31
Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). (7501167)
1995
32
Muscle-eye-brain disease and Walker-Warburg syndrome: phenotype-genotype speculations. Commentary to Pihko's paper (pp. 57-61) (7762766)
1995
33
Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. (7477753)
1995
34
Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. (7818265)
1995
35
Walker-Warburg syndrome: report of three affected sibs. (8116667)
1994
36
A case of Walker-Warburg syndrome with uncommon findings. Double cortical layer, temporal cyst and increased serum IgM. (8338213)
1993
37
Inflammatory myopathy and Walker-Warburg syndrome: etiologic implications. (8221388)
1993
38
Walker-Warburg syndrome: prenatal ultrasound findings. (8415422)
1993
39
Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. Commentary to Kimura's paper (pp. 182-91) (8214355)
1993
40
Cerebro-ocular dysplasia--muscular dystrophy (Walker Warburg) syndrome. Findings in 20-week-old fetus. (1927281)
1991
41
Walker-Warburg syndrome. Case report and literature review. (2377348)
1990
42
Walker-Warburg syndrome. (2602230)
1989
43
Diagnostic criteria for Walker-Warburg syndrome. (2494887)
1989
44
Walker-Warburg syndrome in a Japanese patient. (3072008)
1988
45
Walker-Warburg syndrome with skeletal muscle involvement. A report of three patients. (3454442)
1987
46
Walker-Warburg syndrome with cleft lip and cleft palate in two sibs. (3631127)
1987
47
The prenatal diagnosis of the Walker-Warburg syndrome. (3523475)
1986
48
Walker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome). (3088278)
1986
49
Walker-Warburg syndrome. (4010954)
1985
50
Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. (3931474)
1985

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
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25ICD10
26ICD10 via Orphanet
27ICD9CM
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