MCID: WLK001
MIFTS: 53

Walker-Warburg Syndrome malady

Genetic diseases, Rare diseases, Muscle diseases categories
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Summaries for Walker-Warburg Syndrome

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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 based summary: Walker-Warburg Syndrome, also known as hard syndrome, is related to congenital 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 ECM proteoglycans and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. The compounds Dolichyl phosphate D-mannose and dolichol phosphate have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skeletal muscle, and related mouse phenotypes are vision/eye and craniofacial.

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.

Descriptions from OMIM:46 236670,253280

Aliases & Classifications for Walker-Warburg Syndrome

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Walker-Warburg Syndrome, Aliases & Descriptions:

Name: Walker-Warburg Syndrome 8 42 20 21 10 44 62
Hard Syndrome 8 42 21 62
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 8 21 62
Cod-Md Syndrome 42 21 62
Chemke Syndrome 42 21 62
Walker-Warburg Congenital Muscular Dystrophy 21 62
Warburg Syndrome 42 62
 
Pagon Syndrome 42 62
Cerebroocular Dysplasia Muscular Dystrophy Syndrome 42
Hydrocephalus, Agyria, and Retinal Dysplasia 21
Hydrocephalus, Agyria and Retinal Dysplasia 42
Cerebro-Ocular Dysgenesis 62
Cerebroocular Dysgenesis 42
Hard +/- E Syndrome 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Muscle diseases


External Ids:

Disease Ontology8 DOID:0050560

Related Diseases for Walker-Warburg Syndrome

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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 57)
idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy31.7LARGE
2limb-girdle muscular dystrophy30.9DMD, SGCA, FKRP
3mental retardation30.5DMD, POMGNT1, POMT1, FKTN, FKRP
4duchenne muscular dystrophy30.1FKTN, POMGNT2, LAMA2, SGCA, DMD, DAG1
5lissencephaly30.0POMT2, POMGNT1, DAG1, POMT1, FKTN, FKRP
6muscular dystrophy29.9FKRP, FKTN, POMT1, POMT2, POMGNT1, POMGNT2
7myopathy29.9LAMB2, SGCA, DMD, DAG1, LAMA2, POMGNT1
8muscular dystrophy-dystroglycanopathy , type a, 129.8FKRP, FKTN, POMT1, POMGNT1, POMGNT2, LAMA2
9muscular dystrophy-dystroglycanopathy , type a, 429.4FKTN, POMT1, POMGNT1, POMGNT2, LAMA2, LARGE
10palmer pagon syndrome10.5
11brain disease10.5
12retinitis10.5
13muscle eye brain disease10.5
14hydrocephalus10.5
15neuronitis10.5
16muscular dystrophy-dystroglycanopathy , type a, 1210.5
17cleft palate10.4
18cleft lip10.4
19retinal detachment10.4
20norrie disease10.3
21becker muscular dystrophy10.3DMD
22cataract10.2
23meningocele10.2
24microcephaly10.2
25microphthalmia10.2
26buphthalmos10.2
27polyneuropathy10.2
28cerebellar hypoplasia10.2
29persistent hyperplastic primary vitreous10.2
30microtia10.2
31neuronal migration disorders10.2
32muscular dystrophy-dystroglycanopathy , type a, 310.2
33muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.2
34muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.2
35muscular dystrophy-dystroglycanopathy , type a, 710.2
36muscular dystrophy-dystroglycanopathy , type b, 110.2
37muscular dystrophy-dystroglycanopathy , type c, 110.2
38muscular dystrophy-dystroglycanopathy , type a, 1310.2
39muscular dystrophy-dystroglycanopathy , type a, 1010.2
40muscular dystrophy-dystroglycanopathy , type a, 210.2
41muscular dystrophy-dystroglycanopathy , type a, 510.2
42muscular dystrophy-dystroglycanopathy , type a, 610.2
43cranial meningocele10.2
44dmd-associated dilated cardiomyopathy10.2SGCA, DMD
45calpainopathy10.2SGCA, FKRP
46muscular dystrophy-dystroglycanopathy , type c, 510.2FKRP, POMGNT2, LAMA2
47limb-girdle muscular dystrophy type 2f10.2DMD, SGCA, FKRP
48limb-girdle muscular dystrophy, type 2b10.2FKRP, SGCA, DMD
49emery-dreifuss muscular dystrophy10.1DMD, LAMA2
50neuromuscular disease10.1LAMA2, DMD

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



Diseases related to walker-warburg syndrome

Symptoms for Walker-Warburg Syndrome

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Clinical features from OMIM:

236670,253280

Drugs & Therapeutics for Walker-Warburg Syndrome

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Drug clinical trials:

Search ClinicalTrials for Walker-Warburg Syndrome

Search NIH Clinical Center for Walker-Warburg Syndrome

Genetic Tests for Walker-Warburg Syndrome

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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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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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Publications for Walker-Warburg Syndrome

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Articles related to Walker-Warburg Syndrome:

(show top 50)    (show all 107)
idTitleAuthorsYear
1
Anesthesia for a child with Walker-Warburg syndrome. (24794457)
2014
2
Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. (22790300)
2012
3
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. (22522421)
2012
4
Walker-Warburg syndrome. (22691590)
2011
5
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. (20069672)
2010
6
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. (19639522)
2009
7
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. (19519795)
2009
8
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. (17436019)
2007
9
The Walker-Warburg syndrome with cleft lip and palate. (17304384)
2007
10
Walker-Warburg Syndrome. (17070491)
2006
11
Walker-Warburg syndrome. (16887026)
2006
12
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. (16575835)
2006
13
First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome. (16082720)
2005
14
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
15
Difficulties with prenatal diagnosis of the Walker-Warburg syndrome. (16334849)
2005
16
Walker-Warburg syndrome and limb girdle muscular dystrophy; two sides of the same coin. (15792864)
2005
17
Walker-Warburg syndrome: congenital neurodysplasia and bilateral retinal folds. (15185798)
2004
18
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (15121789)
2004
19
A homozygous nonsense mutation in the fukutin gene causes a Walker- Warburg syndrome phenotype. (14627679)
2003
20
Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation. (12757935)
2003
21
Walker-Warburg syndrome variant. (12453509)
2002
22
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. (12369018)
2002
23
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. (11320179)
2001
24
A case of Walker-Warburg syndrome. (11102733)
2000
25
Congenital unilateral buphthalmos in Walker-Warburg syndrome: a clinicopathological study. (10707144)
1999
26
Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome. (9845296)
1998
27
Gonadoblastoid testicular dysplasia in Walker-Warburg syndrome. (9688764)
1998
28
Importance of etiologic diagnosis of hydrocephalus as illustrated by a case of Walker Warburg syndrome. (9567537)
1997
29
Pediatric case of the day. Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). (9308119)
1997
30
Three siblings with Walker-Warburg Syndrome. (8780938)
1996
31
Neurosurgical management of Walker-Warburg syndrome. (7773974)
1995
32
Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). (7501167)
1995
33
Walker-Warburg syndrome: report of three affected sibs. (8116667)
1994
34
A case of Walker-Warburg syndrome with uncommon findings. Double cortical layer, temporal cyst and increased serum IgM. (8338213)
1993
35
Muscle involvement in Walker-Warburg syndrome. Clinicopathologic features of four cases. (8249887)
1993
36
Ocular findings in Walker-Warburg syndrome. (8306359)
1993
37
Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. (8214343)
1993
38
Inflammatory myopathy and Walker-Warburg syndrome: etiologic implications. (8221388)
1993
39
Congenital polyneuropathy in Walker-Warburg syndrome. (1565212)
1992
40
Antenatal sonographic features of Walker-Warburg syndrome. Value of endovaginal sonography. (1608094)
1992
41
Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy. (1518026)
1992
42
The Walker-Warburg syndrome. (1302142)
1992
43
Cerebro-ocular dysplasia--muscular dystrophy (Walker Warburg) syndrome. Findings in 20-week-old fetus. (1927281)
1991
44
Dandy-Walker malformation, cranial meningocele, ocular abnormalities, and cleft palate: Walker-Warburg syndrome? (1870940)
1991
45
Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: new entity or variant of Walker-Warburg syndrome? (1867258)
1991
46
Walker-Warburg syndrome in a Japanese patient. (3072008)
1988
47
Walker-Warburg syndrome with skeletal muscle involvement. A report of three patients. (3454442)
1987
48
The prenatal diagnosis of the Walker-Warburg syndrome. (3523475)
1986
49
Walker-Warburg syndrome. (4010954)
1985
50
Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis. (6504323)
1984

Variations for Walker-Warburg Syndrome

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Clinvar genetic disease variations for Walker-Warburg Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1POMT1NM_007171.3(POMT1): c.226G> A (p.Gly76Arg)single nucleotide variantPathogenicrs28941782GRCh37Chr 9, 134381604: 134381604
2POMT1NM_007171.3(POMT1): c.907C> T (p.Gln303Ter)single nucleotide variantPathogenicrs119462981GRCh37Chr 9, 134385788: 134385788

Expression for genes affiliated with Walker-Warburg Syndrome

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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

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Compounds for genes affiliated with Walker-Warburg Syndrome

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

idCompoundScoreTop Affiliating Genes
1Dolichyl phosphate D-mannose2410.3POMT2, POMT1
2dolichol phosphate28 2411.1POMT1, POMT2
3manganese44 2410.8POMT1, POMT2, POMGNT1
4alpha-d-mannoside449.5POMGNT2, POMGNT1
5gdpmannose449.3POMGNT2, ALG1
6creatinine449.3DMD, SGCA, LAMA2, FKRP
7mannose448.9ALG1, POMGNT2, MGAT5B
8n-acetyllactosamine44 249.8B3GNT1, POMGNT2
9heparin44 28 24 1111.6POMGNT2, LAMA2, LAMB2, DMD, DAG1

GO Terms for genes affiliated with Walker-Warburg Syndrome

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1costamereGO:0430349.9DMD, DAG1
2dystrophin-associated glycoprotein complexGO:0160109.6FKRP, SGCA, DMD, DAG1
3membrane raftGO:0451219.6DAG1, DMD, SGCA
4basement membraneGO:0056049.4DAG1, LAMB2, LAMA2, COL4A1
5extracellular matrixGO:0310129.3COL4A1, LAMA2, LAMB2
6integral component of Golgi membraneGO:0301739.3LARGE, B3GNT1
7sarcolemmaGO:0423839.3DAG1, DMD, SGCA, LAMA2, FKRP
8Golgi membraneGO:0001398.9MGAT5B, POMGNT1, FKTN, FKRP, B3GNT1
9endoplasmic reticulumGO:0057838.8ALG1, FKTN, POMT1, POMGNT2
10endoplasmic reticulum membraneGO:0057898.3POMGNT2, POMK, POMT2, POMT1, ALG1
11integral component of membraneGO:0160216.7DAG1, MGAT5B, SGCA, POMGNT2, POMK, POMGNT1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1glycoprotein biosynthetic processGO:00910110.0FKRP, LARGE
2mannosylationGO:0975029.8ALG1, POMT1
3basement membrane organizationGO:0717119.8DAG1, COL4A1
4neuromuscular junction developmentGO:0075289.7COL4A1, LAMB2
5myelination in peripheral nervous systemGO:0220119.6LAMA2, DAG1
6muscle organ developmentGO:0075179.6FKTN, LAMA2, SGCA, DMD
7protein glycosylationGO:0064869.3B3GNT1, ALG1, LARGE
8axon guidanceGO:0074118.8ISPD, LAMB2, LAMA2, COL4A1, B3GNT1
9extracellular matrix organizationGO:0301988.8DAG1, DMD, LAMB2, LAMA2, POMT1, COL4A1
10protein O-linked glycosylationGO:0064938.8POMT1, POMGNT1, POMK, POMGNT2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:00416910.2POMT1, POMT2
2mannosyltransferase activityGO:00003010.0ALG1, POMT1
3dystroglycan bindingGO:0021629.9DMD, DAG1
4vinculin bindingGO:0171669.9DAG1, DMD
5structural constituent of muscleGO:0083079.9DMD, DAG1
6transferase activityGO:0167409.7FKRP, FKTN
7acetylglucosaminyltransferase activityGO:0083759.2POMGNT2, LARGE

Products for genes affiliated with Walker-Warburg Syndrome

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Sources for Walker-Warburg Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet