MCID: WLK001
MIFTS: 52

Walker-Warburg Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
Download this MalaCard

Summaries for Walker-Warburg Syndrome

About this section
Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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 hard 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 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.

Description from OMIM:47 236670,253280

Aliases & Classifications for Walker-Warburg Syndrome

About this section
Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 47OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

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


External Ids:

Disease Ontology8 DOID:0050560

Related Diseases for Walker-Warburg Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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
1muscular dystrophy31.4POMT2
2congenital muscular dystrophy31.2LARGE
3limb-girdle muscular dystrophy30.6DMD, FKRP, SGCA
4mental retardation30.6FKRP, POMGNT1, POMT1, FKTN, DMD
5myopathy30.4DAG1, DMD, SGCA, FKRP, FKTN, POMT1
6duchenne muscular dystrophy30.3DAG1, DMD, LAMA2, POMGNT2, FKTN, SGCA
7lissencephaly30.0FKRP, POMT2, POMT1, FKTN, POMGNT1, DAG1
8palmer pagon syndrome10.5
9brain disease10.5
10retinitis10.5
11muscle eye brain disease10.5
12neuronitis10.5
13cleft lip10.5
14cleft palate10.5
15hydrocephalus10.5
16retinal detachment10.4
17muscular dystrophy-dystroglycanopathy , type a, 710.4
18muscular dystrophy-dystroglycanopathy , type a, 110.4
19norrie disease10.3
20meningocele10.2
21microcephaly10.2
22microphthalmia10.2
23buphthalmos10.2
24cataract10.2
25polyneuropathy10.2
26cerebellar hypoplasia10.2
27microtia10.2
28neuronal migration disorders10.2
29muscular dystrophy-dystroglycanopathy , type a, 310.2
30muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.2
31muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.2
32muscular dystrophy-dystroglycanopathy , type a, 1210.2
33muscular dystrophy-dystroglycanopathy , type a, 410.2
34muscular dystrophy-dystroglycanopathy , type b, 110.2
35muscular dystrophy-dystroglycanopathy , type c, 110.2
36muscular dystrophy-dystroglycanopathy , type a, 1310.2
37muscular dystrophy-dystroglycanopathy , type a, 1010.2
38muscular dystrophy-dystroglycanopathy , type a, 210.2
39muscular dystrophy-dystroglycanopathy , type a, 510.2
40muscular dystrophy-dystroglycanopathy , type a, 610.2
41cranial meningocele10.2
42encephalocele10.1
43encephaloceles10.1
44becker muscular dystrophy10.1DMD
45dmd-associated dilated cardiomyopathy10.1DMD, SGCA
46limb-girdle muscular dystrophy type 2e10.1FKRP, SGCA
47limb-girdle muscular dystrophy, type 2g10.0FKRP, DMD
48muscular dystrophy-dystroglycanopathy , type c, 510.0LAMA2, POMGNT2, FKRP
49limb-girdle muscular dystrophy type 2f10.0FKRP, DMD, SGCA
50emery-dreifuss muscular dystrophy10.0LAMA2, DMD

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



Diseases related to walker-warburg syndrome

Symptoms for Walker-Warburg Syndrome

About this section
Sources:
47OMIM
See all sources


Clinical features from OMIM:

236670,253280

Drugs & Therapeutics for Walker-Warburg Syndrome

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Walker-Warburg Syndrome

Search NIH Clinical Center for Walker-Warburg Syndrome

Genetic Tests for Walker-Warburg Syndrome

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Walker-Warburg Syndrome:

id Genetic test Affiliating Genes
1 Walker-Warburg Syndrome20

Anatomical Context for Walker-Warburg Syndrome

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Walker-Warburg Syndrome:

33
Brain, Eye, Skeletal muscle, Testis

Animal Models for Walker-Warburg Syndrome or affiliated genes

About this section
Sources:
37MGI
See all sources

Publications for Walker-Warburg Syndrome

About this section
Sources:
52PubMed
See all sources

Articles related to Walker-Warburg Syndrome:

(show top 50)    (show all 108)
idTitleAuthorsYear
1
Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. (22790300)
2012
2
Walker-Warburg syndrome. (22691590)
2011
3
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. (19639522)
2009
4
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. (19519795)
2009
5
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. (18640039)
2008
6
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. (17436019)
2007
7
The Walker-Warburg syndrome with cleft lip and palate. (17304384)
2007
8
Walker-Warburg Syndrome. (17070491)
2006
9
Walker-Warburg syndrome. (16887026)
2006
10
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. (16575835)
2006
11
First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome. (16082720)
2005
12
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
13
Difficulties with prenatal diagnosis of the Walker-Warburg syndrome. (16334849)
2005
14
Walker-Warburg syndrome and limb girdle muscular dystrophy; two sides of the same coin. (15792864)
2005
15
Walker-Warburg syndrome: congenital neurodysplasia and bilateral retinal folds. (15185798)
2004
16
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (15121789)
2004
17
A homozygous nonsense mutation in the fukutin gene causes a Walker- Warburg syndrome phenotype. (14627679)
2003
18
Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation. (12757935)
2003
19
Walker-Warburg syndrome variant. (12453509)
2002
20
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. (12369018)
2002
21
Walker-Warburg syndrome: case report and review of the literature. (11316321)
2001
22
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. (11320179)
2001
23
Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. (10738921)
2000
24
A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor? (10914982)
2000
25
A case of Walker-Warburg syndrome. (11102733)
2000
26
Congenital unilateral buphthalmos in Walker-Warburg syndrome: a clinicopathological study. (10707144)
1999
27
Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome. (9845296)
1998
28
Gonadoblastoid testicular dysplasia in Walker-Warburg syndrome. (9688764)
1998
29
Importance of etiologic diagnosis of hydrocephalus as illustrated by a case of Walker Warburg syndrome. (9567537)
1997
30
Pediatric case of the day. Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). (9308119)
1997
31
Three siblings with Walker-Warburg Syndrome. (8780938)
1996
32
Neurosurgical management of Walker-Warburg syndrome. (7773974)
1995
33
Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). (7501167)
1995
34
Walker-Warburg syndrome: report of three affected sibs. (8116667)
1994
35
A case of Walker-Warburg syndrome with uncommon findings. Double cortical layer, temporal cyst and increased serum IgM. (8338213)
1993
36
Muscle involvement in Walker-Warburg syndrome. Clinicopathologic features of four cases. (8249887)
1993
37
Ocular findings in Walker-Warburg syndrome. (8306359)
1993
38
Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. (8214343)
1993
39
Inflammatory myopathy and Walker-Warburg syndrome: etiologic implications. (8221388)
1993
40
Congenital polyneuropathy in Walker-Warburg syndrome. (1565212)
1992
41
Antenatal sonographic features of Walker-Warburg syndrome. Value of endovaginal sonography. (1608094)
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
Cerebro-ocular dysplasia--muscular dystrophy (Walker Warburg) syndrome. Findings in 20-week-old fetus. (1927281)
1991
45
Dandy-Walker malformation, cranial meningocele, ocular abnormalities, and cleft palate: Walker-Warburg syndrome? (1870940)
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

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Walker-Warburg Syndrome:

1
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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 55Reactome, 53QIAGEN, 30KEGG, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Walker-Warburg Syndrome

About this section
Sources:
24HMDB, 29IUPHAR, 45Novoseek, 11DrugBank
See all sources

Compounds related to Walker-Warburg Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Dolichyl phosphate D-mannose2410.3POMT2, POMT1
2dolichol phosphate29 2411.1POMT1, POMT2
3manganese45 2410.8POMT1, POMT2, POMGNT1
4alpha-d-mannoside459.5POMGNT2, POMGNT1
5gdpmannose459.3POMGNT2, ALG1
6creatinine459.3DMD, SGCA, LAMA2, FKRP
7mannose458.9ALG1, POMGNT2, MGAT5B
8n-acetyllactosamine45 249.8B3GNT1, POMGNT2
9heparin45 29 24 1111.6POMGNT2, LAMA2, LAMB2, DMD, DAG1

GO Terms for genes affiliated with Walker-Warburg Syndrome

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Walker-Warburg Syndrome

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet