MCID: WLK001
MIFTS: 55

Walker-Warburg Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Muscle diseases

Aliases & Classifications for Walker-Warburg Syndrome

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Walker-Warburg Syndrome:

Name: Walker-Warburg Syndrome 11 46 23 24 13 52 25 48
Hard Syndrome 11 46 24 52
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 11 24
Walker-Warburg Congenital Muscular Dystrophy 24 66
Hard +/- E Syndrome 46 23
Chemke Syndrome 46 24
Cod-Md Syndrome 46 24
Wws 23 52
 
Cerebroocular Dysplasia Muscular Dystrophy Syndrome 46
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome 52
Hydrocephalus, Agyria, and Retinal Dysplasia 24
Hydrocephalus, Agyria and Retinal Dysplasia 46
Cerebroocular Dysgenesis 46
Warburg Syndrome 46
Pagon Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
walker-warburg syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:0050560
Orphanet52 ORPHA899
ICD10 via Orphanet29 Q04.3
MESH via Orphanet38 D058494

Summaries for Walker-Warburg Syndrome

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NIH Rare Diseases:46 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 muscular dystrophy-dystroglycanopathy , type b, 1 and palmer pagon syndrome, and has symptoms including hydrocephalus, chorioretinal abnormality and retinal detachment. An important gene associated with Walker-Warburg Syndrome is FKTN (Fukutin), and among its related pathways are Other types of O-glycan biosynthesis and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include eye, brain and skeletal muscle, and related mouse phenotypes are vision/eye and muscle.

Genetics Home Reference:24 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.

Related Diseases for Walker-Warburg Syndrome

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Diseases related to Walker-Warburg Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type b, 131.2FKRP, FKTN, POMT1
2palmer pagon syndrome12.0
3muscular dystrophy-dystroglycanopathy , type a, 111.7
4muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1111.6
5muscular dystrophy-dystroglycanopathy , type a, 311.5
6muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 811.5
7muscular dystrophy-dystroglycanopathy , type a, 911.5
8muscular dystrophy-dystroglycanopathy , type a, 711.5
9muscular dystrophy-dystroglycanopathy , type a, 1211.5
10muscular dystrophy-dystroglycanopathy , type a, 411.5
11muscular dystrophy-dystroglycanopathy , type a, 1311.5
12muscular dystrophy-dystroglycanopathy , type a, 1011.5
13muscular dystrophy-dystroglycanopathy , type a, 211.5
14muscular dystrophy-dystroglycanopathy , type a, 511.5
15muscular dystrophy-dystroglycanopathy , type a, 611.5
16muscular dystrophy-dystroglycanopathy , type a, 1411.5
17intellectual disability-developmental delay-contractures syndrome11.3
18congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1011.2
19congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1211.2
20congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1311.2
21congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1411.2
22fkrp-related muscle diseases11.2
23muscular dystrophy10.6
24intellectual disability-facial dysmorphism-hand anomalies syndrome10.6FKRP, FKTN, ISPD, POMT1
25hydrocephalus10.4
26cubitus valgus with mental retardation and unusual facies10.4DMD, LAMA2
27schindler disease10.4DAG1, DMD, SGCA
28finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome10.4FKRP, GMPPB, LARGE1, POMT1, POMT2
29retinitis10.3
30muscle eye brain disease10.3
31proliferating trichilemmal cyst10.3DMD, FKRP, POMT2, SGCA
32gastric antral vascular ectasia10.3FKTN, POMGNT1, POMT1
33neuronitis10.3
34cleft lip10.3
35hyperphosphatemia10.3DAG1, FKRP, FKTN, ISPD, TMEM5
36intellectual disability-seizures-macrocephaly-obesity syndrome10.2FKRP, GMPPB, POMGNT1, POMK, POMT1, POMT2
37muscular dystrophy, congenital, merosin-positive10.2
38muscular dystrophy-dystroglycanopathy , type c, 110.2
39asphyxiating thoracic dystrophy10.2B3GALNT2, FKRP, GMPPB, POMT2, TMEM5
40limb-girdle muscular dystrophy10.2
41myopathy10.2
42retinal detachment10.2
43congenital hydrocephalus10.2
44thrombocytopenia, x-linked10.1DMD, FKRP, FKTN, LAMA2, SGCA
45chronic granulomatous disease, x-linked10.1DMD, SGCA
46muscular dystrophy-dystroglycanopathy , type b, 410.1DMD, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
47immunodeficiency 34, mycobacteriosis, x-linked10.1DAG1, DMD, LAMA2, SGCA
48duchenne muscular dystrophy10.0
49cataract10.0
50lissencephaly10.0

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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HPO human phenotypes related to Walker-Warburg Syndrome:

(show all 32)
id Description Frequency HPO Source Accession
1 hydrocephalus hallmark (90%) HP:0000238
2 chorioretinal abnormality hallmark (90%) HP:0000532
3 retinal detachment hallmark (90%) HP:0000541
4 optic atrophy hallmark (90%) HP:0000648
5 muscular hypotonia hallmark (90%) HP:0001252
6 reduced tendon reflexes hallmark (90%) HP:0001315
7 muscle weakness hallmark (90%) HP:0001324
8 talipes hallmark (90%) HP:0001883
9 abnormality of neuronal migration hallmark (90%) HP:0002269
10 skeletal muscle atrophy hallmark (90%) HP:0003202
11 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
12 cognitive impairment hallmark (90%) HP:0100543
13 cryptorchidism typical (50%) HP:0000028
14 macrocephaly typical (50%) HP:0000256
15 glaucoma typical (50%) HP:0000501
16 dandy-walker malformation typical (50%) HP:0001305
17 abnormality of the vitreous humor typical (50%) HP:0004327
18 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
19 opacification of the corneal stroma typical (50%) HP:0007759
20 aplasia/hypoplasia affecting the eye typical (50%) HP:0008056
21 hypoplasia of penis typical (50%) HP:0008736
22 cleft palate occasional (7.5%) HP:0000175
23 microcephaly occasional (7.5%) HP:0000252
24 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
25 abnormality of the pinna occasional (7.5%) HP:0000377
26 microcornea occasional (7.5%) HP:0000482
27 cataract occasional (7.5%) HP:0000518
28 iris coloboma occasional (7.5%) HP:0000612
29 seizures occasional (7.5%) HP:0001250
30 encephalocele occasional (7.5%) HP:0002084
31 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
32 non-midline cleft lip occasional (7.5%) HP:0100335

UMLS symptoms related to Walker-Warburg Syndrome:


seizures

Drugs & Therapeutics for Walker-Warburg Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
2MRI on Persons With Mutations in POMT2 Gene (LGMD2N)Active, not recruitingNCT02759302

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 Syndrome25 23

Anatomical Context for Walker-Warburg Syndrome

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MalaCards organs/tissues related to Walker-Warburg Syndrome:

34
Eye, Brain, Skeletal muscle, Cerebellum, Testis

Animal Models for Walker-Warburg Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Walker-Warburg Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.3COL4A1, DAG1, DMD, FKRP, LAMB2, LARGE1
2MP:00053698.9B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
3MP:00053848.6B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
4MP:00053768.5COL4A1, DAG1, DMD, FKRP, FKTN, LAMA2
5MP:00053788.3COL4A1, DAG1, DMD, FKRP, FKTN, LAMA2
6MP:00053868.3B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
7MP:00107688.2B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
8MP:00036318.1B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN

Publications for Walker-Warburg Syndrome

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Articles related to Walker-Warburg Syndrome:

(show top 50)    (show all 120)
idTitleAuthorsYear
1
Perioperative considerations in Walker-Warburg syndrome. (26401279)
2015
2
Prenatal imaging diagnosis of cobblestone lissencephaly associated with Walker Warburg syndrome based on a specific sonographic pattern. (26315758)
2015
3
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. (26495167)
2015
4
Absence of I+- and I^-dystroglycan is associated with Walker-Warburg syndrome. (25934851)
2015
5
ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome. (26087224)
2015
6
Cochlear malformation and sensorineural hearing loss in the Walker-Warburg Syndrome. (25592765)
2015
7
Walker-Warburg syndrome: rare congenital muscular dystrophy associated with brain and eye abnormalities. (25488038)
2014
8
Anesthesia for a child with Walker-Warburg syndrome. (24794457)
2014
9
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. (24120487)
2013
10
Walker-Warburg syndrome. (22691590)
2011
11
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. (20069672)
2010
12
A case study on Walker-Warburg syndrome. (20150777)
2010
13
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. (19519795)
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
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. (17436019)
2007
17
The Walker-Warburg syndrome with cleft lip and palate. (17304384)
2007
18
Walker-Warburg Syndrome. (17070491)
2006
19
Walker-Warburg syndrome. (16887026)
2006
20
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. (16575835)
2006
21
Walker-Warburg syndrome and limb girdle muscular dystrophy; two sides of the same coin. (15792864)
2005
22
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. (15894594)
2005
23
Glyc-O-genetics of Walker-Warburg syndrome. (15733261)
2005
24
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality. (15383666)
2004
25
A homozygous nonsense mutation in the fukutin gene causes a Walker- Warburg syndrome phenotype. (14627679)
2003
26
Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome. (12788039)
2003
27
Anaesthesia for a child with Walker-Warburg syndrome. (12950865)
2003
28
Walker-Warburg syndrome: case report and review of the literature. (11316321)
2001
29
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. (11320179)
2001
30
Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. (10738921)
2000
31
Walker-Warburg syndrome. Report of two cases. (10667295)
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
Special imaging casebook. Walker-Warburg syndrome. (9210086)
1997
35
Neurosurgical management of Walker-Warburg syndrome. (7773974)
1995
36
Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). (7501167)
1995
37
Muscle-eye-brain disease and Walker-Warburg syndrome: phenotype-genotype speculations. Commentary to Pihko's paper (pp. 57-61) (7762766)
1995
38
Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. (7604843)
1995
39
A case of Walker-Warburg syndrome with uncommon findings. Double cortical layer, temporal cyst and increased serum IgM. (8338213)
1993
40
Muscle involvement in Walker-Warburg syndrome. Clinicopathologic features of four cases. (8249887)
1993
41
Ocular findings in Walker-Warburg syndrome. (8306359)
1993
42
Inflammatory myopathy and Walker-Warburg syndrome: etiologic implications. (8221388)
1993
43
Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy. (1518026)
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
Muscle-eye-brain disease and Walker-Warburg syndrome. (2363444)
1990
47
Walker-Warburg syndrome. Case report and literature review. (2377348)
1990
48
Walker-Warburg syndrome in a Japanese patient. (3072008)
1988
49
Walker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome). (3088278)
1986
50
Walker-Warburg syndrome. (4010954)
1985

Variations for Walker-Warburg Syndrome

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Clinvar genetic disease variations for Walker-Warburg Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.826C> A (p.Leu276Ile)single nucleotide variantPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533
2FKTNNM_001079802.1(FKTN): c.607C> T (p.Arg203Ter)single nucleotide variantPathogenicrs746763506GRCh38Chr 9, 105604452: 105604452
3FKRPNM_024301.4(FKRP): c.826C> A (p.Leu276Ile)single nucleotide variantPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533

Copy number variations for Walker-Warburg Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12471879129300000134900000Copy numberPOMT1Walker-Warburg syndrome

Expression for genes affiliated with Walker-Warburg Syndrome

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

Pathways for genes affiliated with Walker-Warburg Syndrome

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GO Terms for genes affiliated with Walker-Warburg Syndrome

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Cellular components related to Walker-Warburg Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dolichyl-phosphate-mannose-protein mannosyltransferase complexGO:003150210.9POMT1, POMT2
2dystroglycan complexGO:001601110.6DAG1, SGCA
3costamereGO:004303410.5DAG1, DMD
4basal laminaGO:000560510.4LAMA2, LAMB2
5basement membraneGO:000560410.2COL4A1, DAG1, LAMA2, LAMB2
6dystrophin-associated glycoprotein complexGO:001601010.1DAG1, DMD, FKRP, SGCA
7sarcolemmaGO:00423839.9DAG1, DMD, FKRP, LAMA2, SGCA
8Golgi membraneGO:00001399.4B3GALNT2, B4GAT1, FKRP, FKTN, LARGE1, MGAT4C
9integral component of membraneGO:00160218.6B3GALNT2, DAG1, FKRP, FKTN, MGAT4C, POMGNT1

Biological processes related to Walker-Warburg Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1chain elongation of O-linked mannose residueGO:004484510.8POMT1, POMT2
2cell wall mannoprotein biosynthetic processGO:000003210.8POMT1, POMT2
3regulation of endoplasmic reticulum unfolded protein responseGO:190010110.8POMT1, POMT2
4glycoprotein biosynthetic processGO:000910110.7FKRP, LARGE1
5basement membrane organizationGO:007171110.5COL4A1, DAG1
6myelination in peripheral nervous systemGO:002201110.4DAG1, LAMA2
7Schwann cell developmentGO:001404410.4DAG1, LAMB2
8muscle cell cellular homeostasisGO:004671610.3DMD, LARGE1
9protein glycosylationGO:000648610.2B3GALNT2, B4GAT1, LARGE1
10muscle organ developmentGO:00075179.9DMD, FKTN, LAMA2, SGCA
11extracellular matrix organizationGO:00301989.7COL4A1, DAG1, LAMA2, LAMB2, POMT1
12axon guidanceGO:00074119.7B4GAT1, ISPD, LAMA2, LAMB2
13protein O-linked glycosylationGO:00064939.5B3GALNT2, DAG1, LARGE1, POMGNT1, POMGNT2, POMK
14protein O-linked mannosylationGO:00352699.0B4GAT1, FKRP, FKTN, ISPD, LARGE1, POMGNT2

Molecular functions related to Walker-Warburg Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:001674010.4FKRP, FKTN
2acetylglucosaminyltransferase activityGO:000837510.2B3GALNT2, LARGE1, POMGNT2
3dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:000416910.2POMT1, POMT2
4glucuronosyltransferase activityGO:001502010.1B4GAT1, LARGE1
5vinculin bindingGO:001716610.0DAG1, DMD
6dystroglycan bindingGO:00021629.8DAG1, DMD

Sources for Walker-Warburg Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet