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:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Walker-Warburg Syndrome:

Name: Walker-Warburg Syndrome 10 45 22 23 47 12 51
Hard Syndrome 10 45 23 51
Walker-Warburg Congenital Muscular Dystrophy 23 24 65
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 10 23
Hard +/- E Syndrome 45 22
Cod-Md Syndrome 45 23
Chemke Syndrome 45 23
Wws 22 51
 
Cerebroocular Dysplasia Muscular Dystrophy Syndrome 45
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome 51
Hydrocephalus, Agyria, and Retinal Dysplasia 23
Hydrocephalus, Agyria and Retinal Dysplasia 45
Cerebroocular Dysgenesis 45
Warburg Syndrome 45
Pagon Syndrome 45

Characteristics:

Orphanet epidemiological data:

51
walker-warburg syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:0050560
Orphanet51 899
ICD10 via Orphanet28 Q04.3
MESH via Orphanet37 D058494
UMLS65 C0265221

Summaries for Walker-Warburg Syndrome

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NIH Rare Diseases:45 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 palmer pagon syndrome and muscular dystrophy-dystroglycanopathy , type a, 1, and has symptoms including hydrocephalus, chorioretinal abnormality and retinal detachment. An important gene associated with Walker-Warburg Syndrome is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways are Other types of O-glycan biosynthesis and Glycosphingolipid biosynthesis - lacto and neolacto series. Affiliated tissues include eye, brain and thyroid, and related mouse phenotypes are vision/eye and craniofacial.

Genetics Home Reference:23 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 76)
idRelated DiseaseScoreTop Affiliating Genes
1palmer pagon syndrome12.0
2muscular dystrophy-dystroglycanopathy , type a, 111.7
3muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1111.6
4muscular dystrophy-dystroglycanopathy , type a, 311.5
5muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 811.5
6muscular dystrophy-dystroglycanopathy , type a, 911.5
7muscular dystrophy-dystroglycanopathy , type a, 711.5
8muscular dystrophy-dystroglycanopathy , type a, 1211.5
9muscular dystrophy-dystroglycanopathy , type a, 411.5
10muscular dystrophy-dystroglycanopathy , type a, 1311.5
11muscular dystrophy-dystroglycanopathy , type a, 1011.5
12muscular dystrophy-dystroglycanopathy , type a, 211.5
13muscular dystrophy-dystroglycanopathy , type a, 511.5
14muscular dystrophy-dystroglycanopathy , type a, 611.5
15muscular dystrophy-dystroglycanopathy , type a, 1411.5
16congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1011.2
17congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1211.2
18congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1311.2
19congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1411.2
20fkrp-related muscle diseases11.2
21aldosterone-producing adenoma with seizures and neurological abnormalities10.6FKRP, FKTN, ISPD, POMT1
22muscular dystrophy10.6
23aicardi-goutieres syndrome 310.6B3GNT2, B4GAT1
24glycogen storage disease 0, muscle10.5FKRP, LAMA2, POMGNT2
25periventricular nodular heterotopia10.5FKRP, FKTN, ISPD, TMEM5
26lmna-related muscle diseases10.5DMD, FKRP, SGCA
27cardiomyopathy, dilated, 1l10.5DMD, FKRP, SGCA
28muscular dystrophy, limb-girdle, type 2b10.5DMD, FKRP, SGCA
29dmd-related dilated cardiomyopathy10.4DMD, SGCA
30autism spectrum disorder-epilepsy-arthrogryposis syndrome10.4FKRP, GMPPB, LARGE, POMT1, POMT2
31sarcoidosis, susceptibility 210.4DAG1, SGCA
32cartilage disease10.4DMD, FKRP, SGCA
33progressive non-fluent aphasia10.4DMD, FKRP, POMT2, SGCA
34cerebral-cerebellar-coloboma syndrome, x-linked10.4DMD, LAMA2
35cardiomyopathy, hypertrophic, 2510.4DMD, FKRP
36hydrocephalus10.3
37retinitis10.3
38muscle eye brain disease10.3
39tooth agenesis10.3B3GALNT2, FKRP, GMPPB, POMT2, TMEM5
40congenital muscular dystrophy without intellectual disability10.3FKRP, GMPPB, POMGNT1, POMK, POMT1, POMT2
41neuronitis10.3
42cleft lip10.3
43fktn-related muscle diseases10.2FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
44muscular dystrophy, congenital, merosin-positive10.2
45muscular dystrophy-dystroglycanopathy , type b, 110.2
46muscular dystrophy-dystroglycanopathy , type c, 110.2
47mast cell disease10.2FKRP, SGCA
48immunodeficiency 34, mycobacteriosis, x-linked10.2DMD, FKRP, FKTN, LAMA2, SGCA
49limb-girdle muscular dystrophy10.2
50myopathy10.2

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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Symptoms:

 51 (show all 36)
  • retinal detachment
  • retinal/chorioretinal dysplasia/dystrophy
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • talipes-valgus
  • dilated cerebral ventricles without hydrocephaly
  • hydrocephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • hypotonia
  • areflexia/hyporeflexia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • muscle weakness/flaccidity
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • autosomal recessive inheritance
  • early death/lethality
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • glaucoma
  • corneal clouding/opacity/vascularisation
  • vitreous anomalies/hyalitis/persistent vitreous vascularisation
  • micropenis/small penis/agenesis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • dandy-walker anomaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • microcephaly
  • coloboma of iris
  • microcornea
  • cataract/lens opacification
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • prominent/bat ears
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • encephalocele/exencephaly
  • seizures/epilepsy/absences/spasms/status epilepticus

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)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 Syndrome22

Anatomical Context for Walker-Warburg Syndrome

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MalaCards organs/tissues related to Walker-Warburg Syndrome:

33
Eye, Brain, Thyroid, Skeletal muscle, Cerebellum, Testes, Heart

Animal Models for Walker-Warburg Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Walker-Warburg Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.6COL4A1, DAG1, DMD, FKRP, LAMB2, LARGE
2MP:00053829.4B3GNT2, FKRP, LAMA2, LARGE, POMGNT1, POMK
3MP:00053698.7B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
4MP:00053768.6COL4A1, DAG1, DMD, FKRP, FKTN, LAMA2
5MP:00053868.5B3GNT2, B4GAT1, COL4A1, DAG1, DMD, FKRP
6MP:00053878.5B3GNT2, B4GAT1, DMD, FKRP, FKTN, LAMA2
7MP:00053848.1B3GNT2, B4GAT1, COL4A1, DAG1, DMD, FKRP
8MP:00036318.0B3GNT2, B4GAT1, COL4A1, DAG1, DMD, FKRP
9MP:00107688.0B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
10MP:00053787.8B3GNT2, 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 119)
idTitleAuthorsYear
1
Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome. (26265907)
2015
2
Perioperative considerations in Walker-Warburg syndrome. (26401279)
2015
3
Prenatal imaging diagnosis of cobblestone lissencephaly associated with Walker Warburg syndrome based on a specific sonographic pattern. (26315758)
2015
4
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. (26495167)
2015
5
Absence of I+- and I^-dystroglycan is associated with Walker-Warburg syndrome. (25934851)
2015
6
Walker-Warburg syndrome: rare congenital muscular dystrophy associated with brain and eye abnormalities. (25488038)
2014
7
Anesthesia for a child with Walker-Warburg syndrome. (24794457)
2014
8
Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. (22790300)
2012
9
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. (22522421)
2012
10
Walker-Warburg syndrome. (22691590)
2011
11
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. (20069672)
2010
12
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. (19639522)
2009
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
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
Walker-Warburg Syndrome. (17070491)
2006
18
First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome. (16082720)
2005
19
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
20
Difficulties with prenatal diagnosis of the Walker-Warburg syndrome. (16334849)
2005
21
Walker-Warburg syndrome: congenital neurodysplasia and bilateral retinal folds. (15185798)
2004
22
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (15121789)
2004
23
A homozygous nonsense mutation in the fukutin gene causes a Walker- Warburg syndrome phenotype. (14627679)
2003
24
Walker-Warburg syndrome variant. (12453509)
2002
25
Walker-Warburg syndrome: case report and review of the literature. (11316321)
2001
26
Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. (10738921)
2000
27
A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor? (10914982)
2000
28
A case of Walker-Warburg syndrome. (11102733)
2000
29
Congenital unilateral buphthalmos in Walker-Warburg syndrome: a clinicopathological study. (10707144)
1999
30
Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome. (9845296)
1998
31
Importance of etiologic diagnosis of hydrocephalus as illustrated by a case of Walker Warburg syndrome. (9567537)
1997
32
Pediatric case of the day. Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). (9308119)
1997
33
Three siblings with Walker-Warburg Syndrome. (8780938)
1996
34
Neurosurgical management of Walker-Warburg syndrome. (7773974)
1995
35
Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). (7501167)
1995
36
Walker-Warburg syndrome: report of three affected sibs. (8116667)
1994
37
A case of Walker-Warburg syndrome with uncommon findings. Double cortical layer, temporal cyst and increased serum IgM. (8338213)
1993
38
Muscle involvement in Walker-Warburg syndrome. Clinicopathologic features of four cases. (8249887)
1993
39
Ocular findings in Walker-Warburg syndrome. (8306359)
1993
40
Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome. (8214343)
1993
41
Congenital polyneuropathy in Walker-Warburg syndrome. (1565212)
1992
42
Antenatal sonographic features of Walker-Warburg syndrome. Value of endovaginal sonography. (1608094)
1992
43
Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy. (1518026)
1992
44
The Walker-Warburg syndrome. (1302142)
1992
45
Cerebro-ocular dysplasia--muscular dystrophy (Walker Warburg) syndrome. Findings in 20-week-old fetus. (1927281)
1991
46
Dandy-Walker malformation, cranial meningocele, ocular abnormalities, and cleft palate: Walker-Warburg syndrome? (1870940)
1991
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1POMT1NM_007171.3(POMT1): c.1540C> T (p.Arg514Ter)single nucleotide variantPathogenicrs119462985GRCh37Chr 9, 134394332: 134394332
2POMT1NM_007171.3(POMT1): c.1770G> C (p.Gln590His)single nucleotide variantPathogenicrs119462986GRCh37Chr 9, 134396738: 134396738

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
1dystrophin-associated glycoprotein complexGO:001601010.3DMD, FKRP, SGCA
2Golgi membraneGO:00001399.9FKRP, FKTN, LARGE, TMEM5

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

idNameGO IDScoreTop Affiliating Genes
1regulation of endoplasmic reticulum unfolded protein responseGO:190010110.7POMT1, POMT2
2protein O-linked mannosylationGO:003526910.4LARGE, POMT1, POMT2
3keratan sulfate metabolic processGO:004233910.0B3GNT2, B4GAT1
4protein O-linked glycosylationGO:00064939.9LARGE, POMK, POMT2
5extracellular matrix organizationGO:00301989.8DAG1, DMD, LAMB2
6protein glycosylationGO:00064869.8B3GNT2, B4GAT1, ISPD, LARGE

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

idNameGO IDScoreTop Affiliating Genes
1vinculin bindingGO:001716610.1DAG1, DMD

Sources for Walker-Warburg Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet