MCID: WLK001
MIFTS: 59

Walker-Warburg Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Muscle diseases categories

Aliases & Classifications for Walker-Warburg Syndrome

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Walker-Warburg Syndrome, Aliases & Descriptions:

Name: Walker-Warburg Syndrome 9 41 20 21 11 43 47
Hard Syndrome 9 41 21 47
Walker-Warburg Congenital Muscular Dystrophy 21 22 60
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 9 21
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome 41 47
Hydrocephalus - Agyria - Retinal Dysplasia 41 47
Chemke Syndrome 41 21
Cod-Md Syndrome 41 21
 
Wws 41 47
Cerebroocular Dysplasia Muscular Dystrophy Syndrome 41
Hydrocephalus, Agyria, and Retinal Dysplasia 21
Hydrocephalus, Agyria and Retinal Dysplasia 41
Cerebroocular Dysgenesis 41
Hard +/- E Syndrome 41
Warburg Syndrome 41
Pagon Syndrome 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
walker-warburg syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:0050560
Orphanet47 899
MESH via Orphanet34 D058494
ICD10 via Orphanet26 Q04.3

Summaries for Walker-Warburg Syndrome

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NIH Rare Diseases:41 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 and limb-girdle muscular dystrophy, 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 Small cell lung cancer. The compounds Dolichyl phosphate D-mannose and alpha-d-mannoside have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and cerebellum, and related mouse phenotypes are craniofacial and reproductive 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.

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 78)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.0POMT2
2limb-girdle muscular dystrophy30.9FKRP, SGCA, DMD
3mental retardation30.6POMT1, FKTN, DMD, FKRP, POMGNT1
4becker muscular dystrophy30.4DMD
5muscular dystrophy, limb-girdle, type 2b30.2FKRP, SGCA, DMD
6duchenne muscular dystrophy30.1POMGNT2, DAG1, DMD, SGCA, LAMA2, FKTN
7muscle eye brain disease30.1FKRP, DAG1, DMD, LARGE, LAMA2, POMGNT2
8lissencephaly30.1POMGNT1, FKRP, FKTN, POMT1, POMT2, DAG1
9myopathy29.9DMD, FKRP, FKTN, POMT1, POMGNT1, LAMA2
10muscular dystrophy-dystroglycanopathy , type a, 429.6POMGNT1, POMT1, FKTN, POMGNT2, LAMA2, LARGE
11palmer pagon syndrome10.6
12brain disease10.5
13hydrocephalus10.5
14neuronitis10.5
15cleft lip10.5
16retinitis10.5
17muscular dystrophy, congenital10.4LARGE
18muscular dystrophy-dystroglycanopathy , type a, 110.4
19norrie disease10.3
20muscular dystrophy, limb-girdle, type 2e10.3SGCA, FKRP
21breast cancer10.3
22muscular dystrophy-dystroglycanopathy , type a, 310.2
23muscular dystrophy-dystroglycanopathy , type a, 710.2
24muscular dystrophy-dystroglycanopathy , type a, 1210.2
25muscular dystrophy-dystroglycanopathy , type b, 110.2
26muscular dystrophy-dystroglycanopathy , type c, 110.2
27muscular dystrophy-dystroglycanopathy , type a, 1310.2
28muscular dystrophy-dystroglycanopathy , type a, 1010.2
29muscular dystrophy-dystroglycanopathy , type a, 210.2
30muscular dystrophy-dystroglycanopathy , type a, 510.2
31muscular dystrophy-dystroglycanopathy , type a, 610.2
32muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.2
33muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.2
34cataract10.2
35meningocele10.2
36microcephaly10.2
37microphthalmia10.2
38sensorineural hearing loss10.2
39buphthalmos10.2
40persistent hyperplastic primary vitreous10.2
41polyneuropathy10.2
42retinal detachment10.2
43cerebellar hypoplasia10.2
44microtia10.2
45neuronal migration disorders10.2
46congenital hydrocephalus10.2
47dmd-associated dilated cardiomyopathy10.2DMD, SGCA
48autosomal recessive limb-girdle muscular dystrophy type 2i10.2LAMA2, POMGNT2, FKRP
49muscular dystrophy, limb-girdle, type 2f10.2FKRP, SGCA, DMD
50calpainopathy10.2FKRP, DMD, SGCA

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:

 47 (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 amyotrophy 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

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
2 Walker-Warburg Congenital Muscular Dystrophy22

Anatomical Context for Walker-Warburg Syndrome

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MalaCards organs/tissues related to Walker-Warburg Syndrome:

31
Eye, Brain, Cerebellum, Testes, 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 108)
idTitleAuthorsYear
1
Walker-Warburg syndrome: rare congenital muscular dystrophy associated with brain and eye abnormalities. (25488038)
2014
2
Anesthesia for a child with Walker-Warburg syndrome. (24794457)
2014
3
Walker-Warburg syndrome: demonstration of cerebellar cysts with CISS sequence. (22790300)
2012
4
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. (22522421)
2012
5
Walker-Warburg syndrome. (22691590)
2011
6
Walker-Warburg syndrome with persistent hyperplastic primary vitreous detected by prenatal ultrasonography. (20069672)
2010
7
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. (19639522)
2009
8
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. (19519795)
2009
9
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. (18640039)
2008
10
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. (17436019)
2007
11
The Walker-Warburg syndrome with cleft lip and palate. (17304384)
2007
12
Walker-Warburg Syndrome. (17070491)
2006
13
Walker-Warburg syndrome. (16887026)
2006
14
First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome. (16082720)
2005
15
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
16
Difficulties with prenatal diagnosis of the Walker-Warburg syndrome. (16334849)
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
Walker-Warburg syndrome: case report and review of the literature. (11316321)
2001
24
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. (11320179)
2001
25
Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. (10738921)
2000
26
A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor? (10914982)
2000
27
A case of Walker-Warburg syndrome. (11102733)
2000
28
Congenital unilateral buphthalmos in Walker-Warburg syndrome: a clinicopathological study. (10707144)
1999
29
Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome. (9845296)
1998
30
Gonadoblastoid testicular dysplasia in Walker-Warburg syndrome. (9688764)
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
Inflammatory myopathy and Walker-Warburg syndrome: etiologic implications. (8221388)
1993
42
Congenital polyneuropathy in Walker-Warburg syndrome. (1565212)
1992
43
Antenatal sonographic features of Walker-Warburg syndrome. Value of endovaginal sonography. (1608094)
1992
44
Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy. (1518026)
1992
45
The Walker-Warburg syndrome. (1302142)
1992
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:

6 (show all 92)
id Gene Variation Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.1A> G (p.Met1Val)single nucleotide variantPathogenicGRCh38Chr 19, 46755451: 46755451
2POMKNM_032237.4(POMK): c.325C> T (p.Gln109Ter)single nucleotide variantPathogenicGRCh37Chr 8, 42977292: 42977292
3NM_001101426.3(ISPD): c.1120-1G> Tsingle nucleotide variantPathogenicrs397515396GRCh37Chr 7, 16255823: 16255823
4ISPDNM_001101426.3: c.(535_684)+6399_(535_684)+14526deldeletionPathogenicGRCh37Chr 7, 16401191: 16431594
5ISPDNM_001101426.3(ISPD): c.789+2T> Gsingle nucleotide variantPathogenicrs397515397GRCh37Chr 7, 16348146: 16348146
6ISPDNM_001101426.3(ISPD): c.277_279delATT (p.Ile93del)deletionPathogenicrs397515398GRCh37Chr 7, 16445941: 16445943
7ISPDNM_001101426.3(ISPD): c.647C> A (p.Ala216Asp)single nucleotide variantPathogenicrs387907160GRCh37Chr 7, 16415754: 16415754
8ISPDNM_001101426.3(ISPD): c.832A> T (p.Lys278Ter)single nucleotide variantPathogenicrs387907161GRCh37Chr 7, 16341049: 16341049
9ISPDNM_001101426.3(ISPD): c.364G> C (p.Ala122Pro)single nucleotide variantPathogenicrs387907162GRCh37Chr 7, 16445856: 16445856
10ISPDNM_001101426.3(ISPD): c.802C> T (p.Arg268Ter)single nucleotide variantPathogenicrs368593151GRCh37Chr 7, 16341079: 16341079
11POMT2NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter)single nucleotide variantPathogenicrs119463989GRCh37Chr 14, 77745192: 77745192
12POMT2POMT2, IVS8DS, G-A, +1single nucleotide variantPathogenic
13POMT2POMT2, 1-BP DEL, 1261CdeletionPathogenic
14POMT2NM_013382.5(POMT2): c.1238G> C (p.Arg413Pro)single nucleotide variantPathogenicrs190285831GRCh37Chr 14, 77755120: 77755120
15POMT2NM_013382.5(POMT2): c.1117G> T (p.Val373Phe)single nucleotide variantPathogenicrs267606965GRCh37Chr 14, 77757723: 77757723
16POMT2NM_013382.5(POMT2): c.593T> A (p.Ile198Asn)single nucleotide variantPathogenicrs267606972GRCh37Chr 14, 77769241: 77769241
17POMT2POMT2, IVS12AS, G-A, -14single nucleotide variantPathogenic
18POMT2NM_013382.5(POMT2): c.1445G> T (p.Gly482Val)single nucleotide variantPathogenicrs267606968GRCh37Chr 14, 77751863: 77751863
19POMT1NM_007171.3(POMT1): c.226G> A (p.Gly76Arg)single nucleotide variantPathogenicrs28941782GRCh37Chr 9, 134381604: 134381604
20POMT1NM_007171.3(POMT1): c.907C> T (p.Gln303Ter)single nucleotide variantPathogenicrs119462981GRCh37Chr 9, 134385788: 134385788
21POMT1POMT1, 1-BP INS, 2110GinsertionPathogenic
22POMT1POMT1, 3-BP DEL, 1260CCTdeletionPathogenic
23POMT1POMT1, 2-BP DEL, 2179TCdeletionPathogenic
24POMT1POMT1, 1-BP INS, 2111GinsertionPathogenic
25POMT1POMT1, 3-BP DEL, 418ATGdeletionPathogenic
26POMT1POMT1, 1-BP DUP, 2167GduplicationPathogenic
27POMGNT2NM_032806.5(POMGNT2): c.1333C> T (p.Arg445Ter)single nucleotide variantPathogenicrs387907299GRCh37Chr 3, 43121591: 43121591
28POMGNT2NM_032806.5(POMGNT2): c.473G> A (p.Arg158His)single nucleotide variantPathogenicrs387907300GRCh37Chr 3, 43122451: 43122451
29TMEM5NM_014254.2(TMEM5): c.795delG (p.Arg266Glyfs)deletionPathogenicrs397514543GRCh37Chr 12, 64199065: 64199065
30TMEM5NM_014254.2(TMEM5): c.1016A> G (p.Tyr339Cys)single nucleotide variantPathogenicrs150736997GRCh37Chr 12, 64202556: 64202556
31TMEM5NM_014254.2(TMEM5): c.1019_1020delGAinsTT (p.Arg340Leu)indelPathogenicrs397514544GRCh37Chr 12, 64202559: 64202560
32TMEM5NM_014254.2(TMEM5): c.1064_1091del28 (p.Asp355Valfs)deletionPathogenicrs397514545GRCh37Chr 12, 64202604: 64202631
33TMEM5NM_014254.2(TMEM5): c.279delA (p.Gly94Glufs)deletionPathogenicrs397514546GRCh37Chr 12, 64174908: 64174908
34ISPDNM_001101426.3(ISPD): c.638T> G (p.Met213Arg)single nucleotide variantPathogenicrs397515408GRCh37Chr 7, 16415763: 16415763
35ISPDNM_001101426.3(ISPD): c.535-?_933+?deldeletionPathogenicGRCh37Chr 7, 16317753: 16415867
36ISPDNM_001101426.3(ISPD): c.466G> A (p.Asp156Asn)single nucleotide variantPathogenicrs397514547GRCh37Chr 7, 16445754: 16445754
37ISPDNM_001101426.3(ISPD): c.713C> T (p.Thr238Ile)single nucleotide variantPathogenicrs397515409GRCh37Chr 7, 16348224: 16348224
38ISPDNM_001101426.3(ISPD): c.256A> T (p.Arg86Ter)single nucleotide variantPathogenicrs397514548GRCh37Chr 7, 16460692: 16460692
39POMGNT1NM_001243766.1(POMGNT1): c.932G> A (p.Arg311Gln)single nucleotide variantLikely pathogenic, Pathogenicrs193919336GRCh38Chr 1, 46193873: 46193873
40B3GALNT2NM_152490.4(B3GALNT2): c.740G> A (p.Gly247Glu)single nucleotide variantPathogenicrs367543072GRCh37Chr 1, 235634186: 235634186
41B3GALNT2NM_152490.4(B3GALNT2): c.875G> C (p.Arg292Pro)single nucleotide variantPathogenicrs367543076GRCh37Chr 1, 235622061: 235622061
42B3GALNT2NM_152490.4(B3GALNT2): c.308_309delTG (p.Val103Glyfs)deletionPathogenicrs367543070GRCh37Chr 1, 235652525: 235652526
43B3GALNT2NM_152490.4(B3GALNT2): c.755T> G (p.Val252Gly)single nucleotide variantPathogenicrs367543073GRCh37Chr 1, 235634171: 235634171
44B3GALNT2NM_152490.4(B3GALNT2): c.802G> A (p.Val268Met)single nucleotide variantPathogenicrs367543074GRCh37Chr 1, 235628992: 235628992
45B3GALNT2NM_152490.4(B3GALNT2): c.1423C> T (p.Gln475Ter)single nucleotide variantPathogenicrs367543077GRCh37Chr 1, 235613601: 235613601
46FKRPNM_024301.4(FKRP): c.919T> A (p.Tyr307Asn)single nucleotide variantPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626
47FKRPNM_024301.4(FKRP): c.953G> A (p.Cys318Tyr)single nucleotide variantPathogenicrs104894684GRCh37Chr 19, 47259660: 47259660
48TMEM5NM_014254.2(TMEM5): c.1018C> T (p.Arg340Ter)single nucleotide variantPathogenicrs397514695GRCh37Chr 12, 64202558: 64202558
49TMEM5NM_014254.2(TMEM5): c.139delG (p.Ala47Argfs)deletionPathogenicrs397514696GRCh37Chr 12, 64173879: 64173879
50POMKNM_032237.4(POMK): c.410T> G (p.Leu137Arg)single nucleotide variantPathogenicrs397509385GRCh37Chr 8, 42977377: 42977377
51POMKNM_032237.4(POMK): c.773A> G (p.Gln258Arg)single nucleotide variantPathogenicrs397509386GRCh37Chr 8, 42977740: 42977740
52B3GNT1NM_006876.2(B3GNT1): c.1217C> T (p.Ala406Val)single nucleotide variantPathogenicrs397509396GRCh37Chr 11, 66113551: 66113551
53POMGNT1NM_001243766.1(POMGNT1): c.794G> A (p.Arg265His)single nucleotide variantLikely pathogenicrs386834010GRCh37Chr 1, 46660031: 46660031
54POMGNT1NM_001243766.1(POMGNT1): c.1274G> C (p.Trp425Ser)single nucleotide variantLikely pathogenicrs386834011GRCh37Chr 1, 46658200: 46658200
55POMGNT1NM_001243766.1(POMGNT1): c.1285-2A> Gsingle nucleotide variantLikely pathogenicrs386834012GRCh37Chr 1, 46658110: 46658110
56POMGNT1NM_001243766.1(POMGNT1): c.1319T> G (p.Leu440Arg)single nucleotide variantLikely pathogenicrs386834013GRCh37Chr 1, 46658074: 46658074
57POMGNT1NM_001243766.1(POMGNT1): c.1342G> C (p.Gly448Arg)single nucleotide variantLikely pathogenicrs386834014GRCh37Chr 1, 46658051: 46658051
58POMGNT1NM_001243766.1(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs)deletionLikely pathogenicrs386834015GRCh37Chr 1, 46658039: 46658043
59POMGNT1NM_001243766.1(POMGNT1): c.1539+1G> Asingle nucleotide variantLikely pathogenicrs138642840GRCh37Chr 1, 46657769: 46657769
60POMGNT1NM_001243766.1(POMGNT1): c.1539+1G> Tsingle nucleotide variantPathogenicrs138642840GRCh37Chr 1, 46657769: 46657769
61POMGNT1NM_001243766.1(POMGNT1): c.1540-2A> Gsingle nucleotide variantLikely pathogenicrs386834016GRCh37Chr 1, 46656458: 46656458
62POMGNT1NM_001243766.1(POMGNT1): c.1719delC (p.His573Glnfs)deletionLikely pathogenicrs386834017GRCh37Chr 1, 46655592: 46655592
63POMGNT1NM_001243766.1(POMGNT1): c.1738C> T (p.Arg580Ter)single nucleotide variantLikely pathogenicrs386834018GRCh37Chr 1, 46655573: 46655573
64POMGNT1NM_001243766.1(POMGNT1): c.1769G> A (p.Trp590Ter)single nucleotide variantLikely pathogenicrs386834019GRCh37Chr 1, 46655542: 46655542
65POMGNT1NM_001243766.1(POMGNT1): c.1785+2T> Gsingle nucleotide variantLikely pathogenicrs386834020GRCh37Chr 1, 46655524: 46655524
66POMGNT1NM_001243766.1(POMGNT1): c.1814G> A (p.Arg605His)single nucleotide variantLikely pathogenicrs267606962GRCh37Chr 1, 46655211: 46655211
67POMGNT1NM_001243766.1(POMGNT1): c.1864delC (p.Leu622Trpfs)deletionLikely pathogenicrs386834021GRCh37Chr 1, 46655161: 46655161
68POMGNT1NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs)deletionLikely pathogenicrs386834022GRCh37Chr 1, 46655149: 46655149
69POMGNT1NM_001243766.1(POMGNT1): c.1869+27G> Asingle nucleotide variantLikely pathogenicrs386834024GRCh37Chr 1, 46655129: 46655129
70POMGNT1NM_001243766.1(POMGNT1): c.1869+27G> Tsingle nucleotide variantLikely pathogenicrs386834024GRCh37Chr 1, 46655129: 46655129
71POMGNT1NM_017739.3(POMGNT1): c.1895+1_1895+4delGTGAdeletionLikely pathogenicrs386834023GRCh37Chr 1, 46655126: 46655129
72POMGNT1NM_001243766.1(POMGNT1): c.1870-1G> Csingle nucleotide variantLikely pathogenicrs386834025GRCh37Chr 1, 46655030: 46655030
73POMGNT1NM_001243766.1(POMGNT1): c.1902delT (p.Pro635Leufs)deletionLikely pathogenicrs386834026GRCh37Chr 1, 46654997: 46654997
74POMGNT1NM_001243766.1(POMGNT1): c.25dupC (p.Leu9Profs)duplicationLikely pathogenicrs386834027GRCh37Chr 1, 46663468: 46663469
75POMGNT1NM_001243766.1(POMGNT1): c.351delC (p.Thr118Argfs)deletionLikely pathogenicrs386834028GRCh37Chr 1, 46662406: 46662406
76POMGNT1NM_001243766.1(POMGNT1): c.447delT (p.Phe149Leufs)deletionLikely pathogenicrs386834029GRCh37Chr 1, 46661570: 46661570
77POMGNT1NM_001243766.1(POMGNT1): c.526A> C (p.Thr176Pro)single nucleotide variantLikely pathogenicrs386834030GRCh37Chr 1, 46661491: 46661491
78POMGNT1NM_001243766.1(POMGNT1): c.593delG (p.Ser198Thrfs)deletionLikely pathogenicrs386834031GRCh37Chr 1, 46660575: 46660575
79POMGNT1NM_001243766.1(POMGNT1): c.594C> G (p.Ser198Arg)single nucleotide variantLikely pathogenicrs386834032GRCh37Chr 1, 46660574: 46660574
80POMGNT1NM_001243766.1(POMGNT1): c.630G> T (p.Trp210Cys)single nucleotide variantLikely pathogenicrs386834033GRCh37Chr 1, 46660538: 46660538
81POMGNT1NM_001243766.1(POMGNT1): c.643C> T (p.Arg215Ter)single nucleotide variantLikely pathogenicrs386834034GRCh37Chr 1, 46660525: 46660525
82POMGNT1NM_001243766.1(POMGNT1): c.652+1G> Asingle nucleotide variantLikely pathogenicrs386834035GRCh37Chr 1, 46660515: 46660515
83POMGNT1NM_001243766.1(POMGNT1): c.667G> A (p.Glu223Lys)single nucleotide variantLikely pathogenicrs386834036GRCh37Chr 1, 46660309: 46660309
84POMGNT1NM_001243766.1(POMGNT1): c.806G> A (p.Cys269Tyr)single nucleotide variantLikely pathogenicrs386834037GRCh37Chr 1, 46660019: 46660019
85POMGNT1NM_001243766.1(POMGNT1): c.879+5G> Asingle nucleotide variantLikely pathogenicrs386834038GRCh37Chr 1, 46659941: 46659941
86POMGNT1NM_001243766.1(POMGNT1): c.879+5G> Tsingle nucleotide variantLikely pathogenicrs386834038GRCh37Chr 1, 46659941: 46659941
87POMGNT1NM_001243766.1(POMGNT1): c.931C> T (p.Arg311Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386834039GRCh37Chr 1, 46659546: 46659546
88POMGNT1NM_001243766.1(POMGNT1): c.982dupG (p.Val328Glyfs)duplicationLikely pathogenicrs386834040GRCh37Chr 1, 46659279: 46659280
89LARGELARGE, 63-KB DELdeletionPathogenic
90LARGENM_004737.4(LARGE): c.1483T> C (p.Trp495Arg)single nucleotide variantPathogenicrs267607209GRCh37Chr 22, 33700462: 33700462
91LARGELARGE, GLN87FSundetermined variantPathogenic
92LARGENM_004737.4(LARGE): c.992C> T (p.Ser331Phe)single nucleotide variantPathogenicrs267607210GRCh37Chr 22, 33780191: 33780191

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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Compounds for genes affiliated with Walker-Warburg Syndrome

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Sources:
24HMDB, 43Novoseek, 28IUPHAR, 12DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1Dolichyl phosphate D-mannose2410.3POMT2, POMT1
2alpha-d-mannoside4310.2POMGNT2, POMGNT1
3dolichol phosphate28 2411.1POMT1, POMT2
4manganese43 2410.9POMT1, POMT2, POMGNT1
5n-acetyllactosamine43 2410.7B3GNT1, POMGNT2
6gdpmannose439.5POMGNT2, ALG1
7mannose439.1ALG1, POMGNT2, MGAT5B
8creatinine438.6DMD, SGCA, LAMA2, FKRP
9heparin43 28 24 1211.3POMGNT2, 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 Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1integral component of Golgi membraneGO:00301739.9B3GNT1, LARGE
2costamereGO:00430349.4DAG1, DMD
3dystrophin-associated glycoprotein complexGO:00160109.1DMD, FKRP, SGCA, DAG1
4membrane raftGO:00451219.0DAG1, DMD, SGCA
5basement membraneGO:00056048.9LAMA2, LAMB2, DAG1, COL4A1
6endoplasmic reticulum membraneGO:00057898.9POMK, POMGNT2, ALG1, POMT1, POMT2
7extracellular matrixGO:00310128.9COL4A1, LAMB2, LAMA2
8Golgi membraneGO:00001398.7B3GALNT2, MGAT5B, POMGNT1, FKTN, FKRP, B3GNT1
9endoplasmic reticulumGO:00057838.7POMGNT2, POMT1, FKTN, ALG1, B3GALNT2
10sarcolemmaGO:00423838.6DMD, FKRP, LAMA2, SGCA, DAG1
11integral component of membraneGO:00160216.6POMT1, FKTN, FKRP, POMK, B3GALNT2, POMT2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1glycoprotein biosynthetic processGO:000910110.1LARGE, FKRP
2basement membrane organizationGO:00717119.7COL4A1, DAG1
3neuromuscular junction developmentGO:00075289.7COL4A1, LAMB2
4protein O-linked glycosylationGO:00064939.5B3GALNT2, POMT1, POMGNT1, POMK, POMGNT2
5mannosylationGO:00975029.4ALG1, POMT1
6myelination in peripheral nervous systemGO:00220119.2LAMA2, DAG1
7protein glycosylationGO:00064869.0B3GALNT2, B3GNT1, ALG1, LARGE
8axon guidanceGO:00074118.8B3GNT1, COL4A1, LAMA2, LAMB2, ISPD
9muscle organ developmentGO:00075178.8DMD, SGCA, LAMA2, FKTN
10extracellular matrix organizationGO:00301988.2DAG1, DMD, LAMB2, LAMA2, POMT1, COL4A1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:000416910.2POMT1, POMT2
2acetylglucosaminyltransferase activityGO:00083759.8B3GALNT2, POMGNT2, LARGE
3transferase activityGO:00167409.6FKRP, FKTN
4mannosyltransferase activityGO:00000309.5ALG1, POMT1
5dystroglycan bindingGO:00021629.4DAG1, DMD
6structural constituent of muscleGO:00083079.4DMD, DAG1
7vinculin bindingGO:00171669.3DMD, DAG1

Products for genes affiliated with Walker-Warburg Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Walker-Warburg Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet