MCID: WLK001
MIFTS: 57

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:
10Disease Ontology, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet
See all 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
Chemke Syndrome 45 23
Cod-Md 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
Hydrocephalus - Agyria - Retinal Dysplasia 51
Cerebroocular Dysgenesis 45
Warburg Syndrome 45
Pagon Syndrome 45


Classifications:



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


External Ids:

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

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 muscular dystrophy and muscular dystrophy-dystroglycanopathy , type a, 4, and has symptoms including hydrocephalus, chorioretinal abnormality and retinal detachment. An important gene associated with Walker-Warburg Syndrome is LARGE (Like-Glycosyltransferase), 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 craniofacial and other.

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 103)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.4DMD, FKRP, FKTN, POMT1, POMT2, SGCA
2muscular dystrophy-dystroglycanopathy , type a, 430.9DMD, FKTN, LAMA2, LARGE, POMGNT1, POMT1
3becker muscular dystrophy30.1DAG1, DMD, LAMA2, SGCA
4palmer pagon syndrome10.6
5muscular dystrophy-dystroglycanopathy , type a, 110.6
6muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.6
7hydrocephalus10.6
8retinitis10.6
9muscle eye brain disease10.6
10muscular dystrophy-dystroglycanopathy , type a, 310.5
11muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.5
12muscular dystrophy-dystroglycanopathy , type a, 910.5
13muscular dystrophy-dystroglycanopathy , type a, 710.5
14muscular dystrophy-dystroglycanopathy , type a, 1210.5
15muscular dystrophy-dystroglycanopathy , type a, 1310.5
16muscular dystrophy-dystroglycanopathy , type a, 1010.5
17muscular dystrophy-dystroglycanopathy , type a, 210.5
18muscular dystrophy-dystroglycanopathy , type a, 510.5
19muscular dystrophy-dystroglycanopathy , type a, 610.5
20cleft lip10.5
21neuronitis10.5
22muscular dystrophy-dystroglycanopathy , type a, 1410.4
23limb-girdle muscular dystrophy10.4
24myopathy10.4
25retinal detachment10.4
26congenital hydrocephalus10.4
27norrie disease10.3
28breast cancer10.3
29autism spectrum disorder-epilepsy-arthrogryposis syndrome10.3FKRP, FKTN, ISPD, POMT1
30muscular dystrophy, congenital, merosin-positive10.3
31muscular dystrophy-dystroglycanopathy , type b, 110.3
32muscular dystrophy-dystroglycanopathy , type c, 110.3
33duchenne muscular dystrophy10.3
34cataract10.3
35meningocele10.3
36lissencephaly10.3
37buphthalmos10.3
38sensorineural hearing loss10.3
39microphthalmia10.3
40microcephaly10.3
41persistent hyperplastic primary vitreous10.3
42polyneuropathy10.3
43cerebellar hypoplasia10.3
44cobblestone lissencephaly10.3
45congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1010.3
46congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1210.3
47congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1310.3
48congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1410.3
49fkrp-related muscle diseases10.3
50microtia10.3

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

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

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
2 Walker-Warburg Congenital Muscular Dystrophy24

Anatomical Context for Walker-Warburg Syndrome

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MalaCards organs/tissues related to Walker-Warburg Syndrome:

33
Eye, Brain, Skeletal muscle, Testes, Cerebellum, Testis

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:00053829.9DAG1, FKRP, LAMA2, LARGE, POMGNT1, POMK
2MP:00053959.4B4GAT1, COL4A1, DAG1, FKTN, ISPD, LAMA2
3MP:00053919.4COL4A1, DAG1, DMD, FKRP, LAMB2, LARGE
4MP:00053848.9B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
5MP:00053698.9B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
6MP:00053788.8COL4A1, DAG1, DMD, FKRP, FKTN, LAMA2
7MP:00107688.5B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
8MP:00036318.3B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
9MP:00053868.3B4GAT1, 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 (show all 106)
id Gene Variation Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs587777223GRCh38Chr 19, 46755451: 46755451
2POMKNM_032237.4(POMK): c.288delT (p.Leu97Cysfs)deletionPathogenicrs606231306GRCh38Chr 8, 43122112: 43122112
3POMKNM_032237.4(POMK): c.905T> A (p.Val302Asp)single nucleotide variantPathogenicrs199756983GRCh38Chr 8, 43122729: 43122729
4B4GAT1NM_006876.2(B4GAT1): c.821_822insTT (p.Glu274Aspfs)insertionLikely pathogenicrs730882237GRCh37Chr 11, 66114195: 66114196
5NM_017739.3(POMGNT1): c.1011dupT (p.Asp338Terfs)duplicationLikely pathogenicrs751254522GRCh37Chr 1, 46659251: 46659251
6FKTNNM_001079802.1(FKTN): c.*4375_*4376ins3062insertionPathogenicGRCh37Chr 9, 108401920: 108401921
7POMT1NM_007171.3(POMT1): c.1864C> T (p.Arg622Ter)single nucleotide variantPathogenicrs794727208GRCh37Chr 9, 134396832: 134396832
8POMT1NM_007171.3(POMT1): c.1958C> T (p.Pro653Leu)single nucleotide variantPathogenicrs149682171GRCh38Chr 9, 131522113: 131522113
9POMT1NM_007171.3(POMT1): c.2070-1G> Csingle nucleotide variantPathogenicrs745738628GRCh37Chr 9, 134398318: 134398318
10DAG1NM_001165928.3(DAG1): c.2006G> T (p.Cys669Phe)single nucleotide variantPathogenicrs797045023GRCh37Chr 3, 49569950: 49569950
11DAG1DAG1, 1-BP DEL, 743CdeletionPathogenic
12POMT1NM_001077365.1(POMT1): c.558G> A (p.Trp186Ter)single nucleotide variantLikely pathogenicrs772370177GRCh37Chr 9, 134385148: 134385148
13B3GALNT2NM_152490.4(B3GALNT2): c.1438_1455dup18 (p.Trp485_Lys486insGluLeuThrGluLeuTrp)duplicationLikely pathogenicGRCh37Chr 1, 235613569: 235613586
14NM_001101426.3(ISPD): c.1120-1G> Tsingle nucleotide variantPathogenicrs397515396GRCh37Chr 7, 16255823: 16255823
15ISPDNM_001101426.3(ISPD): c.(535_684)+6399_(535_684)+14526deldeletionPathogenicGRCh37Chr 7, 16401191: 16431594
16ISPDNM_001101426.3(ISPD): c.789+2T> Gsingle nucleotide variantPathogenicrs397515397GRCh37Chr 7, 16348146: 16348146
17ISPDNM_001101426.3(ISPD): c.277_279delATT (p.Ile93del)deletionPathogenicrs397515398GRCh37Chr 7, 16445941: 16445943
18ISPDNM_001101426.3(ISPD): c.647C> A (p.Ala216Asp)single nucleotide variantPathogenicrs387907160GRCh37Chr 7, 16415754: 16415754
19ISPDNM_001101426.3(ISPD): c.832A> T (p.Lys278Ter)single nucleotide variantPathogenicrs387907161GRCh37Chr 7, 16341049: 16341049
20ISPDNM_001101426.3(ISPD): c.364G> C (p.Ala122Pro)single nucleotide variantPathogenicrs387907162GRCh37Chr 7, 16445856: 16445856
21ISPDNM_001101426.3(ISPD): c.802C> T (p.Arg268Ter)single nucleotide variantPathogenicrs368593151GRCh37Chr 7, 16341079: 16341079
22FKTNNM_001079802.1(FKTN): c.919C> T (p.Arg307Ter)single nucleotide variantLikely pathogenic, Pathogenicrs267606814GRCh37Chr 9, 108380248: 108380248
23POMT2NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter)single nucleotide variantPathogenicrs119463989GRCh37Chr 14, 77745192: 77745192
24POMT2NM_013382.5(POMT2): c.1006+1G> Asingle nucleotide variantPathogenicrs533916138GRCh37Chr 14, 77765031: 77765031
25POMT2NM_013382.5(POMT2): c.1261delC (p.Arg421Glyfs)deletionPathogenicrs587777815GRCh38Chr 14, 77286815: 77286815
26POMT2NM_013382.5(POMT2): c.1117G> T (p.Val373Phe)single nucleotide variantPathogenicrs267606965GRCh37Chr 14, 77757723: 77757723
27POMT2NM_013382.5(POMT2): c.593T> A (p.Ile198Asn)single nucleotide variantPathogenicrs267606972GRCh37Chr 14, 77769241: 77769241
28POMT2POMT2, IVS12AS, G-A, -14single nucleotide variantPathogenic
29POMT2NM_013382.5(POMT2): c.1445G> T (p.Gly482Val)single nucleotide variantPathogenicrs267606968GRCh37Chr 14, 77751863: 77751863
30POMT1NM_007171.3(POMT1): c.226G> A (p.Gly76Arg)single nucleotide variantPathogenicrs28941782GRCh37Chr 9, 134381604: 134381604
31POMT1NM_007171.3(POMT1): c.907C> T (p.Gln303Ter)single nucleotide variantPathogenicrs119462981GRCh37Chr 9, 134385788: 134385788
32POMT1NM_007171.3(POMT1): c.2110dupG (p.Ala704Glyfs)duplicationPathogenicrs587777817GRCh38Chr 9, 131522972: 131522972
33POMT1NM_007171.3(POMT1): c.1260_1262delCCT (p.Leu421del)deletionPathogenicrs587777818GRCh38Chr 9, 131515444: 131515446
34POMT1NM_007171.3(POMT1): c.598G> C (p.Ala200Pro)single nucleotide variantPathogenicrs119462982GRCh37Chr 9, 134385188: 134385188
35POMT1NM_007171.3(POMT1): c.1540C> T (p.Arg514Ter)single nucleotide variantPathogenicrs119462985GRCh37Chr 9, 134394332: 134394332
36POMT1NM_007171.3(POMT1): c.1770G> C (p.Gln590His)single nucleotide variantPathogenicrs119462986GRCh37Chr 9, 134396738: 134396738
37POMT1NM_007171.3(POMT1): c.2179_2180delTC (p.Ser727Alafs)deletionPathogenicrs587777819GRCh37Chr 9, 134398428: 134398429
38POMT1NM_007171.3(POMT1): c.418_420delATG (p.Met140del)deletionPathogenicrs587777820GRCh38Chr 9, 131507505: 131507507
39POMT1NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs)duplicationPathogenicrs398124245GRCh37Chr 9, 134398416: 134398416
40POMGNT2NM_032806.5(POMGNT2): c.1333C> T (p.Arg445Ter)single nucleotide variantPathogenicrs387907299GRCh37Chr 3, 43121591: 43121591
41POMGNT2NM_032806.5(POMGNT2): c.473G> A (p.Arg158His)single nucleotide variantLikely pathogenic, Pathogenicrs387907300GRCh37Chr 3, 43122451: 43122451
42TMEM5NM_014254.2(TMEM5): c.795delG (p.Arg266Glyfs)deletionPathogenicrs397514543GRCh37Chr 12, 64199065: 64199065
43TMEM5NM_014254.2(TMEM5): c.1016A> G (p.Tyr339Cys)single nucleotide variantPathogenicrs150736997GRCh37Chr 12, 64202556: 64202556
44TMEM5NM_014254.2(TMEM5): c.1019_1020delGAinsTT (p.Arg340Leu)indelPathogenicrs397514544GRCh37Chr 12, 64202559: 64202560
45NM_014254.2(TMEM5): c.1064_1091del28 (p.Asp355Valfs)deletionPathogenicrs397514545GRCh37Chr 12, 64202604: 64202631
46TMEM5NM_014254.2(TMEM5): c.279delA (p.Gly94Glufs)deletionPathogenicrs397514546GRCh37Chr 12, 64174908: 64174908
47ISPDNM_001101426.3(ISPD): c.638T> G (p.Met213Arg)single nucleotide variantPathogenicrs397515408GRCh37Chr 7, 16415763: 16415763
48ISPDNM_001101426.3(ISPD): c.535-?_933+?deldeletionPathogenicGRCh37Chr 7, 16317753: 16415867
49ISPDNM_001101426.3(ISPD): c.466G> A (p.Asp156Asn)single nucleotide variantPathogenicrs397514547GRCh37Chr 7, 16445754: 16445754
50ISPDNM_001101426.3(ISPD): c.713C> T (p.Thr238Ile)single nucleotide variantPathogenicrs397515409GRCh37Chr 7, 16348224: 16348224
51ISPDNM_001101426.3(ISPD): c.256A> T (p.Arg86Ter)single nucleotide variantPathogenicrs397514548GRCh37Chr 7, 16460692: 16460692
52NM_017739.3(POMGNT1): c.1649G> A (p.Ser550Asn)single nucleotide variantLikely pathogenic, Pathogenicrs193919335GRCh37Chr 1, 46656145: 46656145
53NM_017739.3(POMGNT1): c.1719delC (p.His573Glnfs)deletionLikely pathogenic, Pathogenicrs386834017GRCh38Chr 1, 46189920: 46189920
54NM_001243766.1(POMGNT1): c.932G> A (p.Arg311Gln)single nucleotide variantLikely pathogenic, Pathogenicrs193919336GRCh38Chr 1, 46193873: 46193873
55NM_017739.3(POMGNT1): c.652+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs386834035GRCh38Chr 1, 46194843: 46194843
56FKRPNM_024301.4(FKRP): c.235G> A (p.Val79Met)single nucleotide variantPathogenicrs104894683GRCh37Chr 19, 47258942: 47258942
57FKRPNM_024301.4(FKRP): c.919T> A (p.Tyr307Asn)single nucleotide variantPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626
58FKRPNM_024301.4(FKRP): c.953G> A (p.Cys318Tyr)single nucleotide variantPathogenicrs104894684GRCh37Chr 19, 47259660: 47259660
59TMEM5NM_014254.2(TMEM5): c.1018C> T (p.Arg340Ter)single nucleotide variantPathogenicrs397514695GRCh37Chr 12, 64202558: 64202558
60TMEM5NM_014254.2(TMEM5): c.139delG (p.Ala47Argfs)deletionPathogenicrs397514696GRCh37Chr 12, 64173879: 64173879
61POMKNM_032237.4(POMK): c.410T> G (p.Leu137Arg)single nucleotide variantPathogenicrs397509385GRCh37Chr 8, 42977377: 42977377
62POMKNM_032237.4(POMK): c.773A> G (p.Gln258Arg)single nucleotide variantPathogenicrs397509386GRCh37Chr 8, 42977740: 42977740
63B4GAT1NM_006876.2(B4GAT1): c.1217C> T (p.Ala406Val)single nucleotide variantPathogenicrs397509396GRCh37Chr 11, 66113551: 66113551
64NM_001243766.1(POMGNT1): c.794G> A (p.Arg265His)single nucleotide variantLikely pathogenicrs386834010GRCh37Chr 1, 46660031: 46660031
65NM_017739.3(POMGNT1): c.1274G> C (p.Trp425Ser)single nucleotide variantLikely pathogenicrs386834011GRCh37Chr 1, 46658200: 46658200
66NM_017739.3(POMGNT1): c.1285-2A> Gsingle nucleotide variantLikely pathogenicrs386834012GRCh37Chr 1, 46658110: 46658110
67NM_017739.3(POMGNT1): c.1319T> G (p.Leu440Arg)single nucleotide variantLikely pathogenicrs386834013GRCh37Chr 1, 46658074: 46658074
68NM_017739.3(POMGNT1): c.1342G> C (p.Gly448Arg)single nucleotide variantLikely pathogenicrs386834014GRCh37Chr 1, 46658051: 46658051
69NM_017739.3(POMGNT1): c.1350_1354delCTGGG (p.Trp451Alafs)deletionLikely pathogenicrs386834015GRCh37Chr 1, 46658039: 46658043
70NM_017739.3(POMGNT1): c.1539+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs138642840GRCh37Chr 1, 46657769: 46657769
71NM_017739.3(POMGNT1): c.1539+1G> Tsingle nucleotide variantPathogenicrs138642840GRCh37Chr 1, 46657769: 46657769
72NM_017739.3(POMGNT1): c.1540-2A> Gsingle nucleotide variantLikely pathogenicrs386834016GRCh37Chr 1, 46656458: 46656458
73NM_017739.3(POMGNT1): c.1738C> T (p.Arg580Ter)single nucleotide variantLikely pathogenicrs386834018GRCh37Chr 1, 46655573: 46655573
74NM_017739.3(POMGNT1): c.1769G> A (p.Trp590Ter)single nucleotide variantLikely pathogenicrs386834019GRCh37Chr 1, 46655542: 46655542
75NM_017739.3(POMGNT1): c.1785+2T> Gsingle nucleotide variantLikely pathogenicrs386834020GRCh37Chr 1, 46655524: 46655524
76NM_017739.3(POMGNT1): c.1814G> A (p.Arg605His)single nucleotide variantLikely pathogenicrs267606962GRCh37Chr 1, 46655211: 46655211
77NM_017739.3(POMGNT1): c.1864delC (p.Leu622Trpfs)deletionLikely pathogenicrs386834021GRCh37Chr 1, 46655161: 46655161
78NM_017739.3(POMGNT1): c.1876delG (p.Val626Serfs)deletionLikely pathogenicrs386834022GRCh37Chr 1, 46655149: 46655149
79NM_017739.3(POMGNT1): c.1895+1G> Asingle nucleotide variantLikely pathogenicrs386834024GRCh37Chr 1, 46655129: 46655129
80NM_017739.3(POMGNT1): c.1895+1G> Tsingle nucleotide variantLikely pathogenicrs386834024GRCh37Chr 1, 46655129: 46655129
81NM_017739.3(POMGNT1): c.1895+1_1895+4delGTGAdeletionLikely pathogenicrs386834023GRCh37Chr 1, 46655126: 46655129
82NM_017739.3(POMGNT1): c.1896-1G> Csingle nucleotide variantLikely pathogenicrs386834025GRCh37Chr 1, 46655030: 46655030
83NM_017739.3(POMGNT1): c.1928delT (p.Phe643Serfs)deletionLikely pathogenicrs386834026GRCh37Chr 1, 46654997: 46654997
84POMGNT1NM_017739.3(POMGNT1): c.25dupC (p.Leu9Profs)duplicationLikely pathogenicrs386834027GRCh37Chr 1, 46663469: 46663469
85POMGNT1NM_017739.3(POMGNT1): c.351delC (p.Thr118Argfs)deletionLikely pathogenicrs386834028GRCh37Chr 1, 46662406: 46662406
86NM_017739.3(POMGNT1): c.447delT (p.Phe149Leufs)deletionLikely pathogenicrs386834029GRCh37Chr 1, 46661570: 46661570
87NM_017739.3(POMGNT1): c.526A> C (p.Thr176Pro)single nucleotide variantLikely pathogenicrs386834030GRCh37Chr 1, 46661491: 46661491
88NM_017739.3(POMGNT1): c.593delG (p.Ser198Thrfs)deletionLikely pathogenicrs386834031GRCh37Chr 1, 46660575: 46660575
89NM_017739.3(POMGNT1): c.594C> G (p.Ser198Arg)single nucleotide variantLikely pathogenicrs386834032GRCh37Chr 1, 46660574: 46660574
90NM_017739.3(POMGNT1): c.630G> T (p.Trp210Cys)single nucleotide variantLikely pathogenicrs386834033GRCh37Chr 1, 46660538: 46660538
91NM_017739.3(POMGNT1): c.643C> T (p.Arg215Ter)single nucleotide variantLikely pathogenicrs386834034GRCh37Chr 1, 46660525: 46660525
92NM_017739.3(POMGNT1): c.667G> A (p.Glu223Lys)single nucleotide variantLikely pathogenicrs386834036GRCh37Chr 1, 46660309: 46660309
93NM_017739.3(POMGNT1): c.806G> A (p.Cys269Tyr)single nucleotide variantLikely pathogenicrs386834037GRCh37Chr 1, 46660019: 46660019
94NM_017739.3(POMGNT1): c.879+5G> Asingle nucleotide variantLikely pathogenicrs386834038GRCh37Chr 1, 46659941: 46659941
95NM_017739.3(POMGNT1): c.879+5G> Tsingle nucleotide variantLikely pathogenicrs386834038GRCh37Chr 1, 46659941: 46659941
96NM_017739.3(POMGNT1): c.931C> T (p.Arg311Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386834039GRCh37Chr 1, 46659546: 46659546
97NM_017739.3(POMGNT1): c.982dupG (p.Val328Glyfs)duplicationLikely pathogenicrs386834040GRCh37Chr 1, 46659280: 46659280
98LARGELARGE, 63-KB DELdeletionPathogenic
99LARGENM_004737.4(LARGE): c.1483T> C (p.Trp495Arg)single nucleotide variantPathogenicrs267607209GRCh37Chr 22, 33700462: 33700462
100LARGELARGE, GLN87FSundetermined variantPathogenic
101LARGENM_004737.4(LARGE): c.992C> T (p.Ser331Phe)single nucleotide variantPathogenicrs267607210GRCh37Chr 22, 33780191: 33780191
102FKTNNM_001079802.1(FKTN): c.642dupT (p.Asp215Terfs)duplicationLikely pathogenic, Pathogenicrs398123557GRCh37Chr 9, 108366768: 108366768
103POMT1NM_007171.3(POMT1): c.1153C> T (p.Gln385Ter)single nucleotide variantPathogenicrs200056620GRCh37Chr 9, 134388630: 134388630
104POMT1NM_007171.3(POMT1): c.1280_1281delAGinsTC (p.Glu427Val)indelLikely pathogenicrs398124243GRCh37Chr 9, 134390851: 134390852
105POMT1NM_007171.3(POMT1): c.132A> C (p.Glu44Asp)single nucleotide variantLikely pathogenicrs398124244GRCh37Chr 9, 134381510: 134381510
106POMT1NM_007171.3(POMT1): c.793C> T (p.Arg265Ter)single nucleotide variantPathogenicrs398124247GRCh37Chr 9, 134385674: 134385674

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:001601110.8DAG1, SGCA
3basal laminaGO:000560510.7LAMA2, LAMB2
4costamereGO:004303410.1DAG1, DMD
5basement membraneGO:00056049.8COL4A1, DAG1, LAMA2, LAMB2
6dystrophin-associated glycoprotein complexGO:00160109.7DAG1, DMD, FKRP, SGCA
7Golgi membraneGO:00001399.6B3GALNT2, B4GAT1, FKRP, FKTN, MGAT4C, POMGNT1
8sarcolemmaGO:00423839.3DAG1, DMD, FKRP, LAMA2, SGCA
9integral component of membraneGO:00160218.5B3GALNT2, DAG1, FKRP, FKTN, MGAT4C, POMGNT1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1mannosylationGO:009750210.8POMT1, POMT2
2cell wall mannoprotein biosynthetic processGO:000003210.8POMT1, POMT2
3chain elongation of O-linked mannose residueGO:004484510.8POMT1, POMT2
4regulation of endoplasmic reticulum unfolded protein responseGO:190010110.8POMT1, POMT2
5glycoprotein biosynthetic processGO:000910110.7FKRP, LARGE
6myelination in peripheral nervous systemGO:002201110.7DAG1, LAMA2
7Schwann cell developmentGO:001404410.6DAG1, LAMB2
8basement membrane organizationGO:007171110.2COL4A1, DAG1
9muscle cell cellular homeostasisGO:004671610.1DMD, LARGE
10protein glycosylationGO:000648610.0B3GALNT2, B4GAT1, ISPD, LARGE, POMGNT1
11protein O-linked glycosylationGO:000649310.0B3GALNT2, POMGNT1, POMGNT2, POMK, POMT1, POMT2
12protein O-linked mannosylationGO:00352699.7B4GAT1, FKRP, FKTN, ISPD, LARGE, POMGNT2
13muscle organ developmentGO:00075179.6DMD, FKTN, LAMA2, SGCA
14axon guidanceGO:00074119.5B4GAT1, COL4A1, ISPD, LAMA2, LAMB2
15extracellular matrix organizationGO:00301989.0COL4A1, DAG1, DMD, LAMA2, LAMB2, POMT1

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:000416910.5POMT1, POMT2
2glucuronosyltransferase activityGO:001502010.2B4GAT1, LARGE
3vinculin bindingGO:001716610.1DAG1, DMD
4mannosyltransferase activityGO:000003010.1POMT1, POMT2
5acetylglucosaminyltransferase activityGO:000837510.0B3GALNT2, LARGE, POMGNT1, POMGNT2
6transferase activityGO:00167409.9FKRP, FKTN, GMPPB, LARGE
7dystroglycan bindingGO:00021629.8DAG1, 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