WWS
MCID: WLK001
MIFTS: 63

Walker-Warburg Syndrome (WWS)

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

Aliases & Classifications for Walker-Warburg Syndrome

MalaCards integrated aliases for Walker-Warburg Syndrome:

Name: Walker-Warburg Syndrome 12 52 25 58 54 43 15
Walker-Warburg Congenital Muscular Dystrophy 25 29 6 71
Hard Syndrome 12 52 25 58
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome 12 25
Cod-Md Syndrome 52 25
Chemke Syndrome 52 25
Muscular Dystrophy-Dystroglycanopathy [with Brain and Eye Anomalies], Type a 25
Cerebroocular Dysplasia Muscular Dystrophy Syndrome 52
Muscular Dystrophy-Dystroglycanopathy , Type a 25
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome 58
Dystrophy, Muscular, Dystroglycanopathy, Type a 39
Hydrocephalus, Agyria, and Retinal Dysplasia 25
Muscular Dystrophy-Dystroglycanopathy Type a 36
Hydrocephalus, Agyria and Retinal Dysplasia 52
Cerebroocular Dysgenesis 52
Syndrome, Walker-Warburg 39
Hard +/- E Syndrome 52
Warburg Syndrome 52
Pagon Syndrome 52
Mddga 25
Wws 58

Characteristics:

Orphanet epidemiological data:

58
walker-warburg syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Walker-Warburg Syndrome

Genetics Home Reference : 25 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. Walker-Warburg syndrome affects the skeletal muscles, which are muscles the body uses for movement. Affected babies have weak muscle tone (hypotonia) and are sometimes described as "floppy." The muscle weakness worsens over time. Walker-Warburg syndrome also affects the brain; individuals with this condition typically have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain lacks the normal folds and grooves and instead develops a bumpy, irregular appearance (like that of cobblestones). These individuals may also have a buildup of fluid in the brain (hydrocephalus) or abnormalities of certain parts of the brain, including a region called the cerebellum and the part of the brain that connects to the spinal cord (the brainstem). These changes in the structure of the brain lead to significantly delayed development and intellectual disability. Some individuals with Walker-Warburg syndrome experience seizures. Eye abnormalities are also characteristic of Walker-Warburg syndrome. These can include unusually small eyeballs (microphthalmia), enlarged eyeballs caused by increased pressure in the eyes (buphthalmos), clouding of the lenses of the eyes (cataracts), and problems with the nerve that relays visual information from the eyes to the brain (the optic nerve). These eye problems lead to vision impairment in affected individuals.

MalaCards based summary : Walker-Warburg Syndrome, also known as walker-warburg congenital muscular dystrophy, is related to muscular dystrophy-dystroglycanopathy , type a, 1 and muscular dystrophy-dystroglycanopathy , type a, 8, and has symptoms including seizures An important gene associated with Walker-Warburg Syndrome is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Metabolism. Affiliated tissues include eye, brain and skeletal muscle, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has material basis in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1.

NIH Rare Diseases : 52 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.

KEGG : 36 Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. At the most severe end of the clinical spectrum are Walker-Warburg syndrome (WWS), Muscle-eye-brain disease (MEB), and Fukuyama congenital muscular dystrophy (FCMD). These are termed muscular dystrophy-dystroglycanopathy type A (MDDGA), and characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities, which in WWS results in early infantile death.

Wikipedia : 74 Walker-Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome... more...

Related Diseases for Walker-Warburg Syndrome

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

(show top 50) (show all 262)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 34.8 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 LAMA2
2 muscular dystrophy-dystroglycanopathy , type a, 8 34.7 POMGNT2 CRPPA
3 muscular dystrophy-dystroglycanopathy , type a, 4 34.5 SGCA RXYLT1 POMT2 POMT1 POMK POMGNT2
4 muscular dystrophy-dystroglycanopathy , type c, 1 33.8 POMT2 POMT1 POMGNT1 GMPPB FKTN FKRP
5 lissencephaly 33.8 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
6 congenital muscular dystrophy-dystroglycanopathy type a1 33.4 POMT2 POMT1 POMK POMGNT1 FKTN FKRP
7 congenital muscular dystrophy-dystroglycanopathy type a10 33.3 RXYLT1 POMK LAMA2 B3GALNT2
8 congenital muscular dystrophy-dystroglycanopathy type a3 33.3 RXYLT1 POMT2 POMK POMGNT2 POMGNT1 B3GALNT2
9 congenital muscular dystrophy-dystroglycanopathy a14 33.3 LAMA2 GMPPB DAG1
10 congenital muscular dystrophy-dystroglycanopathy type a5 33.3 POMGNT2 FKRP DAG1 B3GNT2
11 congenital muscular dystrophy-dystroglycanopathy a7 33.3 FKTN CRPPA
12 congenital muscular dystrophy-dystroglycanopathy type a2 33.3 POMT2 POMT1
13 congenital muscular dystrophy-dystroglycanopathy type a11 33.3 DAG1 B3GALNT2
14 congenital muscular dystrophy-dystroglycanopathy type a 33.2 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
15 muscular dystrophy, congenital, lmna-related 32.5 RXYLT1 POMT2 POMT1 POMGNT1 LAMA2 GMPPB
16 muscular dystrophy 32.4 SGCA RXYLT1 POMT2 POMT1 POMK POMGNT2
17 cobblestone lissencephaly 31.9 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
18 muscle eye brain disease 31.9 SGCA RXYLT1 POMT2 POMT1 POMK POMGNT2
19 myopathy 31.8 SGCA POMT1 LAMA2 FKTN FKRP DMD
20 congenital muscular dystrophy due to dystroglycanopathy 31.8 GMPPB FKRP CRPPA
21 limb-girdle muscular dystrophy 31.7 SGCA POMT1 POMGNT2 POMGNT1 LAMA2 FKTN
22 ablepharon-macrostomia syndrome 31.7 POMT1 POMGNT1 LARGE1 FKTN FKRP
23 peters-plus syndrome 31.5 POMT2 POMT1 POMGNT1 DAG1 COL4A1
24 muscular dystrophy-dystroglycanopathy , type c, 4 31.3 POMT2 POMT1 POMGNT1 FKTN FKRP DAG1
25 periventricular nodular heterotopia 31.3 POMT2 POMT1 POMGNT1 FKTN
26 autosomal recessive limb-girdle muscular dystrophy 31.3 SGCA POMT1 LAMA2 FKTN FKRP DMD
27 progressive muscular dystrophy 31.3 SGCA DMD
28 muscular dystrophy, duchenne type 31.2 SGCA LAMA2 FKTN DMD DAG1
29 muscular dystrophy-dystroglycanopathy , type c, 5 31.2 SGCA POMT2 POMT1 POMGNT2 POMGNT1 LAMA2
30 atrial standstill 1 31.1 SGCA FKRP DMD
31 muscular dystrophy-dystroglycanopathy 31.0 SGCA RXYLT1 POMT2 POMT1 POMK POMGNT2
32 muscular dystrophy-dystroglycanopathy , type a, 7 12.4
33 muscular dystrophy-dystroglycanopathy , type a, 5 12.4
34 muscular dystrophy-dystroglycanopathy , type a, 3 12.4
35 muscular dystrophy-dystroglycanopathy , type a, 13 12.4
36 muscular dystrophy-dystroglycanopathy , type a, 2 12.4
37 muscular dystrophy-dystroglycanopathy , type a, 6 12.4
38 muscular dystrophy-dystroglycanopathy , type a, 9 12.4
39 palmer pagon syndrome 12.3
40 muscular dystrophy-dystroglycanopathy , type a, 10 12.2
41 muscular dystrophy-dystroglycanopathy , type a, 11 12.2
42 muscular dystrophy-dystroglycanopathy , type a, 12 12.2
43 muscular dystrophy-dystroglycanopathy , type a, 14 12.1
44 cerebellar hypoplasia 11.8
45 muscular dystrophy-dystroglycanopathy , type b, 1 11.8
46 congenital muscular dystrophy-dystroglycanopathy type a13 11.6
47 muscular dystrophy, congenital, merosin-positive 11.5
48 congenital muscular dystrophy-dystroglycanopathy type a8 11.5
49 congenital muscular dystrophy-dystroglycanopathy type a9 11.5
50 congenital muscular dystrophy-dystroglycanopathy type a12 11.5

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



Diseases related to Walker-Warburg Syndrome

Symptoms & Phenotypes for Walker-Warburg Syndrome

Human phenotypes related to Walker-Warburg Syndrome:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
5 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
6 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
7 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
8 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
9 retinal detachment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000541
10 areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001284
11 chorioretinal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007731
12 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
13 metatarsus valgus 58 31 hallmark (90%) Very frequent (99-80%) HP:0010508
14 polymicrogyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002126
15 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
16 pachygyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001302
17 muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003560
18 retinal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000556
19 retinal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007973
20 aplasia/hypoplasia involving the skeletal musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0001460
21 macrogyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0007227
22 abnormal aldolase level 58 31 hallmark (90%) Very frequent (99-80%) HP:0012400
23 abnormal circulating creatine kinase concentration 31 hallmark (90%) HP:0040081
24 abnormal lactate dehydrogenase level 31 hallmark (90%) HP:0045040
25 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
26 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
27 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
28 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
29 anophthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000528
30 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
31 dandy-walker malformation 58 31 frequent (33%) Frequent (79-30%) HP:0001305
32 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
33 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
34 absent septum pellucidum 58 31 frequent (33%) Frequent (79-30%) HP:0001331
35 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
36 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
37 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
38 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
39 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
40 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
41 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
42 submucous cleft hard palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000176
43 posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000358
44 seizure 31 occasional (7.5%) HP:0001250
45 seizures 58 Occasional (29-5%)
46 cleft palate 58 Occasional (29-5%)
47 abnormal levels of creatine kinase in blood 58 Very frequent (99-80%)
48 ventriculomegaly 58 Very frequent (99-80%)
49 abnormality of neuronal migration 58 Very frequent (99-80%)
50 abnormal cortical gyration 58 Very frequent (99-80%)

UMLS symptoms related to Walker-Warburg Syndrome:


seizures

MGI Mouse Phenotypes related to Walker-Warburg Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.28 B3GNT2 B4GAT1 COL4A1 DAG1 DMD FKRP
2 cellular MP:0005384 10.25 B3GNT2 B4GAT1 COL4A1 CRPPA DAG1 DMD
3 growth/size/body region MP:0005378 10.24 B3GALNT2 B3GNT2 B4GAT1 COL4A1 DAG1 DMD
4 mortality/aging MP:0010768 10.16 B3GALNT2 B4GAT1 COL4A1 CRPPA DAG1 DMD
5 immune system MP:0005387 10.06 B3GNT2 B4GAT1 COL4A1 DMD FKRP FKTN
6 muscle MP:0005369 9.9 B4GAT1 COL4A1 DAG1 DMD FKRP FKTN
7 nervous system MP:0003631 9.86 B3GNT2 B4GAT1 COL4A1 CRPPA DAG1 DMD
8 vision/eye MP:0005391 9.28 COL4A1 DAG1 DMD FKRP LAMB2 LARGE1

Drugs & Therapeutics for Walker-Warburg Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
2 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
3 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
4 The Global FKRP Patient Registry Recruiting NCT04001595

Search NIH Clinical Center for Walker-Warburg Syndrome

Cochrane evidence based reviews: walker-warburg syndrome

Genetic Tests for Walker-Warburg Syndrome

Genetic tests related to Walker-Warburg Syndrome:

# Genetic test Affiliating Genes
1 Walker-Warburg Congenital Muscular Dystrophy 29

Anatomical Context for Walker-Warburg Syndrome

MalaCards organs/tissues related to Walker-Warburg Syndrome:

40
Eye, Brain, Skeletal Muscle, Cerebellum, Spinal Cord, Testes, Retina

Publications for Walker-Warburg Syndrome

Articles related to Walker-Warburg Syndrome:

(show top 50) (show all 337)
# Title Authors PMID Year
1
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. 54 61 6
18513969 2008
2
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. 6 61 54
17436019 2007
3
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 54 6 61
15894594 2005
4
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. 6 61 54
15121789 2004
5
Walker-Warburg syndrome: neurologic features and muscle membrane structure. 6 54 61
9492098 1998
6
Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome. 6 61
25934851 2015
7
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. 61 6
24925318 2014
8
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. 61 6
23877401 2013
9
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. 61 6
23359570 2013
10
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. 61 6
23519211 2013
11
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 6 61
23217329 2012
12
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. 6 61
22958903 2012
13
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 6 61
22522420 2012
14
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. 61 6
22522421 2012
15
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. 61 6
20236121 2010
16
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. 6 61
19138766 2009
17
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. 6 61
19067344 2008
18
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. 6 61
18177472 2008
19
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 61 6
17878207 2007
20
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. 6 61
17634419 2007
21
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. 6 61
15037715 2004
22
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. 61 6
12369018 2002
23
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. 61 6
11320179 2001
24
Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. 61 6
10738921 2000
25
Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. 61 6
7604843 1995
26
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. 6
24556084 2014
27
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. 6
24052401 2013
28
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. 6
23453667 2013
29
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
30
Consensus statement on standard of care for congenital muscular dystrophies. 6
21078917 2010
31
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6
19299310 2009
32
POMT2 mutation in a patient with 'MEB-like' phenotype. 6
16701995 2006
33
Fukuyama Congenital Muscular Dystrophy 6
20301385 2006
34
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 6
12666124 2003
35
Congenital Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301468 2001
36
Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2. 61 54
19880378 2010
37
Mutations alter secretion of fukutin-related protein. 54 61
19900540 2010
38
Zebrafish models for human FKRP muscular dystrophies. 61 54
19955119 2010
39
Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. 54 61
19547838 2009
40
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. 54 61
19266496 2009
41
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. 61 54
19179078 2009
42
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. 61 54
18752264 2008
43
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. 61 54
18640039 2008
44
[Congenital muscular dystrophy and alpha-dystroglycanopathy]. 61 54
18939472 2008
45
POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo. 61 54
18490429 2008
46
Synaptic defects in a Drosophila model of congenital muscular dystrophy. 61 54
18385336 2008
47
Muscular dystrophies due to defective glycosylation of dystroglycan. 61 54
18646561 2007
48
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo. 54 61
17554798 2007
49
Molecular heterogeneity in fetal forms of type II lissencephaly. 61 54
17559086 2007
50
A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. 54 61
17161965 2007

Variations for Walker-Warburg Syndrome

ClinVar genetic disease variations for Walker-Warburg Syndrome:

6 (show top 50) (show all 499) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FKRP NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter)SNV Pathogenic 408721 rs1060502109 19:47259790-47259790 19:46756533-46756533
2 FKRP NM_024301.5(FKRP):c.-39-2934_564deldeletion Pathogenic 408658 19:47255735-47259271 19:46752478-46756014
3 POMT1 NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)SNV Pathogenic 471374 rs1554780670 9:134393920-134393920 9:131518533-131518533
4 FKRP NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)duplication Pathogenic 459232 rs1290836394 19:47258862-47258863 19:46755605-46755606
5 FKRP NM_024301.5(FKRP):c.142del (p.Arg48fs)deletion Pathogenic 459229 rs1555738103 19:47258845-47258845 19:46755588-46755588
6 POMT1 NM_001077365.2(POMT1):c.605+1G>CSNV Pathogenic 538720 rs766648827 9:134385196-134385196 9:131509809-131509809
7 POMT1 NM_001077365.2(POMT1):c.699+62deldeletion Pathogenic 538723 rs1356791510 9:134385445-134385445 9:131510058-131510058
8 FKTN NC_000009.12:g.(?_105546358)_(105620061_?)deldeletion Pathogenic 583945 9:108308639-108382342 9:105546358-105620061
9 FKTN NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs)insertion Pathogenic 566601 rs1564290459 9:108366528-108366529 9:105604247-105604248
10 FKRP NM_024301.5(FKRP):c.1077_1078dup (p.Asp360fs)duplication Pathogenic 580998 rs1568419860 19:47259782-47259783 19:46756525-46756526
11 POMT1 NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)deletion Pathogenic 594265 rs1564364615 9:134390832-134390833 9:131515445-131515446
12 FKTN NM_006731.2(FKTN):c.432del (p.Arg146fs)deletion Pathogenic 648485 9:108366558-108366558 9:105604277-105604277
13 FKTN NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter)SNV Pathogenic 657849 9:108377646-108377646 9:105615365-105615365
14 FKTN NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)SNV Pathogenic 649651 9:108382323-108382323 9:105620042-105620042
15 POMT1 NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs)duplication Pathogenic 655295 9:134397437-134397438 9:131522050-131522051
16 POMT1 NM_001077365.2(POMT1):c.606del (p.Ile203fs)deletion Pathogenic 638831 9:134385290-134385290 9:131509903-131509903
17 POMT1 NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)SNV Pathogenic 658622 9:134386846-134386846 9:131511459-131511459
18 FKRP NM_024301.5(FKRP):c.948del (p.Cys317fs)deletion Pathogenic 664273 19:47259650-47259650 19:46756393-46756393
19 FKRP NC_000019.10:g.(?_46755431)_(46756958_?)deldeletion Pathogenic 642043 19:47258688-47260215 19:46755431-46756958
20 FKTN NM_001079802.2(FKTN):c.1167_1168dup (p.Phe390fs)duplication Pathogenic 804217 9:108382336-108382337 9:105620055-105620056
21 FKTN NC_000009.12:g.(?_105575023)_(105575147_?)deldeletion Pathogenic 831068 9:108337304-108337428
22 FKTN NC_000009.12:g.(?_105606576)_(105641128_?)deldeletion Pathogenic 830968 9:108368857-108403409
23 FKTN NM_001079802.2(FKTN):c.329_330del (p.Phe110fs)deletion Pathogenic 844703 9:108363588-108363589 9:105601307-105601308
24 FKTN NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter)SNV Pathogenic 842546 9:108370110-108370110 9:105607829-105607829
25 FKTN NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)SNV Pathogenic 842124 9:108370218-108370218 9:105607937-105607937
26 POMT1 NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)deletion Pathogenic 864585 9:134382888-134382888 9:131507501-131507501
27 POMT1 NM_001077365.2(POMT1):c.1671del (p.Ile557fs)deletion Pathogenic 848752 9:134395552-134395552 9:131520165-131520165
28 FKTN NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)SNV Pathogenic 3200 rs119463990 9:108358912-108358912 9:105596631-105596631
29 FKTN NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)duplication Pathogenic 3203 rs398123555 9:108382330-108382331 9:105620049-105620050
30 FKTN NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)SNV Pathogenic 3206 rs119463991 9:108363606-108363606 9:105601325-105601325
31 FKTN NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)SNV Pathogenic 3208 rs119463992 9:108380249-108380249 9:105617968-105617968
32 FKTN NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)SNV Pathogenic 3216 rs267606814 9:108380248-108380248 9:105617967-105617967
33 POMT1 NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)duplication Pathogenic 3255 rs398124245 9:134398412-134398413 9:131523025-131523026
34 FKRP NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)SNV Pathogenic 4219 rs104894680 19:47259861-47259861 19:46756604-46756604
35 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)SNV Pathogenic 4221 rs28937900 19:47259533-47259533 19:46756276-46756276
36 FKRP NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)SNV Pathogenic 4226 rs28937903 19:47260071-47260071 19:46756814-46756814
37 FKRP NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)SNV Pathogenic 4235 rs121908110 19:47260094-47260094 19:46756837-46756837
38 POMT1 NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)SNV Pathogenic 95452 rs200056620 9:134388630-134388630 9:131513243-131513243
39 FKRP NM_024301.5(FKRP):c.941C>T (p.Thr314Met)SNV Pathogenic 96115 rs398124395 19:47259648-47259648 19:46756391-46756391
40 POMT1 NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)SNV Pathogenic 194859 rs794727208 9:134396832-134396832 9:131521445-131521445
41 FKTN NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)SNV Pathogenic 225359 rs746763506 9:108366733-108366733 9:105604452-105604452
42 FKRP NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)duplication Pathogenic 282866 rs886042506 19:47258867-47258868 19:46755610-46755611
43 FKRP NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)SNV Pathogenic/Likely pathogenic 282247 rs543163491 19:47259252-47259252 19:46755995-46755995
44 FKRP NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)SNV Pathogenic/Likely pathogenic 289473 rs886044183 19:47259677-47259677 19:46756420-46756420
45 FKRP NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)SNV Pathogenic/Likely pathogenic 197347 rs752582904 19:47259654-47259654 19:46756397-46756397
46 POMT1 NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)SNV Pathogenic/Likely pathogenic 194962 rs149682171 9:134397500-134397500 9:131522113-131522113
47 FKTN NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)SNV Pathogenic/Likely pathogenic 167069 rs537001725 9:108366537-108366537 9:105604256-105604256
48 FKTN NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)duplication Pathogenic/Likely pathogenic 93523 rs398123557 9:108366764-108366765 9:105604483-105604484
49 FKTN NM_001079802.2(FKTN):c.1106del (p.Phe369fs)deletion Pathogenic/Likely pathogenic 371091 rs750176716 9:108382270-108382270 9:105619989-105619989
50 FKRP NM_024301.5(FKRP):c.899T>C (p.Val300Ala)SNV Pathogenic/Likely pathogenic 4232 rs104894691 19:47259606-47259606 19:46756349-46756349

Copy number variations for Walker-Warburg Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 247187 9 129300000 134900000 Copy number POMT1 Walker-Warburg syndrome

Expression for Walker-Warburg Syndrome

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

Pathways for Walker-Warburg Syndrome

Pathways related to Walker-Warburg Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Mannose type O-glycan biosynthesis hsa00515

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
2
Show member pathways
13.49 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE1
3
Show member pathways
12.53 LAMB2 LAMA2 DMD DAG1 COL4A1
4
Show member pathways
12.27 LAMB2 LAMA2 DMD DAG1
5
Show member pathways
12 SGCA LAMA2 DMD DAG1
6
Show member pathways
11.92 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE1
7
Show member pathways
11.9 LAMB2 LAMA2 DAG1 COL4A1
8
Show member pathways
11.86 LAMB2 DAG1 COL4A1
9
Show member pathways
11.85 SGCA LAMA2 DMD DAG1
10 11.71 LAMB2 LAMA2 COL4A1
11 11.63 LAMB2 LAMA2 COL4A1
12 11.39 LAMB2 LAMA2 DAG1
13 10.76 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
14 10.71 LAMA2 DMD DAG1

GO Terms for Walker-Warburg Syndrome

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.39 SGCA RXYLT1 POMT2 POMT1 POMK POMGNT2
2 integral component of membrane GO:0016021 10.25 SGCA RXYLT1 POMT2 POMT1 POMK POMGNT2
3 endoplasmic reticulum GO:0005783 10.06 POMT2 POMT1 POMK POMGNT2 FKTN FKRP
4 Golgi apparatus GO:0005794 9.91 RXYLT1 POMGNT1 LARGE1 FKTN FKRP DMD
5 collagen-containing extracellular matrix GO:0062023 9.83 LAMB2 LAMA2 DAG1 COL4A1
6 basement membrane GO:0005604 9.67 LAMB2 LAMA2 DAG1 COL4A1
7 dystrophin-associated glycoprotein complex GO:0016010 9.5 SGCA DMD DAG1
8 synaptic cleft GO:0043083 9.49 LAMB2 LAMA2
9 costamere GO:0043034 9.48 DMD DAG1
10 integral component of Golgi membrane GO:0030173 9.46 POMGNT1 LARGE1 FKTN B4GAT1
11 dystroglycan complex GO:0016011 9.43 SGCA DAG1
12 sarcolemma GO:0042383 9.35 SGCA LAMA2 FKRP DMD DAG1
13 Golgi membrane GO:0000139 9.23 RXYLT1 POMGNT1 LARGE1 FKTN FKRP B4GAT1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.83 POMT1 LAMB2 LAMA2 DAG1 COL4A1
2 protein O-linked mannosylation GO:0035269 9.81 RXYLT1 POMT2 POMT1 POMGNT2 LARGE1 FKTN
3 axon guidance GO:0007411 9.77 LAMB2 LAMA2 DAG1 CRPPA B3GNT2
4 muscle organ development GO:0007517 9.71 SGCA LAMA2 FKTN DMD
5 protein O-linked glycosylation GO:0006493 9.65 POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE1
6 muscle cell cellular homeostasis GO:0046716 9.56 LARGE1 DMD
7 skeletal muscle tissue regeneration GO:0043403 9.56 SGCA LARGE1 DMD DAG1
8 mannosylation GO:0097502 9.55 POMT2 POMT1
9 poly-N-acetyllactosamine biosynthetic process GO:0030311 9.54 B4GAT1 B3GNT2
10 basement membrane organization GO:0071711 9.52 DAG1 COL4A1
11 glycoprotein biosynthetic process GO:0009101 9.51 LARGE1 FKRP
12 response to denervation involved in regulation of muscle adaptation GO:0014894 9.5 SGCA DMD DAG1
13 Schwann cell development GO:0014044 9.49 LAMB2 DAG1
14 Schwann cell differentiation GO:0014037 9.48 LAMA2 DAG1
15 positive regulation of protein O-linked glycosylation GO:1904100 9.46 POMT2 POMT1
16 protein glycosylation GO:0006486 9.4 RXYLT1 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.63 LAMB2 LAMA2 COL4A1
2 transferase activity, transferring glycosyl groups GO:0016757 9.56 POMT2 POMT1 POMGNT2 POMGNT1 LARGE1 B4GAT1
3 acetylglucosaminyltransferase activity GO:0008375 9.55 POMGNT2 POMGNT1 LARGE1 B3GNT2 B3GALNT2
4 galactosyltransferase activity GO:0008378 9.48 B3GNT2 B3GALNT2
5 transferase activity GO:0016740 9.47 RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
6 mannosyltransferase activity GO:0000030 9.43 POMT2 POMT1
7 dystroglycan binding GO:0002162 9.43 FKRP DMD DAG1
8 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity GO:0008532 9.4 B4GAT1 B3GNT2
9 vinculin binding GO:0017166 9.37 DMD DAG1
10 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.32 POMT2 POMT1

Sources for Walker-Warburg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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