Walker-Warburg Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

WWS MCID: WLK001 MIFTS: 63	Walker-Warburg Syndrome (WWS) Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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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:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0050560

KEGG ³⁶ H00120

MeSH ⁴³ D058494

MESH via Orphanet ⁴⁴ D058494

ICD10 via Orphanet ³³ G71.0

UMLS via Orphanet ⁷² C0265221

Orphanet ⁵⁸ ORPHA899

UMLS ⁷¹ C0265221

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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...

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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:

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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

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Drugs & Therapeutics for Walker-Warburg Syndrome

Interventional clinical trials:

#	Name	Status	NCT ID
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

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Genetic Tests for Walker-Warburg Syndrome

Genetic tests related to Walker-Warburg Syndrome:

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

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Anatomical Context for Walker-Warburg Syndrome

MalaCards organs/tissues related to Walker-Warburg Syndrome:

⁴⁰

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

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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	Messina S...Mercuri E	18513969	2008
2	Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. ⁶ ⁶¹ ⁵⁴	van Reeuwijk J...Voit T	17436019	2007
3	POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. ⁵⁴ ⁶ ⁶¹	van Reeuwijk J...van Bokhoven H	15894594	2005
4	Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. ⁶ ⁶¹ ⁵⁴	Beltran-Valero de Bernabe D...Muntoni F	15121789	2004
5	Walker-Warburg syndrome: neurologic features and muscle membrane structure. ⁶ ⁵⁴ ⁶¹	Kanoff RJ...Pegoraro E	9492098	1998
6	Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome. ⁶ ⁶¹	Riemersma M...van Bokhoven H	25934851	2015
7	POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. ⁶¹ ⁶	Di Costanzo S...Manzini MC	24925318	2014
8	A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. ⁶¹ ⁶	Shaheen R...Alkuraya FS	23877401	2013
9	Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. ⁶¹ ⁶	Buysse K...van Bokhoven H	23359570	2013
10	Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. ⁶¹ ⁶	Jae LT...Brummelkamp TR	23519211	2013
11	Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. ⁶ ⁶¹	Vuillaumier-Barrot S...Seta N	23217329	2012
12	Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. ⁶ ⁶¹	Manzini MC...Walsh CA	22958903	2012
13	ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. ⁶ ⁶¹	Willer T...Campbell KP	22522420	2012
14	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. ⁶¹ ⁶	Roscioli T...van Bokhoven H	22522421	2012
15	A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. ⁶¹ ⁶	Van Reeuwijk J...Hol FA	20236121	2010
16	POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. ⁶ ⁶¹	Yanagisawa A...Guicheney P	19138766	2009
17	Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. ⁶ ⁶¹	Clement E...Muntoni F	19067344	2008
18	Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. ⁶ ⁶¹	Cotarelo RP...Cruces J	18177472	2008
19	Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. ⁶¹ ⁶	Godfrey C...Muntoni F	17878207	2007
20	New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. ⁶ ⁶¹	Yanagisawa A...Guicheney P	17634419	2007
21	POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. ⁶ ⁶¹	Kim DS...Nishino I	15037715	2004
22	Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. ⁶¹ ⁶	Beltran-Valero de Bernabe D...Brunner HG	12369018	2002
23	Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. ⁶¹ ⁶	Cormand B...Lehesjoki AE	11320179	2001
24	Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. ⁶¹ ⁶	Vajsar J...Becker LE	10738921	2000
25	Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. ⁶¹ ⁶	Chitayat D...Becker LE	7604843	1995
26	POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. ⁶	von Renesse A...Schuelke M	24556084	2014
27	Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. ⁶	Geis T...Blankenburg M	24052401	2013
28	Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. ⁶	Stevens E...Muntoni F	23453667	2013
29	Carrier testing for severe childhood recessive diseases by next-generation sequencing. ⁶	Bell CJ...Kingsmore SF	21228398	2011
30	Consensus statement on standard of care for congenital muscular dystrophies. ⁶	Wang CH...International Standard of Care Committee for Congenital Muscular Dystrophy	21078917	2010
31	Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. ⁶	Mercuri E...Bertini E	19299310	2009
32	POMT2 mutation in a patient with 'MEB-like' phenotype. ⁶	Mercuri E...Santorelli FM	16701995	2006
33	Fukuyama Congenital Muscular Dystrophy ⁶	Saito K	20301385	2006
34	Phenotypic spectrum associated with mutations in the fukutin-related protein gene. ⁶	Mercuri E...Muntoni F	12666124	2003
35	Congenital Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶	Sparks SE...Pegoraro E	20301468	2001
36	Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2. ⁶¹ ⁵⁴	Manya H...Endo T	19880378	2010
37	Mutations alter secretion of fukutin-related protein. ⁵⁴ ⁶¹	Lu PJ...Lu QL	19900540	2010
38	Zebrafish models for human FKRP muscular dystrophies. ⁶¹ ⁵⁴	Kawahara G...Kunkel LM	19955119	2010
39	Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. ⁵⁴ ⁶¹	Reed UC	19547838	2009
40	Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. ⁵⁴ ⁶¹	Chang W...Chung WK	19266496	2009
41	Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. ⁶¹ ⁵⁴	Vuillaumier-Barrot S...Seta N	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	Manzini MC...Walsh CA	18752264	2008
43	Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. ⁶¹ ⁵⁴	Vajsar J...Ray PN	18640039	2008
44	[Congenital muscular dystrophy and alpha-dystroglycanopathy]. ⁶¹ ⁵⁴	Saito F...Shimizu T	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	Lommel M...Strahl S	18490429	2008
46	Synaptic defects in a Drosophila model of congenital muscular dystrophy. ⁶¹ ⁵⁴	Wairkar YP...DiAntonio A	18385336	2008
47	Muscular dystrophies due to defective glycosylation of dystroglycan. ⁶¹ ⁵⁴	Muntoni F...Brown SC	18646561	2007
48	Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo. ⁵⁴ ⁶¹	Keramaris-Vrantsis E...Lu QL	17554798	2007
49	Molecular heterogeneity in fetal forms of type II lissencephaly. ⁶¹ ⁵⁴	Bouchet C...Seta N	17559086	2007
50	A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. ⁵⁴ ⁶¹	Yis U...Hehr U	17161965	2007

Sources

Genes for Walker-Warburg Syndrome

Genes related to Walker-Warburg Syndrome (14 elite genes):

(show top 50) (show all 88)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	POMT1	Protein O-Mannosyltransferase 1	Protein Coding	798.86	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	15037715 18513969 20301468 (more) 17878207 12369018 19299310 11320179 21078917 16575835 15792865 12966029 15271988 15605948 18640039 17161965 16698797 18646561 15522202 19880378 12757935 17072003 17079174 18385336 18513969 18939472 15637732
2	FKTN	Fukutin	Protein Coding	798.47	Pathogenic/Likely pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	18177472 20301385 21228398 (more) 20301468 21078917 8534509 12966029 15605948 19266496 19179078 8752416 18752264 8737821 18646561 10817652
3	FKRP	Fukutin Related Protein	Protein Coding	787.84	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications (show sections)	15121789 20236121 20301385 (more) 20301468 12666124 21078917 12966029 17554798 15121789 15773323 19900540 19955119
4	POMT2	Protein O-Mannosyltransferase 2	Protein Coding	398.27	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	18513969 18939472 15894594 (more) 18490429 18646561
5	POMGNT1	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)	Protein Coding	388.2	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications (show sections)	12966029 15605948 18939472 (more) 18646561
6	DAG1	Dystroglycan 1	Protein Coding	386.74	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications (show sections)	17559086 19266496 16575835
7	CRPPA	CDP-L-Ribitol Pyrophosphorylase A	Protein Coding	384.92	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)
8	POMGNT2	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)	Protein Coding	384.33	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications (show sections)	15229394 12707004
9	LARGE1	LARGE Xylosyl- And Glucuronyltransferase 1	Protein Coding	383.9	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications (show sections)	17436019 15605948 15773323
10	POMK	Protein O-Mannose Kinase	Protein Coding	375.42	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries (show sections)
11	B4GAT1	Beta-1,4-Glucuronyltransferase 1	Protein Coding	366.37	Causative germline mutation (loss of function) ⁵⁸ GeneCards inferred via : Disorders Publications (show sections)
12	RXYLT1	Ribitol Xylosyltransferase 1	Protein Coding	366.1	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
13	B3GALNT2	Beta-1,3-N-Acetylgalactosaminyltransferase 2	Protein Coding	365.98	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
14	COL4A1	Collagen Type IV Alpha 1 Chain	Protein Coding	362.63	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	LAMA2	Laminin Subunit Alpha 2	Protein Coding	25.9	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	7477753 8542045 9492098 (more) 9660506 8879654 8971752
16	SGCA	Sarcoglycan Alpha	Protein Coding	23.19	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	7501167 9845296
17	DMD	Dystrophin	Protein Coding	22.4	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	19547838
18	LAMB2	Laminin Subunit Beta 2	Protein Coding	16.15	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	7501167 9327401
19	GMPPB	GDP-Mannose Pyrophosphorylase B	Protein Coding	15.69	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
20	B3GNT2	UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 2	Protein Coding	13.83	DISEASES inferred ¹⁵ ¹⁵
21	DPM3	Dolichyl-Phosphate Mannosyltransferase Subunit 3, Regulatory	Protein Coding	7.81	DISEASES inferred ¹⁵
22	ZC4H2	Zinc Finger C4H2-Type Containing	Protein Coding	7.64	DISEASES inferred ¹⁵
23	AGRN	Agrin	Protein Coding	7.44	DISEASES inferred ¹⁵
24	DPM2	Dolichyl-Phosphate Mannosyltransferase Subunit 2, Regulatory	Protein Coding	7.27	DISEASES inferred ¹⁵
25	DOLK	Dolichol Kinase	Protein Coding	7.2	DISEASES inferred ¹⁵
26	EGFLAM	EGF Like, Fibronectin Type III And Laminin G Domains	Protein Coding	7.07	DISEASES inferred ¹⁵
27	HSPG2	Heparan Sulfate Proteoglycan 2	Protein Coding	6.73	DISEASES inferred ¹⁵
28	ADGRG1	Adhesion G Protein-Coupled Receptor G1	Protein Coding	6.6	DISEASES inferred ¹⁵
29	LARGE2	LARGE Xylosyl- And Glucuronyltransferase 2	Protein Coding	6.55	DISEASES inferred ¹⁵
30	DPM1	Dolichyl-Phosphate Mannosyltransferase Subunit 1, Catalytic	Protein Coding	6.25	DISEASES inferred ¹⁵
31	ALG1	ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase	Protein Coding	6.13	DISEASES inferred ¹⁵
32	MGAT5B	Alpha-1,6-Mannosylglycoprotein 6-Beta-N-Acetylglucosaminyltransferase B	Protein Coding	6.06	DISEASES inferred ¹⁵
33	UTRN	Utrophin	Protein Coding	6	DISEASES inferred ¹⁵
34	SSPN	Sarcospan	Protein Coding	5.91	DISEASES inferred ¹⁵
35	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	5.91	DISEASES inferred ¹⁵
36	PMM2	Phosphomannomutase 2	Protein Coding	5.85	DISEASES inferred ¹⁵
37	SELENON	Selenoprotein N	Protein Coding	5.75	DISEASES inferred ¹⁵
38	MGAT4C	MGAT4 Family Member C	Protein Coding	5.64	DISEASES inferred ¹⁵
39	DPAGT1	Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1	Protein Coding	5.63	DISEASES inferred ¹⁵
40	CAPN3	Calpain 3	Protein Coding	5.62	DISEASES inferred ¹⁵
41	PTAR1	Protein Prenyltransferase Alpha Subunit Repeat Containing 1	Protein Coding	5.58	DISEASES inferred ¹⁵
42	SRD5A3	Steroid 5 Alpha-Reductase 3	Protein Coding	5.57	DISEASES inferred ¹⁵
43	TUBA1A	Tubulin Alpha 1a	Protein Coding	5.54	DISEASES inferred ¹⁵
44	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	5.52	DISEASES inferred ¹⁵
45	DYSF	Dysferlin	Protein Coding	5.49	DISEASES inferred ¹⁵
46	SGCD	Sarcoglycan Delta	Protein Coding	5.39	DISEASES inferred ¹⁵
47	CHST10	Carbohydrate Sulfotransferase 10	Protein Coding	5.35	DISEASES inferred ¹⁵
48	CHPF	Chondroitin Polymerizing Factor	Protein Coding	5.34	DISEASES inferred ¹⁵
49	ITGA7	Integrin Subunit Alpha 7	Protein Coding	5.33	DISEASES inferred ¹⁵
50	SGCG	Sarcoglycan Gamma	Protein Coding	5.33	DISEASES inferred ¹⁵

Sources

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_564del	deletion	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>C	SNV	Pathogenic	538720	rs766648827	9:134385196-134385196	9:131509809-131509809
7	POMT1	NM_001077365.2(POMT1):c.699+62del	deletion	Pathogenic	538723	rs1356791510	9:134385445-134385445	9:131510058-131510058
8	FKTN	NC_000009.12:g.(?_105546358)_(105620061_?)del	deletion	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_?)del	deletion	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_?)del	deletion	Pathogenic	831068		9:108337304-108337428
22	FKTN	NC_000009.12:g.(?_105606576)_(105641128_?)del	deletion	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

Sources

Expression for Walker-Warburg Syndrome

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

Sources

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	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.65	RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
2	Metabolism of proteins ⁶⁵ Show member pathways Post-translational protein modification ⁶⁵	13.49	POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE1
3	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	12.53	LAMB2 LAMA2 DMD DAG1 COL4A1
4	MET promotes cell motility ⁶⁵ Show member pathways Alpha 6 Beta 4 signaling pathway ¹ Laminin interactions ⁶⁵ MET activates PTK2 signaling ⁶⁵ MET activates RAP1 and RAC1 ⁶⁵ MET activates RAS signaling ⁶⁵ MET interacts with TNS proteins ⁶⁵ MET Receptor Activation ⁶⁵ MET receptor recycling ⁶⁵ Non-integrin membrane-ECM interactions ⁶⁵ Signaling by MET ⁶⁵ Syndecan interactions ⁶⁵	12.27	LAMB2 LAMA2 DMD DAG1
5	Dilated cardiomyopathy (DCM) ³⁶ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁶	12	SGCA LAMA2 DMD DAG1
6	O-linked glycosylation ⁶⁵ Show member pathways O-linked glycosylation of mucins ⁶⁵	11.92	POMT2 POMT1 POMK POMGNT2 POMGNT1 LARGE1
7	ECM-receptor interaction ³⁶ Show member pathways Integrin cell surface interactions ⁶⁵	11.9	LAMB2 LAMA2 DAG1 COL4A1
8	Blood-Brain Barrier: Anatomy ⁶⁴ Show member pathways Blood-Brain Barrier and Immune Cell Transmigration: Overview ⁶⁴	11.86	LAMB2 DAG1 COL4A1
9	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁶ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹	11.85	SGCA LAMA2 DMD DAG1
10	Amoebiasis ³⁶	11.71	LAMB2 LAMA2 COL4A1
11	Small cell lung cancer ³⁶	11.63	LAMB2 LAMA2 COL4A1
12	ECM proteoglycans ⁶⁵	11.39	LAMB2 LAMA2 DAG1
13	Mannose type O-glycan biosynthesis ³⁶	10.76	RXYLT1 POMT2 POMT1 POMK POMGNT2 POMGNT1
14	Muscular Dystrophies and Dystrophin-Glycoprotein Complex ⁶³	10.71	LAMA2 DMD DAG1

Sources

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

Sources for Walker-Warburg Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Walker-Warburg Syndrome (WWS)

Aliases & Classifications for Walker-Warburg Syndrome

MalaCards integrated aliases for Walker-Warburg Syndrome:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Walker-Warburg Syndrome

Related Diseases for Walker-Warburg Syndrome

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

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

Symptoms & Phenotypes for Walker-Warburg Syndrome

Human phenotypes related to Walker-Warburg Syndrome:

UMLS symptoms related to Walker-Warburg Syndrome:

MGI Mouse Phenotypes related to Walker-Warburg Syndrome:

Drugs & Therapeutics for Walker-Warburg Syndrome

Interventional clinical trials:

Cochrane evidence based reviews: walker-warburg syndrome

Genetic Tests for Walker-Warburg Syndrome

Genetic tests related to Walker-Warburg Syndrome:

Anatomical Context for Walker-Warburg Syndrome

MalaCards organs/tissues related to Walker-Warburg Syndrome:

Publications for Walker-Warburg Syndrome

Articles related to Walker-Warburg Syndrome:

Genes for Walker-Warburg Syndrome

Genes related to Walker-Warburg Syndrome (14 elite genes):

Variations for Walker-Warburg Syndrome

ClinVar genetic disease variations for Walker-Warburg Syndrome:

Copy number variations for Walker-Warburg Syndrome from CNVD:

Expression for Walker-Warburg Syndrome

Pathways for Walker-Warburg Syndrome

Pathways related to Walker-Warburg Syndrome according to KEGG:

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

GO Terms for Walker-Warburg Syndrome

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

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

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

Sources for Walker-Warburg Syndrome