MCID: WLK001
MIFTS: 56

Walker-Warburg Syndrome malady

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

Aliases & Classifications for Walker-Warburg Syndrome

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

Aliases & Descriptions for Walker-Warburg Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

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

Summaries for Walker-Warburg Syndrome

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NIH Rare Diseases:45 Walker-warburg syndrome (wws) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. signs and symptoms are typically present at birth and include hypotonia, muscle weakness, developmental delay, intellectual disability and occasional seizures. it is also associated with lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities, and other abnormalities. most children do not survive beyond the age of three years. it may be caused by mutations in any of several genes including the pomt1, pomt2 and fkrp genes, although in many individuals the genetic cause is unknown. wws is inherited in an autosomal recessive manner. no specific treatment is available; management is generally supportive and preventive. last updated: 3/23/2011

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

Genetics Home Reference:23 Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. Because of the severity of the problems caused by Walker-Warburg syndrome, most affected individuals do not survive past age 3.

Related Diseases for Walker-Warburg Syndrome

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

(show top 50)    (show all 148)
idRelated DiseaseScoreTop Affiliating Genes
1palmer pagon syndrome12.4
2muscular dystrophy-dystroglycanopathy , type a, 112.1
3muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1112.0
4muscular dystrophy-dystroglycanopathy , type a, 311.9
5muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 811.9
6muscular dystrophy-dystroglycanopathy , type a, 911.9
7muscular dystrophy-dystroglycanopathy , type a, 711.9
8muscular dystrophy-dystroglycanopathy , type a, 1211.9
9muscular dystrophy-dystroglycanopathy , type a, 411.9
10muscular dystrophy-dystroglycanopathy , type a, 1311.9
11muscular dystrophy-dystroglycanopathy , type a, 1011.9
12muscular dystrophy-dystroglycanopathy , type a, 211.9
13muscular dystrophy-dystroglycanopathy , type a, 511.9
14muscular dystrophy-dystroglycanopathy , type a, 611.9
15muscular dystrophy-dystroglycanopathy , type a, 1411.9
16congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1011.5
17congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1211.5
18congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1311.5
19congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 1411.5
20fkrp-related muscle diseases11.5
21arthritis10.6
22muscular dystrophy, congenital, merosin-positive10.6
23muscular dystrophy-dystroglycanopathy , type b, 110.6
24muscular dystrophy-dystroglycanopathy , type c, 110.6
25hepatitis10.6
26thyroiditis10.6
27schizophrenia10.5
28rheumatoid arthritis10.5
29lung cancer10.5
30hiv-110.5
31sarcoma10.5
32tetanus10.5
33obstructive jaundice10.5
34astrocytoma10.5
35neuropathy10.5
36muscular dystrophy10.5
37endotheliitis10.5
38aldosterone-producing adenoma with seizures and neurological abnormalities10.4FKRP, FKTN, ISPD, POMT1
39aicardi-goutieres syndrome 310.4B3GNT2, B4GAT1
40glycogen storage disease 0, muscle10.4FKRP, LAMA2, POMGNT2
41periventricular nodular heterotopia10.3FKRP, FKTN, ISPD, TMEM5
42lmna-related muscle diseases10.3DMD, FKRP, SGCA
43myocardial infarction10.3
44alternating hemiplegia of childhood10.3
45hepatitis c virus10.3
46renal cell carcinoma10.3
47adenomatous polyposis coli10.3
48liebenberg syndrome10.3
49psoriatic arthritis10.3
50tetralogy of fallot10.3

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
2MRI on Persons With Mutations in POMT2 Gene (LGMD2N)RecruitingNCT02759302

Search NIH Clinical Center for Walker-Warburg Syndrome

Genetic Tests for Walker-Warburg Syndrome

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Genetic tests related to Walker-Warburg Syndrome:

id Genetic test Affiliating Genes
1 Walker-Warburg Syndrome22

Anatomical Context for Walker-Warburg Syndrome

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MalaCards organs/tissues related to Walker-Warburg Syndrome:

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

Animal Models for Walker-Warburg Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Walker-Warburg Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.6COL4A1, DAG1, DMD, FKRP, LAMB2, LARGE
2MP:00053829.4B3GNT2, FKRP, LAMA2, LARGE, POMGNT1, POMK
3MP:00053698.7B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
4MP:00053768.6COL4A1, DAG1, DMD, FKRP, FKTN, LAMA2
5MP:00053868.5B3GNT2, B4GAT1, COL4A1, DAG1, DMD, FKRP
6MP:00053878.5B3GNT2, B4GAT1, DMD, FKRP, FKTN, LAMA2
7MP:00053848.1B3GNT2, B4GAT1, COL4A1, DAG1, DMD, FKRP
8MP:00036318.0B3GNT2, B4GAT1, COL4A1, DAG1, DMD, FKRP
9MP:00107688.0B4GAT1, COL4A1, DAG1, DMD, FKRP, FKTN
10MP:00053787.8B3GNT2, COL4A1, DAG1, DMD, FKRP, FKTN

Publications for Walker-Warburg Syndrome

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Articles related to Walker-Warburg Syndrome:

(show top 50)    (show all 119)
idTitleAuthorsYear
1
Ten Years of Routine I+- and I^-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations. (26635043)
2016
2
PAX1 Methylation Hallmarks Promising Accuracy for Cervical Cancer Screening in Asians: Results from a Meta-Analysis. (26642709)
2015
3
Disseminated idiopathic skeletal hyperostosis: diagnostic criteria and clinical significance. (24948172)
2014
4
Childhood abuse, adult interpersonal abuse, and depression in individuals with extreme obesity. (24412223)
2014
5
Neuromyelitis optica spectrum disorder and SjAPgren syndrome are overlapping disorders and participate in the same autoimmunity context? (25098472)
2014
6
Risk of venous and arterial thrombosis according to type of antiphospholipid antibodies in adults without systemic lupus erythematosus: A systematic review and meta-analysis. (24418303)
2014
7
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. (24415674)
2014
8
Large serrated polyp with KRAS mutation in inflammatory bowel disease: a "nondysplastic dysplasia-associated lesion or mass (DALM)"? (23945926)
2013
9
Significance of Anti-retinal Autoantibodies in Cancer-associated Retinopathy with Gynecological Cancers. (24672741)
2013
10
Extracorporeal cardiac shock wave therapy ameliorates myocardial fibrosis by decreasing the amount of fibrocytes after acute myocardial infarction in pigs. (23839111)
2013
11
Risk factors for development of full-thickness macular holes after pars plana vitrectomy for myopic foveoschisis. (23522356)
2013
12
Preventing the preventable through effective surveillance: the case of diphtheria in a rural district of Maharashtra, India. (23566309)
2013
13
Is there a relation between hemicrania continua and leprosy? (23720896)
2012
14
Transducin-like enhancer protein 1 mediates estrogen receptor binding and transcriptional activity in breast cancer cells. (21536917)
2012
15
Differential regulation of JAMM domain deubiquitinating enzyme activity within the RAP80 complex. (20656689)
2010
16
SIK2 is a centrosome kinase required for bipolar mitotic spindle formation that provides a potential target for therapy in ovarian cancer. (20708153)
2010
17
Ferroportin (SLC40A1) Q248H mutation is associated with lower circulating plasma tumor necrosis factor-alpha and macrophage migration inhibitory factor concentrations in African children. (20460119)
2010
18
The pharmacological chaperone effect of N-octyl-beta-valienamine on human mutant acid beta-glucosidases. (19857976)
2010
19
CCL3L1 copy number is a strong genetic determinant of HIV seropositivity in Caucasian intravenous drug users. (20095832)
2010
20
Combined endoscopic transnasal and transoral excision of a rare nasopharyngeal pleomorphic adenoma: case report and review of the literature. (19442355)
2009
21
Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries. (19283415)
2009
22
The concept of the epilepsy syndrome: how useful is it in clinical practice? (19469838)
2009
23
Recent advances of multiple sclerosis research in Japan]. (19928684)
2009
24
A clinical profile of fibrocalculous pancreatic diabetes patients from eastern India with special reference to body fat percentage and insulin resistance. (20469780)
2009
25
Mechanism of tyrosinase inhibition by deoxyArbutin and its second-generation derivatives. (18811684)
2008
26
Recombinant human keratinocyte growth factor palifermin reduces oral mucositis and improves patient outcomes after stem cell transplant. (17728847)
2007
27
Right aortic coarctation and ventricular septal defect: an unusual cause of tracheal compression in infancy. (18377543)
2006
28
Invasion and metastasis in colorectal cancer: epithelial-mesenchymal transition, mesenchymal-epithelial transition, stem cells and beta-catenin. (15942193)
2005
29
Botulinum toxin A versus bupivacaine trigger point injections for the treatment of myofascial pain syndrome: a randomised double blind crossover study. (16202527)
2005
30
Simultaneous measurement of 25 inflammatory markers and neurotrophins in neonatal dried blood spots by immunoassay with xMAP technology. (16081507)
2005
31
Postoperative epidural anesthesia preserves lymphocyte, but not monocyte, immune function after major spine surgery. (15041604)
2004
32
Effect of a tyrosine kinase inhibitor STI571 in a patient with hepatic metastases from a duodenal gastrointestinal stromal tumor. (12898363)
2003
33
UNC5H1 induces apoptosis via its juxtamembrane region through an interaction with NRAGE. (12598531)
2003
34
Involvement of the mitochondrial pathway in cold storage and rewarming-associated apoptosis of human renal proximal tubular cells. (12614281)
2003
35
Metabolism of capecitabine, an oral fluorouracil prodrug: (19)F NMR studies in animal models and human urine. (12386128)
2002
36
The effects of sustained delivery of growth promoting hormones on the proliferation of MG63 cells in culture. (11347401)
2001
37
Abnormalities of the E-cadherin/catenin adhesion complex in classical papillary thyroid carcinoma and in its diffuse sclerosing variant. (11439369)
2001
38
Superior sagittal sinus thrombosis secondary to hyperthyroidism. (17895204)
2000
39
Human urotensin-II is a potent vasoconstrictor and agonist for the orphan receptor GPR14. (10499587)
1999
40
In vivo cerebral proton MRS in a case of subacute sclerosing panencephalitis. (10201438)
1999
41
Molecular cloning, purification and in situ localization of human colon kallikrein. (7733886)
1995
42
Expression of CD34 in endothelial cells, hematopoietic progenitors and nervous cells in fetal and adult mouse tissues. (7542195)
1995
43
Influence of digoxin-like immunoreactive factor on late complications in patients with diabetes mellitus. (7957506)
1994
44
Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiency. (7609464)
1993
45
Modulation of cell surface molecules during HIV-1 infection of H9 cells. An immunoelectron microscopic study. (1466841)
1992
46
Characterization of two new members of the pregnancy-specific beta 1- glycoprotein family from the myeloid cell line KG-1 and suggestion of two distinct classes of transcription unit. (2271648)
1990
47
Ulnar agenesis and endocardial fibroelastosis. (2248295)
1990
48
Thyroid lymphoma. (2804581)
1989
49
Myxedema coma. (4093407)
1985
50
Osteo-periostitis of Left Tibia (Congenital Syphilitic). (19975659)
1912

Variations for Walker-Warburg Syndrome

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Clinvar genetic disease variations for Walker-Warburg Syndrome:

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

Expression for genes affiliated with Walker-Warburg Syndrome

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

Pathways for genes affiliated with Walker-Warburg Syndrome

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GO Terms for genes affiliated with Walker-Warburg Syndrome

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

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

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

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

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

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

Sources for Walker-Warburg Syndrome

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