WWS
MCID: MSC101
MIFTS: 50

Muscular Dystrophy-Dystroglycanopathy , Type a, 7 (WWS) malady

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

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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48OMIM, 34MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy , Type a, 7, also known as hydrocephalus-agyria-retinal dysplasia syndrome, is related to walker-warburg syndrome and muscular dystrophy, and has symptoms including glaucoma, anophthalmos/anophthalmia/microphthalmos/microphthalmia and megaureter/hydronephrosis/pyeloureteral junction syndrome. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 7 is ISPD (isoprenoid synthase domain containing), and among its related pathways is Other types of O-glycan biosynthesis. The compounds mannose and Dolichyl phosphate D-mannose have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related mouse phenotypes are vision/eye and other.

Description from OMIM:48 614643, 614830, 615041, 615181, 615249 236670, 253280, 253800, 613150, 613153, 613154, 615287 more

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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50Orphanet, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hydrocephalus-agyria-retinal dysplasia syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy , type a, 7 48
hydrocephalus-agyria-retinal dysplasia syndrome 50
hydrocephalus - agyria - retinal dysplasia 50
walker-warburg syndrome 50
hard syndrome 50
wws 50


External Ids:

MESH via Orphanet37 D058494
ICD10 via Orphanet27 Q04.3
SNOMED-CT via Orphanet60 111504002, 91064002

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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18GeneCards, 19GeneDecks
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Diseases in the Muscular Dystrophy-Dystroglycanopathy , Type a, 7 family:

Muscular Dystrophy-Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 4
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1walker-warburg syndrome31.5FKRP, ISPD, LARGE, TMEM5, POMGNT2, POMGNT1
2muscular dystrophy31.3POMT2
3congenital muscular dystrophy31.1LARGE
4limb-girdle muscular dystrophy30.5FKRP, FKTN, POMGNT2
5myopathy30.5FKTN, POMT1, POMGNT1, FKRP
6mental retardation30.5FKTN, POMT1, POMGNT1, FKRP
7duchenne muscular dystrophy30.3POMGNT2, FKTN
8brain disease10.5
9retinitis10.5
10muscle eye brain disease10.5
11neuronitis10.5
12cleft lip10.5
13cleft palate10.5
14hydrocephalus10.5
15retinal detachment10.4
16muscular dystrophy-dystroglycanopathy , type a, 110.4
17encephalocele10.3
18encephaloceles10.3
19breast cancer10.3
20meningocele10.2
21microcephaly10.2
22microphthalmia10.2
23buphthalmos10.2
24cataract10.2
25polyneuropathy10.2
26cerebellar hypoplasia10.2
27microtia10.2
28neuronal migration disorders10.2
29muscular dystrophy-dystroglycanopathy , type a, 310.2
30muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.2
31muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 810.2
32muscular dystrophy-dystroglycanopathy , type a, 1210.2
33muscular dystrophy-dystroglycanopathy , type a, 410.2
34muscular dystrophy-dystroglycanopathy , type b, 110.2
35muscular dystrophy-dystroglycanopathy , type c, 110.2
36muscular dystrophy-dystroglycanopathy , type a, 1310.2
37muscular dystrophy-dystroglycanopathy , type a, 1010.2
38muscular dystrophy-dystroglycanopathy , type a, 210.2
39muscular dystrophy-dystroglycanopathy , type a, 510.2
40muscular dystrophy-dystroglycanopathy , type a, 610.2
41cranial meningocele10.2
42dilated cardiomyopathy10.1FKRP
43muscular dystrophy-dystroglycanopathy , type c, 510.0POMGNT2, FKRP
44intellectual disability10.0POMT1, FKTN, FKRP
45neuropathy10.0FKTN, POMGNT1, POMT1, FKRP
46rett syndrome10.0
47alzheimer's disease10.0
48huntington's disease10.0
49cholangiocarcinoma10.0
50leukemia10.0

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:



Diseases related to muscular dystrophy-dystroglycanopathy  , type a, 7

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

614643

Clinical features from OMIM:

614643, 614830, 615041, 615181, 615249, 236670, 253280, 253800, 613150, 613153 613154, 615287 more

Symptoms:

50 (show all 36)
  • glaucoma
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • dilated cerebral ventricles without hydrocephaly
  • retinal detachment
  • coloboma of iris
  • micropenis/small penis/agenesis
  • dandy-walker anomaly
  • retinal/chorioretinal dysplasia/dystrophy
  • vitreous anomalies/hyalitis/persistent vitreous vascularisation
  • talipes-valgus
  • microcornea
  • encephalocele/exencephaly
  • prominent/bat ears
  • areflexia/hyporeflexia
  • hypotonia
  • hydrocephaly
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • corpus callosum/septum pellucidum total/partial agenesis
  • autosomal recessive inheritance
  • low set ears/posteriorly rotated ears
  • muscle weakness/flaccidity
  • early death/lethality
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • microcephaly
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • cataract/lens opacification
  • corneal clouding/opacity/vascularisation
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

34
Eye, Brain, Testes, Cerebellum

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type a, 7 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.9COL4A1, FKRP, POMGNT1, LARGE
2MP:00053958.6B3GNT1, ISPD, POMGNT1, POMT2, FKTN, COL4A1
3MP:00053828.6LARGE, POMK, POMGNT1, FKRP
4MP:00053698.0LARGE, POMGNT1, POMT1, FKTN, FKRP, COL4A1
5MP:00053787.8LARGE, POMGNT1, POMT2, FKTN, FKRP, COL4A1
6MP:00053867.7LARGE, POMK, POMGNT1, FKTN, FKRP, COL4A1
7MP:00053847.7ISPD, POMK, POMGNT1, POMT2, FKTN, FKRP
8MP:00107687.3ISPD, LARGE, POMGNT1, POMT2, POMT1, FKTN
9MP:00036317.2ISPD, LARGE, POMK, POMGNT1, POMT2, FKTN

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

65
id Symbol AA change Variation ID SNP ID
1ISPDp.Ala122ProVAR_068101
2ISPDp.Arg126HisVAR_068102
3ISPDp.Ala216AspVAR_068103
4ISPDp.Asp156AsnVAR_069741
5ISPDp.Met213ArgVAR_069742
6ISPDp.Tyr226HisVAR_069743
7ISPDp.Thr238IleVAR_069744

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1NM_001101426.3(ISPD): c.1120-1G> Tsingle nucleotide variantPathogenicrs397515396GRCh37Chr 7, 16255823: 16255823
2ISPDNM_001101426.3: c.(535_684)+6399_(535_684)+14526deldeletionPathogenicGRCh37Chr 7, 16401191: 16431594
3ISPDNM_001101426.3(ISPD): c.789+2T> Gsingle nucleotide variantPathogenicrs397515397GRCh37Chr 7, 16348146: 16348146
4ISPDNM_001101426.3(ISPD): c.277_279delATT (p.Ile93del)deletionPathogenicrs397515398GRCh37Chr 7, 16445941: 16445943
5ISPDNM_001101426.3(ISPD): c.647C> A (p.Ala216Asp)single nucleotide variantPathogenicrs387907160GRCh37Chr 7, 16415754: 16415754
6ISPDNM_001101426.3(ISPD): c.832A> T (p.Lys278Ter)single nucleotide variantPathogenicrs387907161GRCh37Chr 7, 16341049: 16341049
7ISPDNM_001101426.3(ISPD): c.364G> C (p.Ala122Pro)single nucleotide variantPathogenicrs387907162GRCh37Chr 7, 16445856: 16445856
8ISPDNM_001101426.3(ISPD): c.802C> T (p.Arg268Ter)single nucleotide variantPathogenicrs368593151GRCh37Chr 7, 16341079: 16341079
9ISPDNM_001101426.3(ISPD): c.638T> G (p.Met213Arg)single nucleotide variantPathogenicrs397515408GRCh37Chr 7, 16415763: 16415763
10ISPDNM_001101426.3(ISPD): c.535-?_933+?deldeletionPathogenicGRCh37Chr 7, 16317753: 16415867
11ISPDNM_001101426.3(ISPD): c.466G> A (p.Asp156Asn)single nucleotide variantPathogenicrs397514547GRCh37Chr 7, 16445754: 16445754
12ISPDNM_001101426.3(ISPD): c.713C> T (p.Thr238Ile)single nucleotide variantPathogenicrs397515409GRCh37Chr 7, 16348224: 16348224
13ISPDNM_001101426.3(ISPD): c.256A> T (p.Arg86Ter)single nucleotide variantPathogenicrs397514548GRCh37Chr 7, 16460692: 16460692

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type a, 7

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 7.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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51PathCards, 31KEGG
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Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2POMT1, POMT2, POMGNT1

Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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46Novoseek, 25HMDB, 30IUPHAR
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Compounds related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mannose4610.0POMGNT2
2Dolichyl phosphate D-mannose259.7POMT1, POMT2
3dolichol phosphate30 2510.6POMT2, POMT1
4n-acetyllactosamine46 2510.6B3GNT1, POMGNT2
5alpha-d-mannoside469.5POMGNT1, POMGNT2
6manganese46 259.9POMT1, POMT2, POMGNT1

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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17Gene Ontology
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Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of Golgi membraneGO:0301739.7B3GNT1, LARGE
2Golgi membraneGO:0001398.9B3GALNT2, B3GNT1, FKRP, FKTN, POMGNT1
3endoplasmic reticulumGO:0057838.8POMGNT2, POMT1, FKTN, B3GALNT2
4endoplasmic reticulum membraneGO:0057898.2POMT1, POMT2, POMK, POMGNT2
5integral component of membraneGO:0160217.2POMGNT2, POMK, POMGNT1, POMT2, POMT1, FKTN

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axon guidanceGO:0074119.6B3GNT1, COL4A1, ISPD
2glycoprotein biosynthetic processGO:0091019.3FKRP, LARGE
3protein glycosylationGO:0064869.3LARGE, B3GNT1, B3GALNT2
4protein O-linked glycosylationGO:0064938.2B3GALNT2, POMT1, POMGNT1, POMK, POMGNT2

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:0167409.8FKRP, FKTN
2dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:0041699.4POMT1, POMT2
3acetylglucosaminyltransferase activityGO:0083759.0B3GALNT2, POMGNT2, LARGE

Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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  • Antibodies
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  • Lysates
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Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet