MCID: MSC101
MIFTS: 17

Muscular Dystrophy-Dystroglycanopathy , Type a, 7 malady

Genetic diseases, Muscle diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type a, 7 and has symptoms including An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 7 is ISPD (isoprenoid synthase domain containing). Affiliated tissues include eye and brain, and related mouse phenotype mortality/aging.

Description from OMIM:46 614643

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

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Muscular Dystrophy-Dystroglycanopathy , Type a, 7, Aliases & Descriptions:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 7 46


Classifications:



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

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Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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Symptoms by clinical synopsis from OMIM:

614643

Clinical features from OMIM:

614643

HPO human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

(show all 31)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hydrocephalus HP:0000238
3 macrocephaly HP:0000256
4 retrognathia HP:0000278
5 low-set ears HP:0000369
6 deeply set eye HP:0000490
7 glaucoma HP:0000501
8 cataract HP:0000518
9 retinal detachment HP:0000541
10 microphthalmos HP:0000568
11 optic nerve hypoplasia HP:0000609
12 peters anomaly HP:0000659
13 adducted thumb HP:0001181
14 areflexia HP:0001284
15 pachygyria HP:0001302
16 dandy-walker malformation HP:0001305
17 cerebellar hypoplasia HP:0001321
18 partial agenesis of the corpus callosum HP:0001338
19 decreased fetal movement HP:0001558
20 frontal bossing HP:0002007
21 hypoplasia of the corpus callosum HP:0002079
22 encephalocele HP:0002084
23 polymicrogyria HP:0002126
24 intellectual disability, profound HP:0002187
25 hypoplasia of the brainstem HP:0002365
26 elevated serum creatine phosphokinase HP:0003236
27 muscular dystrophy HP:0003560
28 type ii lissencephaly HP:0007260
29 persistent hyperplastic primary vitreous HP:0007968
30 retinal dysplasia HP:0007973
31 microtia HP:0008551

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

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Drug clinical trials:

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

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:

32
Eye, Brain

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107689.1RAD51C, ISPD

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

64
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:

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

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

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet