MCID: MSC101
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type a, 7 malady

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

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 7 49 11 65
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A7 67 24
Muscle-Eye-Brain Disease Ispd-Related 67
 
Walker-Warburg Syndrome Ispd-Related 67
Mddga7 67

Characteristics:

HPO:

61
muscular dystrophy-dystroglycanopathy , type a, 7:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 614643
MeSH36 D058494
UMLS65 C3553330

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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OMIM:49 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more... (614643) more...

MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type a, 7, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a7, is related to ispd-related muscle diseases, and has symptoms including hydrocephalus, macrocephaly and retrognathia. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 7 is ISPD (Isoprenoid Synthase Domain Containing). Affiliated tissues include eye and brain.

UniProtKB/Swiss-Prot:67 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease.

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

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Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

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, 9
muscular dystrophy-dystroglycanopathy , type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ispd-related muscle diseases11.7

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 hydrocephalus HP:0000238
2 macrocephaly HP:0000256
3 retrognathia HP:0000278
4 low-set ears HP:0000369
5 deeply set eye HP:0000490
6 glaucoma HP:0000501
7 cataract HP:0000518
8 retinal detachment HP:0000541
9 microphthalmia HP:0000568
10 optic nerve hypoplasia HP:0000609
11 peters anomaly HP:0000659
12 adducted thumb HP:0001181
13 muscular hypotonia HP:0001252
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 remnants of the hyaloid vascular system HP:0007968
30 retinal dysplasia HP:0007973
31 microtia HP:0008551

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

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Interventional clinical trials:

Search ClinicalTrials, 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:

33
Eye, Brain

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

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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:

67
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:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_001101426.3(ISPD): c.1120-1G> Tsingle nucleotide variantPathogenicrs397515396GRCh37Chr 7, 16255823: 16255823
2ISPDNM_001101426.3(ISPD): 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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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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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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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