MDDGA7
MCID: MSC101
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type a, 7 (MDDGA7) malady

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Rare diseases, Metabolic diseases, Fetal diseases, Eye 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 52 12 68
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A7 70 27
Muscle-Eye-Brain Disease Ispd-Related 70
 
Walker-Warburg Syndrome Ispd-Related 70
Mddga7 70

Characteristics:

HPO:

64
muscular dystrophy-dystroglycanopathy , type a, 7:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614643
MeSH39 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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OMIM:52 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 muscular dystrophy-dystroglycanopathy , type a, 1, 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:70 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 diseases11.2
2muscular dystrophy-dystroglycanopathy , type a, 110.9

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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Symptoms by clinical synopsis from OMIM:

614643

Clinical features from OMIM:

614643

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

 64 (show all 31)
id Description HPO Frequency HPO Source Accession
1 hydrocephalus64 HP:0000238
2 macrocephaly64 HP:0000256
3 retrognathia64 HP:0000278
4 low-set ears64 HP:0000369
5 deeply set eye64 HP:0000490
6 glaucoma64 HP:0000501
7 cataract64 HP:0000518
8 retinal detachment64 HP:0000541
9 microphthalmia64 HP:0000568
10 optic nerve hypoplasia64 HP:0000609
11 peters anomaly64 HP:0000659
12 adducted thumb64 HP:0001181
13 muscular hypotonia64 HP:0001252
14 areflexia64 HP:0001284
15 pachygyria64 HP:0001302
16 dandy-walker malformation64 HP:0001305
17 cerebellar hypoplasia64 HP:0001321
18 partial agenesis of the corpus callosum64 HP:0001338
19 decreased fetal movement64 HP:0001558
20 frontal bossing64 HP:0002007
21 hypoplasia of the corpus callosum64 HP:0002079
22 encephalocele64 HP:0002084
23 polymicrogyria64 HP:0002126
24 intellectual disability, profound64 HP:0002187
25 hypoplasia of the brainstem64 HP:0002365
26 elevated serum creatine phosphokinase64 HP:0003236
27 muscular dystrophy64 HP:0003560
28 type ii lissencephaly64 HP:0007260
29 remnants of the hyaloid vascular system64 HP:0007968
30 retinal dysplasia64 HP:0007973
31 microtia64 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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Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A727

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

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

36
Eye, Brain

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:

70
id Symbol AA change Variation ID SNP ID
1ISPDp.Ala122ProVAR_068101rs387907162
2ISPDp.Arg126HisVAR_068102rs752817129
3ISPDp.Ala216AspVAR_068103rs387907160
4ISPDp.Asp156AsnVAR_069741rs397514547
5ISPDp.Met213ArgVAR_069742rs397515408
6ISPDp.Tyr226HisVAR_069743
7ISPDp.Thr238IleVAR_069744rs397515409

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

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1ISPDNM_ 001101426.3(ISPD): c.643C> T (p.Gln215Ter)SNVPathogenicrs370627877GRCh37Chr 7, 16415758: 16415758
2ISPDNM_ 001101426.3(ISPD): c.1186G> T (p.Glu396Ter)SNVPathogenicrs886042554GRCh37Chr 7, 16255756: 16255756
3ISPDNM_ 001101426.3(ISPD): c.1A> T (p.Met1Leu)SNVPathogenicrs886043573GRCh38Chr 7, 16421322: 16421322
4ISPDNM_ 001101426.3(ISPD): c.1120-1G> TSNVPathogenicrs397515396GRCh37Chr 7, 16255823: 16255823
5ISPDNM_ 001101426.3(ISPD): c.(535_ 684)+6399_ (535_ 684)+14526deldeletionPathogenicGRCh37Chr 7, 16401191: 16431594
6ISPDNM_ 001101426.3(ISPD): c.789+2T> GSNVPathogenicrs397515397GRCh37Chr 7, 16348146: 16348146
7ISPDNM_ 001101426.3(ISPD): c.647C> A (p.Ala216Asp)SNVPathogenicrs387907160GRCh37Chr 7, 16415754: 16415754
8ISPDNM_ 001101426.3(ISPD): c.832A> T (p.Lys278Ter)SNVPathogenicrs387907161GRCh37Chr 7, 16341049: 16341049
9ISPDNM_ 001101426.3(ISPD): c.364G> C (p.Ala122Pro)SNVPathogenicrs387907162GRCh37Chr 7, 16445856: 16445856
10ISPDNM_ 001101426.3(ISPD): c.802C> T (p.Arg268Ter)SNVPathogenicrs368593151GRCh37Chr 7, 16341079: 16341079
11ISPDNM_ 001101426.3(ISPD): c.638T> G (p.Met213Arg)SNVPathogenicrs397515408GRCh37Chr 7, 16415763: 16415763
12ISPDNM_ 001101426.3(ISPD): c.535-?_ 933+?deldeletionPathogenicGRCh37Chr 7, 16317753: 16415867
13ISPDNM_ 001101426.3(ISPD): c.466G> A (p.Asp156Asn)SNVPathogenicrs397514547GRCh37Chr 7, 16445754: 16445754
14ISPDNM_ 001101426.3(ISPD): c.256A> T (p.Arg86Ter)SNVPathogenicrs397514548GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet