MCID: MSC101
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type a, 7 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 51 12 67
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A7 69 26
Muscle-Eye-Brain Disease Ispd-Related 69
 
Walker-Warburg Syndrome Ispd-Related 69
Mddga7 69

Characteristics:

HPO:

63
muscular dystrophy-dystroglycanopathy , type a, 7:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 614643
MeSH38 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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OMIM:51 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:69 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 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:

 63 (show all 31)
id Description HPO Frequency HPO Source Accession
1 hydrocephalus63 HP:0000238
2 macrocephaly63 HP:0000256
3 retrognathia63 HP:0000278
4 low-set ears63 HP:0000369
5 deeply set eye63 HP:0000490
6 glaucoma63 HP:0000501
7 cataract63 HP:0000518
8 retinal detachment63 HP:0000541
9 microphthalmia63 HP:0000568
10 optic nerve hypoplasia63 HP:0000609
11 peters anomaly63 HP:0000659
12 adducted thumb63 HP:0001181
13 muscular hypotonia63 HP:0001252
14 areflexia63 HP:0001284
15 pachygyria63 HP:0001302
16 dandy-walker malformation63 HP:0001305
17 cerebellar hypoplasia63 HP:0001321
18 partial agenesis of the corpus callosum63 HP:0001338
19 decreased fetal movement63 HP:0001558
20 frontal bossing63 HP:0002007
21 hypoplasia of the corpus callosum63 HP:0002079
22 encephalocele63 HP:0002084
23 polymicrogyria63 HP:0002126
24 intellectual disability, profound63 HP:0002187
25 hypoplasia of the brainstem63 HP:0002365
26 elevated serum creatine phosphokinase63 HP:0003236
27 muscular dystrophy63 HP:0003560
28 type ii lissencephaly63 HP:0007260
29 remnants of the hyaloid vascular system63 HP:0007968
30 retinal dysplasia63 HP:0007973
31 microtia63 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 A726

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

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

35
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:

69
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 16)
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)SNVPathogenicrs886043573GRCh37Chr 7, 16460947: 16460947
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.277_279delATT (p.Ile93del)deletionPathogenicrs397515398GRCh37Chr 7, 16445941: 16445943
8ISPDNM_001101426.3(ISPD): c.647C> A (p.Ala216Asp)SNVPathogenicrs387907160GRCh37Chr 7, 16415754: 16415754
9ISPDNM_001101426.3(ISPD): c.832A> T (p.Lys278Ter)SNVPathogenicrs387907161GRCh37Chr 7, 16341049: 16341049
10ISPDNM_001101426.3(ISPD): c.364G> C (p.Ala122Pro)SNVPathogenicrs387907162GRCh37Chr 7, 16445856: 16445856
11ISPDNM_001101426.3(ISPD): c.802C> T (p.Arg268Ter)SNVPathogenicrs368593151GRCh37Chr 7, 16341079: 16341079
12ISPDNM_001101426.3(ISPD): c.638T> G (p.Met213Arg)SNVPathogenicrs397515408GRCh37Chr 7, 16415763: 16415763
13ISPDNM_001101426.3(ISPD): c.535-?_933+?deldeletionPathogenicGRCh37Chr 7, 16317753: 16415867
14ISPDNM_001101426.3(ISPD): c.466G> A (p.Asp156Asn)SNVPathogenicrs397514547GRCh37Chr 7, 16445754: 16445754
15ISPDNM_001101426.3(ISPD): c.713C> T (p.Thr238Ile)SNVPathogenicrs397515409GRCh37Chr 7, 16348224: 16348224
16ISPDNM_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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet