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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 7 54 13 69
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A7 66 29
Muscle-Eye-Brain Disease Ispd-Related 66
Walker-Warburg Syndrome Ispd-Related 66
Mddga7 66

Characteristics:

HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614643
MeSH 42 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

OMIM : 54 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 macrocephaly, low-set ears and frontal bossing. 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 : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 ispd-related muscle diseases 11.2
2 muscular dystrophy-dystroglycanopathy , type a, 1 10.9

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

Symptoms by clinical synopsis from OMIM:

614643

Clinical features from OMIM:

614643

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

32 (show all 31)
id Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 low-set ears 32 HP:0000369
3 frontal bossing 32 HP:0002007
4 hydrocephalus 32 HP:0000238
5 muscular hypotonia 32 HP:0001252
6 cataract 32 HP:0000518
7 microtia 32 HP:0008551
8 elevated serum creatine phosphokinase 32 HP:0003236
9 retrognathia 32 HP:0000278
10 optic nerve hypoplasia 32 HP:0000609
11 cerebellar hypoplasia 32 HP:0001321
12 microphthalmia 32 HP:0000568
13 deeply set eye 32 HP:0000490
14 glaucoma 32 HP:0000501
15 retinal detachment 32 HP:0000541
16 retinal dysplasia 32 HP:0007973
17 areflexia 32 HP:0001284
18 intellectual disability, profound 32 HP:0002187
19 adducted thumb 32 HP:0001181
20 decreased fetal movement 32 HP:0001558
21 pachygyria 32 HP:0001302
22 partial agenesis of the corpus callosum 32 HP:0001338
23 polymicrogyria 32 HP:0002126
24 dandy-walker malformation 32 HP:0001305
25 encephalocele 32 HP:0002084
26 muscular dystrophy 32 HP:0003560
27 hypoplasia of the corpus callosum 32 HP:0002079
28 peters anomaly 32 HP:0000659
29 type ii lissencephaly 32 HP:0007260
30 hypoplasia of the brainstem 32 HP:0002365
31 remnants of the hyaloid vascular system 32 HP:0007968

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

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

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

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 A7 29

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

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

39
Eye, Brain

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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

66
id Symbol AA change Variation ID SNP ID
1 ISPD p.Ala122Pro VAR_068101 rs387907162
2 ISPD p.Arg126His VAR_068102 rs752817129
3 ISPD p.Ala216Asp VAR_068103 rs387907160
4 ISPD p.Asp156Asn VAR_069741 rs397514547
5 ISPD p.Met213Arg VAR_069742 rs397515408
6 ISPD p.Tyr226His VAR_069743
7 ISPD p.Thr238Ile VAR_069744 rs397515409

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

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 ISPD NM_001101426.3(ISPD): c.1120-1G> T single nucleotide variant Pathogenic rs397515396 GRCh37 Chromosome 7, 16255823: 16255823
2 ISPD NM_001101426.3(ISPD): c.(535_684)+6399_(535_684)+14526del deletion Pathogenic GRCh37 Chromosome 7, 16401191: 16431594
3 ISPD NM_001101426.3(ISPD): c.789+2T> G single nucleotide variant Pathogenic rs397515397 GRCh37 Chromosome 7, 16348146: 16348146
4 ISPD NM_001101426.3(ISPD): c.647C> A (p.Ala216Asp) single nucleotide variant Pathogenic rs387907160 GRCh37 Chromosome 7, 16415754: 16415754
5 ISPD NM_001101426.3(ISPD): c.832A> T (p.Lys278Ter) single nucleotide variant Pathogenic rs387907161 GRCh37 Chromosome 7, 16341049: 16341049
6 ISPD NM_001101426.3(ISPD): c.364G> C (p.Ala122Pro) single nucleotide variant Pathogenic rs387907162 GRCh37 Chromosome 7, 16445856: 16445856
7 ISPD NM_001101426.3(ISPD): c.802C> T (p.Arg268Ter) single nucleotide variant Pathogenic rs368593151 GRCh37 Chromosome 7, 16341079: 16341079
8 ISPD NM_001101426.3(ISPD): c.638T> G (p.Met213Arg) single nucleotide variant Pathogenic rs397515408 GRCh37 Chromosome 7, 16415763: 16415763
9 ISPD NM_001101426.3(ISPD): c.535-?_933+?del deletion Pathogenic GRCh37 Chromosome 7, 16317753: 16415867
10 ISPD NM_001101426.3(ISPD): c.466G> A (p.Asp156Asn) single nucleotide variant Pathogenic rs397514547 GRCh37 Chromosome 7, 16445754: 16445754
11 ISPD NM_001101426.3(ISPD): c.256A> T (p.Arg86Ter) single nucleotide variant Pathogenic rs397514548 GRCh37 Chromosome 7, 16460692: 16460692
12 ISPD NM_001101426.3(ISPD): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs370627877 GRCh37 Chromosome 7, 16415758: 16415758
13 ISPD NM_001101426.3(ISPD): c.1186G> T (p.Glu396Ter) single nucleotide variant Pathogenic rs886042554 GRCh37 Chromosome 7, 16255756: 16255756
14 ISPD NM_001101426.3(ISPD): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs886043573 GRCh38 Chromosome 7, 16421322: 16421322

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....