MCID: MSC101
MIFTS: 30

Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 7 54 13 69
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A7 29
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A7 71
Muscle-Eye-Brain Disease Ispd-Related 71
Walker-Warburg Syndrome Ispd-Related 71
Mddga7 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
severe phenotype
onset prenatally or at birth
most patients die in first years of life


HPO:

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


Classifications:



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 severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (614643)

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

UniProtKB/Swiss-Prot : 71 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 10.8

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
ventriculomegaly
hydrocephalus
mental retardation, profound
cerebellar hypoplasia
more
Head And Neck- Eyes:
retinal detachment
cataracts
microphthalmia
glaucoma
peters anomaly
more
Laboratory- Abnormalities:
increased serum creatine kinase

Head And Neck- Head:
frontal bossing
macrocephaly

Skeletal- Hands:
adducted thumbs

Abdomen:
visceral malformations (in some patients)

Muscle Soft Tissue:
hypotonia
muscular dystrophy
disruption in the basal lamina seen on skeletal muscle biopsy
defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy

Head And Neck- Ears:
low-set ears
small ears

Head And Neck- Face:
retrognathia

Neurologic- Peripheral Nervous System:
areflexia

Prenatal Manifestations- Movement:
decreased fetal movements

Skeletal- Limbs:
limb deformations (in some patients)


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

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:

71
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
8 ISPD p.Arg205His VAR_078949 rs566179705

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 GRCh37 Chromosome 7, 16460947: 16460947

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
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
44 MGI
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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