MCID: MSC101
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Categories: Genetic diseases, Muscle diseases, Rare diseases, Fetal diseases, Neuronal diseases, Metabolic diseases, Mental 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 53 13 69
Mddga7 53 71
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A7 28
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A7 71
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Ispd-Related 53
Muscle-Eye-Brain Disease Ispd-Related 71
Walker-Warburg Syndrome Ispd-Related 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 7:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

OMIM : 53 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, is also known as mddga7, 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, 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, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 9

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
macrocephaly
frontal bossing

Neurologic Central Nervous System:
hydrocephalus
ventriculomegaly
cerebellar hypoplasia
pachygyria
partial agenesis of the corpus callosum
more
Head And Neck Eyes:
optic nerve hypoplasia
microphthalmia
glaucoma
retinal detachment
retinal dysplasia
more
Muscle Soft Tissue:
muscular dystrophy
hypotonia
disruption in the basal lamina seen on skeletal muscle biopsy
defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy

Laboratory Abnormalities:
increased serum creatine kinase

Abdomen:
visceral malformations (in some patients)

Head And Neck Ears:
low-set ears
small ears

Head And Neck Face:
retrognathia

Neurologic Peripheral Nervous System:
areflexia

Skeletal Hands:
adducted thumbs

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:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 low-set ears 31 HP:0000369
3 frontal bossing 31 HP:0002007
4 hydrocephalus 31 HP:0000238
5 cataract 31 HP:0000518
6 microtia 31 HP:0008551
7 elevated serum creatine phosphokinase 31 HP:0003236
8 retrognathia 31 HP:0000278
9 optic nerve hypoplasia 31 HP:0000609
10 cerebellar hypoplasia 31 HP:0001321
11 microphthalmia 31 HP:0000568
12 deeply set eye 31 HP:0000490
13 glaucoma 31 HP:0000501
14 retinal detachment 31 HP:0000541
15 retinal dysplasia 31 HP:0007973
16 areflexia 31 HP:0001284
17 intellectual disability, profound 31 HP:0002187
18 adducted thumb 31 HP:0001181
19 decreased fetal movement 31 HP:0001558
20 pachygyria 31 HP:0001302
21 partial agenesis of the corpus callosum 31 HP:0001338
22 polymicrogyria 31 HP:0002126
23 dandy-walker malformation 31 HP:0001305
24 encephalocele 31 HP:0002084
25 muscular dystrophy 31 HP:0003560
26 hypoplasia of the corpus callosum 31 HP:0002079
27 generalized hypotonia 31 HP:0001290
28 peters anomaly 31 HP:0000659
29 type ii lissencephaly 31 HP:0007260
30 hypoplasia of the brainstem 31 HP:0002365
31 remnants of the hyaloid vascular system 31 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:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A7 28 ISPD

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

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

38
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
# 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 18)
# 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
15 ISPD NM_001101426.3(ISPD): c.258-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs767978961 GRCh37 Chromosome 7, 16445963: 16445963
16 ISPD NC_000007.13: g.(?_16341026)_(16348272_?)del deletion Pathogenic GRCh37 Chromosome 7, 16341026: 16348272
17 ISPD NC_000007.14: g.(?_16406061)_(16406337_?)del deletion Pathogenic GRCh38 Chromosome 7, 16406061: 16406337
18 ISPD NM_001101426.3(ISPD): c.874_886delGAAGAAGATAACA (p.Glu292Asnfs) deletion Pathogenic GRCh37 Chromosome 7, 16317801: 16317813

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....