MCID: MSC101
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare 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 57 13 73
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A7 29 6
Mddga7 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A7 75
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Ispd-Related 57
Muscle-Eye-Brain Disease Ispd-Related 75
Walker-Warburg Syndrome Ispd-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset prenatally or at birth
severe phenotype
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 : 57 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 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a7. 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, and related phenotypes are macrocephaly and low-set ears

UniProtKB/Swiss-Prot : 75 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:

57
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:

32 (show all 31)
# 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 cataract 32 HP:0000518
6 microtia 32 HP:0008551
7 elevated serum creatine phosphokinase 32 HP:0003236
8 retrognathia 32 HP:0000278
9 optic nerve hypoplasia 32 HP:0000609
10 cerebellar hypoplasia 32 HP:0001321
11 microphthalmia 32 HP:0000568
12 deeply set eye 32 HP:0000490
13 glaucoma 32 HP:0000501
14 retinal detachment 32 HP:0000541
15 retinal dysplasia 32 HP:0007973
16 areflexia 32 HP:0001284
17 intellectual disability, profound 32 HP:0002187
18 adducted thumb 32 HP:0001181
19 decreased fetal movement 32 HP:0001558
20 pachygyria 32 HP:0001302
21 partial agenesis of the corpus callosum 32 HP:0001338
22 polymicrogyria 32 HP:0002126
23 dandy-walker malformation 32 HP:0001305
24 encephalocele 32 HP:0002084
25 muscular dystrophy 32 HP:0003560
26 hypoplasia of the corpus callosum 32 HP:0002079
27 generalized hypotonia 32 HP:0001290
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:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A7 29 ISPD

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

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

41
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:

75
# 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 top 50) (show all 94)
# 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.1120-1G> T single nucleotide variant Pathogenic rs397515396 GRCh38 Chromosome 7, 16216198: 16216198
3 ISPD NM_001101426.3(ISPD): c.(535_684)+6399_(535_684)+14526del deletion Pathogenic GRCh37 Chromosome 7, 16401191: 16431594
4 ISPD NM_001101426.3(ISPD): c.(535_684)+6399_(535_684)+14526del deletion Pathogenic GRCh38 Chromosome 7, 16361566: 16391969
5 ISPD NM_001101426.3(ISPD): c.789+2T> G single nucleotide variant Pathogenic rs397515397 GRCh37 Chromosome 7, 16348146: 16348146
6 ISPD NM_001101426.3(ISPD): c.789+2T> G single nucleotide variant Pathogenic rs397515397 GRCh38 Chromosome 7, 16308521: 16308521
7 ISPD NM_001101426.3(ISPD): c.647C> A (p.Ala216Asp) single nucleotide variant Pathogenic rs387907160 GRCh37 Chromosome 7, 16415754: 16415754
8 ISPD NM_001101426.3(ISPD): c.647C> A (p.Ala216Asp) single nucleotide variant Pathogenic rs387907160 GRCh38 Chromosome 7, 16376129: 16376129
9 ISPD NM_001101426.3(ISPD): c.832A> T (p.Lys278Ter) single nucleotide variant Pathogenic rs387907161 GRCh37 Chromosome 7, 16341049: 16341049
10 ISPD NM_001101426.3(ISPD): c.832A> T (p.Lys278Ter) single nucleotide variant Pathogenic rs387907161 GRCh38 Chromosome 7, 16301424: 16301424
11 ISPD NM_001101426.3(ISPD): c.364G> C (p.Ala122Pro) single nucleotide variant Pathogenic rs387907162 GRCh37 Chromosome 7, 16445856: 16445856
12 ISPD NM_001101426.3(ISPD): c.364G> C (p.Ala122Pro) single nucleotide variant Pathogenic rs387907162 GRCh38 Chromosome 7, 16406231: 16406231
13 ISPD NM_001101426.3(ISPD): c.802C> T (p.Arg268Ter) single nucleotide variant Pathogenic rs368593151 GRCh37 Chromosome 7, 16341079: 16341079
14 ISPD NM_001101426.3(ISPD): c.802C> T (p.Arg268Ter) single nucleotide variant Pathogenic rs368593151 GRCh38 Chromosome 7, 16301454: 16301454
15 ISPD NM_001101426.3(ISPD): c.638T> G (p.Met213Arg) single nucleotide variant Pathogenic rs397515408 GRCh37 Chromosome 7, 16415763: 16415763
16 ISPD NM_001101426.3(ISPD): c.638T> G (p.Met213Arg) single nucleotide variant Pathogenic rs397515408 GRCh38 Chromosome 7, 16376138: 16376138
17 ISPD NM_001101426.3(ISPD): c.535-?_933+?del deletion Pathogenic GRCh37 Chromosome 7, 16317753: 16415867
18 ISPD NM_001101426.3(ISPD): c.535-?_933+?del deletion Pathogenic GRCh38 Chromosome 7, 16278129: 16376241
19 ISPD NM_001101426.3(ISPD): c.466G> A (p.Asp156Asn) single nucleotide variant Pathogenic rs397514547 GRCh37 Chromosome 7, 16445754: 16445754
20 ISPD NM_001101426.3(ISPD): c.466G> A (p.Asp156Asn) single nucleotide variant Pathogenic rs397514547 GRCh38 Chromosome 7, 16406129: 16406129
21 ISPD NM_001101426.3(ISPD): c.256A> T (p.Arg86Ter) single nucleotide variant Pathogenic rs397514548 GRCh37 Chromosome 7, 16460692: 16460692
22 ISPD NM_001101426.3(ISPD): c.256A> T (p.Arg86Ter) single nucleotide variant Pathogenic rs397514548 GRCh38 Chromosome 7, 16421067: 16421067
23 ISPD NM_001101426.3(ISPD): c.79A> C (p.Thr27Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs558064127 GRCh37 Chromosome 7, 16460869: 16460869
24 ISPD NM_001101426.3(ISPD): c.79A> C (p.Thr27Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs558064127 GRCh38 Chromosome 7, 16421244: 16421244
25 ISPD NM_001101426.3(ISPD): c.947C> A (p.Thr316Lys) single nucleotide variant Benign rs114363936 GRCh37 Chromosome 7, 16298624: 16298624
26 ISPD NM_001101426.3(ISPD): c.947C> A (p.Thr316Lys) single nucleotide variant Benign rs114363936 GRCh38 Chromosome 7, 16258999: 16258999
27 ISPD NM_001101426.3(ISPD): c.1059G> A (p.Lys353=) single nucleotide variant Benign/Likely benign rs181099904 GRCh37 Chromosome 7, 16298075: 16298075
28 ISPD NM_001101426.3(ISPD): c.1059G> A (p.Lys353=) single nucleotide variant Benign/Likely benign rs181099904 GRCh38 Chromosome 7, 16258450: 16258450
29 ISPD NM_001101426.3(ISPD): c.1054C> A (p.Gln352Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs185594460 GRCh37 Chromosome 7, 16298080: 16298080
30 ISPD NM_001101426.3(ISPD): c.1054C> A (p.Gln352Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs185594460 GRCh38 Chromosome 7, 16258455: 16258455
31 ISPD NM_001101426.3(ISPD): c.534+13T> A single nucleotide variant Benign rs6461252 GRCh38 Chromosome 7, 16406048: 16406048
32 ISPD NM_001101426.3(ISPD): c.534+13T> A single nucleotide variant Benign rs6461252 GRCh37 Chromosome 7, 16445673: 16445673
33 ISPD NM_001101426.3(ISPD): c.67G> T (p.Gly23Cys) single nucleotide variant Benign/Likely benign rs187484645 GRCh37 Chromosome 7, 16460881: 16460881
34 ISPD NM_001101426.3(ISPD): c.67G> T (p.Gly23Cys) single nucleotide variant Benign/Likely benign rs187484645 GRCh38 Chromosome 7, 16421256: 16421256
35 ISPD NM_001101426.3(ISPD): c.53dupT (p.Ser19Glufs) duplication Pathogenic rs886041302 GRCh37 Chromosome 7, 16460895: 16460895
36 ISPD NM_001101426.3(ISPD): c.53dupT (p.Ser19Glufs) duplication Pathogenic rs886041302 GRCh38 Chromosome 7, 16421270: 16421270
37 ISPD NM_001101426.3(ISPD): c.999T> C (p.Asp333=) single nucleotide variant Conflicting interpretations of pathogenicity rs376909665 GRCh37 Chromosome 7, 16298572: 16298572
38 ISPD NM_001101426.3(ISPD): c.999T> C (p.Asp333=) single nucleotide variant Conflicting interpretations of pathogenicity rs376909665 GRCh38 Chromosome 7, 16258947: 16258947
39 ISPD NM_001101426.3(ISPD): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs370627877 GRCh37 Chromosome 7, 16415758: 16415758
40 ISPD NM_001101426.3(ISPD): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs370627877 GRCh38 Chromosome 7, 16376133: 16376133
41 ISPD NM_001101426.3(ISPD): c.1186G> T (p.Glu396Ter) single nucleotide variant Pathogenic rs886042554 GRCh37 Chromosome 7, 16255756: 16255756
42 ISPD NM_001101426.3(ISPD): c.1186G> T (p.Glu396Ter) single nucleotide variant Pathogenic rs886042554 GRCh38 Chromosome 7, 16216131: 16216131
43 ISPD NM_001101426.3(ISPD): c.934-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs886043337 GRCh37 Chromosome 7, 16298642: 16298642
44 ISPD NM_001101426.3(ISPD): c.934-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs886043337 GRCh38 Chromosome 7, 16259017: 16259017
45 ISPD NM_001101426.3(ISPD): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs886043573 GRCh37 Chromosome 7, 16460947: 16460947
46 ISPD NM_001101426.3(ISPD): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs886043573 GRCh38 Chromosome 7, 16421322: 16421322
47 ISPD NM_001101426.3(ISPD): c.258-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs767978961 GRCh37 Chromosome 7, 16445963: 16445963
48 ISPD NM_001101426.3(ISPD): c.258-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs767978961 GRCh38 Chromosome 7, 16406338: 16406338
49 ISPD NM_001101426.3(ISPD): c.360C> T (p.Val120=) single nucleotide variant Conflicting interpretations of pathogenicity rs183141256 GRCh37 Chromosome 7, 16445860: 16445860
50 ISPD NM_001101426.3(ISPD): c.360C> T (p.Val120=) single nucleotide variant Conflicting interpretations of pathogenicity rs183141256 GRCh38 Chromosome 7, 16406235: 16406235

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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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

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