MCID: MSC127
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Muscle diseases, Mental diseases, Eye diseases, Metabolic diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 9:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 9 57 75 29 6
Walker-Warburg Syndrome or Muscle-Eye Brain Disease, Dag1-Related 57 75
Mddga9 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A9 75
Muscle-Eye-Brain Disease with Bilateral Multicystic Leucodystrophy 59
Meb Disease with Bilateral Multicystic Leucodystrophy 59

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
death in first days of life (family b)
two unrelated families have been reported (last curated august 2015)


HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 9:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

OMIM : 57 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (616538)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 9, is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 9 is DAG1 (Dystroglycan 1). Affiliated tissues include brain, eye and pons, and related phenotypes are macrocephaly and hydrocephalus

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9: 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, 9

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, 9

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Respiratory:
respiratory failure

Muscle Soft Tissue:
muscular dystrophy
hypotonia
absence of immunostaining for alpha-dystroglycan (family a)
absence of immunostaining for alpha- and beta-dystroglycan (family b)

Head And Neck Eyes:
cataract
myopia
microphthalmia
glaucoma
buphthalmos
more
Neurologic Central Nervous System:
polymicrogyria
poor head control
hypoplastic cerebellar vermis
thin corpus callosum
dilated ventricles
more
Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

616538

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 9:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hydrocephalus 32 HP:0000238
3 cerebral calcification 32 HP:0002514
4 cataract 32 HP:0000518
5 global developmental delay 32 HP:0001263
6 elevated serum creatine phosphokinase 32 HP:0003236
7 absent speech 32 HP:0001344
8 myopia 32 HP:0000545
9 ventriculomegaly 32 HP:0002119
10 microphthalmia 32 HP:0000568
11 respiratory failure 32 HP:0002878
12 buphthalmos 32 HP:0000557
13 polymicrogyria 32 HP:0002126
14 muscular dystrophy 32 HP:0003560
15 hypoplasia of the corpus callosum 32 HP:0002079
16 leukodystrophy 32 HP:0002415
17 retinal dystrophy 32 HP:0000556
18 cerebellar vermis hypoplasia 32 HP:0001320
19 generalized hypotonia 32 HP:0001290
20 poor head control 32 HP:0002421
21 cerebellar cyst 32 HP:0002350

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 9:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 9 29 DAG1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 9:

41
Brain, Eye, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 9:

75
# Symbol AA change Variation ID SNP ID
1 DAG1 p.Cys669Phe VAR_075811 rs797045023

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 9:

6
(show top 50) (show all 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 DAG1 NM_004393.5(DAG1): c.258G> C (p.Leu86Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs145403829 GRCh37 Chromosome 3, 49548225: 49548225
2 DAG1 NM_004393.5(DAG1): c.258G> C (p.Leu86Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs145403829 GRCh38 Chromosome 3, 49510792: 49510792
3 DAG1 NM_004393.5(DAG1): c.1233G> A (p.Val411=) single nucleotide variant Benign/Likely benign rs145765079 GRCh37 Chromosome 3, 49569177: 49569177
4 DAG1 NM_004393.5(DAG1): c.1233G> A (p.Val411=) single nucleotide variant Benign/Likely benign rs145765079 GRCh38 Chromosome 3, 49531744: 49531744
5 DAG1 NM_004393.5(DAG1): c.735G> A (p.Pro245=) single nucleotide variant Uncertain significance rs748164001 GRCh37 Chromosome 3, 49568679: 49568679
6 DAG1 NM_004393.5(DAG1): c.735G> A (p.Pro245=) single nucleotide variant Uncertain significance rs748164001 GRCh38 Chromosome 3, 49531246: 49531246
7 DAG1 NM_001165928.3(DAG1): c.599C> G (p.Thr200Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs41290704 GRCh37 Chromosome 3, 49568543: 49568543
8 DAG1 NM_001165928.3(DAG1): c.599C> G (p.Thr200Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs41290704 GRCh38 Chromosome 3, 49531110: 49531110
9 DAG1 NM_004393.5(DAG1): c.331G> A (p.Asp111Asn) single nucleotide variant Benign rs117209107 GRCh37 Chromosome 3, 49568275: 49568275
10 DAG1 NM_004393.5(DAG1): c.331G> A (p.Asp111Asn) single nucleotide variant Benign rs117209107 GRCh38 Chromosome 3, 49530842: 49530842
11 DAG1 NM_001165928.3(DAG1): c.2006G> T (p.Cys669Phe) single nucleotide variant Pathogenic rs797045023 GRCh37 Chromosome 3, 49569950: 49569950
12 DAG1 NM_001165928.3(DAG1): c.2006G> T (p.Cys669Phe) single nucleotide variant Pathogenic rs797045023 GRCh38 Chromosome 3, 49532517: 49532517
13 DAG1 NM_001165928.3(DAG1): c.743delC (p.Ala248Glufs) deletion Pathogenic rs869320680 GRCh37 Chromosome 3, 49568687: 49568687
14 DAG1 NM_001165928.3(DAG1): c.743delC (p.Ala248Glufs) deletion Pathogenic rs869320680 GRCh38 Chromosome 3, 49531254: 49531254
15 DAG1 NM_001165928.3(DAG1): c.2231G> C (p.Ser744Thr) single nucleotide variant Benign rs114357468 GRCh37 Chromosome 3, 49570175: 49570175
16 DAG1 NM_001165928.3(DAG1): c.2231G> C (p.Ser744Thr) single nucleotide variant Benign rs114357468 GRCh38 Chromosome 3, 49532742: 49532742
17 DAG1 NM_001165928.3(DAG1): c.384G> T (p.Val128=) single nucleotide variant Benign rs143829263 GRCh38 Chromosome 3, 49530895: 49530895
18 DAG1 NM_001165928.3(DAG1): c.384G> T (p.Val128=) single nucleotide variant Benign rs143829263 GRCh37 Chromosome 3, 49568328: 49568328
19 DAG1 NM_001165928.3(DAG1): c.1308G> A (p.Thr436=) single nucleotide variant Conflicting interpretations of pathogenicity rs143763229 GRCh38 Chromosome 3, 49531819: 49531819
20 DAG1 NM_001165928.3(DAG1): c.1308G> A (p.Thr436=) single nucleotide variant Conflicting interpretations of pathogenicity rs143763229 GRCh37 Chromosome 3, 49569252: 49569252
21 DAG1 NM_001165928.3(DAG1): c.1701C> T (p.Ser567=) single nucleotide variant Benign rs142579425 GRCh38 Chromosome 3, 49532212: 49532212
22 DAG1 NM_001165928.3(DAG1): c.1701C> T (p.Ser567=) single nucleotide variant Benign rs142579425 GRCh37 Chromosome 3, 49569645: 49569645
23 DAG1 NM_001165928.3(DAG1): c.2036G> A (p.Arg679His) single nucleotide variant Likely benign rs113904914 GRCh37 Chromosome 3, 49569980: 49569980
24 DAG1 NM_001165928.3(DAG1): c.2036G> A (p.Arg679His) single nucleotide variant Likely benign rs113904914 GRCh38 Chromosome 3, 49532547: 49532547
25 DAG1 NM_004393.5(DAG1): c.278T> C (p.Ile93Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149218670 GRCh37 Chromosome 3, 49548245: 49548245
26 DAG1 NM_004393.5(DAG1): c.278T> C (p.Ile93Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149218670 GRCh38 Chromosome 3, 49510812: 49510812
27 DAG1 NM_004393.5(DAG1): c.286-10delT deletion Likely benign rs747305463 GRCh37 Chromosome 3, 49568220: 49568220
28 DAG1 NM_004393.5(DAG1): c.286-10delT deletion Likely benign rs747305463 GRCh38 Chromosome 3, 49530787: 49530787
29 DAG1 NM_004393.5(DAG1): c.185C> T (p.Pro62Leu) single nucleotide variant Uncertain significance rs375938350 GRCh37 Chromosome 3, 49548152: 49548152
30 DAG1 NM_004393.5(DAG1): c.185C> T (p.Pro62Leu) single nucleotide variant Uncertain significance rs375938350 GRCh38 Chromosome 3, 49510719: 49510719
31 DAG1 NM_004393.5(DAG1): c.2561G> A (p.Arg854Gln) single nucleotide variant Uncertain significance rs199933395 GRCh37 Chromosome 3, 49570505: 49570505
32 DAG1 NM_004393.5(DAG1): c.2561G> A (p.Arg854Gln) single nucleotide variant Uncertain significance rs199933395 GRCh38 Chromosome 3, 49533072: 49533072
33 DAG1 NM_004393.5(DAG1): c.1046C> T (p.Pro349Leu) single nucleotide variant Uncertain significance rs200233956 GRCh37 Chromosome 3, 49568990: 49568990
34 DAG1 NM_004393.5(DAG1): c.1046C> T (p.Pro349Leu) single nucleotide variant Uncertain significance rs200233956 GRCh38 Chromosome 3, 49531557: 49531557
35 DAG1 NM_004393.5(DAG1): c.1022C> T (p.Thr341Ile) single nucleotide variant Uncertain significance rs148759919 GRCh37 Chromosome 3, 49568966: 49568966
36 DAG1 NM_004393.5(DAG1): c.1022C> T (p.Thr341Ile) single nucleotide variant Uncertain significance rs148759919 GRCh38 Chromosome 3, 49531533: 49531533
37 DAG1 NM_004393.5(DAG1): c.2520T> C (p.Thr840=) single nucleotide variant Benign/Likely benign rs149564053 GRCh38 Chromosome 3, 49533031: 49533031
38 DAG1 NM_004393.5(DAG1): c.2520T> C (p.Thr840=) single nucleotide variant Benign/Likely benign rs149564053 GRCh37 Chromosome 3, 49570464: 49570464
39 DAG1 NM_004393.5(DAG1): c.1306A> G (p.Thr436Ala) single nucleotide variant Uncertain significance rs149838438 GRCh37 Chromosome 3, 49569250: 49569250
40 DAG1 NM_004393.5(DAG1): c.1306A> G (p.Thr436Ala) single nucleotide variant Uncertain significance rs149838438 GRCh38 Chromosome 3, 49531817: 49531817
41 DAG1 NM_004393.5(DAG1): c.2082C> T (p.Asn694=) single nucleotide variant Conflicting interpretations of pathogenicity rs146453412 GRCh37 Chromosome 3, 49570026: 49570026
42 DAG1 NM_004393.5(DAG1): c.2082C> T (p.Asn694=) single nucleotide variant Conflicting interpretations of pathogenicity rs146453412 GRCh38 Chromosome 3, 49532593: 49532593
43 DAG1 NM_004393.5(DAG1): c.2313C> T (p.Ala771=) single nucleotide variant Conflicting interpretations of pathogenicity rs764289801 GRCh37 Chromosome 3, 49570257: 49570257
44 DAG1 NM_004393.5(DAG1): c.2313C> T (p.Ala771=) single nucleotide variant Conflicting interpretations of pathogenicity rs764289801 GRCh38 Chromosome 3, 49532824: 49532824
45 DAG1 NM_004393.5(DAG1): c.1051A> G (p.Thr351Ala) single nucleotide variant Uncertain significance rs376991799 GRCh37 Chromosome 3, 49568995: 49568995
46 DAG1 NM_004393.5(DAG1): c.1051A> G (p.Thr351Ala) single nucleotide variant Uncertain significance rs376991799 GRCh38 Chromosome 3, 49531562: 49531562
47 DAG1 NM_004393.5(DAG1): c.1307C> T (p.Thr436Met) single nucleotide variant Uncertain significance rs143573515 GRCh37 Chromosome 3, 49569251: 49569251
48 DAG1 NM_004393.5(DAG1): c.1307C> T (p.Thr436Met) single nucleotide variant Uncertain significance rs143573515 GRCh38 Chromosome 3, 49531818: 49531818
49 DAG1 NM_004393.5(DAG1): c.2271C> T (p.Ala757=) single nucleotide variant Benign rs78281659 GRCh38 Chromosome 3, 49532782: 49532782
50 DAG1 NM_004393.5(DAG1): c.2271C> T (p.Ala757=) single nucleotide variant Benign rs78281659 GRCh37 Chromosome 3, 49570215: 49570215

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 9.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

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