Muscular Dystrophy-Dystroglycanopathy , Type a, 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
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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

muscle-eye-brain disease with bilateral multicystic leucodystrophy
Prevalence: <1/1000000 (Worldwide);

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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Muscle diseases Mental diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 616538

Orphanet ⁵⁹ ORPHA370997

ICD10 via Orphanet ³⁴ G71.2

MedGen ⁴² C4225291 CN232402

MeSH ⁴⁴ D058494

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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.

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Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

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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 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

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

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

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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

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

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

⁴¹

Brain, Eye, Pons

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

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Genes for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Genes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 9 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DAG1	Dystroglycan 1	Protein Coding	1650	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹	25934851 24052401

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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

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Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

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

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Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 9

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

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