MCID: MSC043
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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, 2

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 2 57 13 73
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A2 29 6
Mddga2 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A2 75
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt2-Related 57
Muscle-Eye-Brain Disease Pomt2-Related 75
Walker-Warburg Syndrome Pomt2-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity
onset prenatally or at birth
severe disorder
majority of wws patients die within the first year of life
patients with meb have less severe features and longer survival
patients with meb may acquire ability to walk and a few words


HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 2:
Onset and clinical course phenotypic variability
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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 DAG1 (128239), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (613150)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 2, is also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a2. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include brain, eye and pons, and related phenotypes are hydrocephalus and seizures

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2: 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, 2

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, 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
cerebellar dysplasia
ventricular dilatation
brainstem hypoplasia
more
Head And Neck Head:
microcephaly

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Mouth:
cleft lip (1 patient, wws)
cleft palate (1 patient, wws)
macroglossia (meb)

Head And Neck Eyes:
cataract
myopia
glaucoma
microphthalmia (wws)
buphthalmos (wws)
more
Muscle Soft Tissue:
muscular dystrophy
hypotonia, severe
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )
muscle hypertrophy (meb)

Skeletal:
congenital contractures

Skeletal Spine:
rigid spine (meb)
scoliosis (meb)


Clinical features from OMIM:

613150

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 seizures 32 HP:0001250
3 scoliosis 32 HP:0002650
4 macroglossia 32 HP:0000158
5 cataract 32 HP:0000518
6 microcephaly 32 HP:0000252
7 intellectual disability, severe 32 HP:0010864
8 elevated serum creatine phosphokinase 32 HP:0003236
9 cleft palate 32 occasional (7.5%) HP:0000175
10 myopia 32 HP:0000545
11 ventriculomegaly 32 HP:0002119
12 cerebellar hypoplasia 32 HP:0001321
13 microphthalmia 32 HP:0000568
14 buphthalmos 32 HP:0000557
15 intellectual disability, profound 32 HP:0002187
16 spinal rigidity 32 HP:0003306
17 cleft upper lip 32 occasional (7.5%) HP:0000204
18 pachygyria 32 HP:0001302
19 polymicrogyria 32 HP:0002126
20 aplasia/hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0007370
21 encephalocele 32 occasional (7.5%) HP:0002084
22 muscular dystrophy 32 HP:0003560
23 cerebellar dysplasia 32 HP:0007033
24 peters anomaly 32 HP:0000659
25 persistent pupillary membrane 32 occasional (7.5%) HP:0009917
26 congenital contracture 32 HP:0002803
27 hypermetropia 32 HP:0000540
28 severe muscular hypotonia 32 HP:0006829
29 cerebellar cyst 32 HP:0002350
30 type ii lissencephaly 32 HP:0007260
31 hypoplasia of the brainstem 32 HP:0002365

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A2 29 POMT2

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

41
Brain, Eye, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

75
# Symbol AA change Variation ID SNP ID
1 POMT2 p.Ile198Asn VAR_065038 rs267606972
2 POMT2 p.Gly353Ser VAR_065040 rs267606970
3 POMT2 p.Val373Phe VAR_065041 rs267606965
4 POMT2 p.Arg413Pro VAR_065042 rs190285831
5 POMT2 p.Gly482Val VAR_065044 rs267606968
6 POMT2 p.Tyr666Cys VAR_065045 rs200198778
7 POMT2 p.Gly726Glu VAR_065047 rs267606969
8 POMT2 p.His478Arg VAR_068968 rs765346043

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

6
(show top 50) (show all 111)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMT2 NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter) single nucleotide variant Pathogenic rs119463989 GRCh37 Chromosome 14, 77745192: 77745192
2 POMT2 NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter) single nucleotide variant Pathogenic rs119463989 GRCh38 Chromosome 14, 77278849: 77278849
3 POMT2 NM_013382.5(POMT2): c.1006+1G> A single nucleotide variant Pathogenic rs533916138 GRCh37 Chromosome 14, 77765031: 77765031
4 POMT2 NM_013382.5(POMT2): c.1006+1G> A single nucleotide variant Pathogenic rs533916138 GRCh38 Chromosome 14, 77298688: 77298688
5 POMT2 NM_013382.5(POMT2): c.1261delC (p.Arg421Glyfs) deletion Pathogenic rs587777815 GRCh38 Chromosome 14, 77286815: 77286815
6 POMT2 NM_013382.5(POMT2): c.1261delC (p.Arg421Glyfs) deletion Pathogenic rs587777815 GRCh37 Chromosome 14, 77753158: 77753158
7 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh37 Chromosome 14, 77745107: 77745107
8 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh38 Chromosome 14, 77278764: 77278764
9 POMT2 NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu) single nucleotide variant Pathogenic rs267606969 GRCh37 Chromosome 14, 77743795: 77743795
10 POMT2 NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu) single nucleotide variant Pathogenic rs267606969 GRCh38 Chromosome 14, 77277452: 77277452
11 POMT2 NM_013382.5(POMT2): c.1117G> T (p.Val373Phe) single nucleotide variant Pathogenic rs267606965 GRCh37 Chromosome 14, 77757723: 77757723
12 POMT2 NM_013382.5(POMT2): c.1117G> T (p.Val373Phe) single nucleotide variant Pathogenic rs267606965 GRCh38 Chromosome 14, 77291380: 77291380
13 POMT2 NM_013382.5(POMT2): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs267606972 GRCh37 Chromosome 14, 77769241: 77769241
14 POMT2 NM_013382.5(POMT2): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs267606972 GRCh38 Chromosome 14, 77302898: 77302898
15 POMT2 NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser) single nucleotide variant Pathogenic rs267606970 GRCh37 Chromosome 14, 77762566: 77762566
16 POMT2 NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser) single nucleotide variant Pathogenic rs267606970 GRCh38 Chromosome 14, 77296223: 77296223
17 POMT2 POMT2, IVS12AS, G-A, -14 single nucleotide variant Pathogenic
18 POMT2 NM_013382.5(POMT2): c.1445G> T (p.Gly482Val) single nucleotide variant Pathogenic rs267606968 GRCh37 Chromosome 14, 77751863: 77751863
19 POMT2 NM_013382.5(POMT2): c.1445G> T (p.Gly482Val) single nucleotide variant Pathogenic rs267606968 GRCh38 Chromosome 14, 77285520: 77285520
20 POMT2 NM_013382.5(POMT2): c.1683T> C (p.Asn561=) single nucleotide variant Benign/Likely benign rs146307965 GRCh37 Chromosome 14, 77746777: 77746777
21 POMT2 NM_013382.5(POMT2): c.1683T> C (p.Asn561=) single nucleotide variant Benign/Likely benign rs146307965 GRCh38 Chromosome 14, 77280434: 77280434
22 POMT2 NM_013382.5(POMT2): c.1262G> A (p.Arg421Gln) single nucleotide variant Benign/Likely benign rs151078549 GRCh37 Chromosome 14, 77753157: 77753157
23 POMT2 NM_013382.5(POMT2): c.1262G> A (p.Arg421Gln) single nucleotide variant Benign/Likely benign rs151078549 GRCh38 Chromosome 14, 77286814: 77286814
24 POMT2 NM_013382.5(POMT2): c.1404A> G (p.Lys468=) single nucleotide variant Conflicting interpretations of pathogenicity rs150491326 GRCh37 Chromosome 14, 77751904: 77751904
25 POMT2 NM_013382.5(POMT2): c.1404A> G (p.Lys468=) single nucleotide variant Conflicting interpretations of pathogenicity rs150491326 GRCh38 Chromosome 14, 77285561: 77285561
26 POMT2 NM_013382.5(POMT2): c.1701C> G (p.Pro567=) single nucleotide variant Conflicting interpretations of pathogenicity rs151051452 GRCh37 Chromosome 14, 77746759: 77746759
27 POMT2 NM_013382.5(POMT2): c.1701C> G (p.Pro567=) single nucleotide variant Conflicting interpretations of pathogenicity rs151051452 GRCh38 Chromosome 14, 77280416: 77280416
28 POMT2 NM_013382.5(POMT2): c.1881G> A (p.Ala627=) single nucleotide variant Conflicting interpretations of pathogenicity rs146588608 GRCh37 Chromosome 14, 77746176: 77746176
29 POMT2 NM_013382.5(POMT2): c.1881G> A (p.Ala627=) single nucleotide variant Conflicting interpretations of pathogenicity rs146588608 GRCh38 Chromosome 14, 77279833: 77279833
30 POMT2 NM_013382.5(POMT2): c.1903G> A (p.Val635Ile) single nucleotide variant Uncertain significance rs142299878 GRCh37 Chromosome 14, 77745201: 77745201
31 POMT2 NM_013382.5(POMT2): c.1903G> A (p.Val635Ile) single nucleotide variant Uncertain significance rs142299878 GRCh38 Chromosome 14, 77278858: 77278858
32 POMT2 NM_013382.5(POMT2): c.652G> A (p.Asp218Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140785104 GRCh37 Chromosome 14, 77769182: 77769182
33 POMT2 NM_013382.5(POMT2): c.652G> A (p.Asp218Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140785104 GRCh38 Chromosome 14, 77302839: 77302839
34 POMT2 NM_013382.5(POMT2): c.1537A> G (p.Asn513Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs117173425 GRCh38 Chromosome 14, 77284989: 77284989
35 POMT2 NM_013382.5(POMT2): c.1537A> G (p.Asn513Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs117173425 GRCh37 Chromosome 14, 77751332: 77751332
36 POMT2 NM_013382.5(POMT2): c.1250A> G (p.Lys417Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs147268052 GRCh38 Chromosome 14, 77288765: 77288765
37 POMT2 NM_013382.5(POMT2): c.1250A> G (p.Lys417Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs147268052 GRCh37 Chromosome 14, 77755108: 77755108
38 POMT2 NM_013382.5(POMT2): c.1045_1052delCGGATGGCinsG (p.Arg349Alafs) indel Pathogenic rs886042094 GRCh37 Chromosome 14, 77762571: 77762578
39 POMT2 NM_013382.5(POMT2): c.1045_1052delCGGATGGCinsG (p.Arg349Alafs) indel Pathogenic rs886042094 GRCh38 Chromosome 14, 77296228: 77296235
40 POMT2 NM_013382.5(POMT2): c.1920C> T (p.Gly640=) single nucleotide variant Uncertain significance rs150755807 GRCh37 Chromosome 14, 77745184: 77745184
41 POMT2 NM_013382.5(POMT2): c.1920C> T (p.Gly640=) single nucleotide variant Uncertain significance rs150755807 GRCh38 Chromosome 14, 77278841: 77278841
42 POMT2 NM_013382.5(POMT2): c.2057G> A (p.Arg686Gln) single nucleotide variant Benign/Likely benign rs200163818 GRCh37 Chromosome 14, 77744827: 77744827
43 POMT2 NM_013382.5(POMT2): c.2057G> A (p.Arg686Gln) single nucleotide variant Benign/Likely benign rs200163818 GRCh38 Chromosome 14, 77278484: 77278484
44 POMT2 NM_013382.5(POMT2): c.1124_1125insAC (p.Tyr376Profs) insertion Pathogenic rs886042401 GRCh37 Chromosome 14, 77757715: 77757716
45 POMT2 NM_013382.5(POMT2): c.1124_1125insAC (p.Tyr376Profs) insertion Pathogenic rs886042401 GRCh38 Chromosome 14, 77291372: 77291373
46 POMT2 NM_013382.5(POMT2): c.649G> A (p.Ala217Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144748043 GRCh37 Chromosome 14, 77769185: 77769185
47 POMT2 NM_013382.5(POMT2): c.649G> A (p.Ala217Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144748043 GRCh38 Chromosome 14, 77302842: 77302842
48 POMT2 NM_013382.5(POMT2): c.1935C> T (p.Leu645=) single nucleotide variant Conflicting interpretations of pathogenicity rs141193672 GRCh37 Chromosome 14, 77745169: 77745169
49 POMT2 NM_013382.5(POMT2): c.1935C> T (p.Leu645=) single nucleotide variant Conflicting interpretations of pathogenicity rs141193672 GRCh38 Chromosome 14, 77278826: 77278826
50 POMT2 NM_013382.5(POMT2): c.66C> T (p.Gly22=) single nucleotide variant Conflicting interpretations of pathogenicity rs200670377 GRCh37 Chromosome 14, 77786959: 77786959

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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