MDDGA2
MCID: MSC043
MIFTS: 30

Muscular Dystrophy-Dystroglycanopathy , Type a, 2 (MDDGA2)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal 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 56 73 13 71
Mddga2 56 73
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A2 73
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt2-Related 56
Muscle-Eye-Brain Disease Pomt2-Related 73
Walker-Warburg Syndrome Pomt2-Related 73

Characteristics:

OMIM:

56
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:

31
muscular dystrophy-dystroglycanopathy , type a, 2:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

OMIM : 56 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, also known as mddga2, is related to congenital muscular dystrophy-dystroglycanopathy 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 cleft palate and cleft upper lip

UniProtKB/Swiss-Prot : 73 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 C, 15 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 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Congenital Muscular Dystrophy-Dystroglycanopathy Type a Congenital Muscular Dystrophy-Dystroglycanopathy Type A11
Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9
Congenital Muscular Dystrophy-Dystroglycanopathy A14 Congenital Muscular Dystrophy-Dystroglycanopathy A7
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy type a2 11.3

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract
myopia
glaucoma
microphthalmia (wws)
buphthalmos (wws)
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)

Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
cerebellar dysplasia
ventricular dilatation
brainstem hypoplasia
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

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

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

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

40
Brain, Eye, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

# Title Authors PMID Year
1
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. 56 6
19138766 2009
2
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 6 56
19299310 2009
3
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 56 6
17878207 2007
4
POMT2 mutation in a patient with 'MEB-like' phenotype. 6 56
16701995 2006
5
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 6 56
15894594 2005
6
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. 56
19067344 2008
7
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. 6
17634419 2007
8
Congenital Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301468 2001

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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

6 (show top 50) (show all 152) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POMT2 NM_013382.5(POMT2):c.924-2A>CSNV Pathogenic 449378 rs886044256 14:77765116-77765116 14:77298773-77298773
2 POMT2 NM_013382.5(POMT2):c.648C>A (p.Cys216Ter)SNV Pathogenic 538730 rs147871747 14:77769186-77769186 14:77302843-77302843
3 POMT2 NM_013382.5(POMT2):c.673del (p.Trp225fs)deletion Pathogenic 649496 14:77767576-77767576 14:77301233-77301233
4 POMT2 NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter)SNV Pathogenic 3218 rs119463989 14:77745192-77745192 14:77278849-77278849
5 POMT2 NM_013382.5(POMT2):c.1006+1G>ASNV Pathogenic 3219 rs533916138 14:77765031-77765031 14:77298688-77298688
6 POMT2 NM_013382.5(POMT2):c.1261del (p.Arg421fs)deletion Pathogenic 3220 rs587777815 14:77753158-77753158 14:77286815-77286815
7 POMT2 NM_013382.5(POMT2):c.1293dup (p.Met432fs)duplication Pathogenic 538734 rs1555352706 14:77753125-77753126 14:77286782-77286783
8 POMT2 NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu)SNV Pathogenic 3222 rs267606969 14:77743795-77743795 14:77277452-77277452
9 POMT2 NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser)SNV Pathogenic 3231 rs267606970 14:77762566-77762566 14:77296223-77296223
10 POMT2 POMT2, IVS12AS, G-A, -14SNV Pathogenic 3235
11 POMT2 NM_013382.5(POMT2):c.1445G>T (p.Gly482Val)SNV Pathogenic 3236 rs267606968 14:77751863-77751863 14:77285520-77285520
12 POMT2 NM_013382.5(POMT2):c.1117G>T (p.Val373Phe)SNV Pathogenic 3226 rs267606965 14:77757723-77757723 14:77291380-77291380
13 POMT2 NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter)SNV Pathogenic 95535 rs368817785 14:77751891-77751891 14:77285548-77285548
14 POMT2 NM_013382.5(POMT2):c.958C>T (p.Gln320Ter)SNV Pathogenic 289683 rs775932206 14:77765080-77765080 14:77298737-77298737
15 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys)SNV Pathogenic/Likely pathogenic 3221 rs200198778 14:77745107-77745107 14:77278764-77278764
16 POMT2 NM_013382.5(POMT2):c.1485-2_1485-1deldeletion Likely pathogenic 579922 rs1185491348 14:77751385-77751386 14:77285042-77285043
17 POMT2 NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs)short repeat Likely pathogenic 538732 rs1555351894 14:77746394-77746395 14:77280051-77280052
18 POMT2 NM_013382.5(POMT2):c.248+1G>CSNV Likely pathogenic 579369 rs961440747 14:77786776-77786776 14:77320433-77320433
19 POMT2 NM_013382.5(POMT2):c.1332+6_1332+9delshort repeat Conflicting interpretations of pathogenicity 592360 rs781093215 14:77753078-77753081 14:77286735-77286738
20 POMT2 NM_013382.5(POMT2):c.871C>G (p.Leu291Val)SNV Conflicting interpretations of pathogenicity 436382 rs764015186 14:77765850-77765850 14:77299507-77299507
21 POMT2 NM_013382.5(POMT2):c.1397G>A (p.Arg466Gln)SNV Conflicting interpretations of pathogenicity 471387 rs138266415 14:77751911-77751911 14:77285568-77285568
22 POMT2 NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp)SNV Conflicting interpretations of pathogenicity 79628 rs141339355 14:77762578-77762578 14:77296235-77296235
23 POMT2 NM_013382.5(POMT2):c.232G>C (p.Glu78Gln)SNV Conflicting interpretations of pathogenicity 95541 rs151103906 14:77786793-77786793 14:77320450-77320450
24 POMT2 NM_013382.5(POMT2):c.1404A>G (p.Lys468=)SNV Conflicting interpretations of pathogenicity 194247 rs150491326 14:77751904-77751904 14:77285561-77285561
25 POMT2 NM_013382.5(POMT2):c.1485-4A>CSNV Conflicting interpretations of pathogenicity 194400 rs794727127 14:77751388-77751388 14:77285045-77285045
26 POMT2 NM_013382.5(POMT2):c.1701C>G (p.Pro567=)SNV Conflicting interpretations of pathogenicity 194648 rs151051452 14:77746759-77746759 14:77280416-77280416
27 POMT2 NM_013382.5(POMT2):c.1881G>A (p.Ala627=)SNV Conflicting interpretations of pathogenicity 194863 rs146588608 14:77746176-77746176 14:77279833-77279833
28 POMT2 NM_013382.5(POMT2):c.1903G>A (p.Val635Ile)SNV Conflicting interpretations of pathogenicity 194965 rs142299878 14:77745201-77745201 14:77278858-77278858
29 POMT2 NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu)SNV Conflicting interpretations of pathogenicity 194966 rs794727228 14:77745146-77745146 14:77278803-77278803
30 POMT2 NM_013382.5(POMT2):c.84C>T (p.Ala28=)SNV Conflicting interpretations of pathogenicity 290205 rs771031903 14:77786941-77786941 14:77320598-77320598
31 POMT2 NM_013382.5(POMT2):c.1935C>T (p.Leu645=)SNV Conflicting interpretations of pathogenicity 284450 rs141193672 14:77745169-77745169 14:77278826-77278826
32 POMT2 NM_013382.5(POMT2):c.648C>T (p.Cys216=)SNV Conflicting interpretations of pathogenicity 314560 rs147871747 14:77769186-77769186 14:77302843-77302843
33 POMT2 NM_013382.5(POMT2):c.1206A>C (p.Pro402=)SNV Conflicting interpretations of pathogenicity 386968 rs142479943 14:77755152-77755152 14:77288809-77288809
34 POMT2 NM_013382.5(POMT2):c.1261C>T (p.Arg421Trp)SNV Conflicting interpretations of pathogenicity 162597 rs727502855 14:77753158-77753158 14:77286815-77286815
35 POMT2 NM_013382.5(POMT2):c.1683T>C (p.Asn561=)SNV Conflicting interpretations of pathogenicity 166904 rs146307965 14:77746777-77746777 14:77280434-77280434
36 POMT2 NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp)SNV Conflicting interpretations of pathogenicity 211949 rs117173425 14:77751332-77751332 14:77284989-77284989
37 POMT2 NM_013382.5(POMT2):c.2057G>A (p.Arg686Gln)SNV Conflicting interpretations of pathogenicity 282243 rs200163818 14:77744827-77744827 14:77278484-77278484
38 POMT2 NM_013382.5(POMT2):c.651C>T (p.Ala217=)SNV Conflicting interpretations of pathogenicity 282404 rs147845081 14:77769183-77769183 14:77302840-77302840
39 POMT2 NM_013382.5(POMT2):c.649G>A (p.Ala217Thr)SNV Conflicting interpretations of pathogenicity 282839 rs144748043 14:77769185-77769185 14:77302842-77302842
40 POMT2 NM_013382.5(POMT2):c.1654-8T>GSNV Conflicting interpretations of pathogenicity 283033 rs780532724 14:77746814-77746814 14:77280471-77280471
41 POMT2 NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg)SNV Conflicting interpretations of pathogenicity 260291 rs147268052 14:77755108-77755108 14:77288765-77288765
42 POMT2 NM_013382.5(POMT2):c.2223A>G (p.Gly741=)SNV Conflicting interpretations of pathogenicity 283477 rs554801559 14:77743749-77743749 14:77277406-77277406
43 POMT2 NM_013382.5(POMT2):c.66C>T (p.Gly22=)SNV Conflicting interpretations of pathogenicity 285150 rs200670377 14:77786959-77786959 14:77320616-77320616
44 POMT2 NM_013382.5(POMT2):c.621G>A (p.Met207Ile)SNV Uncertain significance 285222 rs551885065 14:77769213-77769213 14:77302870-77302870
45 POMT2 NM_013382.5(POMT2):c.825G>A (p.Val275=)SNV Uncertain significance 288761 rs779272258 14:77765896-77765896 14:77299553-77299553
46 POMT2 NM_013382.5(POMT2):c.2086C>A (p.Pro696Thr)SNV Uncertain significance 283989 rs76700503 14:77744798-77744798 14:77278455-77278455
47 POMT2 NM_013382.5(POMT2):c.1711C>T (p.Pro571Ser)SNV Uncertain significance 284056 rs771812476 14:77746749-77746749 14:77280406-77280406
48 POMT2 NM_013382.5(POMT2):c.1920C>T (p.Gly640=)SNV Uncertain significance 281987 rs150755807 14:77745184-77745184 14:77278841-77278841
49 POMT2 NM_013382.5(POMT2):c.1732C>T (p.Arg578Cys)SNV Uncertain significance 283109 rs148466370 14:77746417-77746417 14:77280074-77280074
50 POMT2 NM_013382.5(POMT2):c.148C>G (p.Arg50Gly)SNV Uncertain significance 211948 rs550420394 14:77786877-77786877 14:77320534-77320534

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

73
# 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

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 2.

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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