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 eye, brain 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 seizures 31 HP:0001250
7 scoliosis 31 HP:0002650
8 hydrocephalus 31 HP:0000238
9 macroglossia 31 HP:0000158
10 cataract 31 HP:0000518
11 microcephaly 31 HP:0000252
12 hypoplasia of the brainstem 31 HP:0002365
13 intellectual disability, severe 31 HP:0010864
14 myopia 31 HP:0000545
15 spinal rigidity 31 HP:0003306
16 ventriculomegaly 31 HP:0002119
17 cerebellar hypoplasia 31 HP:0001321
18 microphthalmia 31 HP:0000568
19 buphthalmos 31 HP:0000557
20 polymicrogyria 31 HP:0002126
21 severe muscular hypotonia 31 HP:0006829
22 pachygyria 31 HP:0001302
23 muscular dystrophy 31 HP:0003560
24 cerebellar dysplasia 31 HP:0007033
25 congenital contracture 31 HP:0002803
26 intellectual disability, profound 31 HP:0002187
27 peters anomaly 31 HP:0000659
28 hypermetropia 31 HP:0000540
29 cerebellar cyst 31 HP:0002350
30 type ii lissencephaly 31 HP:0007260
31 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
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

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
Eye, Brain, 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. 56 6
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. 56 6
16701995 2006
5
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 56 6
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 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 103) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POMT2 NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter)SNV Pathogenic 3218 rs119463989 14:77745192-77745192 14:77278849-77278849
2 POMT2 NM_013382.5(POMT2):c.1006+1G>ASNV Pathogenic 3219 rs533916138 14:77765031-77765031 14:77298688-77298688
3 POMT2 NM_013382.5(POMT2):c.1261del (p.Arg421fs)deletion Pathogenic 3220 rs587777815 14:77753158-77753158 14:77286815-77286815
4 POMT2 NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser)SNV Pathogenic 3231 rs267606970 14:77762566-77762566 14:77296223-77296223
5 POMT2 POMT2, IVS12AS, G-A, -14SNV Pathogenic 3235
6 POMT2 NM_013382.5(POMT2):c.1445G>T (p.Gly482Val)SNV Pathogenic 3236 rs267606968 14:77751863-77751863 14:77285520-77285520
7 POMT2 NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter)SNV Pathogenic 95535 rs368817785 14:77751891-77751891 14:77285548-77285548
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.1117G>T (p.Val373Phe)SNV Pathogenic 3226 rs267606965 14:77757723-77757723 14:77291380-77291380
10 POMT2 NM_013382.5(POMT2):c.924-2A>CSNV Pathogenic 449378 rs886044256 14:77765116-77765116 14:77298773-77298773
11 POMT2 NM_013382.5(POMT2):c.958C>T (p.Gln320Ter)SNV Pathogenic 289683 rs775932206 14:77765080-77765080 14:77298737-77298737
12 POMT2 NM_013382.5(POMT2):c.1293dup (p.Met432fs)duplication Pathogenic 538734 rs1555352706 14:77753125-77753126 14:77286782-77286783
13 POMT2 NM_013382.5(POMT2):c.648C>A (p.Cys216Ter)SNV Pathogenic 538730 rs147871747 14:77769186-77769186 14:77302843-77302843
14 POMT2 NM_013382.5(POMT2):c.673del (p.Trp225fs)deletion Pathogenic 649496 14:77767576-77767576 14:77301233-77301233
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.1397G>A (p.Arg466Gln)SNV Conflicting interpretations of pathogenicity 471387 rs138266415 14:77751911-77751911 14:77285568-77285568
20 POMT2 NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg)SNV Conflicting interpretations of pathogenicity 260291 rs147268052 14:77755108-77755108 14:77288765-77288765
21 POMT2 NM_013382.5(POMT2):c.1261C>T (p.Arg421Trp)SNV Conflicting interpretations of pathogenicity 162597 rs727502855 14:77753158-77753158 14:77286815-77286815
22 POMT2 NM_013382.5(POMT2):c.1903G>A (p.Val635Ile)SNV Conflicting interpretations of pathogenicity 194965 rs142299878 14:77745201-77745201 14:77278858-77278858
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.1654-8T>GSNV Conflicting interpretations of pathogenicity 283033 rs780532724 14:77746814-77746814 14:77280471-77280471
25 POMT2 NM_013382.5(POMT2):c.1732C>T (p.Arg578Cys)SNV Uncertain significance 283109 rs148466370 14:77746417-77746417 14:77280074-77280074
26 POMT2 NM_013382.5(POMT2):c.1711C>T (p.Pro571Ser)SNV Uncertain significance 284056 rs771812476 14:77746749-77746749 14:77280406-77280406
27 POMT2 NM_013382.5(POMT2):c.1871G>A (p.Arg624Gln)SNV Uncertain significance 284970 rs369365744 14:77746186-77746186 14:77279843-77279843
28 POMT2 NM_013382.5(POMT2):c.295C>T (p.Arg99Cys)SNV Uncertain significance 285067 rs199719668 14:77778330-77778330 14:77311987-77311987
29 POMT2 NM_013382.5(POMT2):c.621G>A (p.Met207Ile)SNV Uncertain significance 285222 rs551885065 14:77769213-77769213 14:77302870-77302870
30 POMT2 NM_013382.5(POMT2):c.825G>A (p.Val275=)SNV Uncertain significance 288761 rs779272258 14:77765896-77765896 14:77299553-77299553
31 POMT2 NM_013382.5(POMT2):c.593T>A (p.Ile198Asn)SNV Uncertain significance 3227 rs267606972 14:77769241-77769241 14:77302898-77302898
32 POMT2 NM_013382.5(POMT2):c.2242T>C (p.Trp748Arg)SNV Uncertain significance 3224 rs267606964 14:77743730-77743730 14:77277387-77277387
33 POMT2 NM_013382.5(POMT2):c.1238G>C (p.Arg413Pro)SNV Uncertain significance 3225 rs190285831 14:77755120-77755120 14:77288777-77288777
34 POMT2 NM_013382.5(POMT2):c.134C>G (p.Pro45Arg)SNV Uncertain significance 451230 rs753037500 14:77786891-77786891 14:77320548-77320548
35 POMT2 NM_013382.5(POMT2):c.128A>G (p.Lys43Arg)SNV Uncertain significance 451573 rs745417690 14:77786897-77786897 14:77320554-77320554
36 POMT2 NM_013382.5(POMT2):c.2228G>T (p.Arg743Met)SNV Uncertain significance 471392 rs767359121 14:77743744-77743744 14:77277401-77277401
37 POMT2 NM_013382.5(POMT2):c.1828C>T (p.Leu610Phe)SNV Uncertain significance 471391 rs1555351859 14:77746229-77746229 14:77279886-77279886
38 POMT2 NM_013382.5(POMT2):c.1042C>G (p.Leu348Val)SNV Uncertain significance 471386 rs1158227625 14:77762581-77762581 14:77296238-77296238
39 POMT2 NM_013382.5(POMT2):c.1645A>G (p.Met549Val)SNV Uncertain significance 471390 rs1555352401 14:77750148-77750148 14:77283805-77283805
40 POMT2 NM_013382.5(POMT2):c.322C>T (p.Pro108Ser)SNV Uncertain significance 471394 rs1555355402 14:77778303-77778303 14:77311960-77311960
41 POMT2 NM_013382.5(POMT2):c.29C>T (p.Ala10Val)SNV Uncertain significance 471393 rs183558313 14:77786996-77786996 14:77320653-77320653
42 POMT2 NM_013382.5(POMT2):c.293A>G (p.Asn98Ser)SNV Uncertain significance 95542 rs368034790 14:77778332-77778332 14:77311989-77311989
43 POMT2 NM_013382.5(POMT2):c.320C>T (p.Pro107Leu)SNV Uncertain significance 95543 rs398124264 14:77778305-77778305 14:77311962-77311962
44 POMT2 NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu)SNV Uncertain significance 194966 rs794727228 14:77745146-77745146 14:77278803-77278803
45 POMT2 NM_013382.5(POMT2):c.148C>G (p.Arg50Gly)SNV Uncertain significance 211948 rs550420394 14:77786877-77786877 14:77320534-77320534
46 POMT2 NM_013382.5(POMT2):c.1920C>T (p.Gly640=)SNV Uncertain significance 281987 rs150755807 14:77745184-77745184 14:77278841-77278841
47 POMT2 NM_013382.5(POMT2):c.656+3C>GSNV Uncertain significance 471396 rs561052172 14:77769175-77769175 14:77302832-77302832
48 POMT2 NM_013382.5(POMT2):c.1467A>T (p.Gly489=)SNV Uncertain significance 471388 rs1555352583 14:77751841-77751841 14:77285498-77285498
49 POMT2 NM_013382.5(POMT2):c.1186C>T (p.Pro396Ser)SNV Uncertain significance 314557 rs764723711 14:77755172-77755172 14:77288829-77288829
50 POMT2 NM_013382.5(POMT2):c.1651C>T (p.Arg551Trp)SNV Uncertain significance 314554 rs751153662 14:77750142-77750142 14:77283799-77283799

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

3 CDC
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