MDDGA2
MCID: MSC043
MIFTS: 29

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 57 74 13 72
Mddga2 57 74
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A2 74
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt2-Related 57
Muscle-Eye-Brain Disease Pomt2-Related 74
Walker-Warburg Syndrome Pomt2-Related 74

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:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

MeSH 44 D058494
MedGen 42 C3150411
UMLS 72 C3150411

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, 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 : 74 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:

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

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

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:

41
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. 8 71
19138766 2009
2
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 8 71
19299310 2009
3
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 8 71
17878207 2007
4
POMT2 mutation in a patient with 'MEB-like' phenotype. 8 71
16701995 2006
5
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 8 71
15894594 2005
6
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. 8
19067344 2008
7
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. 71
17634419 2007
8
Congenital Muscular Dystrophy Overview 71
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 122)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POMT2 NM_013382.5(POMT2): c.924-2A> C single nucleotide variant Pathogenic rs886044256 14:77765116-77765116 14:77298773-77298773
2 POMT2 NM_013382.5(POMT2): c.1293dup (p.Met432fs) duplication Pathogenic rs1555352706 14:77753126-77753126 14:77286783-77286783
3 POMT2 NM_013382.5(POMT2): c.648C> A (p.Cys216Ter) single nucleotide variant Pathogenic rs147871747 14:77769186-77769186 14:77302843-77302843
4 POMT2 NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter) single nucleotide variant Pathogenic rs119463989 14:77745192-77745192 14:77278849-77278849
5 POMT2 NM_013382.5(POMT2): c.1006+1G> A single nucleotide variant Pathogenic rs533916138 14:77765031-77765031 14:77298688-77298688
6 POMT2 NM_013382.5(POMT2): c.1261del (p.Arg421fs) deletion Pathogenic rs587777815 14:77753158-77753158 14:77286815-77286815
7 POMT2 NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu) single nucleotide variant Pathogenic rs267606969 14:77743795-77743795 14:77277452-77277452
8 POMT2 NM_013382.5(POMT2): c.1117G> T (p.Val373Phe) single nucleotide variant Pathogenic rs267606965 14:77757723-77757723 14:77291380-77291380
9 POMT2 NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser) single nucleotide variant Pathogenic rs267606970 14:77762566-77762566 14:77296223-77296223
10 POMT2 POMT2, IVS12AS, G-A, -14 single nucleotide variant Pathogenic
11 POMT2 NM_013382.5(POMT2): c.1445G> T (p.Gly482Val) single nucleotide variant Pathogenic rs267606968 14:77751863-77751863 14:77285520-77285520
12 POMT2 NM_013382.5(POMT2): c.1417C> T (p.Arg473Ter) single nucleotide variant Pathogenic rs368817785 14:77751891-77751891 14:77285548-77285548
13 POMT2 NM_013382.5(POMT2): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs775932206 14:77765080-77765080 14:77298737-77298737
14 POMT2 NM_013382.5(POMT2): c.673del (p.Trp225fs) deletion Pathogenic 14:77767576-77767576 14:77301233-77301233
15 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 14:77745107-77745107 14:77278764-77278764
16 POMT2 NM_013382.5(POMT2): c.1752_1753CA[1] (p.Thr585fs) short repeat Likely pathogenic rs1555351894 14:77746394-77746395 14:77280051-77280052
17 POMT2 NM_013382.5(POMT2): c.1485-2_1485-1del deletion Likely pathogenic 14:77751385-77751386 14:77285042-77285043
18 POMT2 NM_013382.5(POMT2): c.248+1G> C single nucleotide variant Likely pathogenic 14:77786776-77786776 14:77320433-77320433
19 POMT2 NM_013382.5(POMT2): c.1935C> T (p.Leu645=) single nucleotide variant Conflicting interpretations of pathogenicity rs141193672 14:77745169-77745169 14:77278826-77278826
20 POMT2 NM_013382.5(POMT2): c.66C> T (p.Gly22=) single nucleotide variant Conflicting interpretations of pathogenicity rs200670377 14:77786959-77786959 14:77320616-77320616
21 POMT2 NM_013382.5(POMT2): c.652G> A (p.Asp218Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140785104 14:77769182-77769182 14:77302839-77302839
22 POMT2 NM_013382.5(POMT2): c.1537A> G (p.Asn513Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs117173425 14:77751332-77751332 14:77284989-77284989
23 POMT2 NM_013382.5(POMT2): c.1250A> G (p.Lys417Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs147268052 14:77755108-77755108 14:77288765-77288765
24 POMT2 NM_013382.5(POMT2): c.649G> A (p.Ala217Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144748043 14:77769185-77769185 14:77302842-77302842
25 POMT2 NM_013382.5(POMT2): c.1654-8T> G single nucleotide variant Conflicting interpretations of pathogenicity rs780532724 14:77746814-77746814 14:77280471-77280471
26 POMT2 NM_013382.5(POMT2): c.1824C> T (p.Tyr608=) single nucleotide variant Conflicting interpretations of pathogenicity rs759220971 14:77746233-77746233 14:77279890-77279890
27 POMT2 NM_013382.5(POMT2): c.1397G> A (p.Arg466Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138266415 14:77751911-77751911 14:77285568-77285568
28 POMT2 NM_013382.5(POMT2): c.1017C> T (p.Tyr339=) single nucleotide variant Conflicting interpretations of pathogenicity rs1026361359 14:77762606-77762606 14:77296263-77296263
29 POMT2 NM_013382.5(POMT2): c.1045C> T (p.Arg349Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141339355 14:77762578-77762578 14:77296235-77296235
30 POMT2 NM_013382.5(POMT2): c.1261C> T (p.Arg421Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs727502855 14:77753158-77753158 14:77286815-77286815
31 POMT2 NM_013382.5(POMT2): c.1404A> G (p.Lys468=) single nucleotide variant Conflicting interpretations of pathogenicity rs150491326 14:77751904-77751904 14:77285561-77285561
32 POMT2 NM_013382.5(POMT2): c.1701C> G (p.Pro567=) single nucleotide variant Conflicting interpretations of pathogenicity rs151051452 14:77746759-77746759 14:77280416-77280416
33 POMT2 NM_013382.5(POMT2): c.1881G> A (p.Ala627=) single nucleotide variant Conflicting interpretations of pathogenicity rs146588608 14:77746176-77746176 14:77279833-77279833
34 POMT2 NM_013382.5(POMT2): c.1903G> A (p.Val635Ile) single nucleotide variant Uncertain significance rs142299878 14:77745201-77745201 14:77278858-77278858
35 POMT2 NM_013382.5(POMT2): c.1958C> T (p.Pro653Leu) single nucleotide variant Uncertain significance rs794727228 14:77745146-77745146 14:77278803-77278803
36 POMT2 NM_013382.5(POMT2): c.232G> C (p.Glu78Gln) single nucleotide variant Uncertain significance rs151103906 14:77786793-77786793 14:77320450-77320450
37 POMT2 NM_013382.5(POMT2): c.293A> G (p.Asn98Ser) single nucleotide variant Uncertain significance rs368034790 14:77778332-77778332 14:77311989-77311989
38 POMT2 NM_013382.5(POMT2): c.320C> T (p.Pro107Leu) single nucleotide variant Uncertain significance rs398124264 14:77778305-77778305 14:77311962-77311962
39 POMT2 NM_013382.5(POMT2): c.1186C> T (p.Pro396Ser) single nucleotide variant Uncertain significance rs764723711 14:77755172-77755172 14:77288829-77288829
40 POMT2 NM_013382.5(POMT2): c.1651C> T (p.Arg551Trp) single nucleotide variant Uncertain significance rs751153662 14:77750142-77750142 14:77283799-77283799
41 POMT2 NM_013382.5(POMT2): c.1396C> T (p.Arg466Trp) single nucleotide variant Uncertain significance rs763119319 14:77751912-77751912 14:77285569-77285569
42 POMT2 NM_013382.5(POMT2): c.2148-6T> A single nucleotide variant Uncertain significance 14:77743830-77743830 14:77277487-77277487
43 POMT2 NM_013382.5(POMT2): c.2087C> T (p.Pro696Leu) single nucleotide variant Uncertain significance 14:77744797-77744797 14:77278454-77278454
44 POMT2 NM_013382.5(POMT2): c.1653+4T> G single nucleotide variant Uncertain significance 14:77750136-77750136 14:77283793-77283793
45 POMT2 NM_013382.5(POMT2): c.1604A> T (p.Gln535Leu) single nucleotide variant Uncertain significance 14:77750189-77750189 14:77283846-77283846
46 POMT2 NM_013382.5(POMT2): c.1540T> A (p.Ser514Thr) single nucleotide variant Uncertain significance 14:77751329-77751329 14:77284986-77284986
47 POMT2 NM_013382.5(POMT2): c.1424G> A (p.Arg475His) single nucleotide variant Uncertain significance 14:77751884-77751884 14:77285541-77285541
48 POMT2 NM_013382.5(POMT2): c.242A> G (p.His81Arg) single nucleotide variant Uncertain significance 14:77786783-77786783 14:77320440-77320440
49 POMT2 NM_013382.5(POMT2): c.160G> T (p.Ala54Ser) single nucleotide variant Uncertain significance 14:77786865-77786865 14:77320522-77320522
50 POMT2 NM_013382.5(POMT2): c.133C> T (p.Pro45Ser) single nucleotide variant Uncertain significance 14:77786892-77786892 14:77320549-77320549

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

74
# 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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