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 58 76 13 74
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A2 30 6
Mddga2 58 76
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A2 76
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt2-Related 58
Muscle-Eye-Brain Disease Pomt2-Related 76
Walker-Warburg Syndrome Pomt2-Related 76

Characteristics:

OMIM:

58
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:

33
muscular dystrophy-dystroglycanopathy , type a, 2:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

OMIM : 58 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 eye, brain and pons, and related phenotypes are cleft palate and cleft upper lip

UniProtKB/Swiss-Prot : 76 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

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

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

33 (show all 31)
# Description HPO Frequency HPO Source Accession
1 cleft palate 33 occasional (7.5%) HP:0000175
2 cleft upper lip 33 occasional (7.5%) HP:0000204
3 aplasia/hypoplasia of the corpus callosum 33 occasional (7.5%) HP:0007370
4 encephalocele 33 occasional (7.5%) HP:0002084
5 persistent pupillary membrane 33 occasional (7.5%) HP:0009917
6 hydrocephalus 33 HP:0000238
7 seizures 33 HP:0001250
8 scoliosis 33 HP:0002650
9 macroglossia 33 HP:0000158
10 cataract 33 HP:0000518
11 microcephaly 33 HP:0000252
12 intellectual disability, severe 33 HP:0010864
13 myopia 33 HP:0000545
14 spinal rigidity 33 HP:0003306
15 ventriculomegaly 33 HP:0002119
16 cerebellar hypoplasia 33 HP:0001321
17 microphthalmia 33 HP:0000568
18 buphthalmos 33 HP:0000557
19 intellectual disability, profound 33 HP:0002187
20 pachygyria 33 HP:0001302
21 polymicrogyria 33 HP:0002126
22 severe muscular hypotonia 33 HP:0006829
23 cerebellar dysplasia 33 HP:0007033
24 muscular dystrophy 33 HP:0003560
25 congenital contracture 33 HP:0002803
26 hypermetropia 33 HP:0000540
27 peters anomaly 33 HP:0000659
28 cerebellar cyst 33 HP:0002350
29 type ii lissencephaly 33 HP:0007260
30 hypoplasia of the brainstem 33 HP:0002365
31 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

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 30 POMT2

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

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

42
Eye, Brain, Pons

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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

# Title Authors Year
1
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. ( 19138766 )
2009
2
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. ( 19299310 )
2009
3
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. ( 17634419 )
2007
4
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. ( 17878207 )
2007
5
POMT2 mutation in a patient with 'MEB-like' phenotype. ( 16701995 )
2006
6
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. ( 15894594 )
2005

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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

76
# 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 198)
# 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.2242T> C (p.Trp748Arg) single nucleotide variant Uncertain significance rs267606964 GRCh37 Chromosome 14, 77743730: 77743730
12 POMT2 NM_013382.5(POMT2): c.2242T> C (p.Trp748Arg) single nucleotide variant Uncertain significance rs267606964 GRCh38 Chromosome 14, 77277387: 77277387
13 POMT2 NM_013382.5(POMT2): c.1238G> C (p.Arg413Pro) single nucleotide variant Uncertain significance rs190285831 GRCh37 Chromosome 14, 77755120: 77755120
14 POMT2 NM_013382.5(POMT2): c.1238G> C (p.Arg413Pro) single nucleotide variant Uncertain significance rs190285831 GRCh38 Chromosome 14, 77288777: 77288777
15 POMT2 NM_013382.5(POMT2): c.1117G> T (p.Val373Phe) single nucleotide variant Pathogenic rs267606965 GRCh37 Chromosome 14, 77757723: 77757723
16 POMT2 NM_013382.5(POMT2): c.1117G> T (p.Val373Phe) single nucleotide variant Pathogenic rs267606965 GRCh38 Chromosome 14, 77291380: 77291380
17 POMT2 NM_013382.5(POMT2): c.593T> A (p.Ile198Asn) single nucleotide variant Uncertain significance rs267606972 GRCh37 Chromosome 14, 77769241: 77769241
18 POMT2 NM_013382.5(POMT2): c.593T> A (p.Ile198Asn) single nucleotide variant Uncertain significance rs267606972 GRCh38 Chromosome 14, 77302898: 77302898
19 POMT2 NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser) single nucleotide variant Pathogenic rs267606970 GRCh37 Chromosome 14, 77762566: 77762566
20 POMT2 NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser) single nucleotide variant Pathogenic rs267606970 GRCh38 Chromosome 14, 77296223: 77296223
21 POMT2 POMT2, IVS12AS, G-A, -14 single nucleotide variant Pathogenic
22 POMT2 NM_013382.5(POMT2): c.1445G> T (p.Gly482Val) single nucleotide variant Pathogenic rs267606968 GRCh37 Chromosome 14, 77751863: 77751863
23 POMT2 NM_013382.5(POMT2): c.1445G> T (p.Gly482Val) single nucleotide variant Pathogenic rs267606968 GRCh38 Chromosome 14, 77285520: 77285520
24 POMT2 NM_013382.5(POMT2): c.1045C> T (p.Arg349Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141339355 GRCh37 Chromosome 14, 77762578: 77762578
25 POMT2 NM_013382.5(POMT2): c.1045C> T (p.Arg349Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141339355 GRCh38 Chromosome 14, 77296235: 77296235
26 POMT2 NM_013382.5(POMT2): c.1045C> T (p.Arg349Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141339355 NCBI36 Chromosome 14, 76832331: 76832331
27 POMT2 NM_013382.5(POMT2): c.1417C> T (p.Arg473Ter) single nucleotide variant Pathogenic rs368817785 GRCh37 Chromosome 14, 77751891: 77751891
28 POMT2 NM_013382.5(POMT2): c.1417C> T (p.Arg473Ter) single nucleotide variant Pathogenic rs368817785 GRCh38 Chromosome 14, 77285548: 77285548
29 POMT2 NM_013382.5(POMT2): c.232G> C (p.Glu78Gln) single nucleotide variant Uncertain significance rs151103906 GRCh37 Chromosome 14, 77786793: 77786793
30 POMT2 NM_013382.5(POMT2): c.232G> C (p.Glu78Gln) single nucleotide variant Uncertain significance rs151103906 GRCh38 Chromosome 14, 77320450: 77320450
31 POMT2 NM_013382.5(POMT2): c.293A> G (p.Asn98Ser) single nucleotide variant Uncertain significance rs368034790 GRCh37 Chromosome 14, 77778332: 77778332
32 POMT2 NM_013382.5(POMT2): c.293A> G (p.Asn98Ser) single nucleotide variant Uncertain significance rs368034790 GRCh38 Chromosome 14, 77311989: 77311989
33 POMT2 NM_013382.5(POMT2): c.320C> T (p.Pro107Leu) single nucleotide variant Uncertain significance rs398124264 GRCh37 Chromosome 14, 77778305: 77778305
34 POMT2 NM_013382.5(POMT2): c.320C> T (p.Pro107Leu) single nucleotide variant Uncertain significance rs398124264 GRCh38 Chromosome 14, 77311962: 77311962
35 POMT2 NM_013382.5(POMT2): c.924-10C> T single nucleotide variant Benign/Likely benign rs142122657 GRCh37 Chromosome 14, 77765124: 77765124
36 POMT2 NM_013382.5(POMT2): c.924-10C> T single nucleotide variant Benign/Likely benign rs142122657 GRCh38 Chromosome 14, 77298781: 77298781
37 POMT2 NM_013382.5(POMT2): c.1911G> T (p.Leu637=) single nucleotide variant Benign rs3209079 GRCh38 Chromosome 14, 77278850: 77278850
38 POMT2 NM_013382.5(POMT2): c.1911G> T (p.Leu637=) single nucleotide variant Benign rs3209079 GRCh37 Chromosome 14, 77745193: 77745193
39 POMT2 NM_013382.5(POMT2): c.161C> A (p.Ala54Glu) single nucleotide variant Benign/Likely benign rs8177536 GRCh37 Chromosome 14, 77786864: 77786864
40 POMT2 NM_013382.5(POMT2): c.161C> A (p.Ala54Glu) single nucleotide variant Benign/Likely benign rs8177536 GRCh38 Chromosome 14, 77320521: 77320521
41 POMT2 NM_013382.5(POMT2): c.1383A> G (p.Arg461=) single nucleotide variant Benign rs2270419 GRCh37 Chromosome 14, 77751925: 77751925
42 POMT2 NM_013382.5(POMT2): c.1383A> G (p.Arg461=) single nucleotide variant Benign rs2270419 GRCh38 Chromosome 14, 77285582: 77285582
43 POMT2 NM_013382.5(POMT2): c.2175C> T (p.Tyr725=) single nucleotide variant Benign rs116434191 GRCh37 Chromosome 14, 77743797: 77743797
44 POMT2 NM_013382.5(POMT2): c.2175C> T (p.Tyr725=) single nucleotide variant Benign rs116434191 GRCh38 Chromosome 14, 77277454: 77277454
45 POMT2 NM_013382.5(POMT2): c.1261C> T (p.Arg421Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs727502855 GRCh38 Chromosome 14, 77286815: 77286815
46 POMT2 NM_013382.5(POMT2): c.1261C> T (p.Arg421Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs727502855 GRCh37 Chromosome 14, 77753158: 77753158
47 POMT2 NM_013382.5(POMT2): c.1683T> C (p.Asn561=) single nucleotide variant Benign/Likely benign rs146307965 GRCh37 Chromosome 14, 77746777: 77746777
48 POMT2 NM_013382.5(POMT2): c.1683T> C (p.Asn561=) single nucleotide variant Benign/Likely benign rs146307965 GRCh38 Chromosome 14, 77280434: 77280434
49 POMT2 NM_013382.5(POMT2): c.1262G> A (p.Arg421Gln) single nucleotide variant Benign/Likely benign rs151078549 GRCh37 Chromosome 14, 77753157: 77753157
50 POMT2 NM_013382.5(POMT2): c.1262G> A (p.Arg421Gln) single nucleotide variant Benign/Likely benign rs151078549 GRCh38 Chromosome 14, 77286814: 77286814

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

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