MCID: MSC043
MIFTS: 30

Muscular Dystrophy-Dystroglycanopathy , Type a, 2

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Rare diseases, Metabolic diseases, Fetal diseases, Eye 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 54 13 69
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A2 29
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A2 71
Muscle-Eye-Brain Disease Pomt2-Related 71
Walker-Warburg Syndrome Pomt2-Related 71
Mddga2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
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
variable phenotype


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 : 54
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, and has symptoms including spinal rigidity, scoliosis and macroglossia. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include brain, eye and pons.

UniProtKB/Swiss-Prot : 71 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

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

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
myopia
glaucoma
cataract
microphthalmia (wws)
buphthalmos (wws)
more
Neurologic- Central Nervous System:
hydrocephalus
hypotonia, severe
mental retardation, profound (wws)
mental retardation, severe (meb)
ventricular dilatation
more
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- Head:
microcephaly

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

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:

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

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

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

39
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:

71
id 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 all 12)
id 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.1006+1G> A single nucleotide variant Pathogenic rs533916138 GRCh37 Chromosome 14, 77765031: 77765031
3 POMT2 NM_013382.5(POMT2): c.1261delC (p.Arg421Glyfs) deletion Pathogenic rs587777815 GRCh38 Chromosome 14, 77286815: 77286815
4 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh37 Chromosome 14, 77745107: 77745107
5 POMT2 NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu) single nucleotide variant Pathogenic rs267606969 GRCh37 Chromosome 14, 77743795: 77743795
6 POMT2 NM_013382.5(POMT2): c.1117G> T (p.Val373Phe) single nucleotide variant Pathogenic rs267606965 GRCh37 Chromosome 14, 77757723: 77757723
7 POMT2 NM_013382.5(POMT2): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs267606972 GRCh37 Chromosome 14, 77769241: 77769241
8 POMT2 NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser) single nucleotide variant Pathogenic rs267606970 GRCh37 Chromosome 14, 77762566: 77762566
9 POMT2 POMT2, IVS12AS, G-A, -14 single nucleotide variant Pathogenic
10 POMT2 NM_013382.5(POMT2): c.1445G> T (p.Gly482Val) single nucleotide variant Pathogenic rs267606968 GRCh37 Chromosome 14, 77751863: 77751863
11 POMT2 NM_013382.5(POMT2): c.1045_1052delCGGATGGCinsG (p.Arg349Alafs) indel Pathogenic rs886042094 GRCh37 Chromosome 14, 77762571: 77762578
12 POMT2 NM_013382.5(POMT2): c.1124_1125insAC (p.Tyr376Profs) insertion Pathogenic rs886042401 GRCh37 Chromosome 14, 77757715: 77757716

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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