MDDGA2
MCID: MSC043
MIFTS: 27

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

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

Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 2 54 13 69
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A2 66 29
Muscle-Eye-Brain Disease Pomt2-Related 66
Walker-Warburg Syndrome Pomt2-Related 66
Mddga2 66

Characteristics:

HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 2:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 613150
MedGen 40 C3150411
MeSH 42 D058494

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... (613150) more...

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 2, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a2, is related to muscular dystrophy-dystroglycanopathy , type a, 1, and has symptoms including seizures, hydrocephalus and scoliosis. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include eye and brain.

UniProtKB/Swiss-Prot : 66 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, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type C, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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

id Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 1 10.9

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

Symptoms by clinical synopsis from OMIM:

613150

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

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
Eye, Brain

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:

66
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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34 ICD10 via Orphanet
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42 MeSH
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48 NDF-RT
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65 SNOMED-CT via Orphanet
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68 Tocris
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70 UMLS via Orphanet
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