MCID: MSC043
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type a, 2 malady

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Metabolic diseases, Rare diseases, Fetal diseases, Eye diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 2 50 12
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A2 68 25
Muscle-Eye-Brain Disease Pomt2-Related 68
 
Walker-Warburg Syndrome Pomt2-Related 68
Mddga2 68

Characteristics:

HPO:

62
muscular dystrophy-dystroglycanopathy , type a, 2:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 613150
MedGen35 C3150411
MeSH37 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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OMIM:50 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 cleft palate, cleft upper lip and encephalocele. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot:68 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

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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:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type a, 110.0

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Symptoms by clinical synopsis from OMIM:

613150

Clinical features from OMIM:

613150

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

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

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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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 A225

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

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

34
Brain, Eye

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type a, 2 or affiliated genes

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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

68
id Symbol AA change Variation ID SNP ID
1POMT2p.Ile198AsnVAR_065038rs267606972
2POMT2p.Gly353SerVAR_065040rs267606970
3POMT2p.Val373PheVAR_065041rs267606965
4POMT2p.Arg413ProVAR_065042rs190285831
5POMT2p.Gly482ValVAR_065044rs267606968
6POMT2p.Tyr666CysVAR_065045rs200198778
7POMT2p.Gly726GluVAR_065047rs267606969
8POMT2p.His478ArgVAR_068968rs765346043

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1POMT2NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter)single nucleotide variantPathogenicrs119463989GRCh37Chr 14, 77745192: 77745192
2POMT2NM_013382.5(POMT2): c.1006+1G> Asingle nucleotide variantPathogenicrs533916138GRCh37Chr 14, 77765031: 77765031
3POMT2NM_013382.5(POMT2): c.1261delC (p.Arg421Glyfs)deletionPathogenicrs587777815GRCh38Chr 14, 77286815: 77286815
4POMT2NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys)single nucleotide variantLikely pathogenic, Pathogenicrs200198778GRCh37Chr 14, 77745107: 77745107
5POMT2NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu)single nucleotide variantPathogenicrs267606969GRCh37Chr 14, 77743795: 77743795
6POMT2NM_013382.5(POMT2): c.1238G> C (p.Arg413Pro)single nucleotide variantPathogenicrs190285831GRCh37Chr 14, 77755120: 77755120
7POMT2NM_013382.5(POMT2): c.1117G> T (p.Val373Phe)single nucleotide variantPathogenicrs267606965GRCh37Chr 14, 77757723: 77757723
8POMT2NM_013382.5(POMT2): c.593T> A (p.Ile198Asn)single nucleotide variantPathogenicrs267606972GRCh37Chr 14, 77769241: 77769241
9POMT2NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser)single nucleotide variantPathogenicrs267606970GRCh37Chr 14, 77762566: 77762566
10POMT2POMT2, IVS12AS, G-A, -14single nucleotide variantPathogenic
11POMT2NM_013382.5(POMT2): c.1445G> T (p.Gly482Val)single nucleotide variantPathogenicrs267606968GRCh37Chr 14, 77751863: 77751863

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 2.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet