MCID: MSC043
MIFTS: 23

Muscular Dystrophy-Dystroglycanopathy , Type a, 2 malady

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Rare diseases, Metabolic diseases, Eye diseases, Fetal 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 49 11 65
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A2 67 24
Muscle-Eye-Brain Disease Pomt2-Related 67
 
Walker-Warburg Syndrome Pomt2-Related 67
Mddga2 67

Characteristics:

HPO:

61
muscular dystrophy-dystroglycanopathy , type a, 2:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM49 613150
MedGen34 C3150411
MeSH36 D058494
UMLS65 C3150411

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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OMIM:49 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 eye and brain.

UniProtKB/Swiss-Prot:67 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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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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

33
Eye, Brain

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:

67
id Symbol AA change Variation ID SNP ID
1POMT2p.Ile198AsnVAR_065038
2POMT2p.Gly353SerVAR_065040
3POMT2p.Val373PheVAR_065041
4POMT2p.Arg413ProVAR_065042rs190285831
5POMT2p.Gly482ValVAR_065044
6POMT2p.Tyr666CysVAR_065045
7POMT2p.Gly726GluVAR_065047
8POMT2p.His478ArgVAR_068968

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 variantPathogenicrs200198778GRCh37Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet