MCID: MSC043
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type a, 2 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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 2 52 12 68
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A2 70 27
Muscle-Eye-Brain Disease Pomt2-Related 70
 
Walker-Warburg Syndrome Pomt2-Related 70
Mddga2 70

Characteristics:

HPO:

64
muscular dystrophy-dystroglycanopathy , type a, 2:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 613150
MedGen37 C3150411
MeSH39 D058494

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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OMIM:52 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:70 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, 110.9

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

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Symptoms by clinical synopsis from OMIM:

613150

Clinical features from OMIM:

613150

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

 64 (show all 31)
id Description HPO Frequency HPO Source Accession
1 cleft palate64 rare (5%) HP:0000175
2 cleft upper lip64 rare (5%) HP:0000204
3 encephalocele64 rare (5%) HP:0002084
4 aplasia/hypoplasia of the corpus callosum64 rare (5%) HP:0007370
5 persistent pupillary membrane64 rare (5%) HP:0009917
6 macroglossia64 HP:0000158
7 hydrocephalus64 HP:0000238
8 microcephaly64 HP:0000252
9 cataract64 HP:0000518
10 hypermetropia64 HP:0000540
11 myopia64 HP:0000545
12 buphthalmos64 HP:0000557
13 microphthalmia64 HP:0000568
14 peters anomaly64 HP:0000659
15 seizures64 HP:0001250
16 pachygyria64 HP:0001302
17 cerebellar hypoplasia64 HP:0001321
18 ventriculomegaly64 HP:0002119
19 polymicrogyria64 HP:0002126
20 intellectual disability, profound64 HP:0002187
21 cerebellar cyst64 HP:0002350
22 hypoplasia of the brainstem64 HP:0002365
23 scoliosis64 HP:0002650
24 congenital contracture64 HP:0002803
25 elevated serum creatine phosphokinase64 HP:0003236
26 spinal rigidity64 HP:0003306
27 muscular dystrophy64 HP:0003560
28 severe muscular hypotonia64 HP:0006829
29 cerebellar dysplasia64 HP:0007033
30 type ii lissencephaly64 HP:0007260
31 intellectual disability, severe64 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 A227

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

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

36
Brain, Eye

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:

70
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 13)
id Gene Variation Type Significance SNP ID Assembly Location
1POMT2NM_013382.5(POMT2): c.1045_1052delCGGATGGCinsG (p.Arg349Alafs)indelPathogenicrs886042094GRCh37Chr 14, 77762571: 77762578
2POMT2NM_013382.5(POMT2): c.1124_1125insAC (p.Tyr376Profs)insertionPathogenicrs886042401GRCh37Chr 14, 77757715: 77757716
3POMT2NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter)SNVPathogenicrs119463989GRCh37Chr 14, 77745192: 77745192
4POMT2NM_013382.5(POMT2): c.1006+1G> ASNVPathogenicrs533916138GRCh37Chr 14, 77765031: 77765031
5POMT2NM_013382.5(POMT2): c.1261delC (p.Arg421Glyfs)deletionPathogenicrs587777815GRCh38Chr 14, 77286815: 77286815
6POMT2NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys)SNVLikely pathogenic, Pathogenicrs200198778GRCh37Chr 14, 77745107: 77745107
7POMT2NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu)SNVPathogenicrs267606969GRCh37Chr 14, 77743795: 77743795
8POMT2NM_013382.5(POMT2): c.1238G> C (p.Arg413Pro)SNVPathogenicrs190285831GRCh37Chr 14, 77755120: 77755120
9POMT2NM_013382.5(POMT2): c.1117G> T (p.Val373Phe)SNVPathogenicrs267606965GRCh37Chr 14, 77757723: 77757723
10POMT2NM_013382.5(POMT2): c.593T> A (p.Ile198Asn)SNVPathogenicrs267606972GRCh37Chr 14, 77769241: 77769241
11POMT2NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser)SNVPathogenicrs267606970GRCh37Chr 14, 77762566: 77762566
12POMT2POMT2, IVS12AS, G-A, -14SNVPathogenicChr na, -1: -1
13POMT2NM_013382.5(POMT2): c.1445G> T (p.Gly482Val)SNVPathogenicrs267606968GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet