MCID: MSC043
MIFTS: 15

Muscular Dystrophy-Dystroglycanopathy , Type a, 2 malady

Genetic diseases, Muscle diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type a, 2 and has symptoms including An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2 is POMT2 (protein-O-mannosyltransferase 2). Affiliated tissues include eye and brain.

Description from OMIM:46 613150

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 2 46


Classifications:



Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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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 34)
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 autosomal recessive inheritance HP:0000007
7 macroglossia HP:0000158
8 hydrocephalus HP:0000238
9 microcephaly HP:0000252
10 cataract HP:0000518
11 hypermetropia HP:0000540
12 myopia HP:0000545
13 buphthalmos HP:0000557
14 microphthalmos HP:0000568
15 peters anomaly HP:0000659
16 seizures HP:0001250
17 pachygyria HP:0001302
18 cerebellar hypoplasia HP:0001321
19 heterogeneous HP:0001425
20 ventriculomegaly HP:0002119
21 polymicrogyria HP:0002126
22 intellectual disability, profound HP:0002187
23 cerebellar cyst HP:0002350
24 hypoplasia of the brainstem HP:0002365
25 scoliosis HP:0002650
26 congenital contracture HP:0002803
27 elevated serum creatine phosphokinase HP:0003236
28 spinal rigidity HP:0003306
29 muscular dystrophy HP:0003560
30 phenotypic variability HP:0003812
31 severe muscular hypotonia HP:0006829
32 cerebellar dysplasia HP:0007033
33 type ii lissencephaly HP:0007260
34 intellectual disability, severe HP:0010864

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

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Drug clinical trials:

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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:

32
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:

64
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:

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1POMT2NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter)single nucleotide variantPathogenicrs119463989GRCh37Chr 14, 77745192: 77745192
2POMT2POMT2, IVS8DS, G-A, +1single nucleotide variantPathogenic
3POMT2POMT2, 1-BP DEL, 1261CdeletionPathogenic
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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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type a, 2

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

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet