MCID: CNG557
MIFTS: 16

Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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

Aliases & Classifications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 12
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A2 29 6
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A2 12
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt2-Related 12
Mddga2 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111240

Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Disease Ontology : 12 A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy Type A2, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a2, is related to muscular dystrophy-dystroglycanopathy , type a, 2. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include eye and brain.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Congenital Muscular Dystrophy-Dystroglycanopathy Type a Congenital Muscular Dystrophy-Dystroglycanopathy Type A11
Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9
Congenital Muscular Dystrophy-Dystroglycanopathy A14 Congenital Muscular Dystrophy-Dystroglycanopathy A7
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 2 11.5

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Genetic tests related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A2 29 POMT2

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POMT2 NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter)SNV Pathogenic 3218 rs119463989 14:77745192-77745192 14:77278849-77278849
2 POMT2 NM_013382.5(POMT2):c.1006+1G>ASNV Pathogenic 3219 rs533916138 14:77765031-77765031 14:77298688-77298688
3 POMT2 NM_013382.5(POMT2):c.1261del (p.Arg421fs)deletion Pathogenic 3220 rs587777815 14:77753158-77753158 14:77286815-77286815
4 POMT2 NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser)SNV Pathogenic 3231 rs267606970 14:77762566-77762566 14:77296223-77296223
5 POMT2 POMT2, IVS12AS, G-A, -14SNV Pathogenic 3235
6 POMT2 NM_013382.5(POMT2):c.1445G>T (p.Gly482Val)SNV Pathogenic 3236 rs267606968 14:77751863-77751863 14:77285520-77285520
7 POMT2 NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter)SNV Pathogenic 95535 rs368817785 14:77751891-77751891 14:77285548-77285548
8 POMT2 NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu)SNV Pathogenic 3222 rs267606969 14:77743795-77743795 14:77277452-77277452
9 POMT2 NM_013382.5(POMT2):c.1117G>T (p.Val373Phe)SNV Pathogenic 3226 rs267606965 14:77757723-77757723 14:77291380-77291380
10 POMT2 NM_013382.5(POMT2):c.924-2A>CSNV Pathogenic 449378 rs886044256 14:77765116-77765116 14:77298773-77298773
11 POMT2 NM_013382.5(POMT2):c.958C>T (p.Gln320Ter)SNV Pathogenic 289683 rs775932206 14:77765080-77765080 14:77298737-77298737
12 POMT2 NM_013382.5(POMT2):c.1293dup (p.Met432fs)duplication Pathogenic 538734 rs1555352706 14:77753125-77753126 14:77286782-77286783
13 POMT2 NM_013382.5(POMT2):c.648C>A (p.Cys216Ter)SNV Pathogenic 538730 rs147871747 14:77769186-77769186 14:77302843-77302843
14 POMT2 NM_013382.5(POMT2):c.673del (p.Trp225fs)deletion Pathogenic 649496 14:77767576-77767576 14:77301233-77301233
15 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys)SNV Pathogenic/Likely pathogenic 3221 rs200198778 14:77745107-77745107 14:77278764-77278764
16 POMT2 NM_013382.5(POMT2):c.1485-2_1485-1deldeletion Likely pathogenic 579922 rs1185491348 14:77751385-77751386 14:77285042-77285043
17 POMT2 NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs)short repeat Likely pathogenic 538732 rs1555351894 14:77746394-77746395 14:77280051-77280052
18 POMT2 NM_013382.5(POMT2):c.248+1G>CSNV Likely pathogenic 579369 rs961440747 14:77786776-77786776 14:77320433-77320433
19 POMT2 NM_013382.5(POMT2):c.1397G>A (p.Arg466Gln)SNV Conflicting interpretations of pathogenicity 471387 rs138266415 14:77751911-77751911 14:77285568-77285568
20 POMT2 NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg)SNV Conflicting interpretations of pathogenicity 260291 rs147268052 14:77755108-77755108 14:77288765-77288765
21 POMT2 NM_013382.5(POMT2):c.1261C>T (p.Arg421Trp)SNV Conflicting interpretations of pathogenicity 162597 rs727502855 14:77753158-77753158 14:77286815-77286815
22 POMT2 NM_013382.5(POMT2):c.1903G>A (p.Val635Ile)SNV Conflicting interpretations of pathogenicity 194965 rs142299878 14:77745201-77745201 14:77278858-77278858
23 POMT2 NM_013382.5(POMT2):c.232G>C (p.Glu78Gln)SNV Conflicting interpretations of pathogenicity 95541 rs151103906 14:77786793-77786793 14:77320450-77320450
24 POMT2 NM_013382.5(POMT2):c.1654-8T>GSNV Conflicting interpretations of pathogenicity 283033 rs780532724 14:77746814-77746814 14:77280471-77280471
25 POMT2 NM_013382.5(POMT2):c.1732C>T (p.Arg578Cys)SNV Uncertain significance 283109 rs148466370 14:77746417-77746417 14:77280074-77280074
26 POMT2 NM_013382.5(POMT2):c.1711C>T (p.Pro571Ser)SNV Uncertain significance 284056 rs771812476 14:77746749-77746749 14:77280406-77280406
27 POMT2 NM_013382.5(POMT2):c.1871G>A (p.Arg624Gln)SNV Uncertain significance 284970 rs369365744 14:77746186-77746186 14:77279843-77279843
28 POMT2 NM_013382.5(POMT2):c.295C>T (p.Arg99Cys)SNV Uncertain significance 285067 rs199719668 14:77778330-77778330 14:77311987-77311987
29 POMT2 NM_013382.5(POMT2):c.621G>A (p.Met207Ile)SNV Uncertain significance 285222 rs551885065 14:77769213-77769213 14:77302870-77302870
30 POMT2 NM_013382.5(POMT2):c.825G>A (p.Val275=)SNV Uncertain significance 288761 rs779272258 14:77765896-77765896 14:77299553-77299553
31 POMT2 NM_013382.5(POMT2):c.593T>A (p.Ile198Asn)SNV Uncertain significance 3227 rs267606972 14:77769241-77769241 14:77302898-77302898
32 POMT2 NM_013382.5(POMT2):c.2242T>C (p.Trp748Arg)SNV Uncertain significance 3224 rs267606964 14:77743730-77743730 14:77277387-77277387
33 POMT2 NM_013382.5(POMT2):c.1238G>C (p.Arg413Pro)SNV Uncertain significance 3225 rs190285831 14:77755120-77755120 14:77288777-77288777
34 POMT2 NM_013382.5(POMT2):c.134C>G (p.Pro45Arg)SNV Uncertain significance 451230 rs753037500 14:77786891-77786891 14:77320548-77320548
35 POMT2 NM_013382.5(POMT2):c.128A>G (p.Lys43Arg)SNV Uncertain significance 451573 rs745417690 14:77786897-77786897 14:77320554-77320554
36 POMT2 NM_013382.5(POMT2):c.2228G>T (p.Arg743Met)SNV Uncertain significance 471392 rs767359121 14:77743744-77743744 14:77277401-77277401
37 POMT2 NM_013382.5(POMT2):c.1828C>T (p.Leu610Phe)SNV Uncertain significance 471391 rs1555351859 14:77746229-77746229 14:77279886-77279886
38 POMT2 NM_013382.5(POMT2):c.1042C>G (p.Leu348Val)SNV Uncertain significance 471386 rs1158227625 14:77762581-77762581 14:77296238-77296238
39 POMT2 NM_013382.5(POMT2):c.1645A>G (p.Met549Val)SNV Uncertain significance 471390 rs1555352401 14:77750148-77750148 14:77283805-77283805
40 POMT2 NM_013382.5(POMT2):c.322C>T (p.Pro108Ser)SNV Uncertain significance 471394 rs1555355402 14:77778303-77778303 14:77311960-77311960
41 POMT2 NM_013382.5(POMT2):c.29C>T (p.Ala10Val)SNV Uncertain significance 471393 rs183558313 14:77786996-77786996 14:77320653-77320653
42 POMT2 NM_013382.5(POMT2):c.293A>G (p.Asn98Ser)SNV Uncertain significance 95542 rs368034790 14:77778332-77778332 14:77311989-77311989
43 POMT2 NM_013382.5(POMT2):c.320C>T (p.Pro107Leu)SNV Uncertain significance 95543 rs398124264 14:77778305-77778305 14:77311962-77311962
44 POMT2 NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu)SNV Uncertain significance 194966 rs794727228 14:77745146-77745146 14:77278803-77278803
45 POMT2 NM_013382.5(POMT2):c.148C>G (p.Arg50Gly)SNV Uncertain significance 211948 rs550420394 14:77786877-77786877 14:77320534-77320534
46 POMT2 NM_013382.5(POMT2):c.1920C>T (p.Gly640=)SNV Uncertain significance 281987 rs150755807 14:77745184-77745184 14:77278841-77278841
47 POMT2 NM_013382.5(POMT2):c.656+3C>GSNV Uncertain significance 471396 rs561052172 14:77769175-77769175 14:77302832-77302832
48 POMT2 NM_013382.5(POMT2):c.1467A>T (p.Gly489=)SNV Uncertain significance 471388 rs1555352583 14:77751841-77751841 14:77285498-77285498
49 POMT2 NM_013382.5(POMT2):c.1186C>T (p.Pro396Ser)SNV Uncertain significance 314557 rs764723711 14:77755172-77755172 14:77288829-77288829
50 POMT2 NM_013382.5(POMT2):c.1651C>T (p.Arg551Trp)SNV Uncertain significance 314554 rs751153662 14:77750142-77750142 14:77283799-77283799

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2.

Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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