Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Muscle diseases Neuronal diseases Eye diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111240

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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.

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Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

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

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Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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

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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

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Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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

⁴⁰

Eye, Brain

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Publications for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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Genes for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Genes related to Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	POMT2	Protein O-Mannosyltransferase 2	Protein Coding	500	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Genetic Tests ²⁹

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Variations for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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

⁶ (show top 50) (show all 103) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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>A	SNV	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, -14	SNV	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>C	SNV	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_1485-1del	deletion	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>C	SNV	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>G	SNV	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>G	SNV	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

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Expression for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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

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Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

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