Congenital Muscular Dystrophy-Dystroglycanopathy A7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CNG551 MIFTS: 16	Congenital Muscular Dystrophy-Dystroglycanopathy A7 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 A7

MalaCards integrated aliases for Congenital Muscular Dystrophy-Dystroglycanopathy A7:

Name: Congenital Muscular Dystrophy-Dystroglycanopathy A7 ¹²

Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A7 ²⁹ ⁶

Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A7 ¹²

Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Ispd-Related ¹²

Mddga7 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:0111234

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Summaries for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Disease Ontology : ¹² A congenital muscular dystrophy-dystroglycanopathy type A that has material basis in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.

MalaCards based summary : Congenital Muscular Dystrophy-Dystroglycanopathy A7, also known as congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a7, is related to muscular dystrophy-dystroglycanopathy , type a, 7. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy A7 is CRPPA (CDP-L-Ribitol Pyrophosphorylase A). Affiliated tissues include eye and brain.

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Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy A7 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	muscular dystrophy-dystroglycanopathy , type a, 7	11.5

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Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Search Clinical Trials , NIH Clinical Center for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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Genetic Tests for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Genetic tests related to Congenital Muscular Dystrophy-Dystroglycanopathy A7:

#	Genetic test	Affiliating Genes
1	Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A7 ²⁹	CRPPA

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Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy A7

MalaCards organs/tissues related to Congenital Muscular Dystrophy-Dystroglycanopathy A7:

⁴⁰

Eye, Brain

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Publications for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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Genes for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Genes related to Congenital Muscular Dystrophy-Dystroglycanopathy A7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CRPPA	CDP-L-Ribitol Pyrophosphorylase A	Protein Coding	500	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Genetic Tests ²⁹

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Variations for Congenital Muscular Dystrophy-Dystroglycanopathy A7

ClinVar genetic disease variations for Congenital Muscular Dystrophy-Dystroglycanopathy A7:

⁶ (show top 50) (show all 71) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CRPPA	NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp)	SNV	Pathogenic	31565	rs387907160	7:16415754-16415754	7:16376129-16376129
2	CRPPA	NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter)	SNV	Pathogenic	31566	rs387907161	7:16341049-16341049	7:16301424-16301424
3	CRPPA	NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro)	SNV	Pathogenic	31567	rs387907162	7:16445856-16445856	7:16406231-16406231
4	CRPPA	NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter)	SNV	Pathogenic	31568	rs368593151	7:16341079-16341079	7:16301454-16301454
5	CRPPA	NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg)	SNV	Pathogenic	39609	rs397515408	7:16415763-16415763	7:16376138-16376138
6	CRPPA	NM_001101426.3(CRPPA):c.535-?_933+?del	deletion	Pathogenic	39610		7:16317753-16415867	7:16278129-16376241
7	CRPPA	NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn)	SNV	Pathogenic	39611	rs397514547	7:16445754-16445754	7:16406129-16406129
8	CRPPA	NM_001101426.4(CRPPA):c.1120-1G>T	SNV	Pathogenic	31561	rs397515396	7:16255823-16255823	7:16216198-16216198
9	CRPPA	NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del	deletion	Pathogenic	31562		7:16401191-16431594	7:16361566-16391969
10	CRPPA	NM_001101426.4(CRPPA):c.789+2T>G	SNV	Pathogenic	31563	rs397515397	7:16348146-16348146	7:16308521-16308521
11	CRPPA	NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter)	SNV	Pathogenic	39613	rs397514548	7:16460692-16460692	7:16421067-16421067
12	CRPPA	NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)	duplication	Pathogenic	279985	rs886041302	7:16460894-16460895	7:16421269-16421270
13	CRPPA	NC_000007.13:g.(?_16341026)_(16348272_?)del	deletion	Pathogenic	473151		7:16341026-16348272
14	CRPPA		deletion	Pathogenic	473152			7:16406061-16406337
15	CRPPA	NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs)	deletion	Pathogenic	473159	rs1554305719	7:16317801-16317813	7:16278176-16278188
16	CRPPA	NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)	SNV	Pathogenic	561034	rs186882839	7:16131322-16131322	7:16091697-16091697
17	CRPPA	NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)	SNV	Pathogenic	561033	rs1202301143	7:16131361-16131361	7:16091736-16091736
18	CRPPA	NC_000007.13:g.(?_16131300)_(16255842_?)del	deletion	Pathogenic	583718		7:16131300-16255842	7:16091675-16216217
19	CRPPA	NC_000007.13:g.(?_16348148)_(16729531_?)del	deletion	Pathogenic	583954		7:16348148-16729531	7:16308523-16689906
20	CRPPA	NC_000007.13:g.(?_16255671)_(16415886_?)del	deletion	Pathogenic	583458		7:16255671-16415886	7:16216046-16376261
21	CRPPA	NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter)	SNV	Pathogenic	656769		7:16348164-16348164	7:16308539-16308539
22	CRPPA	NC_000007.13:g.(?_16348138)_(16415876_?)del	deletion	Pathogenic	663410		7:16348138-16415876	7:16308513-16376251
23	CRPPA	NC_000007.13:g.(?_16341036)_(16348262_?)del	deletion	Pathogenic	656841		7:16341036-16348262	7:16301411-16308637
24	CRPPA	NM_001101426.4(CRPPA):c.258-1G>C	SNV	Pathogenic/Likely pathogenic	287941	rs767978961	7:16445963-16445963	7:16406338-16406338
25	CRPPA	NC_000007.13:g.(?_16298005)_(16298647_?)del	deletion	Likely pathogenic	661726		7:16298005-16298647	7:16258380-16259022
26	CRPPA	NC_000007.13:g.(?_16415697)_(16415886_?)del	deletion	Likely pathogenic	583821		7:16415697-16415886	7:16376072-16376261
27	CRPPA	NM_001101426.4(CRPPA):c.835+2T>C	SNV	Likely pathogenic	582317	rs773325665	7:16341044-16341044	7:16301419-16301419
28	CRPPA	NC_000007.13:g.(?_16297995)_(16298657_?)del	deletion	Likely pathogenic	540374		7:16297995-16298657	7:16258370-16259032
29	CRPPA	NM_001101426.4(CRPPA):c.933+3A>G	SNV	Conflicting interpretations of pathogenicity	387587	rs377582530	7:16317751-16317751	7:16278126-16278126
30	CRPPA	NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln)	SNV	Conflicting interpretations of pathogenicity	289677	rs773739293	7:16415850-16415850	7:16376225-16376225
31	CRPPA	NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)	SNV	Conflicting interpretations of pathogenicity	193158	rs558064127	7:16460869-16460869	7:16421244-16421244
32	CRPPA	NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)	deletion	Conflicting interpretations of pathogenicity	31564	rs397515398	7:16445941-16445943	7:16406316-16406318
33	CRPPA	NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile)	SNV	Uncertain significance	39612	rs397515409	7:16348224-16348224	7:16308599-16308599
34	CRPPA	NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe)	SNV	Uncertain significance	289678	rs200334999	7:16341073-16341073	7:16301448-16301448
35	CRPPA	NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly)	SNV	Uncertain significance	290098	rs547473863	7:16317806-16317806	7:16278181-16278181
36	CRPPA	NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg)	SNV	Uncertain significance	373694	rs373890080	7:16317792-16317792	7:16278167-16278167
37	CRPPA	NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg)	SNV	Uncertain significance	282161	rs202108204	7:16445688-16445688	7:16406063-16406063
38	CRPPA	NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile)	SNV	Uncertain significance	285066	rs199691459	7:16445900-16445900	7:16406275-16406275
39	CRPPA	NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro)	SNV	Uncertain significance	287450	rs886043637	7:16460748-16460748	7:16421123-16421123
40	CRPPA	NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val)	SNV	Uncertain significance	447580	rs762370550	7:16445943-16445943	7:16406318-16406318
41	CRPPA	NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly)	SNV	Uncertain significance	288847	rs370397489	7:16317773-16317773	7:16278148-16278148
42	CRPPA	NC_000007.13:g.(?_16255671)_(16255842_?)del	deletion	Uncertain significance	540375		7:16255671-16255842	7:16216046-16216217
43	CRPPA	NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys)	SNV	Uncertain significance	540370	rs202126749	7:16298586-16298586	7:16258961-16258961
44	CRPPA	NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met)	SNV	Uncertain significance	574208	rs373422736	7:16298581-16298581	7:16258956-16258956
45	CRPPA	NM_001101426.4(CRPPA):c.816G>A (p.Ala272=)	SNV	Uncertain significance	473158	rs754348253	7:16341065-16341065	7:16301440-16301440
46	CRPPA	NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu)	SNV	Uncertain significance	473157	rs369193825	7:16348161-16348161	7:16308536-16308536
47	CRPPA	NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln)	SNV	Uncertain significance	473155	rs1356080750	7:16445864-16445864	7:16406239-16406239
48	CRPPA	NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser)	SNV	Uncertain significance	473153	rs369832637	7:16298561-16298561	7:16258936-16258936
49	CRPPA	NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu)	SNV	Uncertain significance	473156	rs770257307	7:16348244-16348244	7:16308619-16308619
50	CRPPA	NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp)	SNV	Uncertain significance	497567	rs1008210645	7:16415765-16415765	7:16376140-16376140

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Expression for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Search GEO for disease gene expression data for Congenital Muscular Dystrophy-Dystroglycanopathy A7.

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Pathways for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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