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

MCID: CNG551 MIFTS: 24	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 Pathways 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 ¹⁵

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 and muscular dystrophy-dystroglycanopathy. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy A7 is CRPPA (CDP-L-Ribitol Pyrophosphorylase A), and among its related pathways/superpathways is Mannose type O-glycan biosynthesis. 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:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	muscular dystrophy-dystroglycanopathy , type a, 7	11.5
2	muscular dystrophy-dystroglycanopathy	9.7	FKTN CRPPA
3	congenital muscular dystrophy without intellectual disability	9.7	FKTN CRPPA
4	muscular dystrophy-dystroglycanopathy , type c, 7	9.7	FKTN CRPPA
5	muscular dystrophy-dystroglycanopathy , type c, 3	9.7	FKTN CRPPA
6	cobblestone lissencephaly	9.6	FKTN CRPPA
7	lissencephaly	9.6	FKTN CRPPA
8	congenital muscular dystrophy-dystroglycanopathy type a	9.6	FKTN CRPPA
9	muscle eye brain disease	9.5	FKTN CRPPA
10	walker-warburg syndrome	9.4	LEMD3 FKTN CRPPA
11	muscular dystrophy, congenital, lmna-related	9.3	LEMD3 FKTN CRPPA
12	muscular dystrophy-dystroglycanopathy , type a, 4	9.3	FKTN CRPPA

Graphical network of the top 20 diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy A7:

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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
1	CRPPA	CDP-L-Ribitol Pyrophosphorylase A	Protein Coding	507.09	Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵
2	LEMD3	LEM Domain Containing 3	Protein Coding	6.2	DISEASES inferred ¹⁵
3	SPSB2	SplA/Ryanodine Receptor Domain And SOCS Box Containing 2	Protein Coding	6.12	DISEASES inferred ¹⁵
4	RAB11FIP3	RAB11 Family Interacting Protein 3	Protein Coding	5.95	DISEASES inferred ¹⁵
5	FKTN	Fukutin	Protein Coding	5.93	DISEASES inferred ¹⁵
6	SPSB1	SplA/Ryanodine Receptor Domain And SOCS Box Containing 1	Protein Coding	5.92	DISEASES inferred ¹⁵

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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 103) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CRPPA	NC_000007.13:g.(?_16341026)_(16348272_?)del	deletion	Pathogenic	473151		7:16341026-16348272
2	CRPPA	NC_000007.14:g.(?_16406061)_(16406337_?)del	deletion	Pathogenic	473152			7:16406061-16406337
3	CRPPA	NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs)	deletion	Pathogenic	473159	rs1554305719	7:16317801-16317813	7:16278176-16278188
4	CRPPA	NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)	SNV	Pathogenic	561034	rs186882839	7:16131322-16131322	7:16091697-16091697
5	CRPPA	NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)	SNV	Pathogenic	561033	rs1202301143	7:16131361-16131361	7:16091736-16091736
6	CRPPA	NC_000007.14:g.(?_16091675)_(16216217_?)del	deletion	Pathogenic	583718		7:16131300-16255842	7:16091675-16216217
7	CRPPA	NC_000007.14:g.(?_16308523)_(16689906_?)del	deletion	Pathogenic	583954		7:16348148-16729531	7:16308523-16689906
8	CRPPA	NC_000007.14:g.(?_16216046)_(16376261_?)del	deletion	Pathogenic	583458		7:16255671-16415886	7:16216046-16376261
9	CRPPA	NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter)	SNV	Pathogenic	656769		7:16348164-16348164	7:16308539-16308539
10	CRPPA	NC_000007.14:g.(?_16308513)_(16376251_?)del	deletion	Pathogenic	663410		7:16348138-16415876	7:16308513-16376251
11	CRPPA	NC_000007.14:g.(?_16301411)_(16308637_?)del	deletion	Pathogenic	656841		7:16341036-16348262	7:16301411-16308637
12	CRPPA	NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp)	SNV	Pathogenic	31565	rs387907160	7:16415754-16415754	7:16376129-16376129
13	CRPPA	NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter)	SNV	Pathogenic	31566	rs387907161	7:16341049-16341049	7:16301424-16301424
14	CRPPA	NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro)	SNV	Pathogenic	31567	rs387907162	7:16445856-16445856	7:16406231-16406231
15	CRPPA	NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter)	SNV	Pathogenic	31568	rs368593151	7:16341079-16341079	7:16301454-16301454
16	CRPPA	NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg)	SNV	Pathogenic	39609	rs397515408	7:16415763-16415763	7:16376138-16376138
17	CRPPA	NM_001101426.3(CRPPA):c.535-?_933+?del	deletion	Pathogenic	39610		7:16317753-16415867	7:16278129-16376241
18	CRPPA	NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn)	SNV	Pathogenic	39611	rs397514547	7:16445754-16445754	7:16406129-16406129
19	CRPPA	NM_001101426.4(CRPPA):c.1120-1G>T	SNV	Pathogenic	31561	rs397515396	7:16255823-16255823	7:16216198-16216198
20	CRPPA	NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del	deletion	Pathogenic	31562		7:16401191-16431594	7:16361566-16391969
21	CRPPA	NM_001101426.4(CRPPA):c.789+2T>G	SNV	Pathogenic	31563	rs397515397	7:16348146-16348146	7:16308521-16308521
22	CRPPA	NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter)	SNV	Pathogenic	39613	rs397514548	7:16460692-16460692	7:16421067-16421067
23	CRPPA	NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)	duplication	Pathogenic	279985	rs886041302	7:16460894-16460895	7:16421269-16421270
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_000007.14:g.(?_16258380)_(16259022_?)del	deletion	Likely pathogenic	661726		7:16298005-16298647	7:16258380-16259022
26	CRPPA	NC_000007.14:g.(?_16376072)_(16376261_?)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_000007.14:g.(?_16258370)_(16259032_?)del	deletion	Likely pathogenic	540374		7:16297995-16298657	7:16258370-16259032
29	CRPPA	NM_001101426.4(CRPPA):c.915G>A (p.Val305=)	SNV	Conflicting interpretations of pathogenicity	497232	rs1466053365	7:16317772-16317772	7:16278147-16278147
30	CRPPA	NM_001101426.4(CRPPA):c.876A>G (p.Glu292=)	SNV	Conflicting interpretations of pathogenicity	514247	rs371300262	7:16317811-16317811	7:16278186-16278186
31	CRPPA	NM_001101426.4(CRPPA):c.645A>G (p.Gln215=)	SNV	Conflicting interpretations of pathogenicity	513049	rs532057629	7:16415756-16415756	7:16376131-16376131
32	CRPPA	NM_001101426.4(CRPPA):c.243A>G (p.Leu81=)	SNV	Conflicting interpretations of pathogenicity	596238	rs763209907	7:16460705-16460705	7:16421080-16421080
33	CRPPA	NM_001101426.4(CRPPA):c.1120-10T>C	SNV	Conflicting interpretations of pathogenicity	774187		7:16255832-16255832	7:16216207-16216207
34	CRPPA	NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)	deletion	Conflicting interpretations of pathogenicity	31564	rs397515398	7:16445941-16445943	7:16406316-16406318
35	CRPPA	NM_001101426.4(CRPPA):c.123G>C (p.Gly41=)	SNV	Conflicting interpretations of pathogenicity	288180	rs761842188	7:16460825-16460825	7:16421200-16421200
36	CRPPA	NM_001101426.4(CRPPA):c.360C>T (p.Val120=)	SNV	Conflicting interpretations of pathogenicity	288817	rs183141256	7:16445860-16445860	7:16406235-16406235
37	CRPPA	NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser)	SNV	Conflicting interpretations of pathogenicity	289346	rs373134516	7:16255696-16255696	7:16216071-16216071
38	CRPPA	NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln)	SNV	Conflicting interpretations of pathogenicity	289677	rs773739293	7:16415850-16415850	7:16376225-16376225
39	CRPPA	NM_001101426.4(CRPPA):c.999T>C (p.Asp333=)	SNV	Conflicting interpretations of pathogenicity	281957	rs376909665	7:16298572-16298572	7:16258947-16258947
40	CRPPA	NM_001101426.4(CRPPA):c.531C>T (p.His177=)	SNV	Conflicting interpretations of pathogenicity	282178	rs376195897	7:16445689-16445689	7:16406064-16406064
41	CRPPA	NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)	SNV	Conflicting interpretations of pathogenicity	193158	rs558064127	7:16460869-16460869	7:16421244-16421244
42	CRPPA	NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)	SNV	Conflicting interpretations of pathogenicity	198765	rs181099904	7:16298075-16298075	7:16258450-16258450
43	CRPPA	NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys)	SNV	Conflicting interpretations of pathogenicity	198766	rs185594460	7:16298080-16298080	7:16258455-16258455
44	CRPPA	NM_001101426.4(CRPPA):c.934-5A>G	SNV	Conflicting interpretations of pathogenicity	286202	rs886043337	7:16298642-16298642	7:16259017-16259017
45	CRPPA	NM_001101426.4(CRPPA):c.828T>C (p.Ile276=)	SNV	Conflicting interpretations of pathogenicity	290676	rs201334104	7:16341053-16341053	7:16301428-16301428
46	CRPPA	NM_001101426.4(CRPPA):c.360C>G (p.Val120=)	SNV	Conflicting interpretations of pathogenicity	359591	rs183141256	7:16445860-16445860	7:16406235-16406235
47	CRPPA	NM_001101426.4(CRPPA):c.933+3A>G	SNV	Conflicting interpretations of pathogenicity	387587	rs377582530	7:16317751-16317751	7:16278126-16278126
48	CRPPA	NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg)	SNV	Uncertain significance	373694	rs373890080	7:16317792-16317792	7:16278167-16278167
49	CRPPA	NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val)	SNV	Uncertain significance	291224	rs886044693	7:16298580-16298580	7:16258955-16258955
50	CRPPA	NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr)	SNV	Uncertain significance	359589	rs374054216	7:16415775-16415775	7:16376150-16376150

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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

Pathways related to Congenital Muscular Dystrophy-Dystroglycanopathy A7 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Mannose type O-glycan biosynthesis ³⁶	9.98	FKTN CRPPA

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GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Cellular components related to Congenital Muscular Dystrophy-Dystroglycanopathy A7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	SCF ubiquitin ligase complex	GO:0019005	8.62	SPSB2 SPSB1

Biological processes related to Congenital Muscular Dystrophy-Dystroglycanopathy A7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	proteasome-mediated ubiquitin-dependent protein catabolic process	GO:0043161	9.16	SPSB2 SPSB1
2	protein glycosylation	GO:0006486	8.96	FKTN CRPPA
3	protein O-linked mannosylation	GO:0035269	8.62	FKTN CRPPA

Molecular functions related to Congenital Muscular Dystrophy-Dystroglycanopathy A7 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding, bridging involved in substrate recognition for ubiquitination	GO:1990756	8.62	SPSB2 SPSB1

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Sources for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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