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

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:



External Ids:

Disease Ontology 12 DOID:0111234

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.

Related Diseases for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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 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:



Diseases related to Congenital Muscular Dystrophy-Dystroglycanopathy A7

Symptoms & Phenotypes for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Drugs & Therapeutics for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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

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

Anatomical Context for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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

40
Eye, Brain

Publications for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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_?)deldeletion Pathogenic 473151 7:16341026-16348272
2 CRPPA NC_000007.14:g.(?_16406061)_(16406337_?)deldeletion 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_?)deldeletion Pathogenic 583718 7:16131300-16255842 7:16091675-16216217
7 CRPPA NC_000007.14:g.(?_16308523)_(16689906_?)deldeletion Pathogenic 583954 7:16348148-16729531 7:16308523-16689906
8 CRPPA NC_000007.14:g.(?_16216046)_(16376261_?)deldeletion 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_?)deldeletion Pathogenic 663410 7:16348138-16415876 7:16308513-16376251
11 CRPPA NC_000007.14:g.(?_16301411)_(16308637_?)deldeletion 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+?deldeletion 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>TSNV Pathogenic 31561 rs397515396 7:16255823-16255823 7:16216198-16216198
20 CRPPA NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526deldeletion Pathogenic 31562 7:16401191-16431594 7:16361566-16391969
21 CRPPA NM_001101426.4(CRPPA):c.789+2T>GSNV 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>CSNV Pathogenic/Likely pathogenic 287941 rs767978961 7:16445963-16445963 7:16406338-16406338
25 CRPPA NC_000007.14:g.(?_16258380)_(16259022_?)deldeletion Likely pathogenic 661726 7:16298005-16298647 7:16258380-16259022
26 CRPPA NC_000007.14:g.(?_16376072)_(16376261_?)deldeletion Likely pathogenic 583821 7:16415697-16415886 7:16376072-16376261
27 CRPPA NM_001101426.4(CRPPA):c.835+2T>CSNV Likely pathogenic 582317 rs773325665 7:16341044-16341044 7:16301419-16301419
28 CRPPA NC_000007.14:g.(?_16258370)_(16259032_?)deldeletion 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>CSNV 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>GSNV 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>GSNV 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

Expression for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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

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 9.98 FKTN CRPPA

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

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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9 Cosmic
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