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

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:



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. An important gene associated with Congenital Muscular Dystrophy-Dystroglycanopathy A7 is CRPPA (CDP-L-Ribitol Pyrophosphorylase A). 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:

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

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:

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# 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+?deldeletion 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>TSNV Pathogenic 31561 rs397515396 7:16255823-16255823 7:16216198-16216198
9 CRPPA NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526deldeletion Pathogenic 31562 7:16401191-16431594 7:16361566-16391969
10 CRPPA NM_001101426.4(CRPPA):c.789+2T>GSNV 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_?)deldeletion 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_?)deldeletion Pathogenic 583718 7:16131300-16255842 7:16091675-16216217
19 CRPPA NC_000007.13:g.(?_16348148)_(16729531_?)deldeletion Pathogenic 583954 7:16348148-16729531 7:16308523-16689906
20 CRPPA NC_000007.13:g.(?_16255671)_(16415886_?)deldeletion 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_?)deldeletion Pathogenic 663410 7:16348138-16415876 7:16308513-16376251
23 CRPPA NC_000007.13:g.(?_16341036)_(16348262_?)deldeletion Pathogenic 656841 7:16341036-16348262 7:16301411-16308637
24 CRPPA NM_001101426.4(CRPPA):c.258-1G>CSNV Pathogenic/Likely pathogenic 287941 rs767978961 7:16445963-16445963 7:16406338-16406338
25 CRPPA NC_000007.13:g.(?_16298005)_(16298647_?)deldeletion Likely pathogenic 661726 7:16298005-16298647 7:16258380-16259022
26 CRPPA NC_000007.13:g.(?_16415697)_(16415886_?)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_000007.13:g.(?_16297995)_(16298657_?)deldeletion Likely pathogenic 540374 7:16297995-16298657 7:16258370-16259032
29 CRPPA NM_001101426.4(CRPPA):c.933+3A>GSNV 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_?)deldeletion 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

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

GO Terms for Congenital Muscular Dystrophy-Dystroglycanopathy A7

Sources for Congenital Muscular Dystrophy-Dystroglycanopathy A7

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