MDDGA7
MCID: MSC101
MIFTS: 30

Muscular Dystrophy-Dystroglycanopathy , Type a, 7 (MDDGA7)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 7 56 73 13 71
Mddga7 56 73
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A7 73
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Ispd-Related 56
Muscle-Eye-Brain Disease Ispd-Related 73
Walker-Warburg Syndrome Ispd-Related 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset prenatally or at birth
severe phenotype
most patients die in first years of life


HPO:

31
muscular dystrophy-dystroglycanopathy , type a, 7:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

OMIM : 56 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (614643)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 7, also known as mddga7, is related to congenital muscular dystrophy-dystroglycanopathy a7. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 7 is CRPPA (CDP-L-Ribitol Pyrophosphorylase A). Affiliated tissues include eye, brain and skeletal muscle, and related phenotypes are cataract and macrocephaly

UniProtKB/Swiss-Prot : 73 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 congenital muscular dystrophy-dystroglycanopathy a7 11.3

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

31 (showing 33, show less)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 macrocephaly 31 HP:0000256
3 microtia 31 HP:0008551
4 hydrocephalus 31 HP:0000238
5 elevated serum creatine kinase 31 HP:0003236
6 frontal bossing 31 HP:0002007
7 retrognathia 31 HP:0000278
8 low-set ears 31 HP:0000369
9 glaucoma 31 HP:0000501
10 retinal detachment 31 HP:0000541
11 microphthalmia 31 HP:0000568
12 dandy-walker malformation 31 HP:0001305
13 deeply set eye 31 HP:0000490
14 areflexia 31 HP:0001284
15 adducted thumb 31 HP:0001181
16 decreased fetal movement 31 HP:0001558
17 remnants of the hyaloid vascular system 31 HP:0007968
18 polymicrogyria 31 HP:0002126
19 cerebellar hypoplasia 31 HP:0001321
20 pachygyria 31 HP:0001302
21 partial agenesis of the corpus callosum 31 HP:0001338
22 encephalocele 31 HP:0002084
23 hypoplasia of the corpus callosum 31 HP:0002079
24 muscular dystrophy 31 HP:0003560
25 intellectual disability, profound 31 HP:0002187
26 generalized hypotonia 31 HP:0001290
27 peters anomaly 31 HP:0000659
28 optic nerve hypoplasia 31 HP:0000609
29 retinal dysplasia 31 HP:0007973
30 type ii lissencephaly 31 HP:0007260
31 hypoplasia of the brainstem 31 HP:0002365
32 agyria 31 HP:0031882
33 subcortical heterotopia 31 HP:0032391

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
frontal bossing

Head And Neck Face:
retrognathia

Head And Neck Eyes:
glaucoma
retinal detachment
microphthalmia
peters anomaly
optic nerve hypoplasia
more
Muscle Soft Tissue:
muscular dystrophy
hypotonia
disruption in the basal lamina seen on skeletal muscle biopsy
defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy

Laboratory Abnormalities:
increased serum creatine kinase

Abdomen:
visceral malformations (in some patients)

Neurologic Central Nervous System:
hydrocephalus
dandy-walker malformation
ventriculomegaly
polymicrogyria
cerebellar hypoplasia
more
Head And Neck Ears:
low-set ears
small ears

Neurologic Peripheral Nervous System:
areflexia

Skeletal Hands:
adducted thumbs

Prenatal Manifestations Movement:
decreased fetal movements

Skeletal Limbs:
limb deformations (in some patients)

Clinical features from OMIM:

614643

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

40
Eye, Brain, Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

(showing 7, show less)
# Title Authors PMID Year
1
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 56 6
23217329 2012
2
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 6 56
22522420 2012
3
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. 56 6
22522421 2012
4
Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. 56 6
10738921 2000
5
Walker-Warburg syndrome: neurologic features and muscle membrane structure. 6 56
9492098 1998
6
Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. 6 56
7604843 1995
7
Congenital Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301468 2001

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

6 (showing 103, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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
51 CRPPA NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro)SNV Uncertain significance 287450 rs886043637 7:16460748-16460748 7:16421123-16421123
52 CRPPA NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile)SNV Uncertain significance 285066 rs199691459 7:16445900-16445900 7:16406275-16406275
53 CRPPA NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg)SNV Uncertain significance 282161 rs202108204 7:16445688-16445688 7:16406063-16406063
54 CRPPA NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe)SNV Uncertain significance 289678 rs200334999 7:16341073-16341073 7:16301448-16301448
55 CRPPA NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly)SNV Uncertain significance 290098 rs547473863 7:16317806-16317806 7:16278181-16278181
56 CRPPA NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly)SNV Uncertain significance 288847 rs370397489 7:16317773-16317773 7:16278148-16278148
57 CRPPA NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile)SNV Uncertain significance 39612 rs397515409 7:16348224-16348224 7:16308599-16308599
58 CRPPA NM_001101426.4(CRPPA):c.1350A>G (p.Ile450Met)SNV Uncertain significance 853106 7:16131326-16131326 7:16091701-16091701
59 CRPPA NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly)SNV Uncertain significance 849536 7:16415727-16415727 7:16376102-16376102
60 CRPPA NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser)SNV Uncertain significance 858499 7:16415755-16415755 7:16376130-16376130
61 CRPPA NM_001101426.4(CRPPA):c.565A>T (p.Thr189Ser)SNV Uncertain significance 850699 7:16415836-16415836 7:16376211-16376211
62 CRPPA NM_001101426.4(CRPPA):c.550C>G (p.Arg184Gly)SNV Uncertain significance 837598 7:16415851-16415851 7:16376226-16376226
63 CRPPA NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile)SNV Uncertain significance 844458 7:16445905-16445905 7:16406280-16406280
64 CRPPA NM_001101426.4(CRPPA):c.262T>C (p.Cys88Arg)SNV Uncertain significance 849325 7:16445958-16445958 7:16406333-16406333
65 CRPPA NM_001101426.4(CRPPA):c.124C>T (p.Arg42Cys)SNV Uncertain significance 840458 7:16460824-16460824 7:16421199-16421199
66 CRPPA NM_001101426.4(CRPPA):c.58G>A (p.Gly20Ser)SNV Uncertain significance 844470 7:16460890-16460890 7:16421265-16421265
67 CRPPA NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg)indel Uncertain significance 664701 7:16317812-16317813 7:16278187-16278188
68 CRPPA NC_000007.14:g.(?_16091685)_(16091809_?)deldeletion Uncertain significance 662846 7:16131310-16131434 7:16091685-16091809
69 CRPPA NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val)SNV Uncertain significance 447580 rs762370550 7:16445943-16445943 7:16406318-16406318
70 CRPPA NM_001101426.4(CRPPA):c.836-5T>GSNV Uncertain significance 640873 7:16317856-16317856 7:16278231-16278231
71 CRPPA NM_001101426.4(CRPPA):c.933+5G>CSNV Uncertain significance 520427 rs1554305652 7:16317749-16317749 7:16278124-16278124
72 CRPPA NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp)SNV Uncertain significance 497567 rs1008210645 7:16415765-16415765 7:16376140-16376140
73 CRPPA NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr)SNV Uncertain significance 497569 rs1292380177 7:16460727-16460727 7:16421102-16421102
74 CRPPA NC_000007.14:g.(?_16216046)_(16216217_?)deldeletion Uncertain significance 540375 7:16255671-16255842 7:16216046-16216217
75 CRPPA NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys)SNV Uncertain significance 540370 rs202126749 7:16298586-16298586 7:16258961-16258961
76 CRPPA NM_001101426.4(CRPPA):c.816G>A (p.Ala272=)SNV Uncertain significance 473158 rs754348253 7:16341065-16341065 7:16301440-16301440
77 CRPPA NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu)SNV Uncertain significance 473157 rs369193825 7:16348161-16348161 7:16308536-16308536
78 CRPPA NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln)SNV Uncertain significance 473155 rs1356080750 7:16445864-16445864 7:16406239-16406239
79 CRPPA NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser)SNV Uncertain significance 473153 rs369832637 7:16298561-16298561 7:16258936-16258936
80 CRPPA NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu)SNV Uncertain significance 473156 rs770257307 7:16348244-16348244 7:16308619-16308619
81 CRPPA NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp)SNV Uncertain significance 572350 rs1036959263 7:16460788-16460788 7:16421163-16421163
82 CRPPA NM_001101426.4(CRPPA):c.614G>A (p.Arg205His)SNV Uncertain significance 582562 rs566179705 7:16415787-16415787 7:16376162-16376162
83 CRPPA NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser)SNV Uncertain significance 540372 rs1037010291 7:16460935-16460935 7:16421310-16421310
84 CRPPA NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu)SNV Uncertain significance 540371 rs750477422 7:16317840-16317840 7:16278215-16278215
85 CRPPA NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met)SNV Uncertain significance 574208 rs373422736 7:16298581-16298581 7:16258956-16258956
86 CRPPA NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr)SNV Uncertain significance 579387 rs886042489 7:16460755-16460755 7:16421130-16421130
87 CRPPA NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr)SNV Uncertain significance 594085 rs762217429 7:16255750-16255750 7:16216125-16216125
88 CRPPA NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys)SNV Uncertain significance 653779 7:16415758-16415758 7:16376133-16376133
89 CRPPA NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr)SNV Uncertain significance 666121 7:16415761-16415761 7:16376136-16376136
90 CRPPA NC_000007.14:g.(?_16216056)_(16216207_?)deldeletion Uncertain significance 662864 7:16255681-16255832 7:16216056-16216207
91 CRPPA NM_001101426.4(CRPPA):c.1017T>C (p.Val339=)SNV Likely benign 473154 rs773884120 7:16298554-16298554 7:16258929-16258929
92 CRPPA NM_001101426.4(CRPPA):c.945C>T (p.Val315=)SNV Likely benign 473160 rs1554300356 7:16298626-16298626 7:16259001-16259001
93 CRPPA NM_001101426.4(CRPPA):c.408A>G (p.Ala136=)SNV Likely benign 540373 rs541412708 7:16445812-16445812 7:16406187-16406187
94 CRPPA NM_001101426.4(CRPPA):c.171G>A (p.Gly57=)SNV Likely benign 718824 7:16460777-16460777 7:16421152-16421152
95 CRPPA NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser)SNV Benign/Likely benign 129285 rs141625803 7:16255722-16255722 7:16216097-16216097
96 CRPPA NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg)SNV Benign/Likely benign 129286 rs192925278 7:16460916-16460916 7:16421291-16421291
97 CRPPA NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys)SNV Benign/Likely benign 257463 rs187484645 7:16460881-16460881 7:16421256-16421256
98 CRPPA NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys)SNV Benign/Likely benign 359592 rs61744487 7:16445874-16445874 7:16406249-16406249
99 CRPPA NM_001101426.4(CRPPA):c.534+13T>ASNV Benign 226675 rs6461252 7:16445673-16445673 7:16406048-16406048
100 CRPPA NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys)SNV Benign 198454 rs114363936 7:16298624-16298624 7:16258999-16258999
101 CRPPA NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val)SNV Benign 129287 rs61734789 7:16445813-16445813 7:16406188-16406188
102 CRPPA NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg)SNV Benign 129288 rs7782939 7:16460893-16460893 7:16421268-16421268
103 CRPPA NM_001101426.4(CRPPA):c.726A>G (p.Gln242=)SNV Benign 129289 rs61746966 7:16348211-16348211 7:16308586-16308586

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

73 (showing 8, show less)
# Symbol AA change Variation ID SNP ID
1 CRPPA p.Ala122Pro VAR_068101 rs387907162
2 CRPPA p.Arg126His VAR_068102 rs752817129
3 CRPPA p.Ala216Asp VAR_068103 rs387907160
4 CRPPA p.Asp156Asn VAR_069741 rs397514547
5 CRPPA p.Met213Arg VAR_069742 rs397515408
6 CRPPA p.Tyr226His VAR_069743 rs128278871
7 CRPPA p.Thr238Ile VAR_069744 rs397515409
8 CRPPA p.Arg205His VAR_078949 rs566179705

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 7.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....