MCID: LTN022
MIFTS: 7

Late-Onset Distal Myopathy, Markesbery-Griggs Type

Categories: Rare diseases

Aliases & Classifications for Late-Onset Distal Myopathy, Markesbery-Griggs Type

MalaCards integrated aliases for Late-Onset Distal Myopathy, Markesbery-Griggs Type:

Name: Late-Onset Distal Myopathy, Markesbery-Griggs Type 53
Myopathy, Myofibrillar, Zasp-Related 13 40
Myofibrillar Myopathy, Zasp-Related 29 6
Zasp-Related Myofibrillar Myopathy 53

Classifications:



Summaries for Late-Onset Distal Myopathy, Markesbery-Griggs Type

MalaCards based summary : Late-Onset Distal Myopathy, Markesbery-Griggs Type, also known as myopathy, myofibrillar, zasp-related, is related to myopathy, myofibrillar, 4. An important gene associated with Late-Onset Distal Myopathy, Markesbery-Griggs Type is LDB3 (LIM Domain Binding 3).

Related Diseases for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Diseases related to Late-Onset Distal Myopathy, Markesbery-Griggs Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 4 11.6

Symptoms & Phenotypes for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Drugs & Therapeutics for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Search Clinical Trials , NIH Clinical Center for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Genetic Tests for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Genetic tests related to Late-Onset Distal Myopathy, Markesbery-Griggs Type:

# Genetic test Affiliating Genes
1 Myofibrillar Myopathy, Zasp-Related 29 LDB3

Anatomical Context for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Publications for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Articles related to Late-Onset Distal Myopathy, Markesbery-Griggs Type:

# Title Authors Year
1
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. ( 27546599 )
2016

Variations for Late-Onset Distal Myopathy, Markesbery-Griggs Type

ClinVar genetic disease variations for Late-Onset Distal Myopathy, Markesbery-Griggs Type:

6
(show top 50) (show all 219)
# Gene Variation Type Significance SNP ID Assembly Location
1 LDB3 NM_007078.2(LDB3): c.690-4733G> A single nucleotide variant Pathogenic rs121908333 GRCh37 Chromosome 10, 88446920: 88446920
2 LDB3 NM_007078.2(LDB3): c.690-4733G> A single nucleotide variant Pathogenic rs121908333 GRCh38 Chromosome 10, 86687163: 86687163
3 LDB3 NM_001080114.1(LDB3): c.494C> T (p.Ala165Val) single nucleotide variant Pathogenic rs121908334 GRCh37 Chromosome 10, 88446975: 88446975
4 LDB3 NM_001080114.1(LDB3): c.494C> T (p.Ala165Val) single nucleotide variant Pathogenic rs121908334 GRCh38 Chromosome 10, 86687218: 86687218
5 LDB3 NM_001080116.1(LDB3): c.440C> T (p.Ala147Val) single nucleotide variant Pathogenic rs281865143 GRCh37 Chromosome 10, 88446921: 88446921
6 LDB3 NM_001080116.1(LDB3): c.440C> T (p.Ala147Val) single nucleotide variant Pathogenic rs281865143 GRCh38 Chromosome 10, 86687164: 86687164
7 LDB3 NM_007078.2(LDB3): c.656G> A (p.Arg219Gln) single nucleotide variant Uncertain significance rs530979771 GRCh37 Chromosome 10, 88441527: 88441527
8 LDB3 NM_007078.2(LDB3): c.656G> A (p.Arg219Gln) single nucleotide variant Uncertain significance rs530979771 GRCh38 Chromosome 10, 86681770: 86681770
9 LDB3 NM_001080116.1(LDB3): c.456G> A (p.Ala152=) single nucleotide variant Conflicting interpretations of pathogenicity rs371708921 GRCh37 Chromosome 10, 88446937: 88446937
10 LDB3 NM_001080116.1(LDB3): c.456G> A (p.Ala152=) single nucleotide variant Conflicting interpretations of pathogenicity rs371708921 GRCh38 Chromosome 10, 86687180: 86687180
11 LDB3 NM_007078.2(LDB3): c.714C> T (p.Ala238=) single nucleotide variant Likely benign rs727503125 GRCh37 Chromosome 10, 88451677: 88451677
12 LDB3 NM_007078.2(LDB3): c.714C> T (p.Ala238=) single nucleotide variant Likely benign rs727503125 GRCh38 Chromosome 10, 86691920: 86691920
13 LDB3 NM_007078.2(LDB3): c.897-10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs77304928 GRCh37 Chromosome 10, 88466278: 88466278
14 LDB3 NM_007078.2(LDB3): c.897-10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs77304928 GRCh38 Chromosome 10, 86706521: 86706521
15 LDB3 NM_007078.2(LDB3): c.1774G> C (p.Glu592Gln) single nucleotide variant Uncertain significance rs727504944 GRCh37 Chromosome 10, 88477818: 88477818
16 LDB3 NM_007078.2(LDB3): c.1774G> C (p.Glu592Gln) single nucleotide variant Uncertain significance rs727504944 GRCh38 Chromosome 10, 86718061: 86718061
17 LDB3 NM_007078.2(LDB3): c.1956C> T (p.Asp652=) single nucleotide variant Benign/Likely benign rs139213290 GRCh37 Chromosome 10, 88478582: 88478582
18 LDB3 NM_007078.2(LDB3): c.1956C> T (p.Asp652=) single nucleotide variant Benign/Likely benign rs139213290 GRCh38 Chromosome 10, 86718825: 86718825
19 LDB3 NM_007078.2(LDB3): c.529dupG (p.Ala177Glyfs) duplication Uncertain significance rs730880345 GRCh37 Chromosome 10, 88441400: 88441400
20 LDB3 NM_007078.2(LDB3): c.529dupG (p.Ala177Glyfs) duplication Uncertain significance rs730880345 GRCh38 Chromosome 10, 86681643: 86681643
21 LDB3 NM_007078.2(LDB3): c.689+9C> T single nucleotide variant Likely benign rs727503124 GRCh37 Chromosome 10, 88441569: 88441569
22 LDB3 NM_007078.2(LDB3): c.689+9C> T single nucleotide variant Likely benign rs727503124 GRCh38 Chromosome 10, 86681812: 86681812
23 LDB3 NM_007078.2(LDB3): c.690-4661G> A single nucleotide variant Conflicting interpretations of pathogenicity rs373632943 GRCh37 Chromosome 10, 88446992: 88446992
24 LDB3 NM_007078.2(LDB3): c.690-4661G> A single nucleotide variant Conflicting interpretations of pathogenicity rs373632943 GRCh38 Chromosome 10, 86687235: 86687235
25 LDB3 NM_001171610.1(LDB3): c.466G> A (p.Ala156Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200596619 GRCh37 Chromosome 10, 88441337: 88441337
26 LDB3 NM_001171610.1(LDB3): c.466G> A (p.Ala156Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200596619 GRCh38 Chromosome 10, 86681580: 86681580
27 LDB3 NM_007078.2(LDB3): c.91C> T (p.Arg31Trp) single nucleotide variant Uncertain significance rs367792378 GRCh37 Chromosome 10, 88428539: 88428539
28 LDB3 NM_007078.2(LDB3): c.91C> T (p.Arg31Trp) single nucleotide variant Uncertain significance rs367792378 GRCh38 Chromosome 10, 86668782: 86668782
29 LDB3 NM_007078.2(LDB3): c.287T> C (p.Val96Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs794729056 GRCh37 Chromosome 10, 88439880: 88439880
30 LDB3 NM_007078.2(LDB3): c.287T> C (p.Val96Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs794729056 GRCh38 Chromosome 10, 86680123: 86680123
31 LDB3 NM_007078.2(LDB3): c.690-4802C> A single nucleotide variant Uncertain significance rs755513516 GRCh37 Chromosome 10, 88446851: 88446851
32 LDB3 NM_007078.2(LDB3): c.690-4802C> A single nucleotide variant Uncertain significance rs755513516 GRCh38 Chromosome 10, 86687094: 86687094
33 LDB3 NM_007078.2(LDB3): c.1075G> A (p.Asp359Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs557956141 GRCh38 Chromosome 10, 86706709: 86706709
34 LDB3 NM_007078.2(LDB3): c.1075G> A (p.Asp359Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs557956141 GRCh37 Chromosome 10, 88466466: 88466466
35 LDB3 NM_007078.2(LDB3): c.1487T> C (p.Phe496Ser) single nucleotide variant Uncertain significance rs147072071 GRCh38 Chromosome 10, 86716582: 86716582
36 LDB3 NM_007078.2(LDB3): c.1487T> C (p.Phe496Ser) single nucleotide variant Uncertain significance rs147072071 GRCh37 Chromosome 10, 88476339: 88476339
37 LDB3 NM_007078.2(LDB3): c.1594G> C (p.Ala532Pro) single nucleotide variant Uncertain significance rs143764931 GRCh38 Chromosome 10, 86716689: 86716689
38 LDB3 NM_007078.2(LDB3): c.1594G> C (p.Ala532Pro) single nucleotide variant Uncertain significance rs143764931 GRCh37 Chromosome 10, 88476446: 88476446
39 LDB3 NM_001080116.1(LDB3): c.290A> G (p.Gln97Arg) single nucleotide variant Uncertain significance rs762580653 GRCh37 Chromosome 10, 88439883: 88439883
40 LDB3 NM_001080116.1(LDB3): c.290A> G (p.Gln97Arg) single nucleotide variant Uncertain significance rs762580653 GRCh38 Chromosome 10, 86680126: 86680126
41 LDB3 NM_007078.2(LDB3): c.1049C> T (p.Thr350Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200796750 GRCh37 Chromosome 10, 88466440: 88466440
42 LDB3 NM_007078.2(LDB3): c.1049C> T (p.Thr350Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200796750 GRCh38 Chromosome 10, 86706683: 86706683
43 LDB3 NM_001171610.1(LDB3): c.668C> T (p.Ser223Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs375306400 GRCh38 Chromosome 10, 86681782: 86681782
44 LDB3 NM_001171610.1(LDB3): c.668C> T (p.Ser223Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs375306400 GRCh37 Chromosome 10, 88441539: 88441539
45 LDB3 NM_001080116.1(LDB3): c.322-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs754704023 GRCh37 Chromosome 10, 88445421: 88445421
46 LDB3 NM_001080116.1(LDB3): c.322-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs754704023 GRCh38 Chromosome 10, 86685664: 86685664
47 LDB3 NM_007078.2(LDB3): c.1167C> T (p.Ala389=) single nucleotide variant Benign/Likely benign rs768844187 GRCh37 Chromosome 10, 88469743: 88469743
48 LDB3 NM_007078.2(LDB3): c.1167C> T (p.Ala389=) single nucleotide variant Benign/Likely benign rs768844187 GRCh38 Chromosome 10, 86709986: 86709986
49 LDB3 NM_001080116.1(LDB3): c.*18610T> G single nucleotide variant Conflicting interpretations of pathogenicity rs566463138 GRCh37 Chromosome 10, 88477741: 88477741
50 LDB3 NM_001080116.1(LDB3): c.*18610T> G single nucleotide variant Conflicting interpretations of pathogenicity rs566463138 GRCh38 Chromosome 10, 86717984: 86717984

Expression for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Search GEO for disease gene expression data for Late-Onset Distal Myopathy, Markesbery-Griggs Type.

Pathways for Late-Onset Distal Myopathy, Markesbery-Griggs Type

GO Terms for Late-Onset Distal Myopathy, Markesbery-Griggs Type

Sources for Late-Onset Distal Myopathy, Markesbery-Griggs Type

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