MCID: LTN022
MIFTS: 10

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 54
Myopathy, Myofibrillar, Zasp-Related 13 41
Myofibrillar Myopathy, Zasp-Related 30 6
Zasp-Related Myofibrillar Myopathy 54

Classifications:



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

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98912Disease definitionLate-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.Visit the Orphanet disease page for more resources.

MalaCards based summary : Late-Onset Distal Myopathy, Markesbery-Griggs Type, also known as myopathy, myofibrillar, zasp-related, is related to myopathy, myofibrillar, 4 and muscle disorders. 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 11.8
2 muscle disorders 10.4
3 myofibrillar myopathy 10.4
4 myopathy 10.4

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 30 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 )
2017
2
Mutations in ZASP define a novel form of muscular dystrophy in humans. ( 15668942 )
2005

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 359)
# Gene Variation Type Significance SNP ID Assembly Location
1 LDB3 NM_007078.2(LDB3): c.690-4733G> A single nucleotide variant Conflicting interpretations of pathogenicity rs121908333 GRCh37 Chromosome 10, 88446920: 88446920
2 LDB3 NM_007078.2(LDB3): c.690-4733G> A single nucleotide variant Conflicting interpretations of pathogenicity rs121908333 GRCh38 Chromosome 10, 86687163: 86687163
3 LDB3 NM_001080114.1(LDB3): c.494C> T (p.Ala165Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121908334 GRCh37 Chromosome 10, 88446975: 88446975
4 LDB3 NM_001080114.1(LDB3): c.494C> T (p.Ala165Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121908334 GRCh38 Chromosome 10, 86687218: 86687218
5 LDB3 NM_001080116.1(LDB3): c.802C> T (p.Arg268Cys) single nucleotide variant Uncertain significance rs121908335 GRCh37 Chromosome 10, 88459081: 88459081
6 LDB3 NM_001080116.1(LDB3): c.802C> T (p.Arg268Cys) single nucleotide variant Uncertain significance rs121908335 GRCh38 Chromosome 10, 86699324: 86699324
7 LDB3 NM_001080116.1(LDB3): c.321+1523C> T single nucleotide variant Conflicting interpretations of pathogenicity rs45487699 GRCh37 Chromosome 10, 88441437: 88441437
8 LDB3 NM_001080116.1(LDB3): c.321+1523C> T single nucleotide variant Conflicting interpretations of pathogenicity rs45487699 GRCh38 Chromosome 10, 86681680: 86681680
9 LDB3 NM_001080116.1(LDB3): c.349G> A (p.Asp117Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs121908338 GRCh37 Chromosome 10, 88446830: 88446830
10 LDB3 NM_001080116.1(LDB3): c.349G> A (p.Asp117Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs121908338 GRCh38 Chromosome 10, 86687073: 86687073
11 LDB3 NM_007078.2(LDB3): c.2017G> A (p.Asp673Asn) single nucleotide variant Uncertain significance rs45514002 GRCh37 Chromosome 10, 88485932: 88485932
12 LDB3 NM_007078.2(LDB3): c.2017G> A (p.Asp673Asn) single nucleotide variant Uncertain significance rs45514002 GRCh38 Chromosome 10, 86726175: 86726175
13 LDB3 NM_007078.2(LDB3): c.1041C> A (p.Ser347=) single nucleotide variant Benign rs45555240 GRCh37 Chromosome 10, 88466432: 88466432
14 LDB3 NM_007078.2(LDB3): c.1041C> A (p.Ser347=) single nucleotide variant Benign rs45555240 GRCh38 Chromosome 10, 86706675: 86706675
15 LDB3 NM_007078.2(LDB3): c.1074C> T (p.Ala358=) single nucleotide variant Benign rs45459491 GRCh37 Chromosome 10, 88466465: 88466465
16 LDB3 NM_007078.2(LDB3): c.1074C> T (p.Ala358=) single nucleotide variant Benign rs45459491 GRCh38 Chromosome 10, 86706708: 86706708
17 LDB3 NM_007078.2(LDB3): c.1422G> A (p.Ser474=) single nucleotide variant Benign/Likely benign rs142625982 GRCh37 Chromosome 10, 88476274: 88476274
18 LDB3 NM_007078.2(LDB3): c.1422G> A (p.Ser474=) single nucleotide variant Benign/Likely benign rs142625982 GRCh38 Chromosome 10, 86716517: 86716517
19 LDB3 NM_007078.2(LDB3): c.1903G> A (p.Val635Ile) single nucleotide variant Benign rs45618633 GRCh37 Chromosome 10, 88478529: 88478529
20 LDB3 NM_007078.2(LDB3): c.1903G> A (p.Val635Ile) single nucleotide variant Benign rs45618633 GRCh38 Chromosome 10, 86718772: 86718772
21 LDB3 NM_007078.2(LDB3): c.2092G> A (p.Ala698Thr) single nucleotide variant Uncertain significance rs45577134 GRCh37 Chromosome 10, 88486007: 88486007
22 LDB3 NM_007078.2(LDB3): c.2092G> A (p.Ala698Thr) single nucleotide variant Uncertain significance rs45577134 GRCh38 Chromosome 10, 86726250: 86726250
23 LDB3 NM_001080116.1(LDB3): c.302C> T (p.Pro101Leu) single nucleotide variant Benign/Likely benign rs45592139 GRCh37 Chromosome 10, 88439895: 88439895
24 LDB3 NM_001080116.1(LDB3): c.302C> T (p.Pro101Leu) single nucleotide variant Benign/Likely benign rs45592139 GRCh38 Chromosome 10, 86680138: 86680138
25 LDB3 NM_007078.2(LDB3): c.690-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs45529531 GRCh37 Chromosome 10, 88451649: 88451649
26 LDB3 NM_007078.2(LDB3): c.690-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs45529531 GRCh38 Chromosome 10, 86691892: 86691892
27 LDB3 NM_001080116.1(LDB3): c.611A> G (p.Lys204Arg) single nucleotide variant Benign/Likely benign rs34423165 GRCh37 Chromosome 10, 88451715: 88451715
28 LDB3 NM_001080116.1(LDB3): c.611A> G (p.Lys204Arg) single nucleotide variant Benign/Likely benign rs34423165 GRCh38 Chromosome 10, 86691958: 86691958
29 LDB3 NM_007078.2(LDB3): c.1051A> G (p.Thr351Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138251566 GRCh37 Chromosome 10, 88466442: 88466442
30 LDB3 NM_007078.2(LDB3): c.1051A> G (p.Thr351Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138251566 GRCh38 Chromosome 10, 86706685: 86706685
31 LDB3 NM_001080116.1(LDB3): c.440C> T (p.Ala147Val) single nucleotide variant Uncertain significance rs281865143 GRCh37 Chromosome 10, 88446921: 88446921
32 LDB3 NM_001080116.1(LDB3): c.440C> T (p.Ala147Val) single nucleotide variant Uncertain significance rs281865143 GRCh38 Chromosome 10, 86687164: 86687164
33 LDB3 NM_001080114.1(LDB3): c.345-15G> A single nucleotide variant Benign/Likely benign rs113445294 GRCh37 Chromosome 10, 88446811: 88446811
34 LDB3 NM_001080114.1(LDB3): c.345-15G> A single nucleotide variant Benign/Likely benign rs113445294 GRCh38 Chromosome 10, 86687054: 86687054
35 LDB3 NM_001080116.1(LDB3): c.456G> T (p.Ala152=) single nucleotide variant Conflicting interpretations of pathogenicity rs371708921 GRCh37 Chromosome 10, 88446937: 88446937
36 LDB3 NM_001080116.1(LDB3): c.456G> T (p.Ala152=) single nucleotide variant Conflicting interpretations of pathogenicity rs371708921 GRCh38 Chromosome 10, 86687180: 86687180
37 LDB3 NM_001080114.1(LDB3): c.504T> C (p.Asp168=) single nucleotide variant Benign/Likely benign rs76615432 GRCh37 Chromosome 10, 88446985: 88446985
38 LDB3 NM_001080114.1(LDB3): c.504T> C (p.Asp168=) single nucleotide variant Benign/Likely benign rs76615432 GRCh38 Chromosome 10, 86687228: 86687228
39 LDB3 NM_001080114.1(LDB3): c.546T> C (p.Ser182=) single nucleotide variant Conflicting interpretations of pathogenicity rs71473272 GRCh37 Chromosome 10, 88447027: 88447027
40 LDB3 NM_001080114.1(LDB3): c.546T> C (p.Ser182=) single nucleotide variant Conflicting interpretations of pathogenicity rs71473272 GRCh38 Chromosome 10, 86687270: 86687270
41 LDB3 NM_007078.2(LDB3): c.896+6722G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144445130 GRCh37 Chromosome 10, 88459050: 88459050
42 LDB3 NM_007078.2(LDB3): c.896+6722G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144445130 GRCh38 Chromosome 10, 86699293: 86699293
43 LDB3 NM_007078.2(LDB3): c.1014A> G (p.Thr338=) single nucleotide variant Benign/Likely benign rs150209221 GRCh37 Chromosome 10, 88466405: 88466405
44 LDB3 NM_007078.2(LDB3): c.1014A> G (p.Thr338=) single nucleotide variant Benign/Likely benign rs150209221 GRCh38 Chromosome 10, 86706648: 86706648
45 LDB3 NM_001080114.1(LDB3): c.781G> A (p.Ala261Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs45539535 GRCh37 Chromosome 10, 88469687: 88469687
46 LDB3 NM_001080114.1(LDB3): c.781G> A (p.Ala261Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs45539535 GRCh38 Chromosome 10, 86709930: 86709930
47 LDB3 NM_001080116.1(LDB3): c.*16984G> A single nucleotide variant Benign rs139834701 GRCh37 Chromosome 10, 88476115: 88476115
48 LDB3 NM_001080116.1(LDB3): c.*16984G> A single nucleotide variant Benign rs139834701 GRCh38 Chromosome 10, 86716358: 86716358
49 LDB3 NM_007078.2(LDB3): c.1320_1343del24 (p.Ala442_Pro449del) deletion Conflicting interpretations of pathogenicity rs397517209 GRCh37 Chromosome 10, 88476172: 88476195
50 LDB3 NM_007078.2(LDB3): c.1320_1343del24 (p.Ala442_Pro449del) deletion Conflicting interpretations of pathogenicity rs397517209 GRCh38 Chromosome 10, 86716415: 86716438

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....