MCID: LTN022
MIFTS: 30

Late-Onset Distal Myopathy, Markesbery-Griggs Type

Categories: Neuronal diseases, Rare diseases
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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 19 58
Zasp-Related Myofibrillar Myopathy 19 58
Myofibrillar Myopathy, Zasp-Related 5

Characteristics:


Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Adult 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 32 G71.8
UMLS via Orphanet 72 C1836155
Orphanet 58 ORPHA98912

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

GARD: 19 A rare genetic non-dystrophic myofibrillar myopathy disorder with characteristics of 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 of the proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. Caused by heterozygous mutation in the ZASP gene on chromosome 10.

MalaCards based summary: Late-Onset Distal Myopathy, Markesbery-Griggs Type, also known as zasp-related myofibrillar myopathy, is related to myofibrillar myopathy and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Late-Onset Distal Myopathy, Markesbery-Griggs Type is LDB3 (LIM Domain Binding 3). Affiliated tissues include heart and skeletal muscle, and related phenotypes are progressive proximal muscle weakness and intrinsic hand muscle atrophy

Orphanet: 58 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.

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 myofibrillar myopathy 29.7 LOC110121486 LDB3
2 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
3 miyoshi muscular dystrophy 10.2
4 myopathy 10.2
5 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 9.7 LOC110121486 LDB3
6 myopathy, myofibrillar, 4 9.6 LOC110121486 LDB3
7 neuromuscular disease 9.5 LOC110121486 LDB3

Graphical network of the top 20 diseases related to Late-Onset Distal Myopathy, Markesbery-Griggs Type:



Diseases related to Late-Onset Distal Myopathy, Markesbery-Griggs Type

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

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

58 30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive proximal muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0009073
2 intrinsic hand muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008954
3 fatigable weakness of distal limb muscles 58 30 Frequent (33%) Frequent (79-30%)
HP:0030198
4 wrist drop 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031189
5 weakness of long finger extensor muscles 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009077
6 leg muscle stiffness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008969
7 ankle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031374
8 weakness of the intrinsic hand muscles 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009005
9 gait disturbance 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001288
10 proximal muscle weakness in upper limbs 58 30 Very rare (1%) Very rare (<4-1%)
HP:0008997
11 peripheral neuropathy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0009830
12 limb-girdle muscle weakness 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003325
13 foot dorsiflexor weakness 58 30 Very rare (1%) Very rare (<4-1%)
HP:0009027
14 cardiomyopathy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001638
15 heart block 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012722
16 generalized muscle weakness 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003324
17 decreased achilles reflex 58 30 Very rare (1%) Very rare (<4-1%)
HP:0009072
18 decreased patellar reflex 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011808
19 abnormal left ventricular function 30 Very rare (1%) HP:0005162
20 abnormality of the cardiovascular system 58 Occasional (29-5%)
21 loss of ability to walk 58 Excluded (0%)
22 progressive inability to walk 58 Excluded (0%)
23 left ventricular dysfunction 58 Very rare (<4-1%)

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

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

Organs/tissues related to Late-Onset Distal Myopathy, Markesbery-Griggs Type:

MalaCards : Heart, Skeletal Muscle

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

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

(show all 12)
# Title Authors PMID Year
1
Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCĪ± and TSC2-mTOR downregulation. 5
33742095 2021
2
Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders. 5
32721234 2020
3
Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin. 5
28349680 2017
4
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. 5
25208129 2014
5
Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. 5
24668811 2014
6
ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle. 5
24647531 2014
7
[Myofibrillary myopathy due to the ZASP mutation Ala147Thr : two cases with exclusively distal leg involvement]. 5
23263837 2013
8
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. 5
21676617 2011
9
Distinct muscle imaging patterns in myofibrillar myopathies. 5
18765652 2008
10
Zaspopathy in a large classic late-onset distal myopathy family. 5
17337483 2007
11
Mutations in ZASP define a novel form of muscular dystrophy in humans. 5
15668942 2005
12
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. 62
27546599 2017

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

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

5 (show top 50) (show all 664)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LDB3, LOC110121486 NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) SNV Pathogenic
4728 rs121908334 GRCh37: 10:88446975-88446975
GRCh38: 10:86687218-86687218
2 LDB3, LOC110121486 NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) SNV Pathogenic/Likely Pathogenic
4727 rs121908333 GRCh37: 10:88446920-88446920
GRCh38: 10:86687163-86687163
3 LDB3 NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) SNV Conflicting Interpretations Of Pathogenicity
222687 rs200796750 GRCh37: 10:88466440-88466440
GRCh38: 10:86706683-86706683
4 LDB3, LOC110121486 NM_001368067.1(LDB3):c.546T>C (p.Ser182=) SNV Conflicting Interpretations Of Pathogenicity
43880 rs71473272 GRCh37: 10:88447027-88447027
GRCh38: 10:86687270-86687270
5 LDB3 NM_007078.3(LDB3):c.723C>T (p.Ser241=) SNV Conflicting Interpretations Of Pathogenicity
301336 rs200580597 GRCh37: 10:88451686-88451686
GRCh38: 10:86691929-86691929
6 LDB3 NM_007078.3(LDB3):c.690-4A>G SNV Conflicting Interpretations Of Pathogenicity
36448 rs45529531 GRCh37: 10:88451649-88451649
GRCh38: 10:86691892-86691892
7 LDB3, LOC110121486 NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) SNV Conflicting Interpretations Of Pathogenicity
163835 rs373632943 GRCh37: 10:88446992-88446992
GRCh38: 10:86687235-86687235
8 LDB3 NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) SNV Conflicting Interpretations Of Pathogenicity
45527 rs138951890 GRCh37: 10:88476387-88476387
GRCh38: 10:86716630-86716630
9 LDB3 NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) SNV Conflicting Interpretations Of Pathogenicity
45532 rs372331627 GRCh37: 10:88476524-88476524
GRCh38: 10:86716767-86716767
10 LDB3, LOC110121486 NM_001368067.1(LDB3):c.456G>A (p.Ala152=) SNV Conflicting Interpretations Of Pathogenicity
179019 rs371708921 GRCh37: 10:88446937-88446937
GRCh38: 10:86687180-86687180
11 LDB3, LOC110121486 NM_007078.3(LDB3):c.689+3861C>T SNV Conflicting Interpretations Of Pathogenicity
227494 rs754704023 GRCh37: 10:88445421-88445421
GRCh38: 10:86685664-86685664
12 LDB3 NM_007078.3(LDB3):c.-24+41G>A SNV Uncertain Significance
301330 rs45578532 GRCh37: 10:88428368-88428368
GRCh38: 10:86668611-86668611
13 LDB3, LOC110121486 NM_007078.3(LDB3):c.690-4617G>A SNV Uncertain Significance
301335 rs754174632 GRCh37: 10:88447036-88447036
GRCh38: 10:86687279-86687279
14 LDB3 NM_007078.3(LDB3):c.897-6665C>T SNV Uncertain Significance
301343 rs549156118 GRCh37: 10:88459623-88459623
GRCh38: 10:86699866-86699866
15 LDB3 NM_007078.3(LDB3):c.897-6525T>C SNV Uncertain Significance
301344 rs886047356 GRCh37: 10:88459763-88459763
GRCh38: 10:86700006-86700006
16 LDB3, LOC110121486 NM_001368067.1(LDB3):c.456G>T (p.Ala152=) SNV Uncertain Significance
43878 rs371708921 GRCh37: 10:88446937-88446937
GRCh38: 10:86687180-86687180
17 LDB3 NM_007078.3(LDB3):c.897-6909G>A SNV Uncertain Significance
301339 rs532856980 GRCh37: 10:88459379-88459379
GRCh38: 10:86699622-86699622
18 LDB3 NM_007078.3(LDB3):c.897-6831C>T SNV Uncertain Significance
301341 rs886047355 GRCh37: 10:88459457-88459457
GRCh38: 10:86699700-86699700
19 LDB3, LOC110121486 NM_007078.3(LDB3):c.690-4618C>A SNV Uncertain Significance
301334 rs764620834 GRCh37: 10:88447035-88447035
GRCh38: 10:86687278-86687278
20 LDB3 NM_007078.3(LDB3):c.896+6957G>A SNV Uncertain Significance
301337 rs886047354 GRCh37: 10:88459285-88459285
GRCh38: 10:86699528-86699528
21 LDB3 NM_007078.3(LDB3):c.30C>G (p.Pro10=) SNV Uncertain Significance
301332 rs766817285 GRCh37: 10:88428478-88428478
GRCh38: 10:86668721-86668721
22 LDB3 NM_007078.3(LDB3):c.897-6707G>A SNV Uncertain Significance
301342 rs537660741 GRCh37: 10:88459581-88459581
GRCh38: 10:86699824-86699824
23 LDB3, LOC110121486 NM_007078.3(LDB3):c.690-4619G>T SNV Uncertain Significance
301333 rs761090088 GRCh37: 10:88447034-88447034
GRCh38: 10:86687277-86687277
24 LDB3 NM_007078.3(LDB3):c.897-6834C>T SNV Uncertain Significance
301340 rs185972751 GRCh37: 10:88459454-88459454
GRCh38: 10:86699697-86699697
25 LDB3, LOC110121486 NM_001368067.1(LDB3):c.405C>G (p.His135Gln) SNV Uncertain Significance
406811 rs928294708 GRCh37: 10:88446886-88446886
GRCh38: 10:86687129-86687129
26 LDB3 NM_007078.3(LDB3):c.690-2A>G SNV Uncertain Significance
406801 rs1060501315 GRCh37: 10:88451651-88451651
GRCh38: 10:86691894-86691894
27 LDB3 NM_007078.3(LDB3):c.886C>T (p.Arg296Ter) SNV Uncertain Significance
406804 rs1060501316 GRCh37: 10:88452318-88452318
GRCh38: 10:86692561-86692561
28 LDB3 NM_007078.3(LDB3):c.23C>A (p.Thr8Asn) SNV Uncertain Significance
406807 rs1060501317 GRCh37: 10:88428471-88428471
GRCh38: 10:86668714-86668714
29 LDB3 NM_001368067.1(LDB3):c.772G>C (p.Glu258Gln) SNV Uncertain Significance
406799 rs868365512 GRCh37: 10:88459051-88459051
GRCh38: 10:86699294-86699294
30 LDB3, LOC110121486 NM_007078.3(LDB3):c.690-4619_690-4618delinsTA INDEL Uncertain Significance
406800 rs1060501314 GRCh37: 10:88447034-88447035
GRCh38: 10:86687277-86687278
31 LDB3 NM_007078.3(LDB3):c.91C>T (p.Arg31Trp) SNV Uncertain Significance
201857 rs367792378 GRCh37: 10:88428539-88428539
GRCh38: 10:86668782-86668782
32 LDB3 NM_007078.3(LDB3):c.1508G>A (p.Gly503Asp) SNV Uncertain Significance
1371128 GRCh37: 10:88476360-88476360
GRCh38: 10:86716603-86716603
33 LDB3 NM_007078.3(LDB3):c.1483A>G (p.Ser495Gly) SNV Uncertain Significance
1357718 GRCh37: 10:88476335-88476335
GRCh38: 10:86716578-86716578
34 LDB3 NM_007078.3(LDB3):c.1858-6C>T SNV Uncertain Significance
1412886 GRCh37: 10:88478478-88478478
GRCh38: 10:86718721-86718721
35 LDB3 NM_007078.3(LDB3):c.1446_1454del (p.Glu483_Ala485del) DEL Uncertain Significance
1419165 GRCh37: 10:88476293-88476301
GRCh38: 10:86716536-86716544
36 LDB3 NM_007078.3(LDB3):c.1654G>T (p.Gly552Cys) SNV Uncertain Significance
1460964 GRCh37: 10:88476506-88476506
GRCh38: 10:86716749-86716749
37 LDB3 NM_007078.3(LDB3):c.1001C>A (p.Pro334Gln) SNV Uncertain Significance
1479008 GRCh37: 10:88466392-88466392
GRCh38: 10:86706635-86706635
38 LDB3 NM_007078.3(LDB3):c.1565C>T (p.Thr522Ile) SNV Uncertain Significance
1490672 GRCh37: 10:88476417-88476417
GRCh38: 10:86716660-86716660
39 LDB3 NM_007078.3(LDB3):c.1777C>A (p.Gln593Lys) SNV Uncertain Significance
1463573 GRCh37: 10:88477821-88477821
GRCh38: 10:86718064-86718064
40 LDB3 NM_007078.3(LDB3):c.1074C>A (p.Ala358=) SNV Uncertain Significance
1506782 GRCh37: 10:88466465-88466465
GRCh38: 10:86706708-86706708
41 LDB3 NM_007078.3(LDB3):c.1591C>G (p.Leu531Val) SNV Uncertain Significance
1503115 GRCh37: 10:88476443-88476443
GRCh38: 10:86716686-86716686
42 LDB3 NM_007078.3(LDB3):c.2174T>C (p.Ile725Thr) SNV Uncertain Significance
1509037 GRCh37: 10:88492723-88492723
GRCh38: 10:86732966-86732966
43 LDB3 NM_007078.3(LDB3):c.2135A>G (p.Lys712Arg) SNV Uncertain Significance
1501787 GRCh37: 10:88492684-88492684
GRCh38: 10:86732927-86732927
44 LDB3 NM_007078.3(LDB3):c.1289C>G (p.Thr430Ser) SNV Uncertain Significance
1345300 GRCh37: 10:88476141-88476141
GRCh38: 10:86716384-86716384
45 LDB3 NM_007078.3(LDB3):c.937A>C (p.Thr313Pro) SNV Uncertain Significance
1503204 GRCh37: 10:88466328-88466328
GRCh38: 10:86706571-86706571
46 LDB3 NM_007078.3(LDB3):c.1957G>C (p.Gly653Arg) SNV Uncertain Significance
565522 rs149945820 GRCh37: 10:88478583-88478583
GRCh38: 10:86718826-86718826
47 LDB3 NM_007078.3(LDB3):c.2123C>T (p.Pro708Leu) SNV Uncertain Significance
571805 rs774815578 GRCh37: 10:88492672-88492672
GRCh38: 10:86732915-86732915
48 LDB3 NM_007078.3(LDB3):c.1736A>G (p.Tyr579Cys) SNV Uncertain Significance
191700 rs199749907 GRCh37: 10:88477780-88477780
GRCh38: 10:86718023-86718023
49 LDB3 NM_007078.3(LDB3):c.1505C>T (p.Pro502Leu) SNV Uncertain Significance
639660 rs528611881 GRCh37: 10:88476357-88476357
GRCh38: 10:86716600-86716600
50 LDB3 NM_007078.3(LDB3):c.1752G>C (p.Leu584=) SNV Uncertain Significance
640229 rs1589676711 GRCh37: 10:88477796-88477796
GRCh38: 10:86718039-86718039

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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