LGMD1
MCID: LMB073
MIFTS: 34

Limb-Girdle Muscular Dystrophy Type 1a (LGMD1)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Limb-Girdle Muscular Dystrophy Type 1a

MalaCards integrated aliases for Limb-Girdle Muscular Dystrophy Type 1a:

Name: Limb-Girdle Muscular Dystrophy Type 1a 20
Lgmd1a 20 54
Dystrophy, Muscular, Limb-Girdle, Type 1a 39
Limb-Girdle Muscular Dystrophy, Type 1a 6
Muscular Dystrophy, Proximal, Type 1a 20
Lgmd1 20

Classifications:



Summaries for Limb-Girdle Muscular Dystrophy Type 1a

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 266 Definition A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.

MalaCards based summary : Limb-Girdle Muscular Dystrophy Type 1a, also known as lgmd1a, is related to myopathy, myofibrillar, 3 and myopathy, spheroid body. An important gene associated with Limb-Girdle Muscular Dystrophy Type 1a is MYOT (Myotilin), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include myeloid and heart, and related phenotypes are homeostasis/metabolism and muscle

Related Diseases for Limb-Girdle Muscular Dystrophy Type 1a

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Limb-Girdle Muscular Dystrophy Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 3 31.2 TTN TCAP MYOT FLNC DYSF CAPN3
2 myopathy, spheroid body 29.8 TCAP MYOT FLNC
3 bethlem myopathy 1 29.7 MYOT FKRP DYSF CAPN3
4 centronuclear myopathy 29.1 TTN DYSF CAV3
5 autosomal dominant limb-girdle muscular dystrophy 28.8 TCAP MYOT FLNC CAV3 CAPN3
6 myofibrillar myopathy 28.5 TTN TCAP MYOT FLNC DYSF CAPN3
7 limb-girdle muscular dystrophy 28.4 TTN TRIM32 TCAP MYOT FKRP DYSF
8 muscular dystrophy 28.1 TTN TRIM32 TCAP MYOT FLNC FKRP
9 myopathy 27.8 TTN TRIM32 TCAP MYOT FLNC FKRP
10 myopathy, myofibrillar, 2 10.2 MYOT FLNC
11 autosomal recessive limb-girdle muscular dystrophy type 2q 10.2 TCAP MYOT
12 muscular dystrophy-dystroglycanopathy , type c, 1 10.1 MYOT FKRP
13 autosomal dominant distal myopathy 10.1 TTN MYOT
14 paresthesia 10.0 FKRP CAPN3
15 mitochondrial dna depletion syndrome 12b 10.0 TTN FLNC
16 muscular dystrophy-dystroglycanopathy , type c, 2 10.0 FKRP CAPN3
17 hyaline body myopathy 10.0 TTN MYOT FLNC
18 muscular dystrophy, limb-girdle, type 1h 10.0 MYOT CAV3
19 congenital structural myopathy 9.9 TTN MYOT FLNC
20 myopathy, myofibrillar, 5 9.9 TTN MYOT FLNC
21 polyglucosan body myopathy 1 with or without immunodeficiency 9.9 FKRP CAPN3
22 dysferlinopathy 9.9 DYSF CAPN3
23 muscular dystrophy, limb-girdle, autosomal dominant 3 9.9 MYOT CAV3
24 cardiomyopathy, dilated, 1a 9.9 TTN MYOT
25 miyoshi muscular dystrophy 3 9.9 DYSF CAPN3
26 muscular dystrophy, congenital merosin-deficient, 1a 9.9 FKRP DYSF
27 central core disease of muscle 9.9
28 leukemia, acute myeloid 9.9
29 respiratory failure 9.9
30 leukemia 9.9
31 nemaline myopathy 9.9
32 central core myopathy 9.9
33 myeloid leukemia 9.9
34 myopathy, centronuclear, 1 9.9 MYOT FLNC DYSF
35 epidermolysis bullosa simplex with muscular dystrophy 9.9 TTN TRIM32 FKRP
36 foot drop 9.8 TTN MYOT DYSF
37 batten-turner congenital myopathy 9.8 TTN MYOT DYSF
38 muscle hypertrophy 9.8 TTN FKRP
39 congenital fiber-type disproportion 9.8 TTN MYOT DYSF
40 progressive muscular atrophy 9.8 CAV3 CAPN3
41 myopathy, myofibrillar, 4 9.7 TTN TCAP MYOT FLNC
42 muscular dystrophy, becker type 9.7 FKRP DYSF CAPN3
43 rippling muscle disease 2 9.7 DYSF CAV3
44 left ventricular noncompaction 9.7 TTN TCAP MYOT FLNC
45 ullrich congenital muscular dystrophy 1 9.7 FKRP DYSF CAPN3
46 atrial standstill 1 9.7 TTN MYOT FLNC FKRP
47 myopathy, myofibrillar, 1 9.7 TTN MYOT FLNC CAPN3
48 myositis 9.6 TTN DYSF CAPN3
49 autosomal recessive limb-girdle muscular dystrophy type 2x 9.6 MYOT DYSF CAV3
50 glycogen storage disease ii 9.6 FKRP CAV3 CAPN3

Graphical network of the top 20 diseases related to Limb-Girdle Muscular Dystrophy Type 1a:



Diseases related to Limb-Girdle Muscular Dystrophy Type 1a

Symptoms & Phenotypes for Limb-Girdle Muscular Dystrophy Type 1a

MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy Type 1a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 CAPN3 CAV3 DYSF FKRP FLNC TCAP
2 muscle MP:0005369 9.23 CAPN3 CAV3 DYSF FKRP FLNC TCAP

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy Type 1a

Search Clinical Trials , NIH Clinical Center for Limb-Girdle Muscular Dystrophy Type 1a

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 1a

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 1a

MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy Type 1a:

40
Myeloid, Heart

Publications for Limb-Girdle Muscular Dystrophy Type 1a

Articles related to Limb-Girdle Muscular Dystrophy Type 1a:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. 6 54 61
16801328 2006
2
Myotilinopathy: refining the clinical and myopathological phenotype. 54 6 61
15947064 2005
3
myotilin Mutation found in second pedigree with LGMD1A. 6 54 61
12428213 2002
4
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). 6 61
21336781 2011
5
Mutations in myotilin cause myofibrillar myopathy. 6 61
15111675 2004
6
Myotilin is mutated in limb girdle muscular dystrophy 1A. 6 61
10958653 2000
7
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 6
30055862 2018
8
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. 6
27854214 2016
9
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. 6
26842778 2016
10
Myofibrillar myopathies: State of the art, present and future challenges. 6
26342832 2015
11
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. 6
25208129 2014
12
In vivo characterization of mutant myotilins. 6
22349301 2012
13
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. 6
21676617 2011
14
Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. 6
21361873 2011
15
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. 6
19225410 2009
16
Lower limb radiology of distal myopathy due to the S60F myotilin mutation. 6
19590214 2009
17
Myotilinopathy in a family with late onset myopathy. 6
16793270 2006
18
Different early pathogenesis in myotilinopathy compared to primary desminopathy. 6
16684602 2006
19
Why Goethe rejected Newton's theory of light. 6
9027924 1996
20
Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. 6
3275904 1988
21
Myotilin overexpression enhances myopathology in the LGMD1A mouse model. 54 61
18335471 2008
22
Myotilin: a prominent marker of myofibrillar remodelling. 54 61
17056257 2007
23
Characterization of mouse myotilin and its promoter. 61 54
15752755 2005
24
[Limb girdle muscular dystrophies]. 54 61
15316618 2004
25
Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. 54 61
12899871 2003
26
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. 54 61
12499399 2003
27
Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A. 54 61
11335118 2001
28
Untangling the complexity of limb-girdle muscular dystrophies. 61
29350766 2018
29
Rare disease clinical trials: Power in numbers. 61
27540592 2016
30
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 61
24647604 2014
31
Novel recessive myotilin mutation causes severe myofibrillar myopathy. 61
24928145 2014
32
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
33
RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice. 61
24781192 2014
34
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. 61
23632945 2013
35
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. 61
20116073 2010
36
Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. 61
17074808 2007
37
Ins and outs of therapy in limb girdle muscular dystrophies. 61
17339125 2007
38
Limb-girdle muscular dystrophy in the United States. 61
17021404 2006
39
[Muscular dystrophy: advances in research works and therapeutic trials]. 61
15651326 2004
40
[LGMD1A(myotilin deficiency)]. 61
11555993 2001
41
Limb-Girdle Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301582 2000
42
Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. 61
10369880 1999
43
A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences. 61
10191080 1999
44
Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. 61
9828127 1998
45
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. 61
9598725 1998
46
Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy. 61
9529338 1998
47
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 61
9537420 1998
48
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. 61
9106535 1997
49
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. 61
8841194 1996
50
Limb-girdle muscular dystrophy: a follow-up study of 79 patients. 61
8899051 1996

Variations for Limb-Girdle Muscular Dystrophy Type 1a

ClinVar genetic disease variations for Limb-Girdle Muscular Dystrophy Type 1a:

6 (show top 50) (show all 127)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.179C>G (p.Ser60Cys) SNV Pathogenic 5836 rs121908458 GRCh37: 5:137206519-137206519
GRCh38: 5:137870830-137870830
2 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.179C>T (p.Ser60Phe) SNV Pathogenic 5837 rs121908458 GRCh37: 5:137206519-137206519
GRCh38: 5:137870830-137870830
3 PKD2L2-DT , MYOT NM_001135940.2(MYOT):c.-197+410G>T SNV Pathogenic 5838 rs121908460 GRCh37: 5:137206624-137206624
GRCh38: 5:137870935-137870935
4 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.170C>T (p.Thr57Ile) SNV Pathogenic 5834 rs28937597 GRCh37: 5:137206510-137206510
GRCh38: 5:137870821-137870821
5 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.164C>T (p.Ser55Phe) SNV Pathogenic 5835 rs121908457 GRCh37: 5:137206504-137206504
GRCh38: 5:137870815-137870815
6 PKD2L2-DT , MYOT NM_001135940.2(MYOT):c.-197+193C>T SNV Uncertain significance 596221 rs751876756 GRCh37: 5:137206407-137206407
GRCh38: 5:137870718-137870718
7 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1139T>C (p.Leu380Pro) SNV Uncertain significance 650010 rs902179316 GRCh37: 5:137221851-137221851
GRCh38: 5:137886162-137886162
8 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1413G>T (p.Leu471Phe) SNV Uncertain significance 283264 rs146426896 GRCh37: 5:137222990-137222990
GRCh38: 5:137887301-137887301
9 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.392C>A (p.Ala131Glu) SNV Uncertain significance 655808 rs982468554 GRCh37: 5:137211553-137211553
GRCh38: 5:137875864-137875864
10 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1159G>A (p.Glu387Lys) SNV Uncertain significance 657395 rs373489115 GRCh37: 5:137221871-137221871
GRCh38: 5:137886182-137886182
11 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.86C>T (p.Ser29Phe) SNV Uncertain significance 657688 rs1580847200 GRCh37: 5:137206426-137206426
GRCh38: 5:137870737-137870737
12 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.83C>T (p.Thr28Ile) SNV Uncertain significance 657689 rs767662244 GRCh37: 5:137206423-137206423
GRCh38: 5:137870734-137870734
13 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1195T>C (p.Tyr399His) SNV Uncertain significance 657756 rs147239483 GRCh37: 5:137222557-137222557
GRCh38: 5:137886868-137886868
14 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.650A>G (p.His217Arg) SNV Uncertain significance 662891 rs758565747 GRCh37: 5:137216521-137216521
GRCh38: 5:137880832-137880832
15 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.182A>C (p.His61Pro) SNV Uncertain significance 664775 rs372276337 GRCh37: 5:137206522-137206522
GRCh38: 5:137870833-137870833
16 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.966A>G (p.Ala322=) SNV Uncertain significance 842280 GRCh37: 5:137219222-137219222
GRCh38: 5:137883533-137883533
17 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln) SNV Uncertain significance 842635 GRCh37: 5:137221896-137221896
GRCh38: 5:137886207-137886207
18 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.629C>T (p.Ser210Leu) SNV Uncertain significance 598376 rs756669574 GRCh37: 5:137213306-137213306
GRCh38: 5:137877617-137877617
19 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.1418T>C (p.Val473Ala) SNV Uncertain significance 847336 GRCh37: 5:137222995-137222995
GRCh38: 5:137887306-137887306
20 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.147G>C (p.Glu49Asp) SNV Uncertain significance 852985 GRCh37: 5:137206487-137206487
GRCh38: 5:137870798-137870798
21 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.701G>A (p.Arg234Lys) SNV Uncertain significance 853618 GRCh37: 5:137217679-137217679
GRCh38: 5:137881990-137881990
22 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg) SNV Uncertain significance 858164 GRCh37: 5:137223048-137223048
GRCh38: 5:137887359-137887359
23 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.1025-3T>C SNV Uncertain significance 859200 GRCh37: 5:137221734-137221734
GRCh38: 5:137886045-137886045
24 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.686G>A (p.Ser229Asn) SNV Uncertain significance 839777 GRCh37: 5:137217664-137217664
GRCh38: 5:137881975-137881975
25 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.-286C>G SNV Uncertain significance 903840 GRCh37: 5:137203568-137203568
GRCh38: 5:137867879-137867879
26 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.348G>A (p.Met116Ile) SNV Uncertain significance 903901 GRCh37: 5:137206688-137206688
GRCh38: 5:137870999-137870999
27 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.356+13T>G SNV Uncertain significance 903902 GRCh37: 5:137206709-137206709
GRCh38: 5:137871020-137871020
28 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.*418T>C SNV Uncertain significance 351033 rs778508971 GRCh37: 5:137223492-137223492
GRCh38: 5:137887803-137887803
29 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1222T>C (p.Leu408=) SNV Uncertain significance 351028 rs886059968 GRCh37: 5:137222584-137222584
GRCh38: 5:137886895-137886895
30 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.191T>A (p.Met64Lys) SNV Uncertain significance 906250 GRCh37: 5:137206531-137206531
GRCh38: 5:137870842-137870842
31 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.*50T>G SNV Uncertain significance 906367 GRCh37: 5:137223124-137223124
GRCh38: 5:137887435-137887435
32 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.*188A>C SNV Uncertain significance 906368 GRCh37: 5:137223262-137223262
GRCh38: 5:137887573-137887573
33 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.*311A>T SNV Uncertain significance 907372 GRCh37: 5:137223385-137223385
GRCh38: 5:137887696-137887696
34 PKD2L2-DT , MYOT NM_006790.3(MYOT):c.*372G>A SNV Uncertain significance 907373 GRCh37: 5:137223446-137223446
GRCh38: 5:137887757-137887757
35 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.816+5G>T SNV Uncertain significance 533013 rs750433300 GRCh37: 5:137217799-137217799
GRCh38: 5:137882110-137882110
36 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly) SNV Uncertain significance 288959 rs144731446 GRCh37: 5:137222648-137222648
GRCh38: 5:137886959-137886959
37 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.398C>T (p.Pro133Leu) SNV Uncertain significance 533010 rs779568205 GRCh37: 5:137211559-137211559
GRCh38: 5:137875870-137875870
38 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.937G>A (p.Val313Ile) SNV Uncertain significance 533011 rs760955035 GRCh37: 5:137219193-137219193
GRCh38: 5:137883504-137883504
39 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.257C>A (p.Thr86Lys) SNV Uncertain significance 499699 rs1205992276 GRCh37: 5:137206597-137206597
GRCh38: 5:137870908-137870908
40 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.563G>T (p.Arg188Ile) SNV Uncertain significance 286597 rs370165036 GRCh37: 5:137213240-137213240
GRCh38: 5:137877551-137877551
41 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.653C>A (p.Ala218Glu) SNV Uncertain significance 567277 rs533510304 GRCh37: 5:137216524-137216524
GRCh38: 5:137880835-137880835
42 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.145G>C (p.Glu49Gln) SNV Uncertain significance 571511 rs199760778 GRCh37: 5:137206485-137206485
GRCh38: 5:137870796-137870796
43 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1364G>C (p.Arg455Pro) SNV Uncertain significance 580973 rs141801816 GRCh37: 5:137222941-137222941
GRCh38: 5:137887252-137887252
44 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1A>T (p.Met1Leu) SNV Uncertain significance 580989 rs1561657261 GRCh37: 5:137206341-137206341
GRCh38: 5:137870652-137870652
45 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1364G>A (p.Arg455Gln) SNV Uncertain significance 583005 rs141801816 GRCh37: 5:137222941-137222941
GRCh38: 5:137887252-137887252
46 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly) SNV Uncertain significance 288959 rs144731446 GRCh37: 5:137222648-137222648
GRCh38: 5:137886959-137886959
47 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys) SNV Uncertain significance 351029 rs145427063 GRCh37: 5:137222978-137222978
GRCh38: 5:137887289-137887289
48 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.784G>C (p.Asp262His) SNV Uncertain significance 641132 rs1271782226 GRCh37: 5:137217762-137217762
GRCh38: 5:137882073-137882073
49 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.17G>A (p.Arg6His) SNV Uncertain significance 30407 rs387906882 GRCh37: 5:137206357-137206357
GRCh38: 5:137870668-137870668
50 PKD2L2-DT , MYOT NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys) SNV Uncertain significance 351029 rs145427063 GRCh37: 5:137222978-137222978
GRCh38: 5:137887289-137887289

Expression for Limb-Girdle Muscular Dystrophy Type 1a

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy Type 1a.

Pathways for Limb-Girdle Muscular Dystrophy Type 1a

GO Terms for Limb-Girdle Muscular Dystrophy Type 1a

Cellular components related to Limb-Girdle Muscular Dystrophy Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.92 TTN TRIM32 TCAP MYOT FLNC FKRP
2 sarcolemma GO:0042383 9.35 MYOT FLNC FKRP DYSF CAV3
3 T-tubule GO:0030315 9.33 DYSF CAV3 CAPN3
4 I band GO:0031674 9.26 TTN TCAP
5 Z disc GO:0030018 9.1 TTN TCAP MYOT FLNC CAV3 CAPN3

Biological processes related to Limb-Girdle Muscular Dystrophy Type 1a according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 response to calcium ion GO:0051592 9.58 TTN CAPN3
2 cardiac muscle contraction GO:0060048 9.57 TTN TCAP
3 muscle filament sliding GO:0030049 9.56 TTN TCAP
4 plasma membrane organization GO:0007009 9.55 DYSF CAV3
5 positive regulation of proteolysis GO:0045862 9.54 TRIM32 CAPN3
6 plasma membrane repair GO:0001778 9.52 DYSF CAV3
7 cardiac muscle tissue morphogenesis GO:0055008 9.51 TTN TCAP
8 cardiac myofibril assembly GO:0055003 9.49 TTN TCAP
9 cardiac muscle hypertrophy GO:0003300 9.48 TTN TCAP
10 T-tubule organization GO:0033292 9.46 DYSF CAV3
11 cardiac muscle fiber development GO:0048739 9.43 TTN TCAP
12 sarcomere organization GO:0045214 9.43 TTN TCAP CAPN3
13 skeletal muscle thin filament assembly GO:0030240 9.4 TTN TCAP
14 sarcomerogenesis GO:0048769 9.37 TTN TCAP
15 muscle cell cellular homeostasis GO:0046716 9.33 TRIM32 CAV3 CAPN3
16 skeletal muscle myosin thick filament assembly GO:0030241 9.32 TTN TCAP
17 muscle contraction GO:0006936 9.26 TTN MYOT DYSF CAV3
18 detection of muscle stretch GO:0035995 8.8 TTN TCAP CAV3

Molecular functions related to Limb-Girdle Muscular Dystrophy Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein self-association GO:0043621 9.16 TTN TRIM32
2 titin binding GO:0031432 8.96 TCAP CAPN3
3 structural constituent of muscle GO:0008307 8.92 TTN TCAP MYOT CAPN3

Sources for Limb-Girdle Muscular Dystrophy Type 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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