LGMD1
MCID: LMB073
MIFTS: 34

Limb-Girdle Muscular Dystrophy Type 1a (LGMD1)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases
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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 19
Lgmd1a 19 53
Dystrophy, Muscular, Limb-Girdle, Type 1a 38
Limb-Girdle Muscular Dystrophy, Type 1a 5
Muscular Dystrophy, Proximal, Type 1a 19
Lgmd1 19

Classifications:



Summaries for Limb-Girdle Muscular Dystrophy Type 1a

GARD: 19 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 Smooth Muscle Contraction. Affiliated tissues include myeloid and bone, and related phenotype is 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 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
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 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 105)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 3 31.1 TTN TCAP PKD2L2-DT MYOT FLNC DYSF
2 myopathy, spheroid body 29.0 TTN TRIM32 TCAP PKD2L2-DT MYOT FLNC
3 centronuclear myopathy 28.5 TTN MYOT DYSF CAV3 CAPN3
4 bethlem myopathy 1 28.5 TTN MYOT FLNC FKRP DYSF CAV3
5 limb-girdle muscular dystrophy 28.3 TTN TRIM32 TCAP MYOT FLNC FKRP
6 muscular dystrophy 28.3 TTN TRIM32 TCAP MYOT FLNC FKRP
7 myopathy 27.9 TTN TRIM32 TCAP MYOT FLNC FKRP
8 autosomal dominant limb-girdle muscular dystrophy 27.6 TTN TCAP MYOT FLNC FKRP DYSF
9 myofibrillar myopathy 27.3 TTN TRIM32 TCAP PKD2L2-DT MYOT FLNC
10 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 10.2 MYOT FLNC
11 scapuloperoneal myopathy 10.1 MYOT FLNC
12 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
13 muscular dystrophy-dystroglycanopathy , type c, 1 10.1 MYOT FKRP
14 paresthesia 10.0 FKRP CAPN3
15 cardiac sarcoidosis 10.0 TTN FLNC
16 mitochondrial dna depletion syndrome 12b 10.0 TTN FLNC
17 cardiomyopathy, dilated, 1b 10.0 TTN FLNC
18 muscular dystrophy-dystroglycanopathy , type c, 2 10.0 FKRP CAPN3
19 palmoplantar keratoderma, nonepidermolytic 10.0 TTN FLNC
20 multiminicore disease 10.0 TTN MYOT
21 myopathy, myofibrillar, 2 9.9 TTN MYOT FLNC
22 hyaline body myopathy 9.9 TTN MYOT FLNC
23 congenital structural myopathy 9.9 TTN MYOT FLNC
24 muscular dystrophy, limb-girdle, type 1h 9.9 MYOT CAV3
25 dysferlinopathy 9.9 DYSF CAPN3
26 muscular dystrophy, limb-girdle, autosomal dominant 3 9.9 MYOT CAV3
27 central core disease of muscle 9.9
28 leukemia, acute myeloid 9.9
29 myelodysplastic syndrome 9.9
30 respiratory failure 9.9
31 leukemia 9.9
32 nemaline myopathy 9.9
33 myeloid leukemia 9.9
34 acute myeloid leukemia with recurrent genetic anomaly 9.9
35 familial isolated dilated cardiomyopathy 9.9 TTN TCAP
36 familial woolly hair syndrome 9.9 TTN FLNC
37 myopathy with extrapyramidal signs 9.9 DYSF CAPN3
38 congenital muscular dystrophy-dystroglycanopathy type a 9.9 FKRP DYSF
39 myopathy, centronuclear, x-linked 9.8 TTN DYSF
40 myopathy, distal, 1 9.8 TTN MYOT DYSF
41 myopathy, distal, 4 9.8 FLNC DYSF CAPN3
42 muscle hypertrophy 9.8 TTN FKRP
43 autosomal recessive limb-girdle muscular dystrophy type 2x 9.8 DYSF CAV3
44 progressive muscular atrophy 9.7 CAV3 CAPN3
45 restrictive cardiomyopathy 9.7 TTN TCAP MYOT FLNC
46 miyoshi muscular dystrophy 3 9.7 FKRP DYSF CAPN3
47 cardiomyopathy, dilated, 3b 9.7 DYSF CAV3
48 muscular dystrophy, congenital merosin-deficient, 1a 9.7 FKRP DYSF CAPN3
49 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.7 FKRP DYSF CAPN3
50 ullrich congenital muscular dystrophy 1 9.7 FKRP DYSF 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 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

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

MalaCards : Myeloid, Bone

Publications for Limb-Girdle Muscular Dystrophy Type 1a

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

(show top 50) (show all 66)
# Title Authors PMID Year
1
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. 53 62 5
16801328 2006
2
Myotilinopathy: refining the clinical and myopathological phenotype. 53 62 5
15947064 2005
3
myotilin Mutation found in second pedigree with LGMD1A. 53 62 5
12428213 2002
4
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). 62 5
21336781 2011
5
Mutations in myotilin cause myofibrillar myopathy. 62 5
15111675 2004
6
Myotilin is mutated in limb girdle muscular dystrophy 1A. 62 5
10958653 2000
7
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 5
30055862 2018
8
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy. 5
27854214 2016
9
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. 5
26842778 2016
10
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. 5
25208129 2014
11
In vivo characterization of mutant myotilins. 5
22349301 2012
12
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. 5
21676617 2011
13
Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. 5
21361873 2011
14
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. 5
19225410 2009
15
Lower limb radiology of distal myopathy due to the S60F myotilin mutation. 5
19590214 2009
16
Myotilinopathy in a family with late onset myopathy. 5
16793270 2006
17
Different early pathogenesis in myotilinopathy compared to primary desminopathy. 5
16684602 2006
18
Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. 5
3275904 1988
19
Myotilin overexpression enhances myopathology in the LGMD1A mouse model. 53 62
18335471 2008
20
Myotilin: a prominent marker of myofibrillar remodelling. 53 62
17056257 2007
21
Characterization of mouse myotilin and its promoter. 53 62
15752755 2005
22
[Limb girdle muscular dystrophies]. 53 62
15316618 2004
23
Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. 53 62
12899871 2003
24
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. 53 62
12499399 2003
25
Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A. 53 62
11335118 2001
26
The complex synaptic pathways onto a looming-detector neuron revealed using serial block-face scanning electron microscopy. 62
34338325 2022
27
A Robust Visual System for Looming Cue Detection Against Translating Motion. 62
35188895 2022
28
Shaping the collision selectivity in a looming sensitive neuron model with parallel ON and OFF pathways and spike frequency adaptation. 62
30059829 2018
29
Untangling the complexity of limb-girdle muscular dystrophies. 62
29350766 2018
30
Making sense of the clinical spectrum of limb girdle muscular dystrophies. 62
29472383 2018
31
Rare disease clinical trials: Power in numbers. 62
27540592 2016
32
A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype. 62
26371419 2015
33
A look into the cockpit of the developing locust: looming detectors and predator avoidance. 62
24753464 2014
34
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 62
24647604 2014
35
Novel recessive myotilin mutation causes severe myofibrillar myopathy. 62
24928145 2014
36
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 62
24843229 2014
37
RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice. 62
24781192 2014
38
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F. 62
23632945 2013
39
Progressive muscular dystrophies. 62
23622359 2013
40
Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus. 62
21376592 2011
41
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. 62
20116073 2010
42
Myofibrillar myopathy with limb-girdle phenotype in a Thai patient. 62
19253808 2009
43
Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. 62
17074808 2007
44
Ins and outs of therapy in limb girdle muscular dystrophies. 62
17339125 2007
45
Limb-girdle muscular dystrophy in the United States. 62
17021404 2006
46
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. 62
15367920 2004
47
[Muscular dystrophy: advances in research works and therapeutic trials]. 62
15651326 2004
48
Molecular bases of autosomal recessive limb-girdle muscular dystrophies. 62
14959561 2003
49
[LGMD1A(myotilin deficiency)]. 62
11555993 2001
50
Immunocytochemical evidence that collision sensing neurons in the locust visual system contain acetylcholine. 62
10870080 2000

Variations for Limb-Girdle Muscular Dystrophy Type 1a

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

5 (show top 50) (show all 205)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.284G>T (p.Ser95Ile) SNV Pathogenic
5838 rs121908460 GRCh37: 5:137206624-137206624
GRCh38: 5:137870935-137870935
2 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) SNV Pathogenic
5836 rs121908458 GRCh37: 5:137206519-137206519
GRCh38: 5:137870830-137870830
3 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) SNV Pathogenic
5834 rs28937597 GRCh37: 5:137206510-137206510
GRCh38: 5:137870821-137870821
4 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) SNV Pathogenic
5837 rs121908458 GRCh37: 5:137206519-137206519
GRCh38: 5:137870830-137870830
5 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) SNV Pathogenic/Likely Pathogenic
5835 rs121908457 GRCh37: 5:137206504-137206504
GRCh38: 5:137870815-137870815
6 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.859G>A (p.Gly287Arg) SNV Uncertain Significance
809804 rs374221793 GRCh37: 5:137219115-137219115
GRCh38: 5:137883426-137883426
7 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.815A>C (p.Lys272Thr) SNV Uncertain Significance
1720359 GRCh37: 5:137217793-137217793
GRCh38: 5:137882104-137882104
8 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1454G>T (p.Arg485Leu) SNV Uncertain Significance
1715301 GRCh37: 5:137223031-137223031
GRCh38: 5:137887342-137887342
9 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.725C>T (p.Ala242Val) SNV Uncertain Significance
1719739 GRCh37: 5:137217703-137217703
GRCh38: 5:137882014-137882014
10 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) SNV Uncertain Significance
Uncertain Significance
351029 rs145427063 GRCh37: 5:137222978-137222978
GRCh38: 5:137887289-137887289
11 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.686G>A (p.Ser229Asn) SNV Uncertain Significance
839777 rs193920888 GRCh37: 5:137217664-137217664
GRCh38: 5:137881975-137881975
12 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.232G>A (p.Gly78Ser) SNV Uncertain Significance
950553 rs1755029530 GRCh37: 5:137206572-137206572
GRCh38: 5:137870883-137870883
13 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1370G>A (p.Arg457Gln) SNV Uncertain Significance
950692 rs755203621 GRCh37: 5:137222947-137222947
GRCh38: 5:137887258-137887258
14 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1084G>C (p.Glu362Gln) SNV Uncertain Significance
953464 rs755615381 GRCh37: 5:137221796-137221796
GRCh38: 5:137886107-137886107
15 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1266T>A (p.Thr422=) SNV Uncertain Significance
955677 rs760246681 GRCh37: 5:137222628-137222628
GRCh38: 5:137886939-137886939
16 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.524G>A (p.Gly175Glu) SNV Uncertain Significance
960021 rs1304612966 GRCh37: 5:137211685-137211685
GRCh38: 5:137875996-137875996
17 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.560G>A (p.Arg187His) SNV Uncertain Significance
961301 rs200273223 GRCh37: 5:137213237-137213237
GRCh38: 5:137877548-137877548
18 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.490A>C (p.Lys164Gln) SNV Uncertain Significance
970619 rs1214787397 GRCh37: 5:137211651-137211651
GRCh38: 5:137875962-137875962
19 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.335T>A (p.Ile112Asn) SNV Uncertain Significance
351022 rs752723849 GRCh37: 5:137206675-137206675
GRCh38: 5:137870986-137870986
20 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.17G>A (p.Arg6His) SNV Uncertain Significance
30407 rs387906882 GRCh37: 5:137206357-137206357
GRCh38: 5:137870668-137870668
21 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala) SNV Uncertain Significance
464366 rs766650528 GRCh37: 5:137222922-137222922
GRCh38: 5:137887233-137887233
22 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) SNV Uncertain Significance
Uncertain Significance
288959 rs144731446 GRCh37: 5:137222648-137222648
GRCh38: 5:137886959-137886959
23 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.816+5G>T SNV Uncertain Significance
533013 rs750433300 GRCh37: 5:137217799-137217799
GRCh38: 5:137882110-137882110
24 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe) SNV Uncertain Significance
283264 rs146426896 GRCh37: 5:137222990-137222990
GRCh38: 5:137887301-137887301
25 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) SNV Uncertain Significance
657395 rs373489115 GRCh37: 5:137221871-137221871
GRCh38: 5:137886182-137886182
26 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.182A>C (p.His61Pro) SNV Uncertain Significance
664775 rs372276337 GRCh37: 5:137206522-137206522
GRCh38: 5:137870833-137870833
27 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.701G>A (p.Arg234Lys) SNV Uncertain Significance
853618 rs1755447825 GRCh37: 5:137217679-137217679
GRCh38: 5:137881990-137881990
28 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.642C>A (p.Asn214Lys) SNV Uncertain Significance
1020719 rs957169726 GRCh37: 5:137216513-137216513
GRCh38: 5:137880824-137880824
29 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.122T>C (p.Ile41Thr) SNV Uncertain Significance
129682 rs587780396 GRCh37: 5:137206462-137206462
GRCh38: 5:137870773-137870773
30 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.98G>T (p.Ser33Ile) SNV Uncertain Significance
464376 rs1554102559 GRCh37: 5:137206438-137206438
GRCh38: 5:137870749-137870749
31 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.391G>T (p.Ala131Ser) SNV Uncertain Significance
464372 rs1554102961 GRCh37: 5:137211552-137211552
GRCh38: 5:137875863-137875863
32 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.372del (p.Ala125fs) DEL Uncertain Significance
464370 rs781353247 GRCh37: 5:137211533-137211533
GRCh38: 5:137875844-137875844
33 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.-286C>G SNV Uncertain Significance
903840 rs1281967239 GRCh37: 5:137203568-137203568
GRCh38: 5:137867879-137867879
34 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.348G>A (p.Met116Ile) SNV Uncertain Significance
903901 rs1295803826 GRCh37: 5:137206688-137206688
GRCh38: 5:137870999-137870999
35 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.356+13T>G SNV Uncertain Significance
903902 rs1461754985 GRCh37: 5:137206709-137206709
GRCh38: 5:137871020-137871020
36 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.*418T>C SNV Uncertain Significance
351033 rs778508971 GRCh37: 5:137223492-137223492
GRCh38: 5:137887803-137887803
37 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.758T>C (p.Ile253Thr) SNV Uncertain Significance
432877 rs201113539 GRCh37: 5:137217736-137217736
GRCh38: 5:137882047-137882047
38 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.655C>T (p.Arg219Ter) SNV Uncertain Significance
1018279 rs781249546 GRCh37: 5:137216526-137216526
GRCh38: 5:137880837-137880837
39 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.998C>T (p.Thr333Ile) SNV Uncertain Significance
521779 rs758194318 GRCh37: 5:137219254-137219254
GRCh38: 5:137883565-137883565
40 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.298A>G (p.Ile100Val) SNV Uncertain Significance
1163258 GRCh37: 5:137206638-137206638
GRCh38: 5:137870949-137870949
41 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.593T>C (p.Val198Ala) SNV Uncertain Significance
1379723 GRCh37: 5:137213270-137213270
GRCh38: 5:137877581-137877581
42 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.552G>C (p.Lys184Asn) SNV Uncertain Significance
1382936 GRCh37: 5:137213229-137213229
GRCh38: 5:137877540-137877540
43 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.982A>G (p.Arg328Gly) SNV Uncertain Significance
1402692 GRCh37: 5:137219238-137219238
GRCh38: 5:137883549-137883549
44 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr) SNV Uncertain Significance
1391939 GRCh37: 5:137206390-137206390
GRCh38: 5:137870701-137870701
45 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1253C>T (p.Ala418Val) SNV Uncertain Significance
1468116 GRCh37: 5:137222615-137222615
GRCh38: 5:137886926-137886926
46 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala) SNV Uncertain Significance
1464480 GRCh37: 5:137221844-137221844
GRCh38: 5:137886155-137886155
47 MYOT NC_000005.9:g.(?_137216485)_(137221922_?)del DEL Uncertain Significance
1433344 GRCh37: 5:137216485-137221922
GRCh38:
48 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1191C>T (p.Ser397=) SNV Uncertain Significance
1498343 GRCh37: 5:137222553-137222553
GRCh38: 5:137886864-137886864
49 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.1201G>T (p.Asp401Tyr) SNV Uncertain Significance
1522683 GRCh37: 5:137222563-137222563
GRCh38: 5:137886874-137886874
50 PKD2L2-DT, MYOT NM_006790.3(MYOT):c.680_683del (p.Val227fs) DEL Uncertain Significance
943798 rs775014749 GRCh37: 5:137216548-137216551
GRCh38: 5:137880859-137880862

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 T-tubule GO:0030315 9.73 DYSF CAV3 CAPN3
2 sarcolemma GO:0042383 9.65 MYOT FLNC FKRP DYSF CAV3
3 I band GO:0031674 9.62 TTN TCAP
4 titin-telethonin complex GO:1990733 9.46 TTN TCAP
5 Z disc GO:0030018 9.4 TTN TCAP MYOT FLNC CAV3 CAPN3

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane repair GO:0001778 9.84 DYSF CAV3
2 plasma membrane organization GO:0007009 9.83 DYSF CAV3
3 positive regulation of proteolysis GO:0045862 9.81 TRIM32 CAPN3
4 cardiac muscle tissue morphogenesis GO:0055008 9.8 TTN TCAP
5 muscle cell cellular homeostasis GO:0046716 9.8 TRIM32 CAV3 CAPN3
6 cardiac myofibril assembly GO:0055003 9.78 TTN TCAP
7 T-tubule organization GO:0033292 9.76 DYSF CAV3
8 skeletal muscle thin filament assembly GO:0030240 9.73 TTN TCAP
9 cardiac muscle cell development GO:0055013 9.73 TTN TCAP CAV3
10 skeletal muscle myosin thick filament assembly GO:0030241 9.71 TCAP TTN
11 sarcomerogenesis GO:0048769 9.67 TCAP TTN
12 cardiac muscle hypertrophy GO:0003300 9.63 TTN TCAP CAV3
13 detection of muscle stretch GO:0035995 9.43 TTN TCAP CAV3
14 sarcomere organization GO:0045214 9.23 TTN TCAP FLNC CAPN3

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

# Name GO ID Score Top Affiliating Genes
1 molecular adaptor activity GO:0060090 9.63 TCAP CAV3 CAPN3
2 titin binding GO:0031432 9.26 TCAP CAPN3
3 structural constituent of muscle GO:0008307 9.23 TTN TCAP MYOT CAPN3

Sources for Limb-Girdle Muscular Dystrophy Type 1a

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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