MCID: MSC062
MIFTS: 31

Muscular Dystrophy, Limb-Girdle, Type 2q

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type 2q

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 2q:

Name: Muscular Dystrophy, Limb-Girdle, Type 2q 57 12 53 13 73
Lgmd2q 57 12 53 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 12 53 59 15
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Plectin Deficiency 12 53 59
Limb-Girdle Muscular Dystrophy, Type 2q 29 6
Dystrophy, Muscular, Limb-Girdle, Type 2q 40
Limb-Girdle Muscular Dystrophy Type 2q 53
Limb-Girdle Muscular Dystrophy 2q 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2q
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
rapid progression in adolescence
adults may lose ability to walk


HPO:

32
muscular dystrophy, limb-girdle, type 2q:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613723
Disease Ontology 12 DOID:0110285
ICD10 33 G71.0
Orphanet 59 ORPHA254361
ICD10 via Orphanet 34 G71.0
MedGen 42 C3150989
MeSH 44 D049288
UMLS 73 C3150989

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2q

OMIM : 57 Limb-girdle muscular dystrophy type 2Q is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by Gundesli et al., 2010). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy (LGMD), see LGMD2A (253600). (613723)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 2q, also known as lgmd2q, is related to muscular dystrophy-dystroglycanopathy , type c, 4 and autosomal recessive limb-girdle muscular dystrophy type 2e, and has symptoms including generalized muscle weakness An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2q is PLEC (Plectin). Affiliated tissues include skin and skeletal muscle, and related phenotypes are motor delay and flexion contracture

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the PLEC1 gene.

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2Q: A form of limb-girdle muscular dystrophy characterized by early childhood onset of proximal muscle weakness. Limb-girdle muscular dystrophies are characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 2q

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2q via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 4 9.7 HNRNPDL TRAPPC11
2 autosomal recessive limb-girdle muscular dystrophy type 2e 9.6 HNRNPDL TRAPPC11
3 muscular dystrophy-dystroglycanopathy , type c, 9 9.3 HNRNPDL TNPO3 TRAPPC11
4 muscular dystrophy, limb-girdle, type 2w 9.3 HNRNPDL TNPO3 TRAPPC11
5 muscular dystrophy, limb-girdle, type 2r 9.2 HNRNPDL TNPO3 TRAPPC11
6 muscular dystrophy-dystroglycanopathy , type c, 14 9.2 HNRNPDL TNPO3 TRAPPC11
7 muscular dystrophy-dystroglycanopathy , type c, 7 9.2 HNRNPDL TNPO3 TRAPPC11
8 muscular dystrophy-dystroglycanopathy , type c, 3 9.2 HNRNPDL TNPO3 TRAPPC11
9 muscular dystrophy-dystroglycanopathy , type c, 1 9.1 HNRNPDL TNPO3 TRAPPC11
10 muscular dystrophy-dystroglycanopathy , type c, 2 9.1 HNRNPDL TNPO3 TRAPPC11
11 muscular dystrophy, limb-girdle, type 1h 9.0 DNAJB6 HNRNPDL TNPO3
12 autosomal dominant limb-girdle muscular dystrophy type 1c 8.9 DNAJB6 HNRNPDL TNPO3
13 autosomal dominant limb-girdle muscular dystrophy 8.9 DNAJB6 TNPO3
14 muscular dystrophy, limb-girdle, type 1b 8.7 DNAJB6 HNRNPDL TNPO3
15 autosomal dominant limb-girdle muscular dystrophy type 1g 8.4 DNAJB6 HNRNPDL TNPO3 TRAPPC11
16 muscular dystrophy, limb-girdle, type 1f 8.4 DNAJB6 HNRNPDL TNPO3 TRAPPC11
17 muscular dystrophy, limb-girdle, type 1e 8.4 DNAJB6 HNRNPDL TNPO3 TRAPPC11
18 limb-girdle muscular dystrophy 7.8 DNAJB6 HNRNPDL PLEC TNPO3 TRAPPC11
19 muscular dystrophy 7.8 DNAJB6 HNRNPDL PLEC TNPO3 TRAPPC11

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 2q:



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2q

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 2q

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
generalized muscle weakness
proximal muscle weakness
gowers sign
muscle atrophy
muscular dystrophy, limb-girdle
more
Skeletal Spine:
lumbar lordosis

Skeletal:
contractures, late-onset

Neurologic Central Nervous System:
delayed motor development

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

613723

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2q:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 motor delay 32 HP:0001270
2 flexion contracture 32 HP:0001371
3 lumbar hyperlordosis 32 HP:0002938
4 skeletal muscle atrophy 32 HP:0003202
5 elevated serum creatine phosphokinase 32 HP:0003236
6 generalized muscle weakness 32 HP:0003324
7 gowers sign 32 HP:0003391
8 difficulty climbing stairs 32 HP:0003551
9 muscular dystrophy 32 HP:0003560

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Type 2q:


generalized muscle weakness

GenomeRNAi Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2q according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HIV-1 infection GR00226-A 8.62 HNRNPDL TNPO3

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type 2q

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 2q

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2q

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 2q:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2q 29 PLEC

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2q

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 2q:

41
Skin, Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Type 2q

Variations for Muscular Dystrophy, Limb-Girdle, Type 2q

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2q:

75
# Symbol AA change Variation ID SNP ID
1 PLEC p.Gly3945Ser VAR_076565

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2q:

6
(show top 50) (show all 1240)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEC NM_201378.3(PLEC): c.1_9delATGGCCGGC (p.Met1_Gly3del) deletion Pathogenic rs864309673 GRCh37 Chromosome 8, 145047632: 145047640
2 PLEC NM_201378.3(PLEC): c.1_9delATGGCCGGC (p.Met1_Gly3del) deletion Pathogenic rs864309673 GRCh38 Chromosome 8, 143973464: 143973472
3 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh37 Chromosome 8, 144996236: 144996236
4 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh38 Chromosome 8, 143922068: 143922068
5 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh37 Chromosome 8, 144999499: 144999499
6 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh38 Chromosome 8, 143925331: 143925331
7 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh37 Chromosome 8, 144998621: 144998621
8 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh38 Chromosome 8, 143924453: 143924453
9 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh37 Chromosome 8, 144992552: 144992552
10 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh38 Chromosome 8, 143918384: 143918384
11 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh37 Chromosome 8, 144992781: 144992781
12 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh38 Chromosome 8, 143918613: 143918613
13 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh37 Chromosome 8, 144996159: 144996159
14 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh38 Chromosome 8, 143921991: 143921991
15 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh37 Chromosome 8, 144998781: 144998781
16 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh38 Chromosome 8, 143924613: 143924613
17 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh37 Chromosome 8, 145012789: 145012789
18 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh38 Chromosome 8, 143938621: 143938621
19 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh37 Chromosome 8, 145008990: 145008990
20 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh38 Chromosome 8, 143934822: 143934822
21 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh37 Chromosome 8, 145008497: 145008497
22 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh38 Chromosome 8, 143934329: 143934329
23 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh37 Chromosome 8, 145007153: 145007153
24 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh38 Chromosome 8, 143932985: 143932985
25 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh37 Chromosome 8, 145005769: 145005769
26 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh38 Chromosome 8, 143931601: 143931601
27 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh37 Chromosome 8, 145004474: 145004474
28 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh38 Chromosome 8, 143930306: 143930306
29 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh37 Chromosome 8, 145004373: 145004373
30 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh38 Chromosome 8, 143930205: 143930205
31 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh37 Chromosome 8, 145003893: 145003893
32 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh38 Chromosome 8, 143929725: 143929725
33 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh37 Chromosome 8, 145003702: 145003702
34 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh38 Chromosome 8, 143929534: 143929534
35 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh37 Chromosome 8, 145003685: 145003685
36 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh38 Chromosome 8, 143929517: 143929517
37 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh37 Chromosome 8, 145003360: 145003360
38 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh38 Chromosome 8, 143929192: 143929192
39 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh37 Chromosome 8, 145003321: 145003321
40 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh38 Chromosome 8, 143929153: 143929153
41 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh37 Chromosome 8, 145001589: 145001589
42 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh38 Chromosome 8, 143927421: 143927421
43 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh37 Chromosome 8, 145001603: 145001603
44 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh38 Chromosome 8, 143927435: 143927435
45 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs151022876 GRCh37 Chromosome 8, 145001482: 145001482
46 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs151022876 GRCh38 Chromosome 8, 143927314: 143927314
47 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Likely benign rs148465219 GRCh37 Chromosome 8, 145001205: 145001205
48 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Likely benign rs148465219 GRCh38 Chromosome 8, 143927037: 143927037
49 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh37 Chromosome 8, 145000968: 145000968
50 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh38 Chromosome 8, 143926800: 143926800

Expression for Muscular Dystrophy, Limb-Girdle, Type 2q

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Pathways for Muscular Dystrophy, Limb-Girdle, Type 2q

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 2q

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