LGMDR17
MCID: MSC183
MIFTS: 25

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 (LGMDR17)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 58 76
Muscular Dystrophy, Limb-Girdle, Type 2q 58 54 76 13
Lgmd2q 58 54 60 76
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Plectin Deficiency 54 60
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 54 60
Limb-Girdle Muscular Dystrophy, Type 2q 30 6
Lgmdr17 58 76
Muscular Dystrophy, Limb-Girdle, Type 2q; Lgmd2q 58
Dystrophy, Muscular, Limb-Girdle, Type 2q 41
Limb-Girdle Muscular Dystrophy Type 2q 54
Limb-Girdle Muscular Dystrophy 2q 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive limb-girdle muscular dystrophy type 2q
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
muscular dystrophy, limb-girdle, autosomal recessive 17:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

OMIM : 58 Autosomal recessive limb-girdle muscular dystrophy-17 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, see LGMDR1 (253600). (613723)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17, also known as muscular dystrophy, limb-girdle, type 2q, is related to autosomal recessive limb-girdle muscular dystrophy type 2q, and has symptoms including generalized muscle weakness An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 is PLEC (Plectin). Affiliated tissues include skin and skeletal muscle, and related phenotypes are flexion contracture and generalized muscle weakness

UniProtKB/Swiss-Prot : 76 Muscular dystrophy, limb-girdle, autosomal recessive 17: 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, Autosomal Recessive 17

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 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 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

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2q 11.7

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 flexion contracture 33 HP:0001371
2 generalized muscle weakness 33 HP:0003324
3 skeletal muscle atrophy 33 HP:0003202
4 motor delay 33 HP:0001270
5 muscular dystrophy 33 HP:0003560
6 gowers sign 33 HP:0003391
7 difficulty climbing stairs 33 HP:0003551
8 lumbar hyperlordosis 33 HP:0002938
9 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:


generalized muscle weakness

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

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, Autosomal Recessive 17

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2q 30 PLEC

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:

42
Skin, Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:

76
# Symbol AA change Variation ID SNP ID
1 PLEC p.Gly3945Ser VAR_076565

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17:

6 (show top 50) (show all 1702)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh37 Chromosome 8, 144996236: 144996236
2 PLEC NM_000445.4(PLEC): c.7834G> C (p.Glu2612Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200488179 GRCh38 Chromosome 8, 143922068: 143922068
3 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh37 Chromosome 8, 144999499: 144999499
4 PLEC NM_000445.4(PLEC): c.4679G> A (p.Arg1560Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs201430180 GRCh38 Chromosome 8, 143925331: 143925331
5 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh37 Chromosome 8, 144998621: 144998621
6 PLEC NM_000445.4(PLEC): c.5557C> T (p.Arg1853Trp) single nucleotide variant Benign/Likely benign rs200575795 GRCh38 Chromosome 8, 143924453: 143924453
7 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh37 Chromosome 8, 144992552: 144992552
8 PLEC NM_000445.4(PLEC): c.11518C> T (p.Arg3840Cys) single nucleotide variant Uncertain significance rs201666443 GRCh38 Chromosome 8, 143918384: 143918384
9 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh37 Chromosome 8, 144992781: 144992781
10 PLEC NM_000445.4(PLEC): c.11289G> A (p.Pro3763=) single nucleotide variant Benign rs200273549 GRCh38 Chromosome 8, 143918613: 143918613
11 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh37 Chromosome 8, 144996159: 144996159
12 PLEC NM_000445.4(PLEC): c.7911G> A (p.Ala2637=) single nucleotide variant Conflicting interpretations of pathogenicity rs376112916 GRCh38 Chromosome 8, 143921991: 143921991
13 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh37 Chromosome 8, 144998781: 144998781
14 PLEC NM_000445.4(PLEC): c.5397G> A (p.Ala1799=) single nucleotide variant Benign rs62642466 GRCh38 Chromosome 8, 143924613: 143924613
15 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh37 Chromosome 8, 145012789: 145012789
16 PLEC NM_000445.4(PLEC): c.255+10delG deletion Conflicting interpretations of pathogenicity rs528031000 GRCh38 Chromosome 8, 143938621: 143938621
17 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh37 Chromosome 8, 145008990: 145008990
18 PLEC NM_000445.4(PLEC): c.1014C> T (p.Phe338=) single nucleotide variant Conflicting interpretations of pathogenicity rs369363676 GRCh38 Chromosome 8, 143934822: 143934822
19 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh37 Chromosome 8, 145008497: 145008497
20 PLEC NM_000445.4(PLEC): c.1239C> G (p.Ser413Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201667254 GRCh38 Chromosome 8, 143934329: 143934329
21 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh37 Chromosome 8, 145007153: 145007153
22 PLEC NM_000445.4(PLEC): c.1626C> T (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs199968254 GRCh38 Chromosome 8, 143932985: 143932985
23 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh37 Chromosome 8, 145005769: 145005769
24 PLEC NM_000445.4(PLEC): c.2318G> A (p.Arg773His) single nucleotide variant Conflicting interpretations of pathogenicity rs200887085 GRCh38 Chromosome 8, 143931601: 143931601
25 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh37 Chromosome 8, 145004474: 145004474
26 PLEC NM_000445.4(PLEC): c.2539-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201818691 GRCh38 Chromosome 8, 143930306: 143930306
27 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh37 Chromosome 8, 145004373: 145004373
28 PLEC NM_000445.4(PLEC): c.2632G> A (p.Val878Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200647397 GRCh38 Chromosome 8, 143930205: 143930205
29 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh37 Chromosome 8, 145003893: 145003893
30 PLEC NM_000445.4(PLEC): c.2925C> T (p.Pro975=) single nucleotide variant Conflicting interpretations of pathogenicity rs200482255 GRCh38 Chromosome 8, 143929725: 143929725
31 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh37 Chromosome 8, 145003702: 145003702
32 PLEC NM_000445.4(PLEC): c.3042C> T (p.Ser1014=) single nucleotide variant Benign rs149932255 GRCh38 Chromosome 8, 143929534: 143929534
33 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh37 Chromosome 8, 145003685: 145003685
34 PLEC NM_000445.4(PLEC): c.3059G> A (p.Arg1020Gln) single nucleotide variant Benign/Likely benign rs534045685 GRCh38 Chromosome 8, 143929517: 143929517
35 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh37 Chromosome 8, 145003360: 145003360
36 PLEC NM_000445.4(PLEC): c.3252G> A (p.Ser1084=) single nucleotide variant Benign/Likely benign rs371271326 GRCh38 Chromosome 8, 143929192: 143929192
37 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh37 Chromosome 8, 145003321: 145003321
38 PLEC NM_000445.4(PLEC): c.3291G> A (p.Thr1097=) single nucleotide variant Benign/Likely benign rs375699173 GRCh38 Chromosome 8, 143929153: 143929153
39 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh37 Chromosome 8, 145001589: 145001589
40 PLEC NM_000445.4(PLEC): c.3826C> A (p.Arg1276=) single nucleotide variant Benign/Likely benign rs201552166 GRCh38 Chromosome 8, 143927421: 143927421
41 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh37 Chromosome 8, 145001603: 145001603
42 PLEC NM_000445.4(PLEC): c.3812T> G (p.Val1271Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs187648086 GRCh38 Chromosome 8, 143927435: 143927435
43 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Benign/Likely benign rs151022876 GRCh37 Chromosome 8, 145001482: 145001482
44 PLEC NM_000445.4(PLEC): c.3859C> G (p.Arg1287Gly) single nucleotide variant Benign/Likely benign rs151022876 GRCh38 Chromosome 8, 143927314: 143927314
45 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs148465219 GRCh37 Chromosome 8, 145001205: 145001205
46 PLEC NM_000445.4(PLEC): c.3966G> A (p.Pro1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs148465219 GRCh38 Chromosome 8, 143927037: 143927037
47 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh37 Chromosome 8, 145000968: 145000968
48 PLEC NM_000445.4(PLEC): c.4109G> A (p.Arg1370His) single nucleotide variant Uncertain significance rs371776565 GRCh38 Chromosome 8, 143926800: 143926800
49 PLEC NM_000445.4(PLEC): c.7348G> A (p.Ala2450Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193257576 GRCh37 Chromosome 8, 144996830: 144996830
50 PLEC NM_000445.4(PLEC): c.7348G> A (p.Ala2450Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs193257576 GRCh38 Chromosome 8, 143922662: 143922662

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

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Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17

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