MCID: LMB047
MIFTS: 26

Limb-Girdle Muscular Dystrophy, Type 1g

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

Aliases & Classifications for Limb-Girdle Muscular Dystrophy, Type 1g

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

Name: Limb-Girdle Muscular Dystrophy, Type 1g 57 29 13 6 73
Lgmd1g 57 59 75
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g 59
Dystrophy, Muscular, Limb-Girdle, Type 1g 40
Muscular Dystrophy, Limb-Girdle, Type 1g 57
Limb-Girdle Muscular Dystrophy 1g 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant limb-girdle muscular dystrophy type 1g
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
slow progression
two unrelated families have been reported (last curated august 2014)
adult onset (range 15 to 53 years)
mild disease course


HPO:

32
limb-girdle muscular dystrophy, type 1g:
Onset and clinical course adult onset incomplete penetrance slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 609115
Orphanet 59 ORPHA55596
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C1836765
MedGen 42 C1836765
MeSH 44 D049288
UMLS 73 C1836765

Summaries for Limb-Girdle Muscular Dystrophy, Type 1g

OMIM : 57 Limb-girdle muscular dystrophy type 1G is an autosomal dominant disorder characterized by slowly progressive proximal muscle weakness affecting the upper and lower limbs. Onset is usually in adulthood, but can occur during the teenage years. Affected individuals may also develop cataracts before age 50 (summary by Vieira et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMD1A (159000). (609115)

MalaCards based summary : Limb-Girdle Muscular Dystrophy, Type 1g, also known as lgmd1g, is related to autosomal dominant limb-girdle muscular dystrophy type 1g and limb-girdle muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy, Type 1g is HNRNPDL (Heterogeneous Nuclear Ribonucleoprotein D Like). Related phenotypes are cataract and myopathy

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 1G: An autosomal dominant degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD1G is characterized by a mild late-onset and is associated with progressive fingers and toes flexion limitation. Affected individuals may also develop cataracts before age 50.

Related Diseases for Limb-Girdle Muscular Dystrophy, Type 1g

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 Limb-Girdle Muscular Dystrophy, Type 1g via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant limb-girdle muscular dystrophy type 1g 12.6
2 limb-girdle muscular dystrophy 10.2
3 muscular dystrophy 10.2
4 chromosome 4q21 deletion syndrome 9.0 ENOPH1 HNRNPDL

Symptoms & Phenotypes for Limb-Girdle Muscular Dystrophy, Type 1g

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
rimmed vacuoles
shoulder girdle muscle weakness
hip girdle muscle weakness (usually presenting symptom)
proximal lower limb muscle atrophy
proximal upper limb muscle atrophy
more
Laboratory Abnormalities:
increased serum creatine kinase

Skeletal Feet:
decreased movement range in interphalangeal joints
flexion limitation of toes, progressive, permanent

Head And Neck Eyes:
cataracts

Skeletal Hands:
flexion limitation of fingers, progressive, permanent
decreased movement range in interphalangeal joints


Clinical features from OMIM:

609115

Human phenotypes related to Limb-Girdle Muscular Dystrophy, Type 1g:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 myopathy 32 HP:0003198
3 elevated serum creatine phosphokinase 32 HP:0003236
4 shoulder girdle muscle weakness 32 HP:0003547
5 pelvic girdle muscle weakness 32 HP:0003749
6 rimmed vacuoles 32 HP:0003805
7 decreased movement range in interphalangeal joints 32 HP:0006203
8 limb-girdle muscular dystrophy 32 HP:0006785
9 flexion limitation of toes 32 HP:0008116
10 proximal upper limb amyotrophy 32 HP:0008948
11 proximal lower limb amyotrophy 32 HP:0008956

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy, Type 1g

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

Genetic Tests for Limb-Girdle Muscular Dystrophy, Type 1g

Genetic tests related to Limb-Girdle Muscular Dystrophy, Type 1g:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1g 29 HNRNPDL

Anatomical Context for Limb-Girdle Muscular Dystrophy, Type 1g

Publications for Limb-Girdle Muscular Dystrophy, Type 1g

Articles related to Limb-Girdle Muscular Dystrophy, Type 1g:

# Title Authors Year
1
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). ( 24647604 )
2014

Variations for Limb-Girdle Muscular Dystrophy, Type 1g

UniProtKB/Swiss-Prot genetic disease variations for Limb-Girdle Muscular Dystrophy, Type 1g:

75
# Symbol AA change Variation ID SNP ID
1 HNRNPDL p.Asp378His VAR_072567 rs587777669
2 HNRNPDL p.Asp378Asn VAR_072568 rs587777669

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

6
(show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 HNRNPDL NM_031372.3(HNRNPDL): c.1132G> A (p.Asp378Asn) single nucleotide variant Pathogenic rs587777669 GRCh37 Chromosome 4, 83347676: 83347676
2 HNRNPDL NM_031372.3(HNRNPDL): c.1132G> A (p.Asp378Asn) single nucleotide variant Pathogenic rs587777669 GRCh38 Chromosome 4, 82426523: 82426523
3 HNRNPDL NM_031372.3(HNRNPDL): c.1132G> C (p.Asp378His) single nucleotide variant Pathogenic rs587777669 GRCh37 Chromosome 4, 83347676: 83347676
4 HNRNPDL NM_031372.3(HNRNPDL): c.1132G> C (p.Asp378His) single nucleotide variant Pathogenic rs587777669 GRCh38 Chromosome 4, 82426523: 82426523
5 HNRNPDL NM_031372.3(HNRNPDL): c.1209T> C (p.Tyr403=) single nucleotide variant Benign rs79373393 GRCh37 Chromosome 4, 83347266: 83347266
6 HNRNPDL NM_031372.3(HNRNPDL): c.1209T> C (p.Tyr403=) single nucleotide variant Benign rs79373393 GRCh38 Chromosome 4, 82426113: 82426113
7 HNRNPDL NM_031372.3(HNRNPDL): c.907-8delG deletion Benign rs527520007 GRCh38 Chromosome 4, 82427312: 82427312
8 HNRNPDL NM_031372.3(HNRNPDL): c.907-8delG deletion Benign rs527520007 GRCh37 Chromosome 4, 83348465: 83348465
9 HNRNPDL NM_031372.3(HNRNPDL): c.356C> T (p.Thr119Ile) single nucleotide variant Benign rs75779369 GRCh38 Chromosome 4, 82429335: 82429335
10 HNRNPDL NM_031372.3(HNRNPDL): c.356C> T (p.Thr119Ile) single nucleotide variant Benign rs75779369 GRCh37 Chromosome 4, 83350488: 83350488
11 HNRNPDL NM_031372.3(HNRNPDL): c.330G> A (p.Gln110=) single nucleotide variant Benign rs370279130 GRCh38 Chromosome 4, 82429361: 82429361
12 HNRNPDL NM_031372.3(HNRNPDL): c.330G> A (p.Gln110=) single nucleotide variant Benign rs370279130 GRCh37 Chromosome 4, 83350514: 83350514
13 HNRNPDL NM_031372.3(HNRNPDL): c.314C> T (p.Thr105Ile) single nucleotide variant Uncertain significance rs763175161 GRCh38 Chromosome 4, 82429377: 82429377
14 HNRNPDL NM_031372.3(HNRNPDL): c.314C> T (p.Thr105Ile) single nucleotide variant Uncertain significance rs763175161 GRCh37 Chromosome 4, 83350530: 83350530
15 HNRNPDL NM_031372.3(HNRNPDL): c.153G> A (p.Arg51=) single nucleotide variant Likely benign rs370944367 GRCh38 Chromosome 4, 82429538: 82429538
16 HNRNPDL NM_031372.3(HNRNPDL): c.153G> A (p.Arg51=) single nucleotide variant Likely benign rs370944367 GRCh37 Chromosome 4, 83350691: 83350691
17 HNRNPDL NM_031372.3(HNRNPDL): c.113T> C (p.Leu38Pro) single nucleotide variant Uncertain significance rs373042980 GRCh38 Chromosome 4, 82429578: 82429578
18 HNRNPDL NM_031372.3(HNRNPDL): c.113T> C (p.Leu38Pro) single nucleotide variant Uncertain significance rs373042980 GRCh37 Chromosome 4, 83350731: 83350731
19 HNRNPDL NM_031372.3(HNRNPDL): c.98_112delGGCCGCCGCGGCAGC (p.Arg33_Gln37del) deletion Uncertain significance rs749981753 GRCh38 Chromosome 4, 82429579: 82429593
20 HNRNPDL NM_031372.3(HNRNPDL): c.98_112delGGCCGCCGCGGCAGC (p.Arg33_Gln37del) deletion Uncertain significance rs749981753 GRCh37 Chromosome 4, 83350732: 83350746
21 HNRNPDL NM_031372.3(HNRNPDL): c.169G> A (p.Ala57Thr) single nucleotide variant Uncertain significance rs775253636 GRCh37 Chromosome 4, 83350675: 83350675
22 HNRNPDL NM_031372.3(HNRNPDL): c.169G> A (p.Ala57Thr) single nucleotide variant Uncertain significance rs775253636 GRCh38 Chromosome 4, 82429522: 82429522
23 HNRNPDL NM_031372.3(HNRNPDL): c.114A> G (p.Leu38=) single nucleotide variant Likely benign rs771120108 GRCh37 Chromosome 4, 83350730: 83350730
24 HNRNPDL NM_031372.3(HNRNPDL): c.114A> G (p.Leu38=) single nucleotide variant Likely benign rs771120108 GRCh38 Chromosome 4, 82429577: 82429577
25 HNRNPDL NM_031372.3(HNRNPDL): c.107G> T (p.Arg36Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 82429584: 82429584
26 HNRNPDL NM_031372.3(HNRNPDL): c.107G> T (p.Arg36Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 83350737: 83350737
27 HNRNPDL NM_031372.3(HNRNPDL): c.840A> G (p.Thr280=) single nucleotide variant Benign rs61729822 GRCh37 Chromosome 4, 83348652: 83348652
28 HNRNPDL NM_031372.3(HNRNPDL): c.840A> G (p.Thr280=) single nucleotide variant Benign rs61729822 GRCh38 Chromosome 4, 82427499: 82427499
29 HNRNPDL NM_031372.3(HNRNPDL): c.443+10G> C single nucleotide variant Likely benign rs201715406 GRCh37 Chromosome 4, 83350391: 83350391
30 HNRNPDL NM_031372.3(HNRNPDL): c.443+10G> C single nucleotide variant Likely benign rs201715406 GRCh38 Chromosome 4, 82429238: 82429238
31 HNRNPDL NM_031372.3(HNRNPDL): c.253C> T (p.Leu85Phe) single nucleotide variant Uncertain significance rs760917145 GRCh37 Chromosome 4, 83350591: 83350591
32 HNRNPDL NM_031372.3(HNRNPDL): c.253C> T (p.Leu85Phe) single nucleotide variant Uncertain significance rs760917145 GRCh38 Chromosome 4, 82429438: 82429438
33 HNRNPDL NM_031372.3(HNRNPDL): c.124_125delCTinsTC (p.Leu42Ser) indel Likely benign GRCh37 Chromosome 4, 83350719: 83350720
34 HNRNPDL NM_031372.3(HNRNPDL): c.124_125delCTinsTC (p.Leu42Ser) indel Likely benign GRCh38 Chromosome 4, 82429566: 82429567
35 HNRNPDL NM_031372.3(HNRNPDL): c.81C> T (p.Leu27=) single nucleotide variant Benign rs61737724 GRCh37 Chromosome 4, 83350763: 83350763
36 HNRNPDL NM_031372.3(HNRNPDL): c.81C> T (p.Leu27=) single nucleotide variant Benign rs61737724 GRCh38 Chromosome 4, 82429610: 82429610
37 HNRNPDL NM_031372.3(HNRNPDL): c.954_959delGCAACA (p.Gln320_Gln321del) deletion Uncertain significance rs763843229 GRCh37 Chromosome 4, 83348405: 83348410
38 HNRNPDL NM_031372.3(HNRNPDL): c.954_959delGCAACA (p.Gln320_Gln321del) deletion Uncertain significance rs763843229 GRCh38 Chromosome 4, 82427252: 82427257
39 HNRNPDL NM_031372.3(HNRNPDL): c.110A> C (p.Gln37Pro) single nucleotide variant Uncertain significance rs911762606 GRCh37 Chromosome 4, 83350734: 83350734
40 HNRNPDL NM_031372.3(HNRNPDL): c.110A> C (p.Gln37Pro) single nucleotide variant Uncertain significance rs911762606 GRCh38 Chromosome 4, 82429581: 82429581
41 HNRNPDL NM_031372.3(HNRNPDL): c.57C> T (p.Pro19=) single nucleotide variant Likely benign rs189841383 GRCh37 Chromosome 4, 83350787: 83350787
42 HNRNPDL NM_031372.3(HNRNPDL): c.57C> T (p.Pro19=) single nucleotide variant Likely benign rs189841383 GRCh38 Chromosome 4, 82429634: 82429634
43 HNRNPDL NM_031372.3(HNRNPDL): c.1012C> T (p.Arg338Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 4, 83348352: 83348352
44 HNRNPDL NM_031372.3(HNRNPDL): c.1012C> T (p.Arg338Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 4, 82427199: 82427199
45 HNRNPDL NM_031372.3(HNRNPDL): c.874G> A (p.Glu292Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 82427465: 82427465
46 HNRNPDL NM_031372.3(HNRNPDL): c.874G> A (p.Glu292Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 83348618: 83348618
47 HNRNPDL NM_031372.3(HNRNPDL): c.35C> T (p.Pro12Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 82429656: 82429656
48 HNRNPDL NM_031372.3(HNRNPDL): c.35C> T (p.Pro12Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 83350809: 83350809
49 HNRNPDL NM_031372.3(HNRNPDL): c.10C> T (p.Pro4Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 83350834: 83350834
50 HNRNPDL NM_031372.3(HNRNPDL): c.10C> T (p.Pro4Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 82429681: 82429681

Expression for Limb-Girdle Muscular Dystrophy, Type 1g

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Pathways for Limb-Girdle Muscular Dystrophy, Type 1g

GO Terms for Limb-Girdle Muscular Dystrophy, Type 1g

Sources for Limb-Girdle Muscular Dystrophy, Type 1g

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