LGMD1G
MCID: MSC180
MIFTS: 25

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 (LGMD1G)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 57
Lgmd1g 57 59 75
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g 59
Muscular Dystrophy, Limb-Girdle, Type 1g; Lgmd1g 57
Dystrophy, Muscular, Limb-Girdle, Type 1g 40
Muscular Dystrophy, Limb-Girdle, Type 1g 57
Limb-Girdle Muscular Dystrophy 1g 75
Lgmdd3 57

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
muscular dystrophy, limb-girdle, autosomal dominant 3:
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

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

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.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3, also known as lgmd1g, is related to autosomal dominant limb-girdle muscular dystrophy type 1g and perrault syndrome 1. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 is HNRNPDL (Heterogeneous Nuclear Ribonucleoprotein D Like). Related phenotypes are cataract and myopathy

OMIM : 57 Autosomal dominant limb-girdle muscular dystrophy-3 is 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 LGMDD1 (603511). (609115)

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 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 11.6
2 perrault syndrome 1 11.1
3 muscular dystrophy 10.2
4 limb-girdle muscular dystrophy 10.2
5 autosomal dominant limb-girdle muscular dystrophy 10.1

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

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 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3:

32 (show all 12)
# 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 limb-girdle muscular dystrophy 32 HP:0006785
5 rimmed vacuoles 32 HP:0003805
6 proximal upper limb amyotrophy 32 HP:0008948
7 proximal lower limb amyotrophy 32 HP:0008956
8 pelvic girdle muscle weakness 32 HP:0003749
9 hyporeflexia 32 HP:0001265
10 shoulder girdle muscle weakness 32 HP:0003547
11 decreased movement range in interphalangeal joints 32 HP:0006203
12 flexion limitation of toes 32 HP:0008116

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3:

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

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3:

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 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3:

6 (show top 50) (show all 70)
# 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 GRCh37 Chromosome 4, 83348465: 83348465
8 HNRNPDL NM_031372.3(HNRNPDL): c.907-8delG deletion Benign rs527520007 GRCh38 Chromosome 4, 82427312: 82427312
9 HNRNPDL NM_031372.3(HNRNPDL): c.356C> T (p.Thr119Ile) single nucleotide variant Benign rs75779369 GRCh37 Chromosome 4, 83350488: 83350488
10 HNRNPDL NM_031372.3(HNRNPDL): c.356C> T (p.Thr119Ile) single nucleotide variant Benign rs75779369 GRCh38 Chromosome 4, 82429335: 82429335
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 GRCh37 Chromosome 4, 83350530: 83350530
14 HNRNPDL NM_031372.3(HNRNPDL): c.314C> T (p.Thr105Ile) single nucleotide variant Uncertain significance rs763175161 GRCh38 Chromosome 4, 82429377: 82429377
15 HNRNPDL NM_031372.3(HNRNPDL): c.153G> A (p.Arg51=) single nucleotide variant Likely benign rs370944367 GRCh37 Chromosome 4, 83350691: 83350691
16 HNRNPDL NM_031372.3(HNRNPDL): c.153G> A (p.Arg51=) single nucleotide variant Likely benign rs370944367 GRCh38 Chromosome 4, 82429538: 82429538
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 GRCh38 Chromosome 4, 82429577: 82429577
24 HNRNPDL NM_031372.3(HNRNPDL): c.114A> G (p.Leu38=) single nucleotide variant Likely benign rs771120108 GRCh37 Chromosome 4, 83350730: 83350730
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 GRCh38 Chromosome 4, 82427252: 82427257
38 HNRNPDL NM_031372.3(HNRNPDL): c.954_959delGCAACA (p.Gln320_Gln321del) deletion Uncertain significance rs763843229 GRCh37 Chromosome 4, 83348405: 83348410
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 GRCh37 Chromosome 4, 83348618: 83348618
46 HNRNPDL NM_031372.3(HNRNPDL): c.874G> A (p.Glu292Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 82427465: 82427465
47 HNRNPDL NM_031372.3(HNRNPDL): c.35C> T (p.Pro12Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 4, 83350809: 83350809
48 HNRNPDL NM_031372.3(HNRNPDL): c.35C> T (p.Pro12Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 4, 82429656: 82429656
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 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

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GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

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