LGMDD3
MCID: MSC180
MIFTS: 29

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 (LGMDD3)

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 58 76
Lgmd1g 58 12 54 60 76
Limb-Girdle Muscular Dystrophy, Type 1g 54 30 13 6
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g 12 54 60
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3 12 15
Muscular Dystrophy, Limb-Girdle, Type 1g 58 76
Lgmdd3 58 76
Muscular Dystrophy, Limb-Girdle, Type 1g; Lgmd1g 58
Dystrophy, Muscular, Limb-Girdle, Type 1g 41
Muscular Dystrophy Limb-Girdle Type 1g 12
Limb-Girdle Muscular Dystrophy Type 1g 54
Limb-Girdle Muscular Dystrophy 1g 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant limb-girdle muscular dystrophy type 1g
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

58
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:

33
muscular dystrophy, limb-girdle, autosomal dominant 3:
Onset and clinical course adult onset incomplete penetrance slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110306
OMIM 58 609115
MeSH 45 D049288
ICD10 34 G71.0
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C1836765
Orphanet 60 ORPHA55596
MedGen 43 C1836765

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

UniProtKB/Swiss-Prot : 76 Muscular dystrophy, limb-girdle, autosomal dominant 3: 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. LGMDD3 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 and limb-girdle muscular dystrophy. 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

Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the HNRNPDL gene on chromosome 4q21.

OMIM : 58 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 25 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 Dominant 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant limb-girdle muscular dystrophy 29.7 DNAJB6 MYOT TNPO3
2 limb-girdle muscular dystrophy 29.1 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11
3 muscular dystrophy 28.4 DNAJB6 HNRNPDL LIMS2 MYOT TNPO3 TRAPPC11
4 cone-rod dystrophy and hearing loss 2 11.2
5 autosomal recessive limb-girdle muscular dystrophy type 2a 9.9 DNAJB6 MYOT
6 myopathy, myofibrillar, 3 9.8 DNAJB6 MYOT
7 muscular disease 9.8 DNAJB6 MYOT
8 myopathy, spheroid body 9.8 DNAJB6 MYOT
9 autosomal recessive limb-girdle muscular dystrophy type 2w 9.8 HNRNPDL TNPO3 TRAPPC11
10 muscular dystrophy-dystroglycanopathy , type c, 9 9.7 HNRNPDL TNPO3 TRAPPC11
11 muscular dystrophy-dystroglycanopathy , type c, 14 9.7 HNRNPDL TNPO3 TRAPPC11
12 muscular dystrophy-dystroglycanopathy , type c, 1 9.7 HNRNPDL TNPO3 TRAPPC11
13 muscular dystrophy-dystroglycanopathy , type c, 7 9.7 HNRNPDL TNPO3 TRAPPC11
14 muscular dystrophy-dystroglycanopathy , type c, 3 9.7 HNRNPDL TNPO3 TRAPPC11
15 muscular dystrophy-dystroglycanopathy , type c, 2 9.7 HNRNPDL TNPO3 TRAPPC11
16 myofibrillar myopathy 9.7 DNAJB6 MYOT
17 muscular dystrophy, limb-girdle, type 1h 9.5 DNAJB6 HNRNPDL MYOT TNPO3
18 autosomal recessive limb-girdle muscular dystrophy type 2q 9.4 DNAJB6 HNRNPDL MYOT TNPO3
19 muscular dystrophy, limb-girdle, autosomal dominant 1 9.2 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11

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

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

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 myopathy 33 HP:0003198
3 limb-girdle muscular dystrophy 33 HP:0006785
4 rimmed vacuoles 33 HP:0003805
5 proximal upper limb amyotrophy 33 HP:0008948
6 proximal lower limb amyotrophy 33 HP:0008956
7 pelvic girdle muscle weakness 33 HP:0003749
8 hyporeflexia 33 HP:0001265
9 shoulder girdle muscle weakness 33 HP:0003547
10 elevated serum creatine kinase 33 HP:0003236
11 decreased movement range in interphalangeal joints 33 HP:0006203
12 flexion limitation of toes 33 HP:0008116

Symptoms via clinical synopsis from OMIM:

58
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

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

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

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1g 30 HNRNPDL

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
2
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. ( 15367920 )
2004

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

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

76
# 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 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 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 rs1289857424 GRCh38 Chromosome 4, 82429584: 82429584
26 HNRNPDL NM_031372.3(HNRNPDL): c.107G> T (p.Arg36Leu) single nucleotide variant Uncertain significance rs1289857424 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 rs1553901266 GRCh37 Chromosome 4, 83350719: 83350720
34 HNRNPDL NM_031372.3(HNRNPDL): c.124_125delCTinsTC (p.Leu42Ser) indel Likely benign rs1553901266 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 rs1553900864 GRCh37 Chromosome 4, 83348352: 83348352
44 HNRNPDL NM_031372.3(HNRNPDL): c.1012C> T (p.Arg338Cys) single nucleotide variant Likely pathogenic rs1553900864 GRCh38 Chromosome 4, 82427199: 82427199
45 HNRNPDL NM_031372.3(HNRNPDL): c.874G> A (p.Glu292Lys) single nucleotide variant Uncertain significance rs1553900899 GRCh38 Chromosome 4, 82427465: 82427465
46 HNRNPDL NM_031372.3(HNRNPDL): c.874G> A (p.Glu292Lys) single nucleotide variant Uncertain significance rs1553900899 GRCh37 Chromosome 4, 83348618: 83348618
47 HNRNPDL NM_031372.3(HNRNPDL): c.35C> T (p.Pro12Leu) single nucleotide variant Uncertain significance rs1362920184 GRCh38 Chromosome 4, 82429656: 82429656
48 HNRNPDL NM_031372.3(HNRNPDL): c.35C> T (p.Pro12Leu) single nucleotide variant Uncertain significance rs1362920184 GRCh37 Chromosome 4, 83350809: 83350809
49 HNRNPDL NM_031372.3(HNRNPDL): c.10C> T (p.Pro4Ser) single nucleotide variant Uncertain significance rs1269836189 GRCh37 Chromosome 4, 83350834: 83350834
50 HNRNPDL NM_031372.3(HNRNPDL): c.10C> T (p.Pro4Ser) single nucleotide variant Uncertain significance rs1269836189 GRCh38 Chromosome 4, 82429681: 82429681

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

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3.

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

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

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.62 DNAJB6 MYOT

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

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