MCID: ATS133
MIFTS: 22

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

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

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

Name: Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g 12 53 15
Limb-Girdle Muscular Dystrophy, Type 1g 53 29 13 6 73
Lgmd1g 12 53
Muscular Dystrophy Limb-Girdle Type 1g 12
Limb-Girdle Muscular Dystrophy Type 1g 53

Classifications:



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Disease Ontology 12 DOID:0110306
ICD10 33 G71.0
UMLS 73 C1836765

Summaries for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

MalaCards based summary : Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g, also known as limb-girdle muscular dystrophy, type 1g, is related to autosomal dominant limb-girdle muscular dystrophy and limb-girdle muscular dystrophy. An important gene associated with Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g is HNRNPDL (Heterogeneous Nuclear Ribonucleoprotein D Like). Related phenotype is Decreased HIV-1 infection.

Related Diseases for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant limb-girdle muscular dystrophy 29.6 DNAJB6 MYOT TNPO3
2 limb-girdle muscular dystrophy 29.3 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11
3 muscular dystrophy 29.3 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11
4 muscular dystrophy, limb-girdle, autosomal dominant 3 11.6
5 perrault syndrome 1 11.1
6 autosomal recessive limb-girdle muscular dystrophy type 2w 9.8 HNRNPDL TNPO3 TRAPPC11
7 muscular dystrophy-dystroglycanopathy , type c, 9 9.8 HNRNPDL TNPO3 TRAPPC11
8 muscular dystrophy-dystroglycanopathy , type c, 14 9.8 HNRNPDL TNPO3 TRAPPC11
9 muscular dystrophy-dystroglycanopathy , type c, 1 9.8 HNRNPDL TNPO3 TRAPPC11
10 muscular dystrophy-dystroglycanopathy , type c, 7 9.8 HNRNPDL TNPO3 TRAPPC11
11 autosomal recessive limb-girdle muscular dystrophy type 2r 9.8 HNRNPDL TNPO3 TRAPPC11
12 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 HNRNPDL TNPO3 TRAPPC11
13 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 HNRNPDL TNPO3 TRAPPC11
14 autosomal recessive limb-girdle muscular dystrophy type 2a 9.8 DNAJB6 MYOT
15 myopathy, myofibrillar, 3 9.8 DNAJB6 MYOT
16 myopathy, spheroid body 9.8 DNAJB6 MYOT
17 myofibrillar myopathy 9.7 DNAJB6 MYOT
18 autosomal dominant limb-girdle muscular dystrophy type 1b 9.7 DNAJB6 HNRNPDL TNPO3
19 autosomal dominant limb-girdle muscular dystrophy type 1c 9.7 DNAJB6 HNRNPDL TNPO3
20 muscular disease 9.6 DNAJB6 MYOT
21 muscular dystrophy, limb-girdle, type 1h 9.5 DNAJB6 HNRNPDL MYOT TNPO3
22 autosomal recessive limb-girdle muscular dystrophy type 2q 9.5 DNAJB6 HNRNPDL MYOT TNPO3
23 autosomal dominant limb-girdle muscular dystrophy type 1f 9.5 DNAJB6 HNRNPDL MYOT TNPO3
24 muscular dystrophy, limb-girdle, autosomal dominant 1 9.3 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11

Graphical network of the top 20 diseases related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g:



Diseases related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

GenomeRNAi Phenotypes related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g 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 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

Genetic Tests for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

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

Anatomical Context for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Publications for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Variations for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

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 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Search GEO for disease gene expression data for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g.

Pathways for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

GO Terms for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Cellular components related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g according to GeneCards Suite gene sharing:

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

Sources for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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