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MCID: ATS133
MIFTS: 22

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases
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Aliases & Classifications for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Muscle diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:0110306
ICD10 33 G71.0
UMLS 73 C1836765
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Summaries for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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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.

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

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

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

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

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

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

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

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

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

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

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

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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