LGMDD3
MCID: MSC180
MIFTS: 38

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

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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 72
Limb-Girdle Muscular Dystrophy, Type 1g 20 29 13 6 70
Lgmd1g 57 12 20 58 72
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g 12 20 58
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3 12 15
Hnrnpdl-Related Limb-Girdle Muscular Dystrophy D3 20 58
Muscular Dystrophy, Limb-Girdle, Type 1g 57 72
Limb-Girdle Muscular Dystrophy Type 1g 20 58
Hnrnpdl-Related Lgmd D3 20 58
Lgmd Type 1g 20 58
Lgmdd3 57 72
Muscular Dystrophy, Limb-Girdle, Type 1g; Lgmd1g 57
Dystrophy, Muscular, Limb-Girdle, Type 1g 39
Muscular Dystrophy Limb-Girdle Type 1g 12
Limb-Girdle Muscular Dystrophy 1g 72

Characteristics:

Orphanet epidemiological data:

58
hnrnpdl-related limb-girdle muscular dystrophy d3
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
slow progression
incomplete penetrance
two unrelated families have been reported (last curated august 2014)
adult onset (range 15 to 53 years)
mild disease course

Inheritance:
autosomal dominant


HPO:

31
muscular dystrophy, limb-girdle, autosomal dominant 3:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110306
OMIM® 57 609115
OMIM Phenotypic Series 57 PS603511
MeSH 44 D049288
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C1836765
Orphanet 58 ORPHA55596
MedGen 41 C1836765
UMLS 70 C1836765

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

UniProtKB/Swiss-Prot : 72 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 limb-girdle muscular dystrophy, type 1g, is related to limb-girdle muscular dystrophy type 1a and limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 is HNRNPDL (Heterogeneous Nuclear Ribonucleoprotein D Like). Affiliated tissues include heart, and 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® : 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) (Updated 20-May-2021)

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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
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 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy type 1a 30.0 MYOT CAV3
2 limb-girdle muscular dystrophy 29.9 TRAPPC11 MYOT CAV3
3 muscular dystrophy, limb-girdle, autosomal dominant 2 29.4 TNPO3 MYOT DNAJB6 CAV3
4 muscular dystrophy, limb-girdle, autosomal dominant 1 29.4 TNPO3 MYOT DNAJB6 CAV3
5 autosomal dominant limb-girdle muscular dystrophy 29.2 TNPO3 MYOT HNRNPDL DNAJB6 CAV3
6 autosomal recessive limb-girdle muscular dystrophy type 2q 28.9 TRAPPC11 TNPO3 MYOT LIMS2 DNAJB6
7 myopathy 28.8 TRAPPC11 TNPO3 MYOT HNRNPDL DNAJB6 DES
8 muscular dystrophy, limb-girdle, type 1h 28.5 TRAPPC11 TNPO3 MYOT LIMS2 DNAJB6 CAV3
9 muscular dystrophy 28.1 TRAPPC11 TNPO3 MYOT LIMS2 HNRNPDL DNAJB6
10 amyotrophic lateral sclerosis 1 10.2
11 coronary heart disease 1 10.2
12 respiratory failure 10.2
13 lateral sclerosis 10.2
14 metabolic myopathy 10.2
15 myopathy, myofibrillar, 2 10.1 MYOT DNAJB6
16 myopathy, myofibrillar, 3 10.1 MYOT DNAJB6
17 multisystem proteinopathy 10.1 HNRNPDL DNAJB6
18 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 MYOT CAV3
19 autosomal recessive limb-girdle muscular dystrophy type 2f 10.1 MYOT CAV3
20 myopathy, myofibrillar, 9, with early respiratory failure 10.1 MYOT DNAJB6
21 autosomal recessive limb-girdle muscular dystrophy type 2a 10.1 MYOT CAV3
22 scapuloperoneal syndrome, neurogenic, kaeser type 10.1 MYOT DES
23 autosomal dominant distal myopathy 10.1 MYOT DES
24 central core disease of muscle 10.1 MYOT DES
25 autosomal recessive limb-girdle muscular dystrophy type 2d 10.1 MYOT CAV3
26 myopathy, spheroid body 10.1 MYOT DES
27 muscular dystrophy-dystroglycanopathy , type c, 4 10.1 TRAPPC11 MYOT
28 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 MYOT CAV3
29 nonaka myopathy 10.0 MYOT DNAJB6
30 myopathy, myofibrillar, 1 9.9 MYOT DNAJB6 DES
31 batten-turner congenital myopathy 9.9 MYOT DES
32 muscular dystrophy, limb-girdle, autosomal recessive 17 9.9
33 limb-girdle muscular dystrophy type 1c 9.9
34 myofibrillar myopathy 9.9 MYOT DNAJB6 DES
35 isolated elevated serum creatine phosphokinase levels 9.9 MYOT CAV3
36 autosomal recessive limb-girdle muscular dystrophy type 2g 9.9 MYOT DES CAV3
37 miyoshi muscular dystrophy 9.8 MYOT DES CAV3
38 autosomal recessive limb-girdle muscular dystrophy type 2x 9.8 MYOT LIMS2 CAV3
39 walker-warburg syndrome 9.8 TRAPPC11 MYOT CAV3
40 glycogen storage disease ii 9.8 GANC CAV3
41 neuromuscular disease 9.7 MYOT DES CAV3
42 centronuclear myopathy 9.7 DES CAV3
43 muscular dystrophy, congenital, lmna-related 9.7 TRAPPC11 MYOT DNAJB6 CAV3
44 autosomal recessive limb-girdle muscular dystrophy 9.6 TRAPPC11 MYOT DES CAV3
45 congenital myasthenic syndrome 9.6 TRAPPC11 DES CAV3
46 muscular dystrophy-dystroglycanopathy , type c, 3 9.5 TRAPPC11 LIMS2 GANC
47 muscular dystrophy-dystroglycanopathy , type c, 14 9.2 TRAPPC11 LIMS2 GANC DES
48 muscular dystrophy-dystroglycanopathy , type c, 7 9.2 TRAPPC11 LIMS2 GANC DES
49 muscular dystrophy-dystroglycanopathy , type c, 9 9.1 TRAPPC11 MYOT LIMS2 GANC DES
50 autosomal recessive limb-girdle muscular dystrophy type 2w 8.8 TRAPPC11 TNPO3 MYOT LIMS2 GANC DES

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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 myopathy 31 HP:0003198
3 elevated serum creatine kinase 31 HP:0003236
4 limb-girdle muscular dystrophy 31 HP:0006785
5 rimmed vacuoles 31 HP:0003805
6 proximal upper limb amyotrophy 31 HP:0008948
7 proximal lower limb amyotrophy 31 HP:0008956
8 pelvic girdle muscle weakness 31 HP:0003749
9 hyporeflexia 31 HP:0001265
10 shoulder girdle muscle weakness 31 HP:0003547
11 decreased movement range in interphalangeal joints 31 HP:0006203
12 flexion limitation of toes 31 HP:0008116

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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
Skeletal Feet:
decreased movement range in interphalangeal joints
flexion limitation of toes, progressive, permanent

Laboratory Abnormalities:
increased serum creatine kinase

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

Head And Neck Eyes:
cataracts

Clinical features from OMIM®:

609115 (Updated 20-May-2021)

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 29 HNRNPDL

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

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3:

40
Heart

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

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

# Title Authors PMID Year
1
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 61 6 57
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. 61 57 6
15367920 2004
3
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 57
30055862 2018
4
Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient. 61
32904822 2020
5
Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain. 61
30604053 2019
6
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
7
Ins and outs of therapy in limb girdle muscular dystrophies. 61
17339125 2007

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

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3:

6 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HNRNPDL NM_001207000.1(HNRNPDL):c.1022-394G>C SNV Pathogenic 144074 rs587777669 GRCh37: 4:83347676-83347676
GRCh38: 4:82426523-82426523
2 HNRNPDL NM_031372.3(HNRNPDL):c.253C>T (p.Leu85Phe) SNV Uncertain significance 464385 rs760917145 GRCh37: 4:83350591-83350591
GRCh38: 4:82429438-82429438
3 HNRNPDL NM_031372.3(HNRNPDL):c.169G>A (p.Ala57Thr) SNV Uncertain significance 464384 rs775253636 GRCh37: 4:83350675-83350675
GRCh38: 4:82429522-82429522
4 HNRNPDL NM_031372.3(HNRNPDL):c.139C>T (p.Pro47Ser) SNV Uncertain significance 857933 GRCh37: 4:83350705-83350705
GRCh38: 4:82429552-82429552
5 HNRNPDL NM_031372.3(HNRNPDL):c.65T>C (p.Leu22Ser) SNV Uncertain significance 953944 GRCh37: 4:83350779-83350779
GRCh38: 4:82429626-82429626
6 HNRNPDL NM_031372.4(HNRNPDL):c.191A>G (p.Gln64Arg) SNV Uncertain significance 1051825 GRCh37: 4:83350653-83350653
GRCh38: 4:82429500-82429500
7 HNRNPDL NM_031372.4(HNRNPDL):c.317G>C (p.Arg106Pro) SNV Uncertain significance 1052546 GRCh37: 4:83350527-83350527
GRCh38: 4:82429374-82429374
8 HNRNPDL NM_031372.4(HNRNPDL):c.176G>T (p.Arg59Leu) SNV Uncertain significance 1052812 GRCh37: 4:83350668-83350668
GRCh38: 4:82429515-82429515
9 HNRNPDL NM_031372.4(HNRNPDL):c.444-10_444-9del Deletion Uncertain significance 1059508 GRCh37: 4:83349608-83349609
GRCh38: 4:82428455-82428456
10 HNRNPDL NM_031372.4(HNRNPDL):c.793C>G (p.Pro265Ala) SNV Uncertain significance 1062117 GRCh37: 4:83348699-83348699
GRCh38: 4:82427546-82427546
11 HNRNPDL NM_031372.4(HNRNPDL):c.255_256del (p.Phe86fs) Microsatellite Uncertain significance 1062242 GRCh37: 4:83350588-83350589
GRCh38: 4:82429435-82429436
12 HNRNPDL NM_031372.4(HNRNPDL):c.73C>G (p.Arg25Gly) SNV Uncertain significance 1063451 GRCh37: 4:83350771-83350771
GRCh38: 4:82429618-82429618
13 HNRNPDL NM_031372.4(HNRNPDL):c.397G>A (p.Ala133Thr) SNV Uncertain significance 1063649 GRCh37: 4:83350447-83350447
GRCh38: 4:82429294-82429294
14 HNRNPDL NM_031372.3(HNRNPDL):c.1132G>A (p.Asp378Asn) SNV Uncertain significance 144073 rs587777669 GRCh37: 4:83347676-83347676
GRCh38: 4:82426523-82426523
15 HNRNPDL NM_031372.3(HNRNPDL):c.766T>A (p.Phe256Ile) SNV Uncertain significance 952962 GRCh37: 4:83349179-83349179
GRCh38: 4:82428026-82428026
16 HNRNPDL NM_031372.3(HNRNPDL):c.314C>T (p.Thr105Ile) SNV Uncertain significance 464386 rs763175161 GRCh37: 4:83350530-83350530
GRCh38: 4:82429377-82429377
17 HNRNPDL NM_031372.3(HNRNPDL):c.110A>C (p.Gln37Pro) SNV Uncertain significance 464378 rs911762606 GRCh37: 4:83350734-83350734
GRCh38: 4:82429581-82429581
18 HNRNPDL NM_031372.3(HNRNPDL):c.332A>C (p.His111Pro) SNV Uncertain significance 533017 rs1169938690 GRCh37: 4:83350512-83350512
GRCh38: 4:82429359-82429359
19 HNRNPDL NM_031372.3(HNRNPDL):c.101_109del (p.Pro34_Arg36del) Deletion Uncertain significance 572964 rs759911561 GRCh37: 4:83350735-83350743
GRCh38: 4:82429582-82429590
20 HNRNPDL NM_031372.3(HNRNPDL):c.188C>T (p.Ala63Val) SNV Uncertain significance 838822 GRCh37: 4:83350656-83350656
GRCh38: 4:82429503-82429503
21 HNRNPDL NM_031372.3(HNRNPDL):c.281C>G (p.Ser94Cys) SNV Uncertain significance 854875 GRCh37: 4:83350563-83350563
GRCh38: 4:82429410-82429410
22 HNRNPDL NM_031372.3(HNRNPDL):c.324_341del (p.Arg109_Ala114del) Deletion Uncertain significance 938978 GRCh37: 4:83350503-83350520
GRCh38: 4:82429350-82429367
23 HNRNPDL NM_031372.4(HNRNPDL):c.128C>T (p.Pro43Leu) SNV Uncertain significance 999866 GRCh37: 4:83350716-83350716
GRCh38: 4:82429563-82429563
24 HNRNPDL NM_031372.4(HNRNPDL):c.86A>G (p.His29Arg) SNV Uncertain significance 1009487 GRCh37: 4:83350758-83350758
GRCh38: 4:82429605-82429605
25 HNRNPDL NM_031372.3(HNRNPDL):c.42G>C (p.Leu14Phe) SNV Uncertain significance 854889 GRCh37: 4:83350802-83350802
GRCh38: 4:82429649-82429649
26 HNRNPDL NM_001207000.1(HNRNPDL):c.1022-371G>T SNV Uncertain significance 957137 GRCh37: 4:83347653-83347653
GRCh38: 4:82426500-82426500
27 HNRNPDL NM_031372.4(HNRNPDL):c.274T>C (p.Ser92Pro) SNV Uncertain significance 1016195 GRCh37: 4:83350570-83350570
GRCh38: 4:82429417-82429417
28 HNRNPDL NM_031372.4(HNRNPDL):c.303TGC[3] (p.Ala104dup) Microsatellite Uncertain significance 1020727 GRCh37: 4:83350535-83350536
GRCh38: 4:82429382-82429383
29 HNRNPDL NM_031372.4(HNRNPDL):c.698A>G (p.Lys233Arg) SNV Uncertain significance 1020822 GRCh37: 4:83349247-83349247
GRCh38: 4:82428094-82428094
30 HNRNPDL NM_031372.4(HNRNPDL):c.92GGCCGC[3] (p.31RP[3]) Microsatellite Uncertain significance 1026627 GRCh37: 4:83350740-83350741
GRCh38: 4:82429587-82429588
31 HNRNPDL NM_001207000.1(HNRNPDL):c.1022-399G>A SNV Uncertain significance 648751 rs1207358630 GRCh37: 4:83347681-83347681
GRCh38: 4:82426528-82426528
32 HNRNPDL NM_031372.3(HNRNPDL):c.277A>G (p.Ser93Gly) SNV Uncertain significance 863660 GRCh37: 4:83350567-83350567
GRCh38: 4:82429414-82429414
33 HNRNPDL NM_031372.4(HNRNPDL):c.70T>G (p.Ser24Ala) SNV Uncertain significance 1034574 GRCh37: 4:83350774-83350774
GRCh38: 4:82429621-82429621
34 HNRNPDL NM_031372.4(HNRNPDL):c.61A>G (p.Thr21Ala) SNV Uncertain significance 1047059 GRCh37: 4:83350783-83350783
GRCh38: 4:82429630-82429630
35 HNRNPDL NM_031372.3(HNRNPDL):c.113T>C (p.Leu38Pro) SNV Uncertain significance 464379 rs373042980 GRCh37: 4:83350731-83350731
GRCh38: 4:82429578-82429578
36 HNRNPDL NM_031372.3(HNRNPDL):c.248C>T (p.Pro83Leu) SNV Uncertain significance 533022 rs201774571 GRCh37: 4:83350596-83350596
GRCh38: 4:82429443-82429443
37 HNRNPDL NM_031372.3(HNRNPDL):c.1021+6A>G SNV Uncertain significance 654247 rs369035855 GRCh37: 4:83348337-83348337
GRCh38: 4:82427184-82427184
38 HNRNPDL NM_031372.3(HNRNPDL):c.245G>T (p.Arg82Leu) SNV Uncertain significance 660483 rs200595389 GRCh37: 4:83350599-83350599
GRCh38: 4:82429446-82429446
39 HNRNPDL NM_001207000.1(HNRNPDL):c.948_953GCAACA[1] (p.Gln320_Gln321del) Microsatellite Uncertain significance 464394 rs763843229 GRCh37: 4:83348405-83348410
GRCh38: 4:82427252-82427257
40 HNRNPDL NM_031372.3(HNRNPDL):c.107G>T (p.Arg36Leu) SNV Uncertain significance 464377 rs1289857424 GRCh37: 4:83350737-83350737
GRCh38: 4:82429584-82429584
41 HNRNPDL NM_031372.3(HNRNPDL):c.1012C>T (p.Arg338Cys) SNV Uncertain significance 522993 rs1553900864 GRCh37: 4:83348352-83348352
GRCh38: 4:82427199-82427199
42 HNRNPDL NM_031372.3(HNRNPDL):c.58G>C (p.Ala20Pro) SNV Uncertain significance 533018 rs1353089013 GRCh37: 4:83350786-83350786
GRCh38: 4:82429633-82429633
43 HNRNPDL NM_031372.3(HNRNPDL):c.316C>A (p.Arg106=) SNV Uncertain significance 533019 rs140163739 GRCh37: 4:83350528-83350528
GRCh38: 4:82429375-82429375
44 HNRNPDL NM_031372.3(HNRNPDL):c.10C>T (p.Pro4Ser) SNV Uncertain significance 533020 rs1269836189 GRCh37: 4:83350834-83350834
GRCh38: 4:82429681-82429681
45 HNRNPDL NM_031372.3(HNRNPDL):c.35C>T (p.Pro12Leu) SNV Uncertain significance 533021 rs1362920184 GRCh37: 4:83350809-83350809
GRCh38: 4:82429656-82429656
46 HNRNPDL NM_031372.3(HNRNPDL):c.874G>A (p.Glu292Lys) SNV Uncertain significance 533023 rs1553900899 GRCh37: 4:83348618-83348618
GRCh38: 4:82427465-82427465
47 HNRNPDL NM_031372.3(HNRNPDL):c.550G>A (p.Val184Ile) SNV Uncertain significance 533024 rs1553901009 GRCh37: 4:83349493-83349493
GRCh38: 4:82428340-82428340
48 HNRNPDL NM_031372.3(HNRNPDL):c.280T>G (p.Ser94Ala) SNV Uncertain significance 565463 rs762023929 GRCh37: 4:83350564-83350564
GRCh38: 4:82429411-82429411
49 HNRNPDL NM_031372.3(HNRNPDL):c.155A>T (p.Gln52Leu) SNV Uncertain significance 569226 rs763638263 GRCh37: 4:83350689-83350689
GRCh38: 4:82429536-82429536
50 HNRNPDL NM_031372.3(HNRNPDL):c.908G>T (p.Cys303Phe) SNV Uncertain significance 640178 rs1221914563 GRCh37: 4:83348456-83348456
GRCh38: 4:82427303-82427303

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

72
# Symbol AA change Variation ID SNP ID
1 HNRNPDL p.Asp378His VAR_072567 rs587777669
2 HNRNPDL p.Asp378Asn VAR_072568 rs587777669

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 neuromuscular junction GO:0031594 9.26 DES CAV3
2 intercalated disc GO:0014704 9.16 DES CAV3
3 sarcolemma GO:0042383 9.13 MYOT DES CAV3
4 Z disc GO:0030018 8.92 MYOT DNAJB6 DES CAV3

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

# Name GO ID Score Top Affiliating Genes
1 regulation of heart contraction GO:0008016 9.16 DES CAV3
2 intermediate filament organization GO:0045109 8.96 DNAJB6 DES
3 muscle contraction GO:0006936 8.8 MYOT DES CAV3

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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