LGMDD1
MCID: MSC175
MIFTS: 47

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 (LGMDD1)

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 56 73
Lgmd1e 56 52 58 73
Lgmd1d 12 52 58 73
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 12 52 58
Muscular Dystrophy, Limb-Girdle, Type 1e 56 73 13
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d 52 58
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1 12 15
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 52 58
Limb-Girdle Muscular Dystrophy, Type 1e 29 6
Limb-Girdle Muscular Dystrophy Type 1d 52 73
Lgmdd1 56 73
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly; Lgmd1d, Formerly 56
Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1 39
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly 56
Muscular Dystrophy, Limb-Girdle, Type 1e; Lgmd1e 56
Dystrophy, Muscular, Limb-Girdle, Type 1e 39
Muscular Dystrophy, Limb-Girdle, Type 1d 73
Muscular Dystrophy Limb-Girdle Type 1d 12
Muscular Dystrophy Limb-Girdle Type 1e 12
Limb-Girdle Muscular Dystrophy Type 1e 52
Limb-Girdle Muscular Dystrophy 1e 73
Lgmd1d, Formerly 56

Characteristics:

Orphanet epidemiological data:

58
dnajb6-related limb-girdle muscular dystrophy d1
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;
autosomal dominant limb-girdle muscular dystrophy type 1e
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
variable age at onset (range childhood to adult)
most patients become wheelchair-bound after 20 to 30 years


HPO:

31
muscular dystrophy, limb-girdle, autosomal dominant 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110305
OMIM 56 603511
OMIM Phenotypic Series 56 PS603511
MeSH 43 D049288
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C3148763 C3501858

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

OMIM : 56 Autosomal dominant limb-girdle muscular dystrophy is characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. Most patients present with proximal muscle weakness that progresses to distal involvement, but some can present with distal impairment. The severity is variable: patients with a more severe phenotype can lose ambulation after several decades and have facial weakness with bulbar and respiratory involvement. Muscle biopsy shows dystrophic changes with protein aggregates, myofibrillar degeneration, and rimmed vacuoles (summary by Ruggieri et al., 2015). (603511)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1, also known as lgmd1e, is related to muscular dystrophy, limb-girdle, type 1h and myopathy, myofibrillar, 1. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 is DNAJB6 (DnaJ Heat Shock Protein Family (Hsp40) Member B6), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are generalized muscle weakness and dysarthria

Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.

UniProtKB/Swiss-Prot : 73 Muscular dystrophy, limb-girdle, autosomal dominant 1: An autosomal dominant myopathy characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

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 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 1h 32.0 TNPO3 MYOT DNAJB6 CAV3
2 myopathy, myofibrillar, 1 31.9 TTN MYOT DES BAG3
3 muscular dystrophy, limb-girdle, autosomal dominant 3 31.7 TNPO3 MYOT DNAJB6 CAV3 ANO5
4 muscular dystrophy, limb-girdle, autosomal dominant 2 28.9 TNPO3 TCAP MYOT LMNA FKRP DYSF
5 autosomal dominant limb-girdle muscular dystrophy 28.7 TNPO3 RNF32 MYOT LMNA DNAJB6 DNAJB1
6 miyoshi muscular dystrophy 27.4 TTN TCAP MYOT FKRP DYSF DES
7 limb-girdle muscular dystrophy 27.1 TTN TNPO3 TCAP MYOT LMNA FKRP
8 myofibrillar myopathy 27.1 TTN TCAP MYOT LMNA HSPB8 DYSF
9 myopathy 26.8 TTN TCAP MYOT LMNA FKRP DYSF
10 muscular dystrophy 26.3 TTN TNPO3 TCAP MYOT LMNA HSPB8
11 autosomal dominant distal myopathy 10.5 MYOT DES
12 dysphagia 10.4
13 myopathy, myofibrillar, 2 10.3 MYOT DNAJB6 BAG3
14 myopathy, myofibrillar, 6 10.3 MYOT BAG3
15 myopathy, myofibrillar, 4 10.3 MYOT BAG3
16 autosomal recessive limb-girdle muscular dystrophy type 2w 10.2 TNPO3 MYOT ANO5
17 muscular dystrophy-dystroglycanopathy , type c, 14 10.2 TNPO3 DES ANO5
18 myopathy, spheroid body 10.2 TCAP MYOT DES
19 central core disease of muscle 10.2 MYOT DES
20 proximal spinal muscular atrophy 10.2 LMNA DES
21 spinal and bulbar muscular atrophy, x-linked 1 10.2 HSPB8 DNAJB1 CRYAA
22 cardioneuromyopathy with hyaline masses and nemaline rods 10.2 TTN DES
23 isolated elevated serum creatine phosphokinase levels 10.1 TCAP CAV3 ANO5
24 creatine phosphokinase, elevated serum 10.1 TCAP CAV3 ANO5
25 charcot-marie-tooth disease, axonal, type 2l 10.1 HSPB8 CRYAA
26 muscular dystrophy-dystroglycanopathy , type c, 9 10.1 MYOT DYSF ANO5
27 dysferlinopathy 10.0 DYSF CAPN3
28 myopathy, myofibrillar, 5 10.0 TTN MYOT BAG3
29 miyoshi muscular dystrophy 3 9.9 DYSF CAPN3 ANO5
30 autosomal recessive limb-girdle muscular dystrophy type 2x 9.9 MYOT DYSF CAV3 ANO5
31 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.9 TTN LMNA
32 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.9 TTN LMNA
33 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.9 TTN LMNA
34 paresthesia 9.9 FKRP CAPN3
35 cardiomyopathy, dilated, 3b 9.8 DYSF CAV3
36 muscular dystrophy-dystroglycanopathy , type c, 1 9.8 MYOT FKRP ANO5
37 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 FKRP ANO5
38 polyglucosan body myopathy 1 with or without immunodeficiency 9.8 FKRP CAPN3
39 cardiomyopathy, dilated, 1b 9.8 TTN LMNA BAG3
40 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 FKRP ANO5
41 atrioventricular block 9.8 TTN LMNA DES
42 cardiomyopathy, dilated, 1e 9.8 TTN LMNA DES
43 charcot-marie-tooth disease, axonal, type 2e 9.7 LMNA HSPB8 BAG3 ANO5
44 myopathy, congenital 9.7 TTN DYSF DES
45 familial isolated dilated cardiomyopathy 9.7 TTN TCAP DES BAG3
46 restrictive cardiomyopathy 9.7 TTN LMNA DES
47 rippling muscle disease 2 9.6 FKRP DYSF CAV3
48 centronuclear myopathy 9.6 TTN DYSF DES CAV3
49 reducing body myopathy 9.6 TTN TCAP MYOT DES BAG3
50 peripheral nervous system disease 9.5 TTN LMNA HSPB8 CRYAA

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



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

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

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003324
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
4 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
5 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
6 rimmed vacuoles 58 31 occasional (7.5%) Occasional (29-5%) HP:0003805
7 myofibrillar myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003715
8 loss of ability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0006957
9 fatty replacement of skeletal muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0012548
10 skeletal muscle fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0030951
11 facial palsy 31 occasional (7.5%) HP:0010628
12 flexion contracture 31 occasional (7.5%) HP:0001371
13 dyspnea 31 occasional (7.5%) HP:0002094
14 bulbar palsy 31 occasional (7.5%) HP:0001283
15 percussion myotonia 58 31 very rare (1%) Very rare (<4-1%) HP:0010548
16 waddling gait 31 HP:0002515
17 pelvic girdle muscle weakness 31 HP:0003749
18 abnormality of muscle fibers 58 Very rare (<4-1%)
19 muscular dystrophy 31 HP:0003560
20 gowers sign 31 HP:0003391
21 muscle fiber splitting 31 HP:0003555
22 shoulder girdle muscle weakness 31 HP:0003547
23 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
waddling gait
rimmed vacuoles
gowers sign
difficulty climbing stairs
shoulder girdle muscle weakness
more
Abdomen Gastrointestinal:
dysphagia (less common)

Head And Neck Face:
facial weakness (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase

Skeletal:
contractures (in some patients)

Respiratory:
respiratory difficulties, later onset (in some patients)
dyspnea (in some patients)

Clinical features from OMIM:

603511

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 BAG3 CAPN3 CAV3 DES FKRP HSPB8
2 homeostasis/metabolism MP:0005376 9.73 ANO5 BAG3 CAPN3 CAV3 DES DYSF
3 muscle MP:0005369 9.36 ANO5 BAG3 CAPN3 CAV3 DES DYSF

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

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

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

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

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1e 29 DNAJB6

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

40
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

(show all 25)
# Title Authors PMID Year
1
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy. 56 6
26205529 2015
2
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy. 56 6
24594375 2014
3
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. 56 6
22334415 2012
4
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. 56 6
22366786 2012
5
Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus. 56 6
21376592 2011
6
The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy. 56 6
20682716 2010
7
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13. 56 6
10489050 1999
8
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. 56 6
9973293 1999
9
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 56
30055862 2018
10
Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D. 56
26362252 2015
11
Ins and outs of therapy in limb girdle muscular dystrophies. 56
17339125 2007
12
The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002. 56
12467737 2003
13
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3. 56
11039585 2000
14
Limb-Girdle Muscular Dystrophy Overview 6
20301582 2000
15
Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. 56
8533766 1995
16
Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. 56
1598902 1992
17
Adult-onset autosomal dominant limb-girdle muscular dystrophy. 56
3752967 1986
18
Familial muscular dystrophy of late onset. 56
5551698 1971
19
Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly. Clinical, pathologic and linkage considerations. 56
5780363 1969
20
Hereditary myopathy limited to females. 56
6053567 1967
21
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 61
28403181 2017
22
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 61
24647604 2014
23
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
24
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. 61
22275259 2012
25
[Limb girdle muscular dystrophies]. 61
15316618 2004

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

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

6 (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAJB6 NM_058246.4(DNAJB6):c.298T>G (p.Phe100Val)SNV Pathogenic 225174 rs869320700 7:157160129-157160129 7:157367435-157367435
2 DNAJB6 NM_058246.4(DNAJB6):c.271T>A (p.Phe91Ile)SNV Pathogenic 225175 rs869320701 7:157160102-157160102 7:157367408-157367408
3 DNAJB6 NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu)SNV Pathogenic 225176 rs759982570 7:157160104-157160104 7:157367410-157367410
4 DNAJB6 NM_058246.4(DNAJB6):c.346+5G>ASNV Pathogenic 225177 rs869320702 7:157160182-157160182 7:157367488-157367488
5 DNAJB6 NM_058246.4(DNAJB6):c.277T>C (p.Phe93Leu)SNV Pathogenic 30904 rs387907046 7:157160108-157160108 7:157367414-157367414
6 DNAJB6 NM_058246.4(DNAJB6):c.287C>G (p.Pro96Arg)SNV Pathogenic 30905 rs387907047 7:157160118-157160118 7:157367424-157367424
7 DNAJB6 NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)SNV Pathogenic 31529 rs149278319 7:157160110-157160110 7:157367416-157367416
8 DNAJB6 NM_058246.4(DNAJB6):c.279C>A (p.Phe93Leu)SNV Pathogenic 31530 rs149278319 7:157160110-157160110 7:157367416-157367416
9 DNAJB6 NM_058246.4(DNAJB6):c.265T>A (p.Phe89Ile)SNV Pathogenic 31531 rs387907150 7:157160096-157160096 7:157367402-157367402
10 DNAJB6 NM_058246.4(DNAJB6):c.271T>G (p.Phe91Val)SNV Likely pathogenic 498056 rs869320701 7:157160102-157160102 7:157367408-157367408
11 DNAJB6 NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr)SNV Conflicting interpretations of pathogenicity 594710 rs375911119 7:157208785-157208785 7:157416091-157416091
12 DNAJB6 NM_058246.4(DNAJB6):c.48C>T (p.Pro16=)SNV Conflicting interpretations of pathogenicity 282322 rs150583876 7:157151314-157151314 7:157358620-157358620
13 DNAJB6 NM_058246.4(DNAJB6):c.602G>A (p.Arg201Lys)SNV Conflicting interpretations of pathogenicity 286265 rs373070679 7:157177684-157177684 7:157384990-157384990
14 DNAJB6 NM_058246.4(DNAJB6):c.815C>T (p.Ala272Val)SNV Conflicting interpretations of pathogenicity 379481 rs978425267 7:157202612-157202612 7:157409918-157409918
15 DNAJB6 NM_058246.4(DNAJB6):c.620+6G>TSNV Uncertain significance 471341 rs755805131 7:157177708-157177708 7:157385014-157385014
16 DNAJB6 NM_058246.4(DNAJB6):c.253A>G (p.Ser85Gly)SNV Uncertain significance 471340 rs1554458350 7:157160084-157160084 7:157367390-157367390
17 DNAJB6 NM_058246.4(DNAJB6):c.571A>G (p.Ile191Val)SNV Uncertain significance 286445 rs886043396 7:157177653-157177653 7:157384959-157384959
18 DNAJB6 NM_058246.4(DNAJB6):c.857C>T (p.Pro286Leu)SNV Uncertain significance 290523 rs886044476 7:157202654-157202654 7:157409960-157409960
19 DNAJB6 NM_058246.4(DNAJB6):c.799T>C (p.Ser267Pro)SNV Uncertain significance 538665 rs971868513 7:157202596-157202596 7:157409902-157409902
20 DNAJB6 NM_058246.4(DNAJB6):c.65+2T>CSNV Uncertain significance 538666 rs1554455505 7:157151333-157151333 7:157358639-157358639
21 DNAJB6 NM_058246.4(DNAJB6):c.961_972dup (p.Ser321_Gly324dup)duplication Uncertain significance 538668 rs1554471187 7:157208771-157208772 7:157416077-157416078
22 DNAJB6 NM_058246.4(DNAJB6):c.69T>A (p.Tyr23Ter)SNV Uncertain significance 565410 rs759652351 7:157155858-157155858 7:157363164-157363164
23 DNAJB6 NM_058246.4(DNAJB6):c.470T>A (p.Phe157Tyr)SNV Uncertain significance 571480 rs1563137134 7:157175063-157175063 7:157382369-157382369
24 DNAJB6 NM_058246.4(DNAJB6):c.875G>A (p.Trp292Ter)SNV Uncertain significance 565789 rs1370731126 7:157202672-157202672 7:157409978-157409978
25 DNAJB6 NM_058246.4(DNAJB6):c.66-5C>ASNV Uncertain significance 569249 rs1563122846 7:157155850-157155850 7:157363156-157363156
26 DNAJB6 NM_058246.4(DNAJB6):c.947C>G (p.Ser316Trp)SNV Uncertain significance 282540 rs371304535 7:157208758-157208758 7:157416064-157416064
27 DNAJB6 NM_058246.4(DNAJB6):c.230G>T (p.Gly77Val)SNV Uncertain significance 282541 rs372973038 7:157159250-157159250 7:157366556-157366556
28 DNAJB6 NM_058246.4(DNAJB6):c.608T>C (p.Ile203Thr)SNV Uncertain significance 635043 rs781071853 7:157177690-157177690 7:157384996-157384996
29 DNAJB6 NM_058246.4(DNAJB6):c.133A>G (p.Lys45Glu)SNV Uncertain significance 651360 7:157155922-157155922 7:157363228-157363228
30 DNAJB6 NM_058246.4(DNAJB6):c.248T>C (p.Phe83Ser)SNV Uncertain significance 643265 7:157160079-157160079 7:157367385-157367385
31 DNAJB6 NM_058246.4(DNAJB6):c.304G>A (p.Glu102Lys)SNV Uncertain significance 662068 7:157160135-157160135 7:157367441-157367441
32 DNAJB6 NM_058246.4(DNAJB6):c.404G>A (p.Arg135Gln)SNV Uncertain significance 653257 7:157174997-157174997 7:157382303-157382303
33 DNAJB6 NM_058246.4(DNAJB6):c.512G>T (p.Gly171Val)SNV Uncertain significance 638968 7:157177594-157177594 7:157384900-157384900
34 DNAJB6 NM_058246.4(DNAJB6):c.791G>A (p.Arg264Gln)SNV Uncertain significance 655798 7:157202588-157202588 7:157409894-157409894
35 DNAJB6 NM_058246.4(DNAJB6):c.869G>C (p.Gly290Ala)SNV Uncertain significance 646310 7:157202666-157202666 7:157409972-157409972
36 DNAJB6 NM_058246.4(DNAJB6):c.688A>G (p.Asn230Asp)SNV Uncertain significance 802386 7:157178302-157178302 7:157385608-157385608
37 DNAJB6 NM_058246.4(DNAJB6):c.801G>T (p.Ser267=)SNV Likely benign 538669 rs1252030610 7:157202598-157202598 7:157409904-157409904

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1:

73
# Symbol AA change Variation ID SNP ID
1 DNAJB6 p.Phe89Ile VAR_067833 rs387907150
2 DNAJB6 p.Phe93Leu VAR_067834 rs387907046
3 DNAJB6 p.Pro96Arg VAR_067835 rs387907047

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

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

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.21 UBE3C TTN TNPO3 MLF1 LMNA HSPB8
2 cytosol GO:0005829 10.18 TTN TCAP LMNA HSPB8 FKRP DNAJC13
3 cytoplasm GO:0005737 10.13 TTN TNPO3 TCAP RNF32 MYOT MLF1
4 I band GO:0031674 9.43 TTN TCAP
5 sarcolemma GO:0042383 9.35 MYOT FKRP DYSF DES CAV3
6 T-tubule GO:0030315 9.33 DYSF CAV3 CAPN3
7 chaperone complex GO:0101031 9.32 HSPB8 BAG3
8 Z disc GO:0030018 9.23 TTN TCAP MYOT DNAJB6 DES CAV3

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.72 TTN CAPN3 BAG3
2 sarcomere organization GO:0045214 9.61 TTN TCAP CAPN3
3 intermediate filament organization GO:0045109 9.6 DNAJB6 DES
4 cardiac myofibril assembly GO:0055003 9.59 TTN TCAP
5 cardiac muscle tissue morphogenesis GO:0055008 9.58 TTN TCAP
6 cardiac muscle fiber development GO:0048739 9.58 TTN TCAP
7 muscle filament sliding GO:0030049 9.58 TTN TCAP DES
8 plasma membrane repair GO:0001778 9.57 DYSF CAV3
9 cardiac muscle hypertrophy GO:0003300 9.56 TTN TCAP
10 negative regulation of inclusion body assembly GO:0090084 9.54 DNAJB6 DNAJB1
11 regulation of calcium ion import GO:0090279 9.52 DYSF CAV3
12 skeletal muscle thin filament assembly GO:0030240 9.51 TTN TCAP
13 T-tubule organization GO:0033292 9.49 DYSF CAV3
14 skeletal muscle myosin thick filament assembly GO:0030241 9.48 TTN TCAP
15 negative regulation of transcription from RNA polymerase II promoter in response to stress GO:0097201 9.46 DNAJB1 BAG3
16 regulation of cellular response to heat GO:1900034 9.46 HSPB8 DNAJB6 DNAJB1 BAG3
17 muscle cell cellular homeostasis GO:0046716 9.43 CAV3 CAPN3 BAG3
18 positive regulation of aggrephagy GO:1905337 9.37 HSPB8 BAG3
19 muscle contraction GO:0006936 9.35 TTN MYOT DYSF DES CAV3
20 sarcomerogenesis GO:0048769 9.32 TTN TCAP
21 detection of muscle stretch GO:0035995 8.8 TTN TCAP CAV3

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 UBE3C TTN TNPO3 TCAP RNF32 MYOT
2 unfolded protein binding GO:0051082 9.5 DNAJB6 DNAJB1 CRYAA
3 chaperone binding GO:0051087 9.43 DNAJB6 DNAJB1 BAG3
4 ATPase activator activity GO:0001671 9.37 DNAJB6 DNAJB1
5 titin binding GO:0031432 9.16 TCAP CAPN3
6 structural constituent of muscle GO:0008307 8.92 TTN TCAP MYOT CAPN3

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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