LGMD3
MCID: ATS298
MIFTS: 45

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b (LGMD3)

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

Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 12 29 6 15
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 12
Muscular Dystrophy, Limb-Girdle, Type 2b 70
Limb-Girdle Muscular Dystrophy Type 3 12
Lgmd2b 12
Lgmd3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110276
ICD10 32 G71.0
UMLS 70 C1850889

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b, also known as limb-girdle muscular dystrophy due to dysferlin deficiency, is related to muscular dystrophy, limb-girdle, autosomal dominant 3 and dysferlinopathy. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b is DYSF (Dysferlin), and among its related pathways/superpathways are Cardiac conduction and Allograft rejection. The drugs Deflazacort and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and monocytes, and related phenotypes are behavior/neurological and cardiovascular system

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

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 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal dominant 3 32.8 MYOT CAV3
2 dysferlinopathy 31.7 SGCA OTOF MYOF DYSF CAPN3
3 muscular dystrophy, limb-girdle, autosomal recessive 2 31.0 TCAP SGCG SGCD SGCB SGCA MYOT
4 progressive muscular dystrophy 30.3 SGCA DMD
5 limb-girdle muscular dystrophy type 1c 30.3 FKRP DYSF CAV3
6 atrial standstill 1 30.1 MYOT LMNA FKRP DMD
7 limb-girdle muscular dystrophy 29.9 TCAP SGCG SGCD SGCB SGCA MYOT
8 muscular dystrophy 28.9 TRIM72 TCAP SGCG SGCD SGCB SGCA
9 myopathy 28.7 TCAP SGCG SGCD SGCB SGCA OTOF
10 autosomal recessive limb-girdle muscular dystrophy 27.5 TRIM72 TCAP SGCG SGCD SGCB SGCA
11 paresthesia 10.4 FKRP CAPN3
12 foot drop 10.4 MYOT DYSF
13 limb-girdle muscular dystrophy type 1b 10.4 LMNA CAV3
14 localized lipodystrophy 10.4 DYSF DMD
15 muscular dystrophy, limb-girdle, type 1h 10.4 MYOT CAV3
16 miyoshi muscular dystrophy 1 10.3
17 miyoshi muscular dystrophy 3 10.3 DYSF CAPN3 ANO5
18 autosomal dominant distal myopathy 10.3 MYOT DMD
19 congenital muscular dystrophy-dystroglycanopathy type a5 10.3 FKRP DAG1
20 congenital muscular dystrophy-dystroglycanopathy type a1 10.3 FKRP DAG1
21 mcleod syndrome 10.3 SGCA DMD
22 muscular dystrophy, congenital, 1b 10.3 FKRP DAG1
23 myopathy, myofibrillar, 9, with early respiratory failure 10.3 TCAP MYOT CAPN3
24 polyglucosan body myopathy 1 with or without immunodeficiency 10.3 FKRP DMD CAPN3
25 qualitative or quantitative defects of dysferlin 10.3
26 autosomal recessive limb-girdle muscular dystrophy type 2w 10.3 SGCB MYOT ANO5
27 muscular dystrophy-dystroglycanopathy , type c, 14 10.3 DAG1 ANO5
28 myopathy, x-linked, with postural muscle atrophy 10.2 MYOT LMNA
29 myopathy, spheroid body 10.2 TCAP MYOT
30 muscular dystrophy-dystroglycanopathy , type b, 6 10.2 FKRP DAG1
31 muscular dystrophy, limb-girdle, autosomal recessive 8 10.2 TCAP FKRP DYSF CAPN3
32 muscular dystrophy, limb-girdle, autosomal dominant 1 10.2 MYOT DYSF CAV3 CAPN3
33 cardiomyopathy, dilated, 1d 10.2 FKRP DAG1
34 autosomal recessive limb-girdle muscular dystrophy type 2x 10.2 MYOT DYSF CAV3 ANO5
35 myopathy, myofibrillar, 1 10.2 MYOT LMNA DMD CAPN3
36 muscular dystrophy-dystroglycanopathy , type c, 9 10.2 SGCB MYOT DAG1
37 cobblestone lissencephaly 10.2 FKRP DMD DAG1
38 centronuclear myopathy 10.2 DYSF DMD CAV3
39 autosomal recessive limb-girdle muscular dystrophy type 2q 10.2 TCAP SGCA MYOT ANO5
40 congenital fiber-type disproportion 10.2 MYOT LMNA DYSF DMD
41 muscle eye brain disease 10.2 FKRP DMD DAG1
42 muscular dystrophy-dystroglycanopathy , type c, 2 10.2 FKRP DAG1 CAPN3 ANO5
43 rippling muscle disease 2 10.2 DYSF CAV3
44 muscular dystrophy-dystroglycanopathy , type c, 3 10.1 SGCG FKRP DAG1 ANO5
45 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.1 LMNA FKRP DYSF DMD CAPN3
46 congenital muscular dystrophy-dystroglycanopathy type a 10.1 SGCA FKRP DMD DAG1
47 muscular dystrophy-dystroglycanopathy , type a, 4 10.1 SGCA FKRP DMD DAG1
48 left ventricular noncompaction 10.1 TCAP MYOT LMNA DMD
49 autosomal dominant limb-girdle muscular dystrophy 10.1 TCAP MYOT LMNA CAV3 CAPN3
50 x-linked monogenic disease 10.1 SGCA DMD DAG1

Graphical network of the top 20 diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:



Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

MGI Mouse Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 AHNAK ANO5 DAG1 DMD DYSF FKRP
2 cardiovascular system MP:0005385 10.07 ANO5 CAPN3 CAV3 DAG1 DMD FKRP
3 homeostasis/metabolism MP:0005376 9.97 AHNAK ANO5 CAPN3 CAV3 DAG1 DMD
4 muscle MP:0005369 9.83 ANO5 CAPN3 CAV3 DAG1 DMD DYSF
5 normal MP:0002873 9.23 AHNAK CAPN3 DAG1 DMD FKRP LMNA

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Drugs for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deflazacort Approved, Investigational Phase 2, Phase 3 14484-47-0
2 Immunosuppressive Agents Phase 2, Phase 3
3 Immunologic Factors Phase 2, Phase 3
4 Anti-Inflammatory Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo

Search NIH Clinical Center for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Genetic tests related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

# Genetic test Affiliating Genes
1 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 29 DYSF

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

MalaCards organs/tissues related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

40
Skeletal Muscle, Monocytes

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. 61 6
28104817 2017
2
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. 6
30564623 2018
3
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 6
27363342 2017
4
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 6
28403181 2017
5
Dysferlin mutations and mitochondrial dysfunction. 6
27666772 2016
6
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. 6
27647186 2016
7
Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair. 6
27641898 2016
8
The Clinical Outcome Study for dysferlinopathy: An international multicenter study. 6
27602406 2016
9
Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle. 6
26000923 2016
10
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 6
27290639 2016
11
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
12
The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes. 6
27229680 2016
13
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience. 6
26060040 2016
14
Respiratory and cardiac function in japanese patients with dysferlinopathy. 6
26088049 2016
15
Pathogenic mutation R959W alters recognition dynamics of dysferlin inner DysF domain. 6
26806107 2016
16
Toward an objective measure of functional disability in dysferlinopathy. 6
25900324 2016
17
Dysferlinopathy in Iran: Clinical and genetic report. 6
26671124 2015
18
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 6
26436962 2015
19
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. 6
27066573 2015
20
Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair. 6
26579332 2015
21
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 6
26404900 2015
22
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. 6
25987458 2015
23
Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides. 6
26273692 2015
24
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy. 6
25868377 2015
25
Identification of splicing defects caused by mutations in the dysferlin gene. 6
25312915 2014
26
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. 6
25591676 2014
27
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
28
Mycophenolate mofetil in the treatment of multiple sclerosis: a preliminary report. 6
25591678 2014
29
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. 6
24488599 2014
30
A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides. 6
25493284 2014
31
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 6
25135358 2014
32
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. 6
23530687 2013
33
Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected]. 6
23519732 2013
34
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B. 6
23243261 2013
35
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. 6
23406536 2013
36
Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy. 6
22297152 2012
37
Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells. 6
22318734 2012
38
Dysferlin-peptides reallocate mutated dysferlin thereby restoring function. 6
23185377 2012
39
Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release. 6
22057634 2011
40
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 6
21522182 2011
41
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. 6
22194990 2011
42
New aspects on patients affected by dysferlin deficient muscular dystrophy. 6
19528035 2010
43
Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression. 6
20558759 2010
44
Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51. 6
20535123 2010
45
Novel diagnostic features of dysferlinopathies. 6
20544924 2010
46
Novel DYSF mutations in Thai patients with distal myopathy. 6
19493611 2009
47
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. 6
19154541 2009
48
Analysis of the DYSF mutational spectrum in a large cohort of patients. 6
18853459 2009
49
A new phenotype of dysferlinopathy with congenital onset. 6
19084402 2009
50
Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset. 6
18832576 2008

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

ClinVar genetic disease variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

6 (show top 50) (show all 513)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMNA NM_170707.4(LMNA):c.550C>T (p.Gln184Ter) SNV Pathogenic 932950 GRCh37: 1:156104230-156104230
GRCh38: 1:156134439-156134439
2 DYSF NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs) Indel Pathogenic 6669 rs786200896 GRCh37: 2:71887767-71887771
GRCh38: 2:71660637-71660641
3 DYSF NM_001130987.2(DYSF):c.5156_5174+4dup Duplication Pathogenic 6670 rs786205082 GRCh37: 2:71891547-71891548
GRCh38: 2:71664417-71664418
4 DYSF NM_001130987.2(DYSF):c.5174+5G>A SNV Pathogenic 6672 rs745891180 GRCh37: 2:71891573-71891573
GRCh38: 2:71664443-71664443
5 DYSF NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) Indel Pathogenic 6673 rs121908957 GRCh37: 2:71709064-71709065
GRCh38: 2:71481934-71481935
6 DYSF NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr) SNV Pathogenic 6677 rs121908960 GRCh37: 2:71780261-71780261
GRCh38: 2:71553131-71553131
7 DYSF NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly) SNV Pathogenic 6678 rs121908961 GRCh37: 2:71894506-71894506
GRCh38: 2:71667376-71667376
8 DYSF NM_001130987.2(DYSF):c.3497-33A>G SNV Pathogenic 6680 rs786205083 GRCh37: 2:71817308-71817308
GRCh38: 2:71590178-71590178
9 DYSF NM_001130987.2(DYSF):c.1381-2A>G SNV Pathogenic 6683 rs786200897 GRCh37: 2:71762149-71762149
GRCh38: 2:71535019-71535019
10 DYSF NM_001130987.2(DYSF):c.951+1del Deletion Pathogenic 6684 rs786200898 GRCh37: 2:71743372-71743372
GRCh38: 2:71516242-71516242
11 DYSF NM_001130987.2(DYSF):c.1149+1G>A SNV Pathogenic 94262 rs398123763 GRCh37: 2:71748035-71748035
GRCh38: 2:71520905-71520905
12 DYSF NM_001130987.2(DYSF):c.1577-1692G>A SNV Pathogenic 94274 rs398123770 GRCh37: 2:71776479-71776479
GRCh38: 2:71549349-71549349
13 DYSF NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) SNV Pathogenic 197217 rs794727636 GRCh37: 2:71730372-71730372
GRCh38: 2:71503242-71503242
14 DYSF NM_001130987.2(DYSF):c.759+1G>C SNV Pathogenic 94355 rs398123800 GRCh37: 2:71741052-71741052
GRCh38: 2:71513922-71513922
15 DYSF NM_001130987.2(DYSF):c.1263_1276+1dup Duplication Pathogenic 217221 rs863225019 GRCh37: 2:71753462-71753463
GRCh38: 2:71526332-71526333
16 DYSF NM_001130987.2(DYSF):c.3564_3565CT[1] (p.Ser1189fs) Microsatellite Pathogenic 284251 rs886042827 GRCh37: 2:71817408-71817409
GRCh38: 2:71590278-71590279
17 DYSF NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp) SNV Pathogenic 430739 rs1131692158 GRCh37: 2:71896337-71896337
GRCh38: 2:71669207-71669207
18 DYSF NM_001130987.2(DYSF):c.922del (p.Glu308fs) Deletion Pathogenic 499095 rs1553522133 GRCh37: 2:71743340-71743340
GRCh38: 2:71516210-71516210
19 DYSF NM_001130987.2(DYSF):c.730del (p.Leu244fs) Deletion Pathogenic 523646 rs1553521119 GRCh37: 2:71741022-71741022
GRCh38: 2:71513892-71513892
20 DYSF NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) SNV Pathogenic 551236 rs750028300 GRCh37: 2:71797407-71797407
GRCh38: 2:71570277-71570277
21 DYSF NM_001130987.2(DYSF):c.1350del (p.Phe451fs) Deletion Pathogenic 551669 rs766936914 GRCh37: 2:71755498-71755498
GRCh38: 2:71528368-71528368
22 DYSF NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter) SNV Pathogenic 551845 rs199543257 GRCh37: 2:71791326-71791326
GRCh38: 2:71564196-71564196
23 DYSF NM_001130987.2(DYSF):c.1577-2A>G SNV Pathogenic 552023 rs1553542142 GRCh37: 2:71778169-71778169
GRCh38: 2:71551039-71551039
24 DYSF NM_001130987.2(DYSF):c.5317+1G>A SNV Pathogenic 538631 rs773386253 GRCh37: 2:71892435-71892435
GRCh38: 2:71665305-71665305
25 DYSF NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter) SNV Pathogenic 554013 rs778092738 GRCh37: 2:71838459-71838459
GRCh38: 2:71611329-71611329
26 DYSF NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter) SNV Pathogenic 554672 rs1553422723 GRCh37: 2:71909738-71909738
GRCh38: 2:71682608-71682608
27 DYSF NM_001130987.2(DYSF):c.890_891CT[1] (p.Leu298fs) Microsatellite Pathogenic 555171 rs1553522104 GRCh37: 2:71743311-71743312
GRCh38: 2:71516181-71516182
28 DYSF NM_001130987.2(DYSF):c.4221+1G>C SNV Pathogenic 555431 rs1474151297 GRCh37: 2:71838757-71838757
GRCh38: 2:71611627-71611627
29 DYSF NM_001130987.2(DYSF):c.1449+1G>A SNV Pathogenic 554978 rs1553535902 GRCh37: 2:71762220-71762220
GRCh38: 2:71535090-71535090
30 DYSF NM_001130987.2(DYSF):c.4941del (p.Lys1648fs) Deletion Pathogenic 369690 rs1057516051 GRCh37: 2:71887719-71887719
GRCh38: 2:71660587-71660587
31 DYSF NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter) SNV Pathogenic 556201 rs1553521017 GRCh37: 2:71740914-71740914
GRCh38: 2:71513784-71513784
32 DYSF NM_001130987.2(DYSF):c.2698-2A>G SNV Pathogenic 556235 rs1420930684 GRCh37: 2:71795300-71795300
GRCh38: 2:71568170-71568170
33 DYSF NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter) SNV Pathogenic 557310 rs1380642629 GRCh37: 2:71825774-71825774
GRCh38: 2:71598644-71598644
34 DYSF NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter) SNV Pathogenic 558274 rs763674597 GRCh37: 2:71827934-71827934
GRCh38: 2:71600804-71600804
35 DYSF NM_001130987.2(DYSF):c.1562del (p.Gly521fs) Deletion Pathogenic 623361 rs1559109621 GRCh37: 2:71766354-71766354
GRCh38: 2:71539224-71539224
36 DYSF NM_001130987.2(DYSF):c.1560del (p.Gly521fs) Deletion Pathogenic 623388 rs1456182703 GRCh37: 2:71766353-71766353
GRCh38: 2:71539223-71539223
37 DYSF NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) Indel Pathogenic 94305 rs398123781 GRCh37: 2:71817342-71817343
GRCh38: 2:71590212-71590213
38 DYSF NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs) Duplication Pathogenic 632557 rs1558783870 GRCh37: 2:71895940-71895941
GRCh38: 2:71668810-71668811
39 DYSF NM_001130987.2(DYSF):c.2473C>T (p.Gln825Ter) SNV Pathogenic 638644 rs1574016452 GRCh37: 2:71791251-71791251
GRCh38: 2:71564121-71564121
40 DYSF NM_001130987.2(DYSF):c.1000del (p.Arg334fs) Deletion Pathogenic 693997 rs1573671276 GRCh37: 2:71744166-71744166
GRCh38: 2:71517036-71517036
41 DYSF NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter) SNV Pathogenic 694000 rs866823474 GRCh37: 2:71838751-71838751
GRCh38: 2:71611621-71611621
42 DYSF NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter) SNV Pathogenic 694065 rs1573138336 GRCh37: 2:71901392-71901392
GRCh38: 2:71674262-71674262
43 DYSF NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) Indel Pathogenic 94305 rs398123781 GRCh37: 2:71817342-71817343
GRCh38: 2:71590212-71590213
44 DYSF NM_001130987.2(DYSF):c.1149+3G>C SNV Pathogenic 638642 rs1573704236 GRCh37: 2:71748037-71748037
GRCh38: 2:71520907-71520907
45 DYSF NM_001130987.2(DYSF):c.5405del (p.Glu1802fs) Deletion Pathogenic 834073 GRCh37: 2:71894593-71894593
GRCh38: 2:71667463-71667463
46 DYSF NM_001130987.2(DYSF):c.2217-1G>T SNV Pathogenic 290204 rs886044379 GRCh37: 2:71788881-71788881
GRCh38: 2:71561751-71561751
47 DYSF NM_001130987.2(DYSF):c.147+1G>A SNV Pathogenic 973349 GRCh37: 2:71708069-71708069
GRCh38: 2:71480939-71480939
48 DYSF NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) Deletion Pathogenic 6685 rs727503909 GRCh37: 2:71795435-71795435
GRCh38: 2:71568305-71568305
49 DYSF NM_001130987.2(DYSF):c.1380+2T>C SNV Pathogenic 94266 rs398123765 GRCh37: 2:71755533-71755533
GRCh38: 2:71528403-71528403
50 DYSF NM_001130987.2(DYSF):c.1488dup (p.Asp497fs) Duplication Pathogenic 94271 rs398123767 GRCh37: 2:71762435-71762436
GRCh38: 2:71535305-71535306

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Search GEO for disease gene expression data for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b.

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Pathways related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 TRIM72 TCAP DYSF DMD CAV3
2
Show member pathways
12.37 SGCG SGCD SGCB SGCA DMD DAG1
3
Show member pathways
11.77 SGCG SGCD SGCB SGCA LMNA DMD
4 11.35 SGCG SGCD SGCB SGCA LMNA DMD
5 10.99 TRIM72 DYSF CAV3
6 10.65 DMD DAG1

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Cellular components related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.41 TRIM72 SGCG SGCD SGCB SGCA OTOF
2 plasma membrane GO:0005886 10.25 TRIM72 SGCG SGCD SGCB SGCA OTOF
3 cytoskeleton GO:0005856 10.04 SGCG SGCD SGCB SGCA MYOT DMD
4 membrane raft GO:0045121 9.85 SGCA DMD DAG1 CAV3 AHNAK
5 Z disc GO:0030018 9.8 TCAP MYOT DMD CAV3 CAPN3
6 T-tubule GO:0030315 9.65 FER1L5 DYSF CAV3 CAPN3 AHNAK
7 costamere GO:0043034 9.61 DMD DAG1 AHNAK
8 dystroglycan complex GO:0016011 9.54 SGCB SGCA DAG1
9 sarcoglycan complex GO:0016012 9.46 SGCG SGCD SGCB SGCA
10 dystrophin-associated glycoprotein complex GO:0016010 9.43 SGCD SGCB SGCA DMD DAG1 CAV3
11 sarcolemma GO:0042383 9.4 TRIM72 SGCG SGCD SGCB SGCA MYOT

Biological processes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.8 TRIM72 SGCA MYOT MYOF DYSF CAV3
2 membrane fusion GO:0061025 9.67 OTOF MYOF FER1L5 DYSF
3 skeletal muscle tissue regeneration GO:0043403 9.65 SGCA DMD DAG1
4 muscle cell cellular homeostasis GO:0046716 9.63 DMD CAV3 CAPN3
5 cardiac muscle tissue development GO:0048738 9.61 SGCG SGCD
6 myoblast fusion GO:0007520 9.61 MYOF FER1L5 CAV3
7 negative regulation of phagocytosis GO:0050765 9.6 FER1L5 DYSF
8 response to muscle stretch GO:0035994 9.59 TCAP DMD
9 heart contraction GO:0060047 9.58 SGCG SGCD
10 macrophage activation involved in immune response GO:0002281 9.58 FER1L5 DYSF
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.58 SGCA DMD DAG1
12 muscle fiber development GO:0048747 9.57 SGCB DMD
13 cardiac muscle cell development GO:0055013 9.56 SGCB CAV3
14 T-tubule organization GO:0033292 9.56 MYOF FER1L5 DYSF CAV3
15 regulation of voltage-gated calcium channel activity GO:1901385 9.55 DMD AHNAK
16 plasma membrane repair GO:0001778 9.55 TRIM72 MYOF FER1L5 DYSF CAV3
17 nucleus localization GO:0051647 9.54 DMD CAV3
18 detection of muscle stretch GO:0035995 9.52 TCAP CAV3
19 regulation of skeletal muscle contraction GO:0014819 9.51 DMD CAV3
20 monocyte activation involved in immune response GO:0002280 9.49 FER1L5 DYSF
21 plasma membrane organization GO:0007009 9.43 OTOF MYOF FER1L6 FER1L5 DYSF CAV3
22 muscle organ development GO:0007517 9.28 TRIM72 SGCG SGCD SGCB SGCA LMNA

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.63 SGCA OTOF FER1L5 DYSF DAG1 CAPN3
2 alpha-actinin binding GO:0051393 9.4 MYOT DAG1
3 nitric-oxide synthase binding GO:0050998 9.37 DMD CAV3
4 titin binding GO:0031432 9.32 TCAP CAPN3
5 vinculin binding GO:0017166 9.26 DMD DAG1
6 dystroglycan binding GO:0002162 9.13 FKRP DMD DAG1
7 structural constituent of muscle GO:0008307 9.02 TCAP MYOT DMD DAG1 CAPN3

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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