LGMD3
MCID: ATS298
MIFTS: 40

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

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 71
Limb-Girdle Muscular Dystrophy Type 3 12
Lgmd2b 12
Lgmd3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110276
ICD10 32 G71.0
UMLS 71 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 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 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 101)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal dominant 3 33.0 MYOT CAV3 ANO5
2 dysferlinopathy 32.3 OTOF MYOF DYSF CAPN3
3 muscular dystrophy, limb-girdle, autosomal recessive 2 30.1 TCAP SGCG SGCD SGCA MYOT FKRP
4 limb-girdle muscular dystrophy 29.9 TCAP SGCG SGCD SGCA MYOT LAMA2
5 atrial standstill 1 29.7 TCAP SGCA MYOT FKRP DMD CAV3
6 autosomal recessive limb-girdle muscular dystrophy 27.1 TCAP SGCG SGCD SGCA MYOT LAMA2
7 myopathy 26.7 TCAP SGCG SGCD SGCA OTOF MYOT
8 muscular dystrophy 26.5 TRIM72 TCAP SGCG SGCD SGCA OTOF
9 miyoshi muscular dystrophy 1 10.5
10 qualitative or quantitative defects of dysferlin 10.5
11 paresthesia 10.4 FKRP CAPN3
12 localized lipodystrophy 10.4 DYSF DMD
13 muscular dystrophy, limb-girdle, type 1h 10.3 MYOT CAV3
14 autosomal recessive limb-girdle muscular dystrophy type 2w 10.3 MYOT ANO5
15 progressive muscular dystrophy 10.3 SGCA DMD
16 autosomal dominant distal myopathy 10.3 MYOT DMD
17 rippling muscle disease 2 10.3 FKRP DYSF CAV3
18 muscular dystrophy, limb-girdle, autosomal recessive 1 10.3
19 muscular atrophy 10.3
20 polyglucosan body myopathy 1 with or without immunodeficiency 10.2 FKRP DMD CAPN3
21 mcleod syndrome 10.2 SGCA DMD
22 reducing body myopathy 1a 10.2 TCAP MYOT
23 myopathy, myofibrillar, 1 10.2 MYOT DMD CAPN3
24 myopathy, myofibrillar, 9, with early respiratory failure 10.2 TCAP MYOT CAPN3
25 myopathy, myofibrillar, 4 10.2 TCAP MYOT
26 congenital muscular dystrophy-dystroglycanopathy type a5 10.2 FKRP DAG1
27 congenital muscular dystrophy-dystroglycanopathy type a1 10.1 FKRP DAG1
28 myopathy, spheroid body 10.1 TCAP MYOT
29 vascular disease 10.1
30 qualitative or quantitative defects of sarcoglycan 10.1
31 autosomal recessive limb-girdle muscular dystrophy type 2x 10.1 MYOT DYSF CAV3 ANO5
32 myopathy, myofibrillar, 2 10.1 MYOT DMD
33 muscular dystrophy, limb-girdle, autosomal recessive 8 10.1 TCAP FKRP DYSF CAPN3
34 muscular dystrophy-dystroglycanopathy , type c, 9 10.1 MYOT DYSF DAG1
35 centronuclear myopathy 10.1 DYSF DMD CAV3
36 glycogen storage disease ii 10.1 FKRP DMD CAV3 CAPN3
37 muscular dystrophy-dystroglycanopathy , type c, 14 10.1 DAG1 ANO5
38 muscular dystrophy, limb-girdle, autosomal dominant 1 10.1 TCAP MYOT DYSF CAV3
39 autosomal recessive limb-girdle muscular dystrophy type 2q 10.0 TCAP MYOT DYSF ANO5
40 muscular dystrophy-dystroglycanopathy , type b, 6 10.0 FKRP DAG1
41 muscular dystrophy-dystroglycanopathy , type c, 2 10.0 FKRP DAG1 ANO5
42 muscular dystrophy-dystroglycanopathy , type c, 3 10.0 FKRP DAG1 ANO5
43 muscle eye brain disease 10.0 SGCA FKRP DAG1
44 miyoshi muscular dystrophy 3 10.0 SGCD DYSF CAPN3 ANO5
45 cobblestone lissencephaly 10.0 FKRP DMD DAG1
46 congenital muscular dystrophy-dystroglycanopathy a14 9.9 LAMA2 DAG1
47 autosomal dominant limb-girdle muscular dystrophy 9.9 TCAP MYOT DYSF CAV3 CAPN3
48 familial isolated dilated cardiomyopathy 9.9 TCAP SGCD DMD
49 tibial muscular dystrophy 9.9 TCAP MYOT DYSF DMD CAPN3
50 muscular dystrophy, congenital, 1b 9.9 LAMA2 FKRP 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ANO5 DAG1 DMD DYSF FKRP LAMA2
2 cardiovascular system MP:0005385 9.85 CAPN3 CAV3 DAG1 DMD FKRP MYOF
3 homeostasis/metabolism MP:0005376 9.8 AHNAK ANO5 CAPN3 CAV3 DAG1 DMD
4 muscle MP:0005369 9.47 ANO5 CAPN3 CAV3 DAG1 DMD DYSF

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 Anti-Inflammatory Agents Phase 2, Phase 3
4 Immunologic Factors Phase 2, Phase 3
5 Vaccines Phase 1

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
2 An Open-Label, Intrapatient Dose Escalation Study to Evaluate the Safety, Tolerability, Immunogenicity, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
3 An Open-Label Extension Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophy Completed NCT02836418 Phase 1, Phase 2 ATYR1940
4 Phase I Intramuscular Gene Transfer Clinical Trial for Dysferlin Deficiency Delivering the Dysferlin Gene by AAVrh74 Completed NCT02710500 Phase 1 rAAVrh74.MHCK7.DYSF.DV
5 International Clinical Outcome Study for Dysferlinopathy Unknown status NCT01676077
6 Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients With a Fragile Sarcolemmal Muscular Dystrophy Active, not recruiting NCT01851447

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

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

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

# Title Authors PMID Year
1
Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B. 61
30366248 2018
2
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. 61
28104817 2017
3
The third human FER-1-like protein is highly similar to dysferlin. 61
10995573 2000

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 251) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DYSF NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)SNV Pathogenic 419655 rs1064794020 2:71906303-71906303 2:71679173-71679173
2 DYSF NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp)SNV Pathogenic 430739 rs1131692158 2:71896337-71896337 2:71669207-71669207
3 DYSF NM_001130987.2(DYSF):c.922del (p.Glu308fs)deletion Pathogenic 499095 rs1553522133 2:71743340-71743340 2:71516210-71516210
4 DYSF NM_001130987.2(DYSF):c.730del (p.Leu244fs)deletion Pathogenic 523646 rs1553521119 2:71741022-71741022 2:71513892-71513892
5 DYSF NM_001130987.2(DYSF):c.5317+1G>ASNV Pathogenic 538631 rs773386253 2:71892435-71892435 2:71665305-71665305
6 DYSF NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)SNV Pathogenic 556201 rs1553521017 2:71740914-71740914 2:71513784-71513784
7 DYSF NM_001130987.2(DYSF):c.4221+1G>CSNV Pathogenic 555431 rs1474151297 2:71838757-71838757 2:71611627-71611627
8 DYSF NM_001130987.2(DYSF):c.1350del (p.Phe451fs)deletion Pathogenic 551669 rs766936914 2:71755498-71755498 2:71528368-71528368
9 DYSF NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter)SNV Pathogenic 551845 rs199543257 2:71791326-71791326 2:71564196-71564196
10 DYSF NM_001130987.2(DYSF):c.2698-2A>GSNV Pathogenic 556235 rs1420930684 2:71795300-71795300 2:71568170-71568170
11 DYSF NM_001130987.2(DYSF):c.890_891CT[1] (p.Leu298fs)short repeat Pathogenic 555171 rs1553522104 2:71743311-71743312 2:71516181-71516182
12 DYSF NM_001130987.2(DYSF):c.1449+1G>ASNV Pathogenic 554978 rs1553535902 2:71762220-71762220 2:71535090-71535090
13 DYSF NM_001130987.2(DYSF):c.1471dup (p.Met491fs)duplication Pathogenic 550946 rs1236367931 2:71762413-71762414 2:71535283-71535284
14 DYSF NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter)SNV Pathogenic 557310 rs1380642629 2:71825774-71825774 2:71598644-71598644
15 DYSF NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter)SNV Pathogenic 554013 rs778092738 2:71838459-71838459 2:71611329-71611329
16 DYSF NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter)SNV Pathogenic 554672 rs1553422723 2:71909738-71909738 2:71682608-71682608
17 DYSF NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)SNV Pathogenic 558274 rs763674597 2:71827934-71827934 2:71600804-71600804
18 DYSF NM_001130987.2(DYSF):c.1577-2A>GSNV Pathogenic 552023 rs1553542142 2:71778169-71778169 2:71551039-71551039
19 DYSF NM_001130987.2(DYSF):c.5200del (p.Gln1734fs)deletion Pathogenic 619218 rs1558771348 2:71892316-71892316 2:71665186-71665186
20 DYSF NM_001130987.2(DYSF):c.1560del (p.Gly521fs)deletion Pathogenic 623388 rs1456182703 2:71766353-71766353 2:71539223-71539223
21 DYSF NM_001130987.2(DYSF):c.1562del (p.Gly521fs)deletion Pathogenic 623361 rs1559109621 2:71766354-71766354 2:71539224-71539224
22 DYSF NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs)duplication Pathogenic 632557 rs1558783870 2:71895940-71895941 2:71668810-71668811
23 DYSF NM_001130987.2(DYSF):c.1149+3G>CSNV Pathogenic 638642 2:71748037-71748037 2:71520907-71520907
24 DYSF NM_001130987.2(DYSF):c.2473C>T (p.Gln825Ter)SNV Pathogenic 638644 2:71791251-71791251 2:71564121-71564121
25 DYSF NM_001130987.2(DYSF):c.1000del (p.Arg334fs)deletion Pathogenic 693997 2:71744166-71744166 2:71517036-71517036
26 DYSF NM_001130987.2(DYSF):c.5850G>A (p.Trp1950Ter)SNV Pathogenic 694065 2:71901392-71901392 2:71674262-71674262
27 DYSF NM_001130987.2(DYSF):c.4216G>T (p.Glu1406Ter)SNV Pathogenic 694000 2:71838751-71838751 2:71611621-71611621
28 DYSF NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)SNV Pathogenic 6676 rs121908959 2:71901372-71901372 2:71674242-71674242
29 DYSF NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr)SNV Pathogenic 6677 rs121908960 2:71780261-71780261 2:71553131-71553131
30 DYSF NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly)SNV Pathogenic 6678 rs121908961 2:71894506-71894506 2:71667376-71667376
31 DYSF NM_001130987.2(DYSF):c.3497-33A>GSNV Pathogenic 6680 rs786205083 2:71817308-71817308 2:71590178-71590178
32 DYSF NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)SNV Pathogenic 6681 rs121908963 2:71744158-71744158 2:71517028-71517028
33 DYSF NM_001130987.2(DYSF):c.1381-2A>GSNV Pathogenic 6683 rs786200897 2:71762149-71762149 2:71535019-71535019
34 DYSF NM_001130987.2(DYSF):c.951+1deldeletion Pathogenic 6684 rs786200898 2:71743372-71743372 2:71516242-71516242
35 DYSF NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)deletion Pathogenic 6685 rs727503909 2:71795435-71795435 2:71568305-71568305
36 DYSF NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs)indel Pathogenic 6669 rs786200896 2:71887767-71887771 2:71660637-71660641
37 DYSF NM_001130987.2(DYSF):c.5156_5174+4dupduplication Pathogenic 6670 rs786205082 2:71891547-71891548 2:71664417-71664418
38 DYSF NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)SNV Pathogenic 6671 rs121908956 2:71791204-71791204 2:71564074-71564074
39 DYSF NM_001130987.2(DYSF):c.5174+5G>ASNV Pathogenic 6672 rs745891180 2:71891573-71891573 2:71664443-71664443
40 DYSF NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp)indel Pathogenic 6673 rs121908957 2:71709064-71709065 2:71481934-71481935
41 DYSF NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)SNV Pathogenic 6674 rs28937581 2:71797430-71797430 2:71570300-71570300
42 DYSF NM_001130987.2(DYSF):c.5405del (p.Glu1802fs)deletion Pathogenic 834073 2:71894593-71894593 2:71667463-71667463
43 DYSF NM_001130987.2(DYSF):c.1380+2T>CSNV Pathogenic 94266 rs398123765 2:71755533-71755533 2:71528403-71528403
44 DYSF NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)SNV Pathogenic 94269 rs202044973 2:71762412-71762412 2:71535282-71535282
45 DYSF NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)duplication Pathogenic 94271 rs398123767 2:71762435-71762436 2:71535305-71535306
46 DYSF NM_001130987.2(DYSF):c.1577-1692G>ASNV Pathogenic 94274 rs398123770 2:71776479-71776479 2:71549349-71549349
47 DYSF NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)SNV Pathogenic 94278 rs377735262 2:71778761-71778761 2:71551631-71551631
48 DYSF NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)indel Pathogenic 94305 rs398123781 2:71817342-71817343 2:71590212-71590213
49 DYSF NM_001130987.2(DYSF):c.356del (p.Val119fs)deletion Pathogenic 94308 rs398123782 2:71738947-71738947 2:71511817-71511817
50 DYSF NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)duplication Pathogenic 94320 rs398123786 2:71839796-71839797 2:71612666-71612667

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
12.49 TRIM72 TCAP DYSF DMD CAV3
2
Show member pathways
12.48 SGCG SGCD SGCA LAMA2 DMD DAG1
3
Show member pathways
11.7 SGCG SGCD SGCA LAMA2 DMD DAG1
4
Show member pathways
11.29 SGCG SGCD SGCA LAMA2 DMD DAG1
5 11.05 TRIM72 DYSF CAV3
6 10.61 LAMA2 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 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.41 TRIM72 SGCG SGCD SGCA PARVB OTOF
2 plasma membrane GO:0005886 10.3 TRIM72 SGCG SGCD SGCA PARVB OTOF
3 cytoskeleton GO:0005856 10.05 SGCG SGCD SGCA PARVB MYOT DMD
4 membrane raft GO:0045121 9.85 SGCA DMD DAG1 CAV3 AHNAK
5 lamellipodium GO:0030027 9.8 PARVB DYSF DMD DAG1
6 Z disc GO:0030018 9.8 TCAP PARVB MYOT DMD CAV3 CAPN3
7 T-tubule GO:0030315 9.65 FER1L5 DYSF CAV3 CAPN3 AHNAK
8 costamere GO:0043034 9.61 DMD DAG1 AHNAK
9 sarcoglycan complex GO:0016012 9.58 SGCG SGCD SGCA
10 dystroglycan complex GO:0016011 9.46 SGCG SGCD SGCA DAG1
11 sarcolemma GO:0042383 9.4 TRIM72 SGCG SGCD SGCA MYOT LAMA2
12 dystrophin-associated glycoprotein complex GO:0016010 9.35 SGCD SGCA DMD DAG1 CAV3

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.8 TRIM72 SGCA MYOT MYOF DYSF CAV3
2 cardiac muscle contraction GO:0060048 9.72 TCAP SGCD DMD
3 membrane fusion GO:0061025 9.71 OTOF MYOF FER1L5 DYSF
4 muscle cell cellular homeostasis GO:0046716 9.67 DMD CAV3 CAPN3
5 skeletal muscle tissue regeneration GO:0043403 9.67 SGCA DYSF DMD DAG1
6 myoblast fusion GO:0007520 9.65 MYOF FER1L5 CAV3
7 cardiac muscle tissue development GO:0048738 9.63 SGCG SGCD
8 muscle fiber development GO:0048747 9.63 MYOF DYSF DMD
9 negative regulation of phagocytosis GO:0050765 9.62 FER1L5 DYSF
10 response to muscle stretch GO:0035994 9.62 TCAP DMD
11 heart contraction GO:0060047 9.61 SGCG SGCD
12 glycerol metabolic process GO:0006071 9.61 MYOF DYSF
13 response to denervation involved in regulation of muscle adaptation GO:0014894 9.61 SGCA DMD DAG1
14 macrophage activation involved in immune response GO:0002281 9.6 FER1L5 DYSF
15 cardiac muscle fiber development GO:0048739 9.59 TCAP SGCD
16 regulation of calcium ion import GO:0090279 9.58 DYSF CAV3
17 nucleus localization GO:0051647 9.58 DMD CAV3
18 Schwann cell differentiation GO:0014037 9.57 LAMA2 DAG1
19 regulation of voltage-gated calcium channel activity GO:1901385 9.56 DMD AHNAK
20 T-tubule organization GO:0033292 9.56 MYOF FER1L5 DYSF CAV3
21 plasma membrane repair GO:0001778 9.55 TRIM72 MYOF FER1L5 DYSF CAV3
22 detection of muscle stretch GO:0035995 9.54 TCAP CAV3
23 regulation of skeletal muscle contraction GO:0014819 9.52 DMD CAV3
24 monocyte activation involved in immune response GO:0002280 9.51 FER1L5 DYSF
25 plasma membrane organization GO:0007009 9.43 OTOF MYOF FER1L6 FER1L5 DYSF CAV3
26 muscle organ development GO:0007517 9.23 TRIM72 SGCG SGCD SGCA LAMA2 DMD

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
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
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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