MCID: MSC113
MIFTS: 54

Muscular Dystrophy, Limb-Girdle, Type 2b malady

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

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

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Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 2b:

Name: Muscular Dystrophy, Limb-Girdle, Type 2b 51 12 67
Lgmd2b 11 47 24 53 69 49
Lgmd3 11 47 69
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 11 53
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 11 53
Limb-Girdle Muscular Dystrophy, Type 2b 34 47
 
Limb-Girdle Muscular Dystrophy 2b 69 26
Muscular Dystrophy, Limb-Girdle, Type 3 47
Limb-Girdle Muscular Dystrophy Type 2b 24
Limb-Girdle Muscular Dystrophy Type 3 11
Muscular Dystrophy Limb-Girdle Type 3 69

Characteristics:

Orphanet epidemiological data:

53
lgmd2b:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United Kingdom); Age of onset: Adult; Age of death: normal life expectancy

HPO:

63
muscular dystrophy, limb-girdle, type 2b:
Inheritance: autosomal recessive inheritance
Onset and clinical course: slow progression

Classifications:



External Ids:

OMIM51 253601
Disease Ontology11 DOID:0110276
ICD1029 G71.0
Orphanet53 ORPHA268
ICD10 via Orphanet30 G71.0
MedGen36 C1850889
MeSH38 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2b

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NIH Rare Diseases:47 Limb-girdle muscular dystrophy, type 2B (LGMD2B) is one of many forms of limb-girdle muscular dystrophy, a group of disorders that affect the voluntary muscles of the hips and shoulders. LGMD2B is characterized by early weakness and wasting (atrophy) of the pelvic and shoulder girdle muscles in adolescence or young adulthood. The age of onset typically ranges from 15 to 35 years, and legs are usually affected first. Symptoms include the inability to tiptoe and difficulty walking and running. Cardiac (heart) and respiratory involvement is uncommon. It is usually slowly progressive, with need of a wheelchair 10 to 20 years after onset. LGMD2B is caused by mutations in the DYSF gene and is inherited in an autosomal recessive manner. There is no specific treatment. Management is tailored to each person and may include physical therapy and stretching exercises; use of aids for mobility; and surgery as needed for orthopedic complications. Last updated: 3/21/2016

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2b, also known as lgmd2b, is related to dysferlinopathy and muscular dystrophy, and has symptoms including elevated serum creatine phosphokinase, emg and difficulty climbing stairs. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2b is DYSF (Dysferlin), and among its related pathways are Smooth Muscle Contraction and Striated Muscle Contraction. Affiliated tissues include skeletal muscle and heart, and related mouse phenotypes are immune system and cardiovascular system.

Disease Ontology:11 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.

UniProtKB/Swiss-Prot:69 Limb-girdle muscular dystrophy 2B: An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs.

Description from OMIM:51 253601

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 2b

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Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b muscular dystrophy, limb-girdle, type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type Ic Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2e Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 1e
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 2c
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 2d Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1dysferlinopathy11.6
2muscular dystrophy10.7
3limb-girdle muscular dystrophy10.7
4cataract10.5CAPN3, DYSF
5myopathy10.4
6juvenile primary osteoporosis10.4CAPN3, FKRP
7miyoshi muscular dystrophy 110.3CAPN3, DYSF, MYOF
8dystrophinopathies10.3CAPN3, DYSF, MYOF
9cerebellar agenesis10.3DMD, DYSF
10polymyositis10.1
11dysphagia10.1
12segawa syndrome, recessive10.1DMD, DYSF
13chronic granulomatous disease, x-linked10.0DMD, SGCA
14microcephaly and chorioretinopathy 110.0DMD, DYSF
15myostatin-related muscle hypertrophy10.0DMD, MYOT
16medial medullary syndrome10.0FKRP, SGCA
17colon cancer, advanced somatic9.9DMD, FKRP
18bethlem myopathy 19.9CAPN3, DMD, DYSF
19cataract 16, multiple types9.9DMD, MYOT
20myelodysplastic myeloproliferative cancer9.9CAV3, TTN
21fletcher factor deficiency9.9CAPN3, DMD
22myopathy, distal, 49.8DMD, DYSF, MYOT
23myopathy, spheroid body9.8MYOT, TTN
24rippling muscle disease9.8CAV3, DYSF, TTN
25proliferating trichilemmal cyst9.8DMD, FKRP, SGCA
26adult malignant hemangiopericytoma9.8CAPN3, DYSF, TTN
27autoimmune thyroid disease 29.7MYOT, TTN
28muscular dystrophy, rigid spine, 19.7DMD, TTN
29nonsyndromic deafness9.7DMD, FKRP, SGCA
30cardiomyopathy, familial hypertrophic9.7CAV3, TCAP, TTN
31myopathy, lactic acidosis, and sideroblastic anemia9.7DMD, TTN
32epilepsy, generalized, with febrile seizures plus, type 19.6DMD, MYOT
33thrombocytopenia, x-linked9.5DMD, DYSF, FKRP, SGCA
34longitudinal vaginal septum9.5DMD, TCAP, TTN
35schindler disease9.4DMD, DYSF, SGCA, SGCB
36extraosseous ewing's sarcoma9.4DYSF, MYOT, TTN
37autoimmune disease of skin and connective tissue9.2DMD, TTN
38ectodermal dysplasia9.1DMD, SGCA, TCAP, TTN
39cardiovascular disease risk factor )8.8CAV3, DMD, SGCA, TCAP, TTN
40immunodeficiency 34, mycobacteriosis, x-linked8.6CAV3, DMD, SGCA, SGCB, TTN
41classic variant of chromophobe renal cell carcinoma8.5CAPN3, CAV3, DMD, DYSF, FKRP, MYOT
42emery-dreifuss muscular dystrophy8.4CAPN3, CAV3, DYSF, MYOT, SGCA, SGCB
43median arcuate ligament syndrome7.5CAPN3, CAV3, DMD, DYSF, FKRP, MYOT

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



Diseases related to muscular dystrophy, limb-girdle, type 2b

Symptoms for Muscular Dystrophy, Limb-Girdle, Type 2b

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Symptoms by clinical synopsis from OMIM:

253601

Clinical features from OMIM:

253601

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2b:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase63 HP:0003236
2 emg63 HP:0003458
3 difficulty climbing stairs63 HP:0003551
4 muscle fiber splitting63 HP:0003555
5 increased variability in muscle fiber diameter63 HP:0003557
6 muscular dystrophy63 HP:0003560
7 proximal muscle weakness63 HP:0003701
8 increased connective tissue63 HP:0009025
9 difficulty running63 HP:0009046

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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunosuppressive AgentsPhase 2, Phase 312770
2DeflazacortPhase 2, Phase 31314484-47-0
3Anti-Inflammatory AgentsPhase 2, Phase 310355
4VaccinesPhase 16428

Interventional clinical trials:

idNameStatusNCT IDPhase
1Deflazacort in DysferlinopathiesCompletedNCT00527228Phase 2, Phase 3
2The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular DystrophiesCompletedNCT02579239Phase 1, Phase 2
3rAAVrh74.MHCK7.DYSF.DV for Treatment of DysferlinopathiesRecruitingNCT02710500Phase 1
4Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
5Clinical Outcome Study for DysferlinopathyActive, not recruitingNCT01676077

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

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2b

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2b26
2 Limb-Girdle Muscular Dystrophy Type 2b24 DYSF

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2b

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

35
Skeletal muscle, Heart

Animal Models for Muscular Dystrophy, Limb-Girdle, Type 2b or affiliated genes

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053877.7CAV3, DMD, DYSF, FKRP, SGCA, SGCB
2MP:00053857.5CAPN3, CAV3, DMD, MYOF, SGCA, SGCB
3MP:00053767.4CAPN3, CAV3, DMD, DYSF, FKRP, SGCA
4MP:00053695.7CAPN3, CAV3, DMD, DYSF, FKRP, MYOF

Publications for Muscular Dystrophy, Limb-Girdle, Type 2b

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Variations for Muscular Dystrophy, Limb-Girdle, Type 2b

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2b:

69 (show all 25)
id Symbol AA change Variation ID SNP ID
1DYSFp.Pro791ArgVAR_012308rs121908956
2DYSFp.Ile1298ValVAR_012309rs121908954
3DYSFp.Arg2042CysVAR_012311rs121908955
4DYSFp.Ala170GluVAR_024853rs34999029
5DYSFp.Arg555TrpVAR_024859rs377735262
6DYSFp.Arg959TrpVAR_024860rs202218890
7DYSFp.Ile1208MetVAR_024865rs148858485
8DYSFp.Glu1335LysVAR_024868rs758993965
9DYSFp.Trp52ArgVAR_057834
10DYSFp.Val67AspVAR_057835rs121908957
11DYSFp.Gly155ArgVAR_057837rs200970855
12DYSFp.Gly234GluVAR_057838rs141497053
13DYSFp.Ile284ThrVAR_057839
14DYSFp.Gly299ArgVAR_057840rs121908963
15DYSFp.Gly618ArgVAR_057851rs201049092
16DYSFp.Gly621ArgVAR_057852
17DYSFp.Asp625TyrVAR_057853rs121908960
18DYSFp.Pro731ArgVAR_057854
19DYSFp.Leu1228ProVAR_057860
20DYSFp.Leu1341ProVAR_057862rs757917335
21DYSFp.Tyr1505CysVAR_057864rs757820496
22DYSFp.Lys1526ThrVAR_057865rs76086153
23DYSFp.Gly1543AspVAR_057866
24DYSFp.Glu1734GlyVAR_057872rs121908961
25DYSFp.Pro1970SerVAR_057880

Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2b:

5 (show all 117)
id Gene Variation Type Significance SNP ID Assembly Location
1DYSFNM_003494.3(DYSF): c.3832C> T (p.Gln1278Ter)SNVPathogenicrs727503911GRCh37Chr 2, 71827961: 71827961
2DYSFNM_003494.3(DYSF): c.5266C> T (p.Gln1756Ter)SNVPathogenicrs727503912GRCh37Chr 2, 71894571: 71894571
3DYSFNM_003494.3(DYSF): c.5525+1G> ASNVPathogenicrs727503915GRCh37Chr 2, 71896338: 71896338
4DYSFNM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys)SNVPathogenicrs786205084GRCh38Chr 2, 71668842: 71668842
5DYSFNM_003494.3(DYSF): c.1931-2deldeletionPathogenicrs774047700GRCh37Chr 2, 71780935: 71780935
6DYSFNM_003494.3(DYSF): c.1956G> A (p.Trp652Ter)SNVPathogenicrs794727343GRCh37Chr 2, 71780962: 71780962
7DYSFNM_003494.3(DYSF): c.3041A> G (p.Tyr1014Cys)SNVPathogenicrs756328339GRCh37Chr 2, 71797738: 71797738
8DYSFNM_003494.3(DYSF): c.3230G> A (p.Trp1077Ter)SNVPathogenicrs794727534GRCh37Chr 2, 71801383: 71801383
9DYSFNM_003494.3(DYSF): c.3349-2A> GSNVPathogenicrs370874727GRCh37Chr 2, 71816721: 71816721
10DYSFNM_003494.3(DYSF): c.265C> T (p.Arg89Ter)SNVPathogenicrs794727636GRCh37Chr 2, 71730372: 71730372
11DYSFNM_003494.3(DYSF): c.4434G> A (p.Trp1478Ter)SNVPathogenicrs766016391GRCh37Chr 2, 71871118: 71871118
12DYSFNM_003494.3(DYSF): c.790G> T (p.Glu264Ter)SNVPathogenicrs794727851GRCh37Chr 2, 71742879: 71742879
13DYSFNM_003494.3(DYSF): c.701G> A (p.Gly234Glu)SNVLikely pathogenicrs141497053GRCh37Chr 2, 71742790: 71742790
14DYSFNM_003494.3(DYSF): c.1167_1180+1dupduplicationPathogenicrs863225019GRCh37Chr 2, 71753463: 71753477
15DYSFNM_003494.3(DYSF): c.164dupA (p.Ile57Hisfs)duplicationPathogenicrs863225020GRCh37Chr 2, 71709028: 71709028
16DYSFNM_003494.3(DYSF): c.1834C> T (p.Gln612Ter)SNVPathogenicrs746873768GRCh37Chr 2, 71780222: 71780222
17DYSFNM_003494.3(DYSF): c.1852G> C (p.Gly618Arg)SNVLikely pathogenic, Pathogenicrs201049092GRCh37Chr 2, 71780240: 71780240
18DYSFNM_003494.3(DYSF): c.3112C> T (p.Arg1038Ter)SNVPathogenicrs369607332GRCh37Chr 2, 71797809: 71797809
19DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionPathogenicrs863224867GRCh37Chr 2, 71817414: 71817415
20DYSFNM_003494.3(DYSF): c.5077C> T (p.Arg1693Trp)SNVLikely pathogenic, Pathogenicrs863225021GRCh37Chr 2, 71892311: 71892311
21DYSFNM_003494.3(DYSF): c.2643+1G> ASNV, CompoundHeterozygoteLikely pathogenic, Pathogenicrs140108514GRCh37Chr 2, 71795213: 71795213
22DYSFNM_003494.3(DYSF): c.3113G> A (p.Arg1038Gln)SNVPathogenicrs150877497GRCh37Chr 2, 71797810: 71797810
23DYSFNM_003494.3(DYSF): c.331C> T (p.Gln111Ter)SNVPathogenicrs746315830GRCh37Chr 2, 71730438: 71730438
24DYSFNM_003494.3(DYSF): c.3478C> T (p.Gln1160Ter)SNVPathogenicrs886042091GRCh37Chr 2, 71817376: 71817376
25DYSFNM_001130987.1(DYSF): c.1372G> A (p.Gly458Arg)SNVPathogenicrs886042093GRCh37Chr 2, 71755523: 71755523
26DYSFNM_003494.3(DYSF): c.4090C> T (p.Gln1364Ter)SNVPathogenicrs886042095GRCh37Chr 2, 71838679: 71838679
27DYSFNM_003494.3(DYSF): c.5982_5989dupGAGTGAGC (p.His1997Argfs)duplicationPathogenicrs886042318GRCh37Chr 2, 71908166: 71908173
28DYSFNM_001130987.1(DYSF): c.1264G> A (p.Asp422Asn)SNVLikely pathogenicrs886042389GRCh37Chr 2, 71753464: 71753464
29DYSFNM_001130987.1(DYSF): c.4911+1G> TSNVPathogenicrs777216777GRCh37Chr 2, 71886164: 71886164
30DYSFNM_001130987.1(DYSF): c.2409+1G> ASNVPathogenicrs151317754GRCh37Chr 2, 71789075: 71789075
31DYSFNM_003494.3(DYSF): c.3444T> A (p.Tyr1148Ter)SNVLikely pathogenic, Pathogenicrs758944159GRCh37Chr 2, 71817342: 71817342
32DYSFNM_001130987.1(DYSF): c.5174+1G> ASNVPathogenicrs886042581GRCh37Chr 2, 71891569: 71891569
33DYSFNM_001130987.1(DYSF): c.3483delC (p.Cys1162Alafs)deletionPathogenicrs886042632GRCh37Chr 2, 71816803: 71816803
34DYSFNM_003494.3(DYSF): c.1708C> T (p.Gln570Ter)SNVPathogenicrs886042633GRCh37Chr 2, 71778806: 71778806
35DYSFNM_001130987.1(DYSF): c.4576G> T (p.Glu1526Ter)SNVPathogenicrs886042635GRCh37Chr 2, 71871143: 71871143
36DYSFNM_001130987.1(DYSF): c.5785-7G> ASNVPathogenicrs753861836GRCh37Chr 2, 71901320: 71901320
37DYSFNM_003494.3(DYSF): c.5947-1G> CSNVPathogenicrs886042636GRCh37Chr 2, 71908130: 71908130
38DYSFNM_001130987.1(DYSF): c.159G> A (p.Trp53Ter)SNVPathogenicrs886042641GRCh37Chr 2, 71709020: 71709020
39DYSFNM_001130987.1(DYSF): c.682dupC (p.His228Profs)duplicationPathogenicrs886042680GRCh37Chr 2, 71740974: 71740974
40DYSFNM_001130987.1(DYSF): c.3421_3422delAA (p.Lys1141Glufs)deletionPathogenicrs748542672GRCh37Chr 2, 71816741: 71816742
41DYSFNM_001130987.1(DYSF): c.3566_3567delCT (p.Ser1189Phefs)deletionPathogenicrs886042827GRCh37Chr 2, 71817410: 71817411
42DYSFNM_001130987.1(DYSF): c.2929C> T (p.Arg977Trp)SNVPathogenicrs202218890GRCh37Chr 2, 71797014: 71797014
43DYSFNM_003494.3(DYSF): c.3031+2T> CSNVPathogenicrs886042951GRCh37Chr 2, 71797466: 71797466
44DYSFNM_003494.3(DYSF): c.792+2T> ASNVPathogenicrs886042970GRCh37Chr 2, 71742883: 71742883
45DYSFNM_001130987.1(DYSF): c.4282C> T (p.Gln1428Ter)SNVPathogenicrs769721856GRCh37Chr 2, 71839831: 71839831
46DYSFNM_001130987.1(DYSF): c.1577-1G> ASNVPathogenicrs189923208GRCh37Chr 2, 71778170: 71778170
47DYSFNM_001130987.1(DYSF): c.3757-2A> GSNVPathogenicrs886043149GRCh37Chr 2, 71827830: 71827830
48DYSFNM_003494.3(DYSF): c.2372dupC (p.Asp792Glyfs)duplicationPathogenicrs886043163GRCh37Chr 2, 71791204: 71791204
49DYSFNM_001130987.1(DYSF): c.5004-1G> ASNVPathogenicrs886043170GRCh37Chr 2, 71891397: 71891397
50DYSFNM_001130987.1(DYSF): c.5419C> T (p.Arg1807Trp)SNVLikely pathogenicrs746243052GRCh37Chr 2, 71894607: 71894607
51DYSFNM_001130987.1(DYSF): c.1450-3_1450-2delCAdeletionPathogenicrs886043328GRCh37Chr 2, 71762395: 71762396
52DYSFNM_001130987.1(DYSF): c.410delC (p.Pro137Leufs)deletionPathogenicrs886043342GRCh37Chr 2, 71739001: 71739001
53DYSFNM_003494.3(DYSF): c.4685dupT (p.Met1562Ilefs)duplicationPathogenicrs886043465GRCh37Chr 2, 71886054: 71886054
54DYSFNM_001130987.1(DYSF): c.6333delC (p.Met2112Terfs)deletionPathogenicrs886043884GRCh37Chr 2, 71913595: 71913595
55DYSFNM_003494.3(DYSF): c.5529G> A (p.Trp1843Ter)SNVPathogenicrs886043966GRCh37Chr 2, 71896738: 71896738
56DYSFNM_001130987.1(DYSF): c.1576+1G> ASNVPathogenicrs886044258GRCh37Chr 2, 71766370: 71766370
57DYSFNM_001130987.1(DYSF): c.1167delC (p.Ser390Leufs)deletionPathogenicrs886044355GRCh37Chr 2, 71753367: 71753367
58DYSFNM_001130987.1(DYSF): c.2217-1G> TSNVPathogenicrs886044379GRCh37Chr 2, 71788881: 71788881
59DYSFNM_003494.3(DYSF): c.1517C> G (p.Ser506Ter)SNVPathogenicrs886044410GRCh37Chr 2, 71776516: 71776516
60DYSFNM_001130987.1(DYSF): c.4462C> T (p.Gln1488Ter)SNVPathogenicrs886044411GRCh37Chr 2, 71840538: 71840538
61DYSFNM_001130987.1(DYSF): c.2217-2A> GSNVLikely pathogenicrs747289205GRCh37Chr 2, 71788880: 71788880
62DYSFNM_001130987.1(DYSF): c.5200C> T (p.Gln1734Ter)SNVLikely pathogenicrs886044422GRCh37Chr 2, 71892317: 71892317
63DYSFNM_001130987.1(DYSF): c.3779G> A (p.Arg1260His)SNVLikely pathogenicrs2303603GRCh37Chr 2, 71827854: 71827854
64DYSFNM_001130987.1(DYSF): c.1576G> T (p.Val526Leu)SNVPathogenicrs886044537GRCh37Chr 2, 71766369: 71766369
65DYSFNM_003494.3: c.3517dupTduplicationLikely pathogenicChr na, -1: -1
66DYSFNM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter)SNVPathogenicrs121908953GRCh37Chr 2, 71780201: 71780201
67DYSFNM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys)SNVPathogenicrs121908955GRCh37Chr 2, 71909727: 71909727
68DYSFNM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs)indelPathogenicrs786200896GRCh37Chr 2, 71887767: 71887771
69DYSFNM_003494.3(DYSF): c.5039_5057+4dup23duplicationPathogenicrs786205082GRCh38Chr 2, 71664420: 71664442
70DYSFNM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg)SNVPathogenicrs121908956GRCh37Chr 2, 71791204: 71791204
71DYSFNM_003494.3(DYSF): c.5057+5G> ASNVPathogenicrs745891180GRCh38Chr 2, 71664443: 71664443
72DYSFNM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp)indelPathogenicrs121908957GRCh37Chr 2, 71709064: 71709065
73DYSFNM_001130978.1(DYSF): c.2997G> T (p.Trp999Cys)SNVPathogenicrs28937581GRCh37Chr 2, 71797430: 71797430
74DYSFNM_001130978.1(DYSF): c.3137G> A (p.Arg1046His)SNVPathogenicrs121908958GRCh37Chr 2, 71797834: 71797834
75DYSFNM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)SNVPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372
76DYSFNM_001130978.1(DYSF): c.1873G> T (p.Asp625Tyr)SNVPathogenicrs121908960GRCh37Chr 2, 71780261: 71780261
77DYSFNM_001130978.1(DYSF): c.5264A> G (p.Glu1755Gly)SNVPathogenicrs121908961GRCh37Chr 2, 71894506: 71894506
78DYSFNM_003494.3(DYSF): c.3443-33A> GSNVPathogenicrs786205083GRCh38Chr 2, 71590178: 71590178
79DYSFNM_001130978.1(DYSF): c.895G> A (p.Gly299Arg)SNVPathogenicrs121908963GRCh37Chr 2, 71744158: 71744158
80DYSFNM_003494.3(DYSF): c.1285-2A> GSNVPathogenicrs786200897GRCh37Chr 2, 71762149: 71762149
81DYSFNM_003494.3(DYSF): c.855+1delGdeletionPathogenicrs786200898GRCh37Chr 2, 71743373: 71743373
82DYSFNM_003494.3(DYSF): c.2779delG (p.Ala927Leufs)deletionPathogenicrs727503909GRCh37Chr 2, 71795437: 71795437
83DYSFNM_003494.3(DYSF): c.1053+1G> ASNVPathogenicrs398123763GRCh37Chr 2, 71748035: 71748035
84DYSFNM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs)deletionPathogenicrs398123764GRCh37Chr 2, 71708031: 71708032
85DYSFNM_003494.3(DYSF): c.1284+2T> CSNVPathogenicrs398123765GRCh37Chr 2, 71755533: 71755533
86DYSFNM_003494.3(DYSF): c.1368C> A (p.Cys456Ter)SNVPathogenicrs202044973GRCh37Chr 2, 71762412: 71762412
87DYSFNM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs)duplicationPathogenicrs398123767GRCh37Chr 2, 71762436: 71762436
88DYSFNM_003494.3(DYSF): c.1398-1G> ASNVPathogenicrs398123768GRCh37Chr 2, 71766286: 71766286
89DYSFNM_003494.3(DYSF): c.1398-2A> GSNVPathogenicrs398123769GRCh37Chr 2, 71766285: 71766285
90DYSFNM_003494.3(DYSF): c.1481-1G> ASNVPathogenicrs398123770GRCh37Chr 2, 71776479: 71776479
91DYSFNM_003494.3(DYSF): c.1638+2T> ASNVPathogenicrs398123771GRCh37Chr 2, 71778288: 71778288
92DYSFNM_003494.3(DYSF): c.1642delG (p.Glu548Lysfs)deletionPathogenicrs398123772GRCh37Chr 2, 71778740: 71778740
93DYSFNM_003494.3(DYSF): c.1663C> T (p.Arg555Trp)SNVPathogenicrs377735262GRCh37Chr 2, 71778761: 71778761
94DYSFNM_003494.3(DYSF): c.2311C> T (p.Gln771Ter)SNVPathogenicrs398123773GRCh37Chr 2, 71789030: 71789030
95DYSFNM_003494.3(DYSF): c.2869C> T (p.Gln957Ter)SNVPathogenicrs398123776GRCh37Chr 2, 71797008: 71797008
96DYSFNM_003494.3(DYSF): c.2870_2874delAGACC (p.Gln957Profs)deletionPathogenicrs398123777GRCh37Chr 2, 71797009: 71797013
97DYSFNM_003494.3(DYSF): c.3327_3328delGT (p.Phe1110Cysfs)deletionPathogenicrs398123780GRCh37Chr 2, 71801480: 71801481
98DYSFNM_003494.3(DYSF): c.3444_3445delTGinsAA (p.Tyr1148Ter)indelPathogenicrs398123781GRCh37Chr 2, 71817342: 71817343
99DYSFNM_003494.3(DYSF): c.353delT (p.Val118Alafs)deletionPathogenicrs398123782GRCh37Chr 2, 71738947: 71738947
100DYSFNM_003494.3(DYSF): c.3641delC (p.Pro1214Argfs)deletionPathogenicrs398123783GRCh37Chr 2, 71825814: 71825814
101DYSFNM_003494.3(DYSF): c.393_394delCC (p.Leu132Valfs)deletionPathogenicrs398123784GRCh37Chr 2, 71738987: 71738988
102DYSFNM_003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs)duplicationPathogenicrs398123786GRCh37Chr 2, 71839803: 71839803
103DYSFNM_003494.3(DYSF): c.4253G> A (p.Gly1418Asp)SNVLikely pathogenic, Pathogenicrs398123787GRCh37Chr 2, 71839856: 71839856
104DYSFNM_003494.3(DYSF): c.4756C> T (p.Arg1586Ter)SNVPathogenicrs398123789GRCh37Chr 2, 71886125: 71886125
105DYSFNM_003494.3(DYSF): c.4894G> T (p.Glu1632Ter)SNVPathogenicrs398123790GRCh37Chr 2, 71891405: 71891405
106DYSFNM_003494.3(DYSF): c.5341-2A> CSNVPathogenicrs398123792GRCh37Chr 2, 71895882: 71895882
107DYSFNM_003494.3(DYSF): c.5429+1G> TSNVPathogenicrs398123793GRCh37Chr 2, 71895973: 71895973
108DYSFNM_003494.3(DYSF): c.5497G> T (p.Glu1833Ter)SNVPathogenicrs201592500GRCh37Chr 2, 71896309: 71896309
109DYSFNM_003494.3(DYSF): c.5509G> A (p.Asp1837Asn)SNVPathogenicrs398123794GRCh37Chr 2, 71896321: 71896321
110DYSFNM_003494.3(DYSF): c.5644C> T (p.Gln1882Ter)SNVPathogenicrs398123795GRCh37Chr 2, 71896853: 71896853
111DYSFNM_003494.3(DYSF): c.5698_5699delAG (p.Ser1900Glnfs)deletionPathogenicrs398123796GRCh37Chr 2, 71901357: 71901358
112DYSFNM_003494.3(DYSF): c.5836_5839delCAGC (p.Gln1946Trpfs)deletionPathogenicrs398123797GRCh37Chr 2, 71906255: 71906258
113DYSFNM_003494.3(DYSF): c.5946+1G> ASNVPathogenicrs398123798GRCh37Chr 2, 71906366: 71906366
114DYSFNM_003494.3(DYSF): c.5979dupA (p.Glu1994Argfs)duplicationPathogenicrs398123799GRCh37Chr 2, 71908163: 71908163
115DYSFNM_003494.3(DYSF): c.610C> T (p.Arg204Ter)SNVPathogenicrs373585652GRCh37Chr 2, 71740998: 71740998
116DYSFNM_003494.3(DYSF): c.663+1G> CSNVPathogenicrs398123800GRCh37Chr 2, 71741052: 71741052
117DYSFNM_003494.3(DYSF): c.937+1G> ASNVPathogenicrs201869739GRCh37Chr 2, 71747339: 71747339

Expression for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2b

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LifeMap Discovery
Genes differentially expressed in tissues of Muscular Dystrophy, Limb-Girdle, Type 2b patients vs. healthy controls: 34
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1MYH3myosin, heavy chain 3, skeletal muscle, embryonicSkeletal Muscle+4.550.000

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

Pathways for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2b

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GO Terms for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2b

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

idNameGO IDScoreTop Affiliating Genes
1sarcoglycan complexGO:001601210.1SGCA, SGCB
2T-tubuleGO:00303159.9CAPN3, CAV3, DYSF
3dystroglycan complexGO:00160119.8SGCA, SGCB
4I bandGO:00316749.7TCAP, TTN
5myofibrilGO:00300169.7CAPN3, DMD
6membrane raftGO:00451219.0CAV3, DMD, SGCA
7dystrophin-associated glycoprotein complexGO:00160108.0CAV3, DMD, FKRP, SGCA, SGCB
8sarcolemmaGO:00423837.4CAV3, DMD, DYSF, FKRP, MYOT, SGCA
9Z discGO:00300187.2CAPN3, CAV3, DMD, MYOT, TCAP, TTN

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of proteolysisGO:004586210.2CAPN3, TRIM32
2cardiac muscle cell developmentGO:005501310.1CAV3, SGCB
3plasma membrane repairGO:000177810.0CAV3, DYSF, MYOF
4skeletal muscle thin filament assemblyGO:00302409.9TCAP, TTN
5skeletal muscle myosin thick filament assemblyGO:00302419.9TCAP, TTN
6sarcomerogenesisGO:00487699.9TCAP, TTN
7cardiac muscle tissue morphogenesisGO:00550089.8TCAP, TTN
8membrane organizationGO:00610249.8SGCA, SGCB
9nucleus localizationGO:00516479.7CAV3, DMD
10response to muscle stretchGO:00359949.7DMD, TCAP
11cardiac myofibril assemblyGO:00550039.7TCAP, TTN
12cardiac muscle hypertrophyGO:00033009.7TCAP, TTN
13cardiac muscle fiber developmentGO:00487399.7TCAP, TTN
14regulation of skeletal muscle contractionGO:00148199.5CAV3, DMD
15regulation of heart rateGO:00020279.5CAV3, DMD
16muscle fiber developmentGO:00487479.4DMD, SGCB
17sarcomere organizationGO:00452149.4CAPN3, TCAP, TTN
18detection of muscle stretchGO:00359959.3CAV3, TCAP, TTN
19muscle cell cellular homeostasisGO:00467169.1CAPN3, CAV3, DMD, TRIM32
20muscle filament slidingGO:00300498.9DMD, TCAP, TTN
21cardiac muscle contractionGO:00600488.6DMD, TCAP, TTN
22muscle organ developmentGO:00075178.2CAPN3, CAV3, DMD, SGCA, SGCB
23muscle contractionGO:00069367.4CAV3, DYSF, MYOF, MYOT, SGCA, TTN

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

idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:003143210.1CAPN3, TCAP
2protein complex scaffoldGO:00329479.9CAPN3, CAV3
3nitric-oxide synthase bindingGO:00509989.5CAV3, DMD
4protein self-associationGO:00436219.4TRIM32, TTN
5myosin bindingGO:00170229.3DMD, TRIM32
6structural constituent of muscleGO:00083077.7CAPN3, DMD, MYOT, TCAP, TTN

Sources for Muscular Dystrophy, Limb-Girdle, Type 2b

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet