Muscular Dystrophy, Limb-Girdle, Type 2b (LGMD2B) 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 52 12 68
Lgmd2b 48 24 54 70
Limb-Girdle Muscular Dystrophy, Type 2b 35 48
Limb-Girdle Muscular Dystrophy 2b 70 27
Lgmd3 48 70
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 54
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 54
Muscular Dystrophy, Limb-Girdle, Type 3 48
Limb-Girdle Muscular Dystrophy Type 2b 24
Muscular Dystrophy Limb-Girdle Type 3 70


Orphanet epidemiological data:

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


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


External Ids:

OMIM52 253601
Orphanet54 ORPHA268
ICD10 via Orphanet31 G71.0
MedGen37 C1850889
MeSH39 D049288

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

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NIH Rare Diseases:48 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 autosomal recessive limb-girdle muscular dystrophy type 2b and dysferlinopathy, 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 Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include heart and skeletal muscle, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

UniProtKB/Swiss-Prot:70 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:52 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 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Limb-Girdle Muscular Dystrophy 2z

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

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive limb-girdle muscular dystrophy type 2b11.3
3muscular dystrophy10.6
4limb-girdle muscular dystrophy10.6
7lumbar malsegmentation short stature10.2DMD, DYSF
8sporadic hemiplegic migraine10.2CAPN3, FKRP
9deafness, autosomal recessive 18b10.2DYSF, FKRP
10cerebral hemorrhage10.2CAPN3, DYSF, SGCB
11eif2b1-related childhood ataxia with central nervous system hypomyelination/vanishing white matter10.2DMD, SGCA
12ptosis10.1CAV3, DYSF
13sudden infant death with dysgenesis of the testes syndrome10.1DMD, SGCA
14craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies10.1CAPN3, DYSF, MYOF
15ehlers-danlos syndrome, kyphoscoliotic form10.1CAPN3, DYSF, MYOF
16cardiomyopathy, dilated, 1aa, with or without lvnc10.1DMD, FKRP
17ullrich congenital muscular dystrophy 110.1CAPN3, DMD, DYSF
18dermatofibrosarcoma protuberans10.0DMD, FKRP
19cone-rod dystrophy, prph2-related10.0DMD, FKRP
20hypospadias 3, autosomal10.0CAV3, MYOT
21ceroid lipofuscinosis, neuronal, 210.0DMD, DYSF
22prosthetic joint infection10.0DMD, FKRP, SGCA
23rippling muscle disease10.0CAV3, DYSF, FKRP
24osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures10.0CAV3, DYSF, FKRP
25inflammatory bowel disease 1410.0DMD, DYSF, MYOT
26myasthenia gravis, limb-girdle10.0DMD, FKRP, SGCA
27autosomal recessive limb-girdle muscular dystrophy type 2x10.0CAPN3, DYSF, FKRP, SGCA
28myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related10.0DMD, MYOT
29sdhc-related paraganglioma and gastric stromal sarcoma10.0DMD, DYSF, SGCA, SGCB
30autosomal dominant nonsyndromic deafness10.0DMD, FKRP, SGCA
31pancreatic agenesis 110.0CAPN3, DMD, DYSF, SGCA
32autoimmune thyroid disease 29.9MYOT, TTN
33thrombocytopenia, x-linked9.9DMD, DYSF, FKRP, SGCA
34congenital myopathy9.9DMD, TTN
35autosomal recessive limb-girdle muscular dystrophy type 2f9.9CAV3, MYOT
36short-rib thoracic dysplasia 8 with or without polydactyly9.9CAV3, FKRP, MYOT
37glycogen storage disease 0, muscle9.9CAV3, DMD, FKRP
38muscular dystrophy, rigid spine, 19.9DMD, DYSF, TTN
39asthma-related traits 69.9CAPN3, DYSF, FKRP, SGCA, SGCB
40creatine phosphokinase, elevated serum9.9CAV3, DYSF, TTN
41primary cutaneous gamma/delta-positive t-cell lymphoma9.8DMD, TCAP, TTN
42celiac disease 29.8MYOT, TTN
43familial partial lipodystrophy9.8DMD, SGCA, TTN
44nonsyndromic hearing loss and deafness, mitochondrial9.8DMD, MYOT, TTN
45vulvar eccrine adenocarcinoma9.8CAPN3, DMD, DYSF, TTN
46long qt syndrome 99.7CAV3, TCAP, TTN
47myopathy, early-onset, with fatal cardiomyopathy9.7CAPN3, FKRP, MYOT, TTN
48myelofibrosis9.7CAV3, TTN
49neurodegeneration with brain iron accumulation 69.7CAPN3, DYSF, FKRP, MYOT, TCAP, TRIM32
50myopathy, spheroid body9.6CAPN3, CAV3, FKRP, MYOT, TRIM32

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 & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 2b

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


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

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase64 HP:0003236
2 emg64 HP:0003458
3 difficulty climbing stairs64 HP:0003551
4 muscle fiber splitting64 HP:0003555
5 increased variability in muscle fiber diameter64 HP:0003557
6 muscular dystrophy64 HP:0003560
7 proximal muscle weakness64 HP:0003701
8 increased connective tissue64 HP:0009025
9 difficulty running64 HP:0009046

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2b according to GeneCards Suite gene sharing:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.6CAPN3, CAV3, DMD, MYOF, SGCA, SGCB
2MP:00053767.2CAPN3, CAV3, DMD, DYSF, FKRP, SGCA
3MP:00053695.8CAPN3, CAV3, DMD, DYSF, FKRP, MYOF

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
1DeflazacortapprovedPhase 2, Phase 31314484-47-0
2Anti-Inflammatory AgentsPhase 2, Phase 310729
3Immunosuppressive AgentsPhase 2, Phase 313086
4VaccinesPhase 16611

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 2b27
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:

Heart, Skeletal muscle

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:

70 (show all 25)
id Symbol AA change Variation ID SNP ID

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)SNVPathogenicrs727503911GRCh38Chr 2, 71600831: 71600831
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.1931-2delAdeletionPathogenicrs774047700GRCh37Chr 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)SNVPathogenicrs766016391GRCh38Chr 2, 71643988: 71643988
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)SNVPathogenic/ Likely 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)SNVPathogenic/ Likely pathogenicrs863225021GRCh37Chr 2, 71892311: 71892311
21DYSFNM_ 003494.3(DYSF): c.2643+1G> ASNV, CompoundHeterozygotePathogenic/ Likely 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)SNVPathogenic/ Likely 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_ 003494.3(DYSF): c.5668-7G> 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(DYSF): c.3517dupT (p.Ser1173Phefs)duplicationLikely pathogenicrs1057516724GRCh37Chr 2, 71817415: 71817415
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)SNVPathogenic/ Likely 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: 35
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
1dystroglycan complexGO:001601110.6SGCA, SGCB
2sarcoglycan complexGO:001601210.5SGCA, SGCB
3myofibrilGO:003001610.4CAPN3, DMD
4I bandGO:003167410.2TCAP, TTN
5membrane raftGO:00451219.8CAV3, DMD, SGCA
6T-tubuleGO:00303159.8CAPN3, CAV3, DYSF
7dystrophin-associated glycoprotein complexGO:00160109.0CAV3, DMD, FKRP, SGCA, SGCB
8sarcolemmaGO:00423838.0CAV3, DMD, DYSF, FKRP, MYOT, SGCA
9Z discGO:00300187.4CAPN3, CAV3, DMD, MYOT, TCAP, TTN
10plasma membraneGO:00058867.3CAPN3, CAV3, DMD, DYSF, FKRP, MYOF

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of proteolysisGO:004586210.3CAPN3, TRIM32
2muscle fiber developmentGO:004874710.3DMD, SGCB
3cardiac muscle cell developmentGO:005501310.2CAV3, SGCB
4response to muscle stretchGO:003599410.2DMD, TCAP
5response to denervation involved in regulation of muscle adaptationGO:001489410.1DMD, SGCA
6cardiac muscle fiber developmentGO:004873910.0TCAP, TTN
7cardiac muscle hypertrophyGO:000330010.0TCAP, TTN
8cardiac muscle tissue morphogenesisGO:005500810.0TCAP, TTN
9cardiac myofibril assemblyGO:005500310.0TCAP, TTN
10myoblast fusionGO:000752010.0CAV3, MYOF
11nucleus localizationGO:00516479.9CAV3, DMD
12regulation of heart rateGO:00020279.9CAV3, DMD
13regulation of skeletal muscle contractionGO:00148199.9CAV3, DMD
14sarcomerogenesisGO:00487699.8TCAP, TTN
15skeletal muscle myosin thick filament assemblyGO:00302419.7TCAP, TTN
16plasma membrane repairGO:00017789.7CAV3, DYSF, MYOF
17skeletal muscle thin filament assemblyGO:00302409.7TCAP, TTN
18skeletal muscle tissue regenerationGO:00434039.6DMD, SGCA
19cardiac muscle contractionGO:00600489.5DMD, TCAP, TTN
20muscle filament slidingGO:00300499.5DMD, TCAP, TTN
21sarcomere organizationGO:00452149.4CAPN3, TCAP, TTN
22detection of muscle stretchGO:00359959.4CAV3, TCAP, TTN
23muscle cell cellular homeostasisGO:00467169.3CAPN3, CAV3, DMD, TRIM32
24muscle organ developmentGO:00075178.9CAPN3, CAV3, DMD, SGCA, SGCB
25muscle contractionGO:00069368.1CAV3, 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
1myosin bindingGO:001702210.1DMD, TRIM32
2protein complex scaffoldGO:003294710.0CAPN3, CAV3
3nitric-oxide synthase bindingGO:00509989.9CAV3, DMD
4titin bindingGO:00314329.8CAPN3, TCAP
5structural constituent of muscleGO:00083078.3CAPN3, DMD, MYOT, TCAP, TTN

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

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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet