LGMD2H
MCID: MSC172
MIFTS: 45

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 (LGMD2H)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 57
Sarcotubular Myopathy 57 53 59 75 29 6
Lgmd2h 57 53 59 75 55
Muscular Dystrophy, Limb-Girdle, Type 2h 57 13
Muscular Dystrophy Hutterite Type 53 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 59
Limb-Girdle Muscular Dystrophy Due to Trim32 Deficiency 59
Muscular Dystrophy, Limb-Girdle, Type 2h; Lgmd2h 57
Dystrophy, Muscular, Limb-Girdle, Type 2h 40
Limb-Girdle Muscular Dystrophy Type 2h 53
Muscular Dystrophy Limb-Girdle Type 2h 53
Muscular Dystrophy, Hutterite Type 57
Limb-Girdle Muscular Dystrophy 2h 75
Lgmdr8 57

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2h
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
highly variable phenotype and severity
onset usually in childhood (1 to 9 years of age)
high frequency in hutterite population


HPO:

32
muscular dystrophy, limb-girdle, autosomal recessive 8:
Onset and clinical course phenotypic variability slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 254110
Orphanet 59 ORPHA1878
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C0270968
MedGen 42 C0270968
MeSH 44 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1878Disease definitionAutosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.Visit the Orphanet disease page for more resources.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8, also known as sarcotubular myopathy, is related to autosomal recessive limb-girdle muscular dystrophy type 2h and myopathy, and has symptoms including waddling gait, exercise-induced myalgia and quadriceps muscle weakness. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 is TRIM32 (Tripartite Motif Containing 32), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are elevated serum creatine phosphokinase and waddling gait

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2H: An autosomal recessive degenerative myopathy characterized by pelvic girdle, shoulder girdle and quadriceps muscle weakness. Clinical phenotype and severity are highly variable. Disease progression is slow and most patients remain ambulatory into the sixth decade of life.

Description from OMIM: 254110

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

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 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2h 31.5 CAPN3 FKRP TRIM32
2 myopathy 29.7 CAPN3 DYSF TTN
3 muscular dystrophy 29.1 CAPN3 DYSF FKRP TCAP TRIM32 TTN
4 limb-girdle muscular dystrophy 29.1 CAPN3 DYSF FKRP TCAP TRIM32 TTN
5 reducing body myopathy 11.3
6 paresthesia 10.0 CAPN3 FKRP
7 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 CAPN3 FKRP
8 familial isolated dilated cardiomyopathy 10.0 TCAP TTN
9 tibial muscular dystrophy 10.0 CAPN3 TTN
10 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 DYSF FKRP
11 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 CAPN3 DYSF
12 autosomal dominant limb-girdle muscular dystrophy type 1c 10.0 DYSF FKRP
13 autosomal recessive limb-girdle muscular dystrophy type 2c 10.0 CAPN3 DYSF
14 autosomal recessive limb-girdle muscular dystrophy type 2b 9.9 CAPN3 DYSF
15 dysferlinopathy 9.9 CAPN3 DYSF
16 muscular dystrophy, congenital, lmna-related 9.9 FKRP TTN
17 autosomal dominant limb-girdle muscular dystrophy type 1a 9.9 CAPN3 FKRP TRIM32
18 bethlem myopathy 1 9.9 CAPN3 DYSF
19 myofibrillar myopathy 9.9 TCAP TTN
20 isolated hyperckemia 9.9 CAPN3 FKRP TCAP
21 rigid spine muscular dystrophy 1 9.9 DYSF TTN
22 autosomal recessive limb-girdle muscular dystrophy type 2j 9.9 CAPN3 FKRP TTN
23 autosomal recessive limb-girdle muscular dystrophy type 2g 9.9 CAPN3 DYSF TCAP
24 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 CAPN3 DYSF FKRP
25 muscle tissue disease 9.8 CAPN3 DYSF FKRP
26 atrial standstill 1 9.8 FKRP TTN
27 miyoshi muscular dystrophy 9.8 CAPN3 DYSF TTN
28 myositis 9.8 CAPN3 DYSF TTN
29 autosomal recessive limb-girdle muscular dystrophy type 2a 9.6 CAPN3 DYSF FKRP TTN
30 autosomal recessive limb-girdle muscular dystrophy 9.5 CAPN3 DYSF FKRP TCAP TRIM32
31 muscular disease 9.5 CAPN3 DYSF FKRP TRIM32 TTN
32 muscular dystrophy, limb-girdle, autosomal recessive 6 9.4 CAPN3 DYSF FKRP TCAP TRIM32 TTN
33 muscular dystrophy, limb-girdle, autosomal recessive 7 9.4 CAPN3 DYSF FKRP TCAP TRIM32 TTN
34 muscular dystrophy-dystroglycanopathy , type c, 5 9.4 CAPN3 DYSF FKRP TCAP TRIM32 TTN
35 muscular dystrophy, limb-girdle, autosomal recessive 2 9.4 CAPN3 DYSF FKRP TCAP TRIM32 TTN

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
waddling gait
pelvic girdle muscle weakness
calf muscle pseudohypertrophy
quadriceps muscle weakness
shoulder girdle muscle weakness
more
Head And Neck Face:
facial muscle weakness
'flat smile'

Head And Neck Neck:
neck flexor muscle weakness

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

254110

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 59 32 Very frequent (99-80%) HP:0003236
2 waddling gait 59 32 Very frequent (99-80%) HP:0002515
3 increased variability in muscle fiber diameter 59 32 Very frequent (99-80%) HP:0003557
4 gait disturbance 59 Very frequent (99-80%)
5 facial palsy 32 HP:0010628
6 myopathy 59 Very frequent (99-80%)
7 emg abnormality 59 Very frequent (99-80%)
8 proximal muscle weakness in lower limbs 59 Very frequent (99-80%)
9 mask-like facies 59 Very frequent (99-80%)
10 pelvic girdle muscle weakness 32 HP:0003749
11 areflexia 32 HP:0001284
12 hyporeflexia 32 HP:0001265
13 tall stature 59 Frequent (79-30%)
14 muscular dystrophy 32 HP:0003560
15 neck flexor weakness 32 HP:0003722
16 gowers sign 32 HP:0003391
17 centrally nucleated skeletal muscle fibers 32 HP:0003687
18 exercise-induced myalgia 32 HP:0003738
19 calf muscle pseudohypertrophy 32 HP:0003707
20 quadriceps muscle weakness 32 HP:0003731
21 shoulder girdle muscle weakness 32 HP:0003547
22 pelvic girdle muscle atrophy 32 HP:0008988
23 shoulder girdle muscle atrophy 32 HP:0003724
24 emg 32 HP:0003458

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8:


waddling gait, exercise-induced myalgia, quadriceps muscle weakness, facial paresis

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 DYSF FKRP PRKN TCAP TRIM32 TTN
2 cardiovascular system MP:0005385 9.55 CAPN3 FKRP PRKN TCAP TTN
3 homeostasis/metabolism MP:0005376 9.5 CAPN3 DYSF FKRP PRKN TCAP TRIM32
4 muscle MP:0005369 9.17 CAPN3 DYSF FKRP PRKN TCAP TRIM32

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8:

# Genetic test Affiliating Genes
1 Sarcotubular Myopathy 29 TRIM32

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8:

41
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8:

# Title Authors Year
1
Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite. ( 23142638 )
2013
2
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. ( 19492423 )
2009
3
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. ( 15786463 )
2005
4
Phenotypic variability in two brothers with sarcotubular myopathy. ( 10399877 )
1999
5
Sarcotubular myopathy. A newly recognized, benign, congenital, familial muscle disease. ( 4269389 )
1973

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8:

75
# Symbol AA change Variation ID SNP ID
1 TRIM32 p.Asp487Asn VAR_018725 rs111033570
2 TRIM32 p.Arg394His VAR_042939 rs121434447

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh37 Chromosome 9, 119461480: 119461480
2 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh38 Chromosome 9, 116699201: 116699201
3 TRIM32 TRIM32, 1-BP DEL, 1559C deletion Pathogenic
4 TRIM32 NM_012210.3(TRIM32): c.1181G> A (p.Arg394His) single nucleotide variant Uncertain significance rs121434447 GRCh37 Chromosome 9, 119461202: 119461202
5 TRIM32 NM_012210.3(TRIM32): c.1181G> A (p.Arg394His) single nucleotide variant Uncertain significance rs121434447 GRCh38 Chromosome 9, 116698923: 116698923
6 TRIM32 NM_012210.3(TRIM32): c.404C> T (p.Thr135Ile) single nucleotide variant Uncertain significance rs141953092 GRCh37 Chromosome 9, 119460425: 119460425
7 TRIM32 NM_012210.3(TRIM32): c.404C> T (p.Thr135Ile) single nucleotide variant Uncertain significance rs141953092 GRCh38 Chromosome 9, 116698146: 116698146
8 TRIM32 NM_012210.3(TRIM32): c.509T> A (p.Leu170Ter) single nucleotide variant Pathogenic rs886044692 GRCh37 Chromosome 9, 119460530: 119460530
9 TRIM32 NM_012210.3(TRIM32): c.509T> A (p.Leu170Ter) single nucleotide variant Pathogenic rs886044692 GRCh38 Chromosome 9, 116698251: 116698251
10 TRIM32 NM_012210.3(TRIM32): c.116_122delGTGGCCA (p.Cys39Leufs) deletion Likely pathogenic GRCh38 Chromosome 9, 116697858: 116697864
11 TRIM32 NM_012210.3(TRIM32): c.116_122delGTGGCCA (p.Cys39Leufs) deletion Likely pathogenic GRCh37 Chromosome 9, 119460137: 119460143
12 TRIM32 NM_012210.3(TRIM32): c.691delG (p.Ala231Glnfs) deletion Pathogenic/Likely pathogenic rs747685252 GRCh38 Chromosome 9, 116698433: 116698433
13 TRIM32 NM_012210.3(TRIM32): c.691delG (p.Ala231Glnfs) deletion Pathogenic/Likely pathogenic rs747685252 GRCh37 Chromosome 9, 119460712: 119460712

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.8 CAPN3 FKRP PRKN TCAP TRIM32 TTN
2 sarcolemma GO:0042383 9.37 DYSF FKRP
3 sarcomere GO:0030017 9.26 TCAP TTN
4 T-tubule GO:0030315 9.16 CAPN3 DYSF
5 I band GO:0031674 8.96 TCAP TTN
6 Z disc GO:0030018 8.8 CAPN3 TCAP TTN

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.59 CAPN3 TTN
2 positive regulation of protein catabolic process GO:0045732 9.58 PRKN TRIM32
3 fat cell differentiation GO:0045444 9.58 DYSF TRIM32
4 response to calcium ion GO:0051592 9.57 CAPN3 TTN
5 protein K48-linked ubiquitination GO:0070936 9.56 PRKN TRIM32
6 cardiac muscle contraction GO:0060048 9.55 TCAP TTN
7 protein destabilization GO:0031648 9.54 CAPN3 PRKN
8 muscle filament sliding GO:0030049 9.52 TCAP TTN
9 cardiac muscle tissue morphogenesis GO:0055008 9.51 TCAP TTN
10 muscle cell cellular homeostasis GO:0046716 9.49 CAPN3 TRIM32
11 cardiac myofibril assembly GO:0055003 9.48 TCAP TTN
12 positive regulation of proteolysis GO:0045862 9.46 CAPN3 TRIM32
13 cardiac muscle fiber development GO:0048739 9.43 TCAP TTN
14 skeletal muscle thin filament assembly GO:0030240 9.4 TCAP TTN
15 cardiac muscle hypertrophy GO:0003300 9.37 TCAP TTN
16 skeletal muscle myosin thick filament assembly GO:0030241 9.32 TCAP TTN
17 positive regulation of tumor necrosis factor-mediated signaling pathway GO:1903265 9.26 PRKN TRIM32
18 detection of muscle stretch GO:0035995 9.16 TCAP TTN
19 sarcomerogenesis GO:0048769 8.96 TCAP TTN
20 sarcomere organization GO:0045214 8.8 CAPN3 TCAP TTN

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin binding GO:0043130 9.26 PRKN TRIM32
2 protein self-association GO:0043621 9.16 TRIM32 TTN
3 titin binding GO:0031432 8.96 CAPN3 TCAP
4 structural constituent of muscle GO:0008307 8.8 CAPN3 TCAP TTN

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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