LGMDR8
MCID: MSC172
MIFTS: 45

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 (LGMDR8)

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 58 76
Sarcotubular Myopathy 58 54 60 76 30 6
Lgmd2h 58 54 60 76 56
Muscular Dystrophy, Limb-Girdle, Type 2h 58 76 13
Muscular Dystrophy Hutterite Type 54 76
Lgmdr8 58 76
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 60
Limb-Girdle Muscular Dystrophy Due to Trim32 Deficiency 60
Muscular Dystrophy, Limb-Girdle, Type 2h; Lgmd2h 58
Dystrophy, Muscular, Limb-Girdle, Type 2h 41
Limb-Girdle Muscular Dystrophy Type 2h 54
Muscular Dystrophy Limb-Girdle Type 2h 54
Muscular Dystrophy, Hutterite Type 58
Limb-Girdle Muscular Dystrophy 2h 76

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive limb-girdle muscular dystrophy type 2h
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood;

OMIM:

58
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:

33
muscular dystrophy, limb-girdle, autosomal recessive 8:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 254110
MeSH 45 D049288
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C0270968
Orphanet 60 ORPHA1878
MedGen 43 C0270968

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

NIH Rare Diseases : 54 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 waddling gait and increased variability in muscle fiber diameter

UniProtKB/Swiss-Prot : 76 Muscular dystrophy, limb-girdle, autosomal recessive 8: 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 25 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 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

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 29.6 CAPN3 DYSF TTN
3 muscular dystrophy 28.6 CAPN3 DYSF FKRP TCAP TRIM32 TTN
4 muscular dystrophy-dystroglycanopathy , type c, 5 28.6 CAPN3 DYSF FKRP TCAP TRIM32 TTN
5 limb-girdle muscular dystrophy 28.6 CAPN3 DYSF FKRP TCAP TRIM32 TTN
6 reducing body myopathy 11.3
7 bardet-biedl syndrome 11 10.4
8 muscle disorders 10.4
9 paresthesia 10.1 CAPN3 FKRP
10 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 CAPN3 FKRP
11 familial isolated dilated cardiomyopathy 10.0 TCAP TTN
12 tibial muscular dystrophy 10.0 CAPN3 TTN
13 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 DYSF FKRP
14 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 CAPN3 DYSF
15 autosomal recessive limb-girdle muscular dystrophy type 2c 9.9 CAPN3 DYSF
16 autosomal recessive limb-girdle muscular dystrophy type 2b 9.9 CAPN3 DYSF
17 dysferlinopathy 9.9 CAPN3 DYSF
18 muscular dystrophy, congenital, lmna-related 9.9 FKRP TTN
19 bethlem myopathy 1 9.9 CAPN3 DYSF
20 myofibrillar myopathy 9.9 TCAP TTN
21 isolated hyperckemia 9.8 CAPN3 FKRP TCAP
22 rigid spine muscular dystrophy 1 9.8 DYSF TTN
23 autosomal recessive limb-girdle muscular dystrophy type 2j 9.8 CAPN3 FKRP TTN
24 autosomal recessive limb-girdle muscular dystrophy type 2g 9.8 CAPN3 DYSF TCAP
25 autosomal recessive limb-girdle muscular dystrophy type 2d 9.7 CAPN3 DYSF FKRP
26 atrial standstill 1 9.7 FKRP TTN
27 muscle tissue disease 9.7 CAPN3 DYSF FKRP
28 miyoshi muscular dystrophy 9.7 CAPN3 DYSF TTN
29 myositis 9.7 CAPN3 DYSF TTN
30 autosomal recessive limb-girdle muscular dystrophy type 2a 9.4 CAPN3 DYSF FKRP TTN
31 autosomal recessive limb-girdle muscular dystrophy 9.3 CAPN3 DYSF FKRP TCAP TRIM32
32 muscular disease 9.2 CAPN3 DYSF FKRP TRIM32 TTN
33 muscular dystrophy, limb-girdle, autosomal recessive 6 9.0 CAPN3 DYSF FKRP TCAP TRIM32 TTN
34 muscular dystrophy, limb-girdle, autosomal recessive 7 9.0 CAPN3 DYSF FKRP TCAP TRIM32 TTN
35 muscular dystrophy, limb-girdle, autosomal recessive 2 9.0 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

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

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 waddling gait 60 33 Very frequent (99-80%) HP:0002515
2 increased variability in muscle fiber diameter 60 33 Very frequent (99-80%) HP:0003557
3 gait disturbance 60 Very frequent (99-80%)
4 facial palsy 33 HP:0010628
5 myopathy 60 Very frequent (99-80%)
6 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
7 emg abnormality 60 Very frequent (99-80%)
8 emg: myopathic abnormalities 33 HP:0003458
9 proximal muscle weakness in lower limbs 60 Very frequent (99-80%)
10 mask-like facies 60 Very frequent (99-80%)
11 pelvic girdle muscle weakness 33 HP:0003749
12 areflexia 33 HP:0001284
13 hyporeflexia 33 HP:0001265
14 tall stature 60 Frequent (79-30%)
15 neck flexor weakness 33 HP:0003722
16 muscular dystrophy 33 HP:0003560
17 gowers sign 33 HP:0003391
18 centrally nucleated skeletal muscle fibers 33 HP:0003687
19 exercise-induced myalgia 33 HP:0003738
20 calf muscle pseudohypertrophy 33 HP:0003707
21 quadriceps muscle weakness 33 HP:0003731
22 shoulder girdle muscle weakness 33 HP:0003547
23 pelvic girdle muscle atrophy 33 HP:0008988
24 shoulder girdle muscle atrophy 33 HP:0003724
25 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

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:

47
# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search 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 30 TRIM32

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

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

42
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
A population-based study of autosomal-recessive disease-causing mutations in a founder population. ( 22981120 )
2012
3
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. ( 19492423 )
2009
4
TRIM32 is an E3 ubiquitin ligase for dysbindin. ( 19349376 )
2009
5
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. ( 17994549 )
2008
6
Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I. ( 15886712 )
2005
7
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. ( 15786463 )
2005
8
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. ( 11822024 )
2002
9
Phenotypic variability in two brothers with sarcotubular myopathy. ( 10399877 )
1999
10
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:

76
# 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
# 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.1168C> T (p.Arg390Cys) single nucleotide variant Uncertain significance rs754554333 GRCh37 Chromosome 9, 119461189: 119461189
9 TRIM32 NM_012210.3(TRIM32): c.1168C> T (p.Arg390Cys) single nucleotide variant Uncertain significance rs754554333 GRCh38 Chromosome 9, 116698910: 116698910

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....