MCID: MSC119
MIFTS: 26

Muscular Dystrophy, Limb-Girdle, Type 2h malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Metabolic diseases categories

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

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MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2h, also known as sarcotubular myopathy, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including mask-like facies, gait disturbance and myopathy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2h is TRIM32 (tripartite motif containing 32). Affiliated tissues include skeletal muscle.

Description from OMIM:45 254110

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

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 60UMLS, 47Orphanet, 43Novoseek, 20GeneTests, 22GTR, 26ICD10 via Orphanet
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Muscular Dystrophy, Limb-Girdle, Type 2h, Aliases & Descriptions:

Name: Muscular Dystrophy, Limb-Girdle, Type 2h 45 10
Sarcotubular Myopathy 41 47 22
Lgmd2h 41 43 47
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 41 47
 
Limb-Girdle Muscular Dystrophy Due to Trim32 Deficiency 41 47
Limb-Girdle Muscular Dystrophy Type 2h 41 60
Muscular Dystrophy Limb-Girdle Type 2h 41 20
Muscular Dystrophy Hutterite Type 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
sarcotubular myopathy:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM45 254110
Orphanet47 1878
ICD10 via Orphanet26 G71.0

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

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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 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
Muscular Dystrophy, Limb-Girdle, Type Ic Limb-Girdle Muscular Dystrophies, Autosomal Dominant
Limb-Girdle Muscular Dystrophy Type 1d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k

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

idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy10.8
2muscular dystrophy10.8
3muscular dystrophy, limb-girdle, type 2a10.1
4myopathy10.1

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

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Symptoms by clinical synopsis from OMIM:

254110

Clinical features from OMIM:

254110

Symptoms:

 47 (show all 7)
  • expressionless face/amimia
  • abnormal gait
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • autosomal recessive inheritance
  • tall stature/gigantism/growth acceleration

HPO human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2h:

(show all 26)
id Description Frequency HPO Source Accession
1 mask-like facies hallmark (90%) HP:0000298
2 gait disturbance hallmark (90%) HP:0001288
3 myopathy hallmark (90%) HP:0003198
4 emg abnormality hallmark (90%) HP:0003457
5 tall stature typical (50%) HP:0000098
6 autosomal recessive inheritance HP:0000007
7 hyporeflexia HP:0001265
8 areflexia HP:0001284
9 waddling gait HP:0002515
10 elevated serum creatine phosphokinase HP:0003236
11 gowers sign HP:0003391
12 emg HP:0003458
13 shoulder girdle muscle weakness HP:0003547
14 increased variability in muscle fiber diameter HP:0003557
15 muscular dystrophy HP:0003560
16 slow progression HP:0003677
17 centrally nucleated skeletal muscle fibers HP:0003687
18 calf muscle pseudohypertrophy HP:0003707
19 neck flexor weakness HP:0003722
20 shoulder girdle muscle atrophy HP:0003724
21 quadriceps muscle weakness HP:0003731
22 exercise-induced myalgia HP:0003738
23 pelvic girdle muscle weakness HP:0003749
24 phenotypic variability HP:0003812
25 pelvic girdle muscle atrophy HP:0008988
26 facial palsy HP:0010628

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

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy, Limb-Girdle, Type 2h

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

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

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2h20 TRIM32
2 Sarcotubular Myopathy22

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

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

31
Skeletal muscle

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

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

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

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

62
id Symbol AA change Variation ID SNP ID
1TRIM32p.Asp487AsnVAR_018725
2TRIM32p.Arg394HisVAR_042939

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1NM_012210.3(TRIM32): c.1459G> A (p.Asp487Asn)single nucleotide variantPathogenicrs111033570GRCh37Chr 9, 119461480: 119461480
2TRIM32TRIM32, 1-BP DEL, 1559CdeletionPathogenic
3NM_012210.3(TRIM32): c.1181G> A (p.Arg394His)single nucleotide variantPathogenicrs121434447GRCh37Chr 9, 119461202: 119461202

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

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

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

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Compounds for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2h

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

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Products for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2h

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet