MRRSDC
MCID: MYP152
MIFTS: 32

Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures (MRRSDC)

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

Aliases & Classifications for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint...

MalaCards integrated aliases for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures:

Name: Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 57 73
Muscular Dystrophy, Limb-Girdle, Type 2y 57 73 29 6
Lgmd2y 57 58 73
Muscular Dystrophy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 57 29
Mrrsdc 57 73
Autosomal Recessive Muscular Dystrophy Due to Torsin-1a-Interacting Protein 1 Deficiency 58
Muscular Dystrophy with Progressive Weakness, Distal Contractures and Rigid Spine 58
Autosomal Recessive Muscular Dystrophy Due to Lap1b Deficiency 58
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y 58
Muscular Dystrophy, Limb-Girdle, Type 2y; Lgmd2y 57
Tor1aip1-Related Limb-Girdle Muscular Dystrophy 58
Limb-Girdle Muscular Dystrophy 2y 73
Tor1aip1-Related Lgmd 58
Lgmd Type 2y 58

Characteristics:

Orphanet epidemiological data:

58
tor1aip1-related limb-girdle muscular dystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in first or second decade
one consanguineous turkish family has been reported (last curated august 2016)


HPO:

31
myopathy, autosomal recessive, with rigid spine and distal joint contractures:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 617072
OMIM Phenotypic Series 57 PS253600
MeSH 44 D049288
ICD10 via Orphanet 33 G71.0
Orphanet 58 ORPHA424261

Summaries for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint...

OMIM® : 57 Autosomal recessive myopathy with rigid spine and distal joint contractures (MRRSDC) is characterized by onset of slowly progressive muscle weakness in the first or second decades of life. There is initial involvement of the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function; some patients may have mild cardiac involvement (summary by Kayman-Kurekci et al., 2014). (617072) (Updated 05-Mar-2021)

MalaCards based summary : Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures, also known as muscular dystrophy, limb-girdle, type 2y, is related to muscular dystrophy, limb-girdle, autosomal recessive 2 and muscular dystrophy. An important gene associated with Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures is TOR1AIP1 (Torsin 1A Interacting Protein 1). Related phenotypes are elevated serum creatine kinase and muscle weakness

UniProtKB/Swiss-Prot : 73 Myopathy, autosomal recessive, with rigid spine and distal joint contractures: An autosomal recessive degenerative myopathy characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life.

Related Diseases for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint...

Diseases related to Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 2 11.5
2 muscular dystrophy 10.3
3 limb-girdle muscular dystrophy 10.3
4 dystonia 9.6 TOR1AIP2 TOR1AIP1

Symptoms & Phenotypes for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint...

Human phenotypes related to Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine kinase 31 occasional (7.5%) HP:0003236
2 muscle weakness 31 HP:0001324
3 spinal rigidity 31 HP:0003306
4 muscular dystrophy 31 HP:0003560
5 ankle flexion contracture 31 HP:0006466
6 increased endomysial connective tissue 31 HP:0100297

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Muscle Soft Tissue:
increased endomysial connective tissue
myopathic changes seen on emg
atrophic fibers
variation in fiber size
dystrophic changes seen on muscle biopsy
more
Skeletal Spine:
rigid spine

Skeletal Limbs:
ankle contractures

Respiratory:
restricted pulmonary function

Skeletal:
joint contractures

Skeletal Hands:
flexion contractures of the fingers

Cardiovascular Heart:
diastolic and systolic dysfunction, mild (1 patient)
decreased ejection fraction (1 patient)

Laboratory Abnormalities:
increased serum creatine kinase (1 patient)

Clinical features from OMIM®:

617072 (Updated 05-Mar-2021)

Drugs & Therapeutics for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint...

Search Clinical Trials , NIH Clinical Center for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures

Genetic Tests for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint...

Genetic tests related to Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures:

# Genetic test Affiliating Genes
1 Muscular Dystrophy, Limb-Girdle, Type 2y 29 TOR1AIP1
2 Muscular Dystrophy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 29

Anatomical Context for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint...

Publications for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint...

Articles related to Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures:

# Title Authors PMID Year
1
Response (to Sewry and Goebel). 57 6
25193337 2014
2
Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. 57 6
24856141 2014
3
Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. 57
25193335 2014
4
Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review. 61
32873274 2020

Variations for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint...

ClinVar genetic disease variations for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures:

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TOR1AIP2 NM_015602.3(TOR1AIP1):c.186del (p.Glu62fs) Deletion Pathogenic 253059 rs879255612 1:179851823-179851823 1:179882688-179882688
2 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.766C>T (p.Gln256Ter) SNV Pathogenic 862996 1:179873124-179873124 1:179903989-179903989
3 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.649G>T (p.Glu217Ter) SNV Pathogenic 660593 rs778326858 1:179869296-179869296 1:179900161-179900161
4 TOR1AIP1 NM_015602.4(TOR1AIP1):c.11_17del (p.Asp4fs) Deletion Pathogenic 959057 1:179851642-179851648 1:179882507-179882513
5 TOR1AIP1 NM_015602.4(TOR1AIP1):c.663del (p.Glu222fs) Deletion Pathogenic 950989 1:179870446-179870446 1:179901311-179901311
6 LOC112577517 NC_000001.11:g.(?_179882503)_(179904022_?)del Deletion Pathogenic 583920 1:179851638-179873157 1:179882503-179904022
7 TOR1AIP1 NM_015602.3(TOR1AIP1):c.961C>T (p.Arg321Ter) SNV Likely pathogenic 804380 rs11581962 1:179883186-179883186 1:179914051-179914051
8 TOR1AIP1 NM_015602.4(TOR1AIP1):c.554-4_554-1delinsAC Indel Likely pathogenic 952016 1:179858444-179858447 1:179889309-179889312
9 TOR1AIP1 NM_015602.3(TOR1AIP1):c.906_907+5del Deletion Likely pathogenic 643973 rs1571735403 1:179877807-179877813 1:179908672-179908678
10 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.553+1G>A SNV Likely pathogenic 644515 rs1180978840 1:179853905-179853905 1:179884770-179884770
11 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.553+1_553+10del Deletion Likely pathogenic 664567 rs750028739 1:179853903-179853912 1:179884768-179884777
12 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.800-2A>T SNV Likely pathogenic 843154 1:179876956-179876956 1:179907821-179907821
13 TOR1AIP1 NM_015602.3(TOR1AIP1):c.1427C>T (p.Ala476Val) SNV Likely pathogenic 522870 rs201518227 1:179887049-179887049 1:179917914-179917914
14 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.463C>T (p.His155Tyr) SNV Uncertain significance 542849 rs540366779 1:179852100-179852100 1:179882965-179882965
15 LOC112577517 NM_001267578.1(TOR1AIP1):c.177C>A (p.Phe59Leu) SNV Uncertain significance 542850 rs1553240735 1:179851814-179851814 1:179882679-179882679
16 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.583C>T (p.Arg195Cys) SNV Uncertain significance 476287 rs534816625 1:179858474-179858474 1:179889339-179889339
17 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.37G>A (p.Glu13Lys) SNV Uncertain significance 476284 rs749592068 1:179851674-179851674 1:179882539-179882539
18 LOC112577517 NM_001267578.1(TOR1AIP1):c.71C>G (p.Pro24Arg) SNV Uncertain significance 476289 rs1553240696 1:179851708-179851708 1:179882573-179882573
19 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.1654C>G (p.His552Asp) SNV Uncertain significance 476279 rs756853004 1:179887273-179887273 1:179918138-179918138
20 LOC112577517 NM_001267578.1(TOR1AIP1):c.246A>T (p.Gly82=) SNV Uncertain significance 476280 rs1289941681 1:179851883-179851883 1:179882748-179882748
21 LOC112577517 NM_001267578.1(TOR1AIP1):c.301G>A (p.Glu101Lys) SNV Uncertain significance 476283 rs376720897 1:179851938-179851938 1:179882803-179882803
22 LOC112577517 NM_001267578.1(TOR1AIP1):c.88G>C (p.Gly30Arg) SNV Uncertain significance 845146 1:179851725-179851725 1:179882590-179882590
23 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.1015T>C (p.Trp339Arg) SNV Uncertain significance 845219 1:179886634-179886634 1:179917499-179917499
24 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.1384G>T (p.Val462Leu) SNV Uncertain significance 847191 1:179887003-179887003 1:179917868-179917868
25 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.371C>T (p.Thr124Met) SNV Uncertain significance 847674 1:179852008-179852008 1:179882873-179882873
26 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.811A>G (p.Thr271Ala) SNV Uncertain significance 848384 1:179876969-179876969 1:179907834-179907834
27 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.910A>G (p.Asn304Asp) SNV Uncertain significance 851313 1:179877808-179877808 1:179908673-179908673
28 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.641A>G (p.Asn214Ser) SNV Uncertain significance 851674 1:179869288-179869288 1:179900153-179900153
29 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.1607T>C (p.Phe536Ser) SNV Uncertain significance 855704 1:179887226-179887226 1:179918091-179918091
30 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.1229T>G (p.Ile410Ser) SNV Uncertain significance 856162 1:179886848-179886848 1:179917713-179917713
31 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.584G>A (p.Arg195His) SNV Uncertain significance 858426 1:179858475-179858475 1:179889340-179889340
32 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.910+6T>G SNV Uncertain significance 859713 1:179877814-179877814 1:179908679-179908679
33 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.454C>T (p.Arg152Trp) SNV Uncertain significance 862731 1:179852091-179852091 1:179882956-179882956
34 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.20G>A (p.Arg7Gln) SNV Uncertain significance 863059 1:179851657-179851657 1:179882522-179882522
35 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.425C>T (p.Pro142Leu) SNV Uncertain significance 864421 1:179852062-179852062 1:179882927-179882927
36 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.383C>T (p.Thr128Ile) SNV Uncertain significance 864771 1:179852020-179852020 1:179882885-179882885
37 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.1481A>G (p.Tyr494Cys) SNV Uncertain significance 641540 rs1571741085 1:179887100-179887100 1:179917965-179917965
38 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.1322G>A (p.Arg441His) SNV Uncertain significance 642712 rs145065164 1:179886941-179886941 1:179917806-179917806
39 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.1571T>A (p.Leu524Gln) SNV Uncertain significance 643510 rs201388189 1:179887190-179887190 1:179918055-179918055
40 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.467C>T (p.Ser156Phe) SNV Uncertain significance 644094 rs759689850 1:179852104-179852104 1:179882969-179882969
41 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.514A>G (p.Ile172Val) SNV Uncertain significance 648004 rs1571720874 1:179853865-179853865 1:179884730-179884730
42 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.1333A>G (p.Ile445Val) SNV Uncertain significance 648024 rs1571740939 1:179886952-179886952 1:179917817-179917817
43 LOC112577517 NM_001267578.1(TOR1AIP1):c.188C>T (p.Pro63Leu) SNV Uncertain significance 649251 rs148576898 1:179851825-179851825 1:179882690-179882690
44 LOC112577517 NM_001267578.1(TOR1AIP1):c.296T>C (p.Val99Ala) SNV Uncertain significance 650024 rs1571719094 1:179851933-179851933 1:179882798-179882798
45 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.841+3A>G SNV Uncertain significance 652615 rs139072070 1:179877002-179877002 1:179907867-179907867
46 LOC112577517 NM_001267578.1(TOR1AIP1):c.163C>G (p.Arg55Gly) SNV Uncertain significance 654486 rs1248211584 1:179851800-179851800 1:179882665-179882665
47 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.1459G>A (p.Ala487Thr) SNV Uncertain significance 658161 rs138345857 1:179887078-179887078 1:179917943-179917943
48 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.1480T>C (p.Tyr494His) SNV Uncertain significance 660388 rs1571741081 1:179887099-179887099 1:179917964-179917964
49 LOC112577517 NM_001267578.1(TOR1AIP1):c.262G>C (p.Glu88Gln) SNV Uncertain significance 661568 rs1571719035 1:179851899-179851899 1:179882764-179882764
50 TOR1AIP1 NM_001267578.1(TOR1AIP1):c.911-7C>A SNV Uncertain significance 645904 rs745887150 1:179883126-179883126 1:179913991-179913991

Expression for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint...

Search GEO for disease gene expression data for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures.

Pathways for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint...

GO Terms for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint...

Cellular components related to Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 8.62 TOR1AIP2 TOR1AIP1

Biological processes related to Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.16 TOR1AIP2 TOR1AIP1
2 positive regulation of ATPase activity GO:0032781 8.96 TOR1AIP2 TOR1AIP1
3 protein localization to nuclear envelope GO:0090435 8.62 TOR1AIP2 TOR1AIP1

Molecular functions related to Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 8.96 TOR1AIP2 TOR1AIP1
2 ATPase activator activity GO:0001671 8.62 TOR1AIP2 TOR1AIP1

Sources for Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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