MDRCMTT
MCID: MSC185
MIFTS: 27

Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue (MDRCMTT)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...

MalaCards integrated aliases for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:

Name: Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue 57 72
Muscular Dystrophy, Limb-Girdle, Type 2w 57 72 29 6
Lgmd2w 57 58 72
Mdrcmtt 57 72
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 58
Muscular Dystrophy, Limb-Girdle, Type 2w; Lgmd2w 57
Lims2-Related Limb-Girdle Muscular Dystrophy 58
Limb-Girdle Muscular Dystrophy Type 2w 58
Limb-Girdle Muscular Dystrophy 2w 72
Lims2-Related Lgm 58
Lgmd Type 2w 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
progressive
onset in childhood
two adult sibs have been reported (last curated february 2016)

Inheritance:
autosomal recessive


HPO:

31
muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive childhood onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...

OMIM® : 57 Autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue (MDRCMTT) is an autosomal recessive muscle disorder characterized by onset of severe and progressive muscle weakness and atrophy in childhood, resulting in loss of independent ambulation. Patients may also have dilated cardiomyopathy and have macroglossia with a small tip, resulting in a triangular appearance of the tongue (summary by Warman Chardon et al., 2015). (616827) (Updated 20-May-2021)

MalaCards based summary : Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue, also known as muscular dystrophy, limb-girdle, type 2w, is related to autosomal recessive limb-girdle muscular dystrophy type 2w. An important gene associated with Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue is LIMS2 (LIM Zinc Finger Domain Containing 2). Affiliated tissues include tongue and skeletal muscle, and related phenotypes are muscle weakness and skeletal muscle atrophy

UniProtKB/Swiss-Prot : 72 Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue: An autosomal recessive muscular dystrophy characterized by childhood- onset of muscle weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy, and macroglossia with a small tip resulting in a triangular tongue.

Related Diseases for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...

Diseases related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2w 11.5

Symptoms & Phenotypes for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...

Human phenotypes related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 skeletal muscle atrophy 31 HP:0003202
3 elevated serum creatine kinase 31 HP:0003236
4 dilated cardiomyopathy 31 HP:0001644
5 talipes equinovarus 31 HP:0001762
6 muscular dystrophy 31 HP:0003560
7 calf muscle hypertrophy 31 HP:0008981
8 tetraparesis 31 HP:0002273
9 increased connective tissue 31 HP:0009025
10 reduced systolic function 31 HP:0006673
11 triangular tongue 31 HP:0030284

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
macroglossia
triangular tongue

Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
cardiomyopathy, dilated
systolic dysfunction
hypokinesis

Muscle Soft Tissue:
muscular dystrophy
increased connective tissue
muscle atrophy
loss of ambulation
variation in fiber size seen on muscle biopsy
more
Skeletal Feet:
equinovarus

Clinical features from OMIM®:

616827 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.62 GPR17 LIMS2

Drugs & Therapeutics for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue

Genetic Tests for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...

Genetic tests related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:

# Genetic test Affiliating Genes
1 Muscular Dystrophy, Limb-Girdle, Type 2w 29 LIMS2

Anatomical Context for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...

MalaCards organs/tissues related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:

40
Tongue, Skeletal Muscle

Publications for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...

Articles related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:

# Title Authors PMID Year
1
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. 57 6
25589244 2015
2
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014

Variations for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...

ClinVar genetic disease variations for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIMS2 NM_017980.4(LIMS2):c.1040T>C (p.Leu347Pro) SNV Pathogenic 222902 rs869025562 GRCh37: 2:128396914-128396914
GRCh38: 2:127639339-127639339
2 GPR17 , LIMS2 NM_001161403.3(LIMS2):c.359+3517G>A SNV Pathogenic 1029143 GRCh37: 2:128408481-128408481
GRCh38: 2:127650907-127650907
3 LIMS2 NM_017980.4(LIMS2):c.348C>G (p.Asn116Lys) SNV Pathogenic 222901 rs754385302 GRCh37: 2:128412081-128412081
GRCh38: 2:127654507-127654507
4 LIMS2 NM_017980.4(LIMS2):c.362C>T (p.Pro121Leu) SNV Uncertain significance 242437 rs768056213 GRCh37: 2:128412067-128412067
GRCh38: 2:127654493-127654493
5 LIMS2 NM_001161403.3(LIMS2):c.11+1332_11+1333dup Duplication Uncertain significance 835345 GRCh37: 2:128431254-128431255
GRCh38: 2:127673680-127673681
6 LIMS2 NM_001161403.3(LIMS2):c.879-1G>A SNV Uncertain significance 851713 GRCh37: 2:128397004-128397004
GRCh38: 2:127639429-127639429
7 LIMS2 NM_001161403.3(LIMS2):c.454C>T (p.Leu152Phe) SNV Uncertain significance 1053867 GRCh37: 2:128400553-128400553
GRCh38: 2:127642978-127642978
8 LIMS2 NM_001161403.3(LIMS2):c.167A>G (p.Tyr56Cys) SNV Uncertain significance 1053971 GRCh37: 2:128414981-128414981
GRCh38: 2:127657407-127657407
9 LIMS2 NM_001161403.3(LIMS2):c.49C>T (p.Arg17Cys) SNV Uncertain significance 1054460 GRCh37: 2:128415099-128415099
GRCh38: 2:127657525-127657525
10 LIMS2 NM_001161403.3(LIMS2):c.79C>T (p.Arg27Cys) SNV Uncertain significance 1054901 GRCh37: 2:128415069-128415069
GRCh38: 2:127657495-127657495
11 LIMS2 NM_001161403.3(LIMS2):c.385C>G (p.Arg129Gly) SNV Uncertain significance 1056461 GRCh37: 2:128400622-128400622
GRCh38: 2:127643047-127643047
12 LIMS2 NM_001161403.3(LIMS2):c.181C>T (p.Arg61Trp) SNV Uncertain significance 1058817 GRCh37: 2:128412461-128412461
GRCh38: 2:127654887-127654887
13 LIMS2 NM_001161403.3(LIMS2):c.145C>A (p.Pro49Thr) SNV Uncertain significance 1061830 GRCh37: 2:128415003-128415003
GRCh38: 2:127657429-127657429
14 LIMS2 and overlap with 1 gene(s) NC_000002.11:g.(?_128396836)_(128432618_?)dup Duplication Uncertain significance 475542 GRCh37: 2:128396836-128432618
GRCh38:
15 LIMS2 NM_001161403.3(LIMS2):c.61C>T (p.Arg21Cys) SNV Uncertain significance 1036588 GRCh37: 2:128415087-128415087
GRCh38: 2:127657513-127657513
16 LIMS2 NM_001161403.3(LIMS2):c.345GAA[1] (p.Lys116del) Microsatellite Uncertain significance 1041213 GRCh37: 2:128412007-128412009
GRCh38: 2:127654433-127654435
17 LIMS2 NM_001161403.3(LIMS2):c.237C>T (p.Cys79=) SNV Uncertain significance 1046324 GRCh37: 2:128412405-128412405
GRCh38: 2:127654831-127654831
18 LIMS2 NM_001161403.3(LIMS2):c.14A>G (p.Asn5Ser) SNV Uncertain significance 1047114 GRCh37: 2:128415134-128415134
GRCh38: 2:127657560-127657560
19 LIMS2 NM_017980.4(LIMS2):c.865G>A (p.Glu289Lys) SNV Uncertain significance 475551 rs199761833 GRCh37: 2:128397854-128397854
GRCh38: 2:127640279-127640279
20 LIMS2 NM_017980.4(LIMS2):c.691G>A (p.Gly231Ser) SNV Uncertain significance 566596 rs141505120 GRCh37: 2:128399665-128399665
GRCh38: 2:127642090-127642090
21 LIMS2 NM_017980.4(LIMS2):c.350A>G (p.Asn117Ser) SNV Uncertain significance 568802 rs373800371 GRCh37: 2:128412079-128412079
GRCh38: 2:127654505-127654505
22 LIMS2 NM_001136037.3(LIMS2):c.599G>A (p.Arg200His) SNV Uncertain significance 569601 rs144584729 GRCh37: 2:128399751-128399751
GRCh38: 2:127642176-127642176
23 LIMS2 NM_017980.4(LIMS2):c.79A>G (p.Thr27Ala) SNV Uncertain significance 571615 rs968524490 GRCh37: 2:128421884-128421884
GRCh38: 2:127664310-127664310
24 LIMS2 NM_017980.4(LIMS2):c.328C>T (p.Arg110Cys) SNV Uncertain significance 574732 rs757640443 GRCh37: 2:128412101-128412101
GRCh38: 2:127654527-127654527
25 LIMS2 NM_017980.4(LIMS2):c.145G>A (p.Ala49Thr) SNV Uncertain significance 576829 rs201527546 GRCh37: 2:128415075-128415075
GRCh38: 2:127657501-127657501
26 LIMS2 NM_017980.4(LIMS2):c.661A>T (p.Ile221Phe) SNV Uncertain significance 579769 rs1558868736 GRCh37: 2:128399695-128399695
GRCh38: 2:127642120-127642120
27 LIMS2 NM_017980.4(LIMS2):c.373C>T (p.Arg125Cys) SNV Uncertain significance 580827 rs201636855 GRCh37: 2:128412056-128412056
GRCh38: 2:127654482-127654482
28 LIMS2 NM_017980.4(LIMS2):c.733C>T (p.His245Tyr) SNV Uncertain significance 582942 rs1490885244 GRCh37: 2:128398563-128398563
GRCh38: 2:127640988-127640988
29 LIMS2 NM_017980.4(LIMS2):c.58C>G (p.Arg20Gly) SNV Uncertain significance 639785 rs924276736 GRCh37: 2:128421905-128421905
GRCh38: 2:127664331-127664331
30 LIMS2 NM_001136037.3(LIMS2):c.436C>T (p.Arg146Trp) SNV Uncertain significance 643856 rs369430789 GRCh37: 2:128400637-128400637
GRCh38: 2:127643062-127643062
31 LIMS2 NM_017980.4(LIMS2):c.581+3A>G SNV Uncertain significance 643906 rs746495081 GRCh37: 2:128400495-128400495
GRCh38: 2:127642920-127642920
32 LIMS2 NM_017980.4(LIMS2):c.677G>A (p.Arg226His) SNV Uncertain significance 644767 rs148420126 GRCh37: 2:128399679-128399679
GRCh38: 2:127642104-127642104
33 LIMS2 NM_017980.4(LIMS2):c.180C>A (p.Tyr60Ter) SNV Uncertain significance 648145 rs752899664 GRCh37: 2:128415040-128415040
GRCh38: 2:127657466-127657466
34 LIMS2 NM_017980.4(LIMS2):c.331G>A (p.Val111Ile) SNV Uncertain significance 651516 rs756099594 GRCh37: 2:128412098-128412098
GRCh38: 2:127654524-127654524
35 LIMS2 NM_017980.4(LIMS2):c.44G>A (p.Arg15Gln) SNV Uncertain significance 652798 rs975497154 GRCh37: 2:128421919-128421919
GRCh38: 2:127664345-127664345
36 LIMS2 NC_000002.12:g.(?_127654414)_(127657572_?)del Deletion Uncertain significance 656815 GRCh37: 2:128411988-128415146
GRCh38: 2:127654414-127657572
37 LIMS2 NM_017980.4(LIMS2):c.954C>G (p.Asn318Lys) SNV Uncertain significance 659098 rs149101001 GRCh37: 2:128397000-128397000
GRCh38: 2:127639425-127639425
38 LIMS2 NM_017980.4(LIMS2):c.607G>A (p.Glu203Lys) SNV Uncertain significance 663908 rs144449664 GRCh37: 2:128399749-128399749
GRCh38: 2:127642174-127642174
39 LIMS2 NM_017980.4(LIMS2):c.432-4G>T SNV Uncertain significance 665103 rs112254310 GRCh37: 2:128400651-128400651
GRCh38: 2:127643076-127643076
40 LIMS2 NM_017980.4(LIMS2):c.361C>T (p.Pro121Ser) SNV Uncertain significance 475546 rs368536679 GRCh37: 2:128412068-128412068
GRCh38: 2:127654494-127654494
41 LIMS2 NM_017980.4(LIMS2):c.1030_1041dup (p.Leu344_Leu347dup) Duplication Uncertain significance 475543 rs752066748 GRCh37: 2:128396912-128396913
GRCh38: 2:127639337-127639338
42 LIMS2 NM_017980.4(LIMS2):c.700G>A (p.Val234Ile) SNV Uncertain significance 475549 rs575987494 GRCh37: 2:128399656-128399656
GRCh38: 2:127642081-127642081
43 LIMS2 NM_017980.4(LIMS2):c.954C>A (p.Asn318Lys) SNV Uncertain significance 542250 rs149101001 GRCh37: 2:128397000-128397000
GRCh38: 2:127639425-127639425
44 LIMS2 NM_017980.4(LIMS2):c.824A>G (p.Gln275Arg) SNV Uncertain significance 542251 rs146422285 GRCh37: 2:128398472-128398472
GRCh38: 2:127640897-127640897
45 LIMS2 NM_017980.4(LIMS2):c.598G>A (p.Glu200Lys) SNV Uncertain significance 542252 rs759040020 GRCh37: 2:128399758-128399758
GRCh38: 2:127642183-127642183
46 LIMS2 NM_001161403.3(LIMS2):c.940C>A (p.Leu314Met) SNV Uncertain significance 835569 GRCh37: 2:128396942-128396942
GRCh38: 2:127639367-127639367
47 LIMS2 NM_001161403.3(LIMS2):c.622C>T (p.Arg208Ter) SNV Uncertain significance 835610 GRCh37: 2:128399662-128399662
GRCh38: 2:127642087-127642087
48 LIMS2 NM_001161403.3(LIMS2):c.190T>C (p.Cys64Arg) SNV Uncertain significance 838090 GRCh37: 2:128412452-128412452
GRCh38: 2:127654878-127654878
49 LIMS2 NM_001161403.3(LIMS2):c.669_672del (p.Cys224fs) Deletion Uncertain significance 847562 GRCh37: 2:128398552-128398555
GRCh38: 2:127640977-127640980
50 LIMS2 NM_001161403.3(LIMS2):c.114G>C (p.Glu38Asp) SNV Uncertain significance 850715 GRCh37: 2:128415034-128415034
GRCh38: 2:127657460-127657460

Expression for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...

Search GEO for disease gene expression data for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue.

Pathways for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...

GO Terms for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...

Sources for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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