MDRCMTT
MCID: MSC185
MIFTS: 21

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

Categories: Cardiovascular diseases, Genetic diseases, Muscle 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 58 76 6
Muscular Dystrophy, Limb-Girdle, Type 2w 58 76 30 6
Lgmd2w 58 60 76
Mdrcmtt 58 76
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 60
Muscular Dystrophy, Limb-Girdle, Type 2w; Lgmd2w 58
Limb-Girdle Muscular Dystrophy 2w 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
progressive
two adult sibs have been reported (last curated february 2016)


HPO:

33
muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue:
Onset and clinical course childhood onset progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


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

OMIM : 58 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)

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 : 76 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 11.7

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

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

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 skeletal muscle atrophy 33 HP:0003202
3 dilated cardiomyopathy 33 HP:0001644
4 talipes equinovarus 33 HP:0001762
5 muscular dystrophy 33 HP:0003560
6 increased connective tissue 33 HP:0009025
7 calf muscle hypertrophy 33 HP:0008981
8 tetraparesis 33 HP:0002273
9 reduced systolic function 33 HP:0006673
10 elevated serum creatine kinase 33 HP:0003236
11 triangular tongue 33 HP:0030284

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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:

42
Tongue, Skeletal Muscle

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

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 77)
# Gene Variation Type Significance SNP ID Assembly Location
1 LIMS2 NM_001161404.1(LIMS2): c.261C> G (p.Asn87Lys) single nucleotide variant no interpretation for the single variant rs754385302 GRCh38 Chromosome 2, 127654507: 127654507
2 LIMS2 NM_001161404.1(LIMS2): c.261C> G (p.Asn87Lys) single nucleotide variant no interpretation for the single variant rs754385302 GRCh37 Chromosome 2, 128412081: 128412081
3 LIMS2 NM_017980.4(LIMS2): c.362C> T (p.Pro121Leu) single nucleotide variant Uncertain significance rs768056213 GRCh38 Chromosome 2, 127654493: 127654493
4 LIMS2 NM_017980.4(LIMS2): c.362C> T (p.Pro121Leu) single nucleotide variant Uncertain significance rs768056213 GRCh37 Chromosome 2, 128412067: 128412067
5 LIMS2 NM_001161404.1(LIMS2): c.953T> C (p.Leu318Pro) single nucleotide variant Pathogenic rs869025562 GRCh38 Chromosome 2, 127639339: 127639339
6 LIMS2 NM_001161404.1(LIMS2): c.953T> C (p.Leu318Pro) single nucleotide variant Pathogenic rs869025562 GRCh37 Chromosome 2, 128396914: 128396914
7 LIMS2 NM_017980.4(LIMS2): c.875-8C> G single nucleotide variant Benign rs115961120 GRCh38 Chromosome 2, 127640153: 127640153
8 LIMS2 NM_017980.4(LIMS2): c.875-8C> G single nucleotide variant Benign rs115961120 GRCh37 Chromosome 2, 128397728: 128397728
9 LIMS2 NM_017980.4(LIMS2): c.457C> T (p.Arg153Cys) single nucleotide variant Benign/Likely benign rs145123078 GRCh38 Chromosome 2, 127643047: 127643047
10 LIMS2 NM_017980.4(LIMS2): c.457C> T (p.Arg153Cys) single nucleotide variant Benign/Likely benign rs145123078 GRCh37 Chromosome 2, 128400622: 128400622
11 LIMS2 NM_017980.4(LIMS2): c.261C> T (p.Tyr87=) single nucleotide variant Benign rs35765118 GRCh38 Chromosome 2, 127654879: 127654879
12 LIMS2 NM_017980.4(LIMS2): c.261C> T (p.Tyr87=) single nucleotide variant Benign rs35765118 GRCh37 Chromosome 2, 128412453: 128412453
13 LIMS2 NM_017980.4(LIMS2): c.108C> T (p.Asn36=) single nucleotide variant Likely benign rs150714487 GRCh38 Chromosome 2, 127657538: 127657538
14 LIMS2 NM_017980.4(LIMS2): c.108C> T (p.Asn36=) single nucleotide variant Likely benign rs150714487 GRCh37 Chromosome 2, 128415112: 128415112
15 LIMS2 NC_000002.11: g.(?_128396836)_(128432618_?)dup duplication Uncertain significance GRCh37 Chromosome 2, 128396836: 128432618
16 LIMS2 NM_001161404.1(LIMS2): c.943_954dup (p.Leu318_Ser319insLeuLysLysLeu) duplication Uncertain significance rs752066748 GRCh37 Chromosome 2, 128396913: 128396924
17 LIMS2 NM_001161404.1(LIMS2): c.943_954dup (p.Leu318_Ser319insLeuLysLysLeu) duplication Uncertain significance rs752066748 GRCh38 Chromosome 2, 127639338: 127639349
18 LIMS2 NM_017980.4(LIMS2): c.865G> A (p.Glu289Lys) single nucleotide variant Uncertain significance rs199761833 GRCh38 Chromosome 2, 127640279: 127640279
19 LIMS2 NM_017980.4(LIMS2): c.865G> A (p.Glu289Lys) single nucleotide variant Uncertain significance rs199761833 GRCh37 Chromosome 2, 128397854: 128397854
20 LIMS2 NM_017980.4(LIMS2): c.666C> T (p.Cys222=) single nucleotide variant Benign rs74638847 GRCh38 Chromosome 2, 127642115: 127642115
21 LIMS2 NM_017980.4(LIMS2): c.666C> T (p.Cys222=) single nucleotide variant Benign rs74638847 GRCh37 Chromosome 2, 128399690: 128399690
22 LIMS2 NM_017980.4(LIMS2): c.111C> T (p.Ala37=) single nucleotide variant Benign rs143117627 GRCh37 Chromosome 2, 128415109: 128415109
23 LIMS2 NM_017980.4(LIMS2): c.111C> T (p.Ala37=) single nucleotide variant Benign rs143117627 GRCh38 Chromosome 2, 127657535: 127657535
24 LIMS2 NM_017980.4(LIMS2): c.700G> A (p.Val234Ile) single nucleotide variant Uncertain significance rs575987494 GRCh38 Chromosome 2, 127642081: 127642081
25 LIMS2 NM_017980.4(LIMS2): c.700G> A (p.Val234Ile) single nucleotide variant Uncertain significance rs575987494 GRCh37 Chromosome 2, 128399656: 128399656
26 LIMS2 NM_017980.4(LIMS2): c.361C> T (p.Pro121Ser) single nucleotide variant Uncertain significance rs368536679 GRCh38 Chromosome 2, 127654494: 127654494
27 LIMS2 NM_017980.4(LIMS2): c.361C> T (p.Pro121Ser) single nucleotide variant Uncertain significance rs368536679 GRCh37 Chromosome 2, 128412068: 128412068
28 LIMS2 NM_017980.4(LIMS2): c.225C> T (p.Pro75=) single nucleotide variant Likely benign rs144872986 GRCh38 Chromosome 2, 127657421: 127657421
29 LIMS2 NM_017980.4(LIMS2): c.225C> T (p.Pro75=) single nucleotide variant Likely benign rs144872986 GRCh37 Chromosome 2, 128414995: 128414995
30 LIMS2 NM_017980.4(LIMS2): c.837C> T (p.Asp279=) single nucleotide variant Benign rs199994172 GRCh38 Chromosome 2, 127640307: 127640307
31 LIMS2 NM_017980.4(LIMS2): c.837C> T (p.Asp279=) single nucleotide variant Benign rs199994172 GRCh37 Chromosome 2, 128397882: 128397882
32 LIMS2 NM_017980.4(LIMS2): c.981C> T (p.Pro327=) single nucleotide variant Likely benign rs374378217 GRCh38 Chromosome 2, 127639398: 127639398
33 LIMS2 NM_017980.4(LIMS2): c.981C> T (p.Pro327=) single nucleotide variant Likely benign rs374378217 GRCh37 Chromosome 2, 128396973: 128396973
34 LIMS2 NM_017980.4(LIMS2): c.363G> A (p.Pro121=) single nucleotide variant Benign rs11900522 GRCh38 Chromosome 2, 127654492: 127654492
35 LIMS2 NM_017980.4(LIMS2): c.363G> A (p.Pro121=) single nucleotide variant Benign rs11900522 GRCh37 Chromosome 2, 128412066: 128412066
36 LIMS2 NM_017980.4(LIMS2): c.1011G> A (p.Pro337=) single nucleotide variant Likely benign rs773583305 GRCh37 Chromosome 2, 128396943: 128396943
37 LIMS2 NM_017980.4(LIMS2): c.1011G> A (p.Pro337=) single nucleotide variant Likely benign rs773583305 GRCh38 Chromosome 2, 127639368: 127639368
38 LIMS2 NM_017980.4(LIMS2): c.72G> A (p.Pro24=) single nucleotide variant Likely benign rs529824211 GRCh37 Chromosome 2, 128421891: 128421891
39 LIMS2 NM_017980.4(LIMS2): c.72G> A (p.Pro24=) single nucleotide variant Likely benign rs529824211 GRCh38 Chromosome 2, 127664317: 127664317
40 LIMS2 NM_017980.4(LIMS2): c.882G> A (p.Ser294=) single nucleotide variant Likely benign rs752693744 GRCh37 Chromosome 2, 128397713: 128397713
41 LIMS2 NM_017980.4(LIMS2): c.882G> A (p.Ser294=) single nucleotide variant Likely benign rs752693744 GRCh38 Chromosome 2, 127640138: 127640138
42 LIMS2 NM_017980.4(LIMS2): c.598G> A (p.Glu200Lys) single nucleotide variant Uncertain significance rs759040020 GRCh37 Chromosome 2, 128399758: 128399758
43 LIMS2 NM_017980.4(LIMS2): c.598G> A (p.Glu200Lys) single nucleotide variant Uncertain significance rs759040020 GRCh38 Chromosome 2, 127642183: 127642183
44 LIMS2 NM_017980.4(LIMS2): c.954C> A (p.Asn318Lys) single nucleotide variant Uncertain significance rs149101001 GRCh37 Chromosome 2, 128397000: 128397000
45 LIMS2 NM_017980.4(LIMS2): c.954C> A (p.Asn318Lys) single nucleotide variant Uncertain significance rs149101001 GRCh38 Chromosome 2, 127639425: 127639425
46 LIMS2 NM_017980.4(LIMS2): c.826-10C> T single nucleotide variant Likely benign rs377539811 GRCh37 Chromosome 2, 128397903: 128397903
47 LIMS2 NM_017980.4(LIMS2): c.826-10C> T single nucleotide variant Likely benign rs377539811 GRCh38 Chromosome 2, 127640328: 127640328
48 LIMS2 NM_017980.4(LIMS2): c.824A> G (p.Gln275Arg) single nucleotide variant Uncertain significance rs146422285 GRCh37 Chromosome 2, 128398472: 128398472
49 LIMS2 NM_017980.4(LIMS2): c.824A> G (p.Gln275Arg) single nucleotide variant Uncertain significance rs146422285 GRCh38 Chromosome 2, 127640897: 127640897
50 LIMS2 NM_017980.4(LIMS2): c.972C> T (p.Asp324=) single nucleotide variant Likely benign rs1553460868 GRCh37 Chromosome 2, 128396982: 128396982

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...

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