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MDRCMTT
MCID: MSC185
MIFTS: 27
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Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue (MDRCMTT)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...
MalaCards integrated aliases for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:
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 |
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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. |
Diseases related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue via text searches within MalaCards or GeneCards Suite gene sharing:
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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)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:616827 (Updated 20-May-2021)MGI Mouse Phenotypes related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:46
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Drugs & Therapeutics for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...
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MalaCards organs/tissues related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:40
Tongue,
Skeletal Muscle
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Articles related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:
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Genes related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:6 (show top 50) (show all 90)
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Search
GEO
for disease gene expression data for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue.
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