|
LGMD2W
MCID: MSC185
MIFTS: 22
|
Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue (LGMD2W)
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
57
6
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in childhood progressive two adult sibs have been reported (last curated february 2016) HPO:32
muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue:
Onset and clinical course childhood onset progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Cardiovascular diseases Muscle diseases |
|
UniProtKB/Swiss-Prot
:
75
Limb-girdle muscular dystrophy 2W: A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2W is characterized by childhood-onset of weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy.
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 elevated serum creatine phosphokinase 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) |
Diseases related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue via text searches within MalaCards or GeneCards Suite gene sharing:
|
Symptoms & Phenotypes for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616827Human phenotypes related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:32 (show all 11)
|
Drugs & Therapeutics for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and...
|
|
MalaCards organs/tissues related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:41
Tongue,
Skeletal Muscle
|
Genes related to Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue:6 (show top 50) (show all 77)
|
|
Search
GEO
for disease gene expression data for Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue.
|
|
|
|