Details of Disease

General Information of Disease (ID: DISNFIVZ)

Disease Name Nemaline myopathy 5
Synonyms
nemaline myopathy, caused by mutation in the troponin t1 gene; nemaline myopathy, Amish type; TNNT1 nemaline myopathy; NEM5; Amish nemaline myopathy; nemaline myopathy 5, Amish type; ANM; nemaline myopathy caused by mutation in TNNT1; nemaline myopathy type 5; nemaline myopathy 5
Definition Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community.
Disease Hierarchy
DIS5IYLY: Nemaline myopathy
DISNFIVZ: Nemaline myopathy 5
Disease Identifiers
MONDO ID
MONDO_0011539
MESH ID
C538397
UMLS CUI
C1854380
OMIM ID
605355
MedGen ID
344273
Orphanet ID
98902
SNOMED CT ID
1197155007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C16orf82 OT77Z5Y5 Definitive Genetic Variation [1]
TNNT1 OT8PBOAR Definitive Autosomal recessive [2]
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References

1 Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.J Biol Chem. 2003 Jul 11;278(28):26159-65. doi: 10.1074/jbc.M303469200. Epub 2003 May 5.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.