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MCID: NML006
MIFTS: 26
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Nemaline Myopathy 5
Categories:
Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases
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MalaCards integrated aliases for Nemaline Myopathy 5:
Characteristics:Orphanet epidemiological data:59
amish nemaline myopathy
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy death secondary to respiratory insufficiency all cases occur in old order amish, lancaster county, pennsylvania HPO:32
nemaline myopathy 5:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
34
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98902Disease definitionAmish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community.Clinical descriptionIt has a neonatal onset and patients present with hypotonia associated to contractures, a severe pectus carinatum, and tremor that subsides after 2-3 months of age.EtiologyTNNT1 (19q13.4) is the causative gene of the Amish NM.Genetic counselingTransmission follows an autosomal recessive pattern.PrognosisLife expectancy rarely exceeds 2 years as a consequence of severe respiratory insufficiency.Visit the Orphanet disease page for more resources.
MalaCards based summary : Nemaline Myopathy 5, also known as amish nemaline myopathy, is related to nemaline myopathy and myopathy. An important gene associated with Nemaline Myopathy 5 is TNNT1 (Troponin T1, Slow Skeletal Type). Affiliated tissues include skeletal muscle, and related phenotypes are pectus carinatum and tremor Disease Ontology : 12 A nemaline myopathy that has material basis in homozygous mutation in the TNNT1 gene on chromosome 19q13. UniProtKB/Swiss-Prot : 75 Nemaline myopathy 5: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 5 is a severe and progressive form common among Old Order Amish. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year.
Description from OMIM:
605355
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Diseases in the Nemaline Myopathy family:Diseases related to Nemaline Myopathy 5 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Nemaline Myopathy 5:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:605355Human phenotypes related to Nemaline Myopathy 5:32 (show all 14)
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MalaCards organs/tissues related to Nemaline Myopathy 5:41
Skeletal Muscle
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Articles related to Nemaline Myopathy 5:
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Genes related to Nemaline Myopathy 5 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Nemaline Myopathy 5:6
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Search
GEO
for disease gene expression data for Nemaline Myopathy 5.
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