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NEM5
MCID: NML006
MIFTS: 42
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Nemaline Myopathy 5 (NEM5)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Nemaline Myopathy 5:
Characteristics:Orphanet epidemiological data:58
amish nemaline myopathy
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood; OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy death secondary to respiratory insufficiency all cases occur in old order amish, lancaster county, pennsylvania HPO:31
nemaline myopathy 5:
Inheritance autosomal recessive inheritance Onset and clinical course neonatal onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Muscle diseases Respiratory diseases Bone diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases |
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98902 Definition A type of nemaline myopathy (NM) only observed in several families of the Amish community. Clinical description It 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. Etiology TNNT1 (19q13.4) is the causative gene of the Amish NM. Genetic counseling Transmission follows an autosomal recessive pattern. Prognosis Life expectancy rarely exceeds 2 years as a consequence of severe respiratory insufficiency.
MalaCards based summary : Nemaline Myopathy 5, also known as amish nemaline myopathy, is related to left bundle branch hemiblock and atrial standstill 1. An important gene associated with Nemaline Myopathy 5 is TNNT1 (Troponin T1, Slow Skeletal Type), and among its related pathways/superpathways is Striated Muscle Contraction. Affiliated tissues include skeletal muscle and brain, and related phenotypes are tremor and pectus carinatum Disease Ontology : 12 A nemaline myopathy that has material basis in homozygous mutation in the TNNT1 gene on chromosome 19q13. UniProtKB/Swiss-Prot : 72 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. Wikipedia : 73 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary... more... |
Human phenotypes related to Nemaline Myopathy 5:58 31 (show all 18)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:605355 (Updated 20-May-2021) |
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MalaCards organs/tissues related to Nemaline Myopathy 5:40
Skeletal Muscle,
Brain
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Articles related to Nemaline Myopathy 5:(show all 12)
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Genes related to Nemaline Myopathy 5 (1 elite genes):(show all 22) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Nemaline Myopathy 5:6 (show top 50) (show all 98)
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Search
GEO
for disease gene expression data for Nemaline Myopathy 5.
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Cellular components related to Nemaline Myopathy 5 according to GeneCards Suite gene sharing:
Biological processes related to Nemaline Myopathy 5 according to GeneCards Suite gene sharing:
Molecular functions related to Nemaline Myopathy 5 according to GeneCards Suite gene sharing:
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