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NEM5
MCID: NML006
MIFTS: 36
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Nemaline Myopathy 5 (NEM5)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Nemaline Myopathy 5:
Characteristics:Orphanet epidemiological data:60
amish nemaline myopathy
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy death secondary to respiratory insufficiency all cases occur in old order amish, lancaster county, pennsylvania HPO:33
nemaline myopathy 5:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Muscle diseases Bone diseases
ICD10:
35
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NIH Rare Diseases
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54
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), and among its related pathways/superpathways are Lysosome and MHC class II antigen presentation. Affiliated tissues include skeletal muscle and bone, 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 : 76 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 : 77 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...
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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Human phenotypes related to Nemaline Myopathy 5:60 33 (show all 19)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:605355 |
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MalaCards organs/tissues related to Nemaline Myopathy 5:42
Skeletal Muscle,
Bone
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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 (show top 50) (show all 55)
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Search
GEO
for disease gene expression data for Nemaline Myopathy 5.
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Molecular functions related to Nemaline Myopathy 5 according to GeneCards Suite gene sharing:
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