MCID: NML006
MIFTS: 26

Nemaline Myopathy 5

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Nemaline Myopathy 5

MalaCards integrated aliases for Nemaline Myopathy 5:

Name: Nemaline Myopathy 5 57 12 75 29 6 73
Amish Nemaline Myopathy 57 12 53 59 75
Nem5 57 12 53 75
Anm 57 12 53 75
Nemaline Myopathy 5, Amish Type 57 12 53
Nemaline Myopathy, Amish Type 57 53 13
Nemaline Myopathy, Caused by Mutation in the Troponin T1 Gene 53
Nemaline Myopathy, Amish Type; Anm 57
Tnnt1-Related Nemaline Myopathy 75
Nemaline Myopathy Amish Type 75
Myopathy, Nemaline, Type 5 40
Nemaline Myopathy, Type 5 76

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:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 605355
Disease Ontology 12 DOID:0110936
Orphanet 59 ORPHA98902
ICD10 via Orphanet 34 G71.2
MedGen 42 C1854380
MeSH 44 D017696
UMLS 73 C1854380

Summaries for Nemaline Myopathy 5

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

Related Diseases for Nemaline Myopathy 5

Graphical network of the top 20 diseases related to Nemaline Myopathy 5:



Diseases related to Nemaline Myopathy 5

Symptoms & Phenotypes for Nemaline Myopathy 5

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
type 1 muscle fiber predominance
muscle weakness, progressive
tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles
tremors subside over the first 2 to 3 months of life
muscle atrophy, progressive
more
Chest External Features:
chest wall rigidity

Skeletal:
contractures, proximal, progressive (shoulders and hips, present at birth)

Neurologic Central Nervous System:
normal intelligence
limited gross motor development

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum, severe

Skeletal Pelvis:
limited hip abduction (less than 10 degrees by age 12 months)


Clinical features from OMIM:

605355

Human phenotypes related to Nemaline Myopathy 5:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 pectus carinatum 32 HP:0000768
2 tremor 32 HP:0001337
3 abnormality of the rib cage 32 HP:0001547
4 rigidity 32 HP:0002063
5 respiratory insufficiency 32 HP:0002093
6 delayed gross motor development 32 HP:0002194
7 shoulder flexion contracture 32 HP:0003044
8 decreased hip abduction 32 HP:0003184
9 myopathy 32 HP:0003198
10 hip contracture 32 HP:0003273
11 progressive muscle weakness 32 HP:0003323
12 nemaline bodies 32 HP:0003798
13 type 1 muscle fiber predominance 32 HP:0003803
14 proximal amyotrophy 32 HP:0007126

Drugs & Therapeutics for Nemaline Myopathy 5

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 5

Genetic Tests for Nemaline Myopathy 5

Genetic tests related to Nemaline Myopathy 5:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 5 29 TNNT1

Anatomical Context for Nemaline Myopathy 5

MalaCards organs/tissues related to Nemaline Myopathy 5:

41
Skeletal Muscle

Publications for Nemaline Myopathy 5

Articles related to Nemaline Myopathy 5:

# Title Authors Year
1
Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. ( 15665378 )
2005

Variations for Nemaline Myopathy 5

ClinVar genetic disease variations for Nemaline Myopathy 5:

6
(show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNT1 NM_003283.5(TNNT1): c.538G> T (p.Glu180Ter) single nucleotide variant Pathogenic rs80358249 GRCh37 Chromosome 19, 55648544: 55648544
2 TNNT1 NM_003283.5(TNNT1): c.538G> T (p.Glu180Ter) single nucleotide variant Pathogenic rs80358249 GRCh38 Chromosome 19, 55137176: 55137176
3 TNNT1 NM_003283.5(TNNT1): c.580G> A (p.Asp194Asn) single nucleotide variant Uncertain significance rs141774400 GRCh37 Chromosome 19, 55648502: 55648502
4 TNNT1 NM_003283.5(TNNT1): c.580G> A (p.Asp194Asn) single nucleotide variant Uncertain significance rs141774400 GRCh38 Chromosome 19, 55137134: 55137134
5 TNNT1 NM_003283.5(TNNT1): c.47-6C> G single nucleotide variant Likely benign rs375682055 GRCh38 Chromosome 19, 55146713: 55146713
6 TNNT1 NM_003283.5(TNNT1): c.47-6C> G single nucleotide variant Likely benign rs375682055 GRCh37 Chromosome 19, 55658081: 55658081
7 TNNT1 NM_003283.5(TNNT1): c.156G> A (p.Pro52=) single nucleotide variant Likely benign rs369149321 GRCh37 Chromosome 19, 55653261: 55653261
8 TNNT1 NM_003283.5(TNNT1): c.156G> A (p.Pro52=) single nucleotide variant Likely benign rs369149321 GRCh38 Chromosome 19, 55141893: 55141893
9 TNNT1 NM_003283.5(TNNT1): c.200A> G (p.His67Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 55652663: 55652663
10 TNNT1 NM_003283.5(TNNT1): c.200A> G (p.His67Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 55141295: 55141295
11 TNNT1 NM_003283.5(TNNT1): c.32+5G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 55658489: 55658489
12 TNNT1 NM_003283.5(TNNT1): c.32+5G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 55147121: 55147121
13 TNNT1 NM_003283.5(TNNT1): c.802G> A (p.Ala268Thr) single nucleotide variant Uncertain significance rs200340030 GRCh37 Chromosome 19, 55644318: 55644318
14 TNNT1 NM_003283.5(TNNT1): c.802G> A (p.Ala268Thr) single nucleotide variant Uncertain significance rs200340030 GRCh38 Chromosome 19, 55132950: 55132950
15 TNNT1 NM_003283.5(TNNT1): c.535C> T (p.Arg179Trp) single nucleotide variant Uncertain significance rs757227738 GRCh38 Chromosome 19, 55137179: 55137179
16 TNNT1 NM_003283.5(TNNT1): c.535C> T (p.Arg179Trp) single nucleotide variant Uncertain significance rs757227738 GRCh37 Chromosome 19, 55648547: 55648547
17 TNNT1 NM_003283.5(TNNT1): c.294C> T (p.Ala98=) single nucleotide variant Likely benign rs373544170 GRCh37 Chromosome 19, 55652569: 55652569
18 TNNT1 NM_003283.5(TNNT1): c.294C> T (p.Ala98=) single nucleotide variant Likely benign rs373544170 GRCh38 Chromosome 19, 55141201: 55141201
19 TNNT1 NM_003283.5(TNNT1): c.792-2A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 55132962: 55132962
20 TNNT1 NM_003283.5(TNNT1): c.792-2A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 55644330: 55644330
21 TNNT1 NM_003283.5(TNNT1): c.780C> T (p.His260=) single nucleotide variant Benign rs78810486 GRCh38 Chromosome 19, 55133898: 55133898
22 TNNT1 NM_003283.5(TNNT1): c.780C> T (p.His260=) single nucleotide variant Benign rs78810486 GRCh37 Chromosome 19, 55645266: 55645266
23 TNNT1 NM_003283.5(TNNT1): c.31_32+1delGAG deletion Pathogenic rs944152647 GRCh37 Chromosome 19, 55658493: 55658495
24 TNNT1 NM_003283.5(TNNT1): c.31_32+1delGAG deletion Pathogenic rs944152647 GRCh38 Chromosome 19, 55147125: 55147127
25 TNNT1 NM_003283.5(TNNT1): c.46G> C (p.Glu16Gln) single nucleotide variant Likely benign rs533504444 GRCh37 Chromosome 19, 55658376: 55658376
26 TNNT1 NM_003283.5(TNNT1): c.46G> C (p.Glu16Gln) single nucleotide variant Likely benign rs533504444 GRCh38 Chromosome 19, 55147008: 55147008
27 TNNT1 NC_000019.10: g.(?_55140863)_(55141322_?)del deletion Uncertain significance GRCh38 Chromosome 19, 55140863: 55141322
28 TNNT1 NC_000019.10: g.(?_55140863)_(55141322_?)del deletion Uncertain significance GRCh37 Chromosome 19, 55652231: 55652690
29 TNNT1 NM_003283.5(TNNT1): c.120dup (p.Lys41Glnfs) duplication Pathogenic GRCh37 Chromosome 19, 55656920: 55656920
30 TNNT1 NM_003283.5(TNNT1): c.120dup (p.Lys41Glnfs) duplication Pathogenic GRCh38 Chromosome 19, 55145552: 55145552
31 TNNT1 NM_003283.5(TNNT1): c.566G> A (p.Arg189His) single nucleotide variant Uncertain significance rs770079408 GRCh38 Chromosome 19, 55137148: 55137148
32 TNNT1 NM_003283.5(TNNT1): c.566G> A (p.Arg189His) single nucleotide variant Uncertain significance rs770079408 GRCh37 Chromosome 19, 55648516: 55648516
33 TNNT1 NM_003283.5(TNNT1): c.788A> G (p.Lys263Arg) single nucleotide variant Uncertain significance rs377276702 GRCh38 Chromosome 19, 55133890: 55133890
34 TNNT1 NM_003283.5(TNNT1): c.788A> G (p.Lys263Arg) single nucleotide variant Uncertain significance rs377276702 GRCh37 Chromosome 19, 55645258: 55645258
35 TNNT1 NM_003283.5(TNNT1): c.388-11_388-8delACTT deletion Uncertain significance GRCh37 Chromosome 19, 55649450: 55649453
36 TNNT1 NM_003283.5(TNNT1): c.388-11_388-8delACTT deletion Uncertain significance GRCh38 Chromosome 19, 55138082: 55138085
37 TNNT1 NM_003283.5(TNNT1): c.725C> T (p.Ala242Val) single nucleotide variant Uncertain significance rs779112211 GRCh38 Chromosome 19, 55134091: 55134091
38 TNNT1 NM_003283.5(TNNT1): c.725C> T (p.Ala242Val) single nucleotide variant Uncertain significance rs779112211 GRCh37 Chromosome 19, 55645459: 55645459
39 TNNT1 NM_003283.5(TNNT1): c.523C> G (p.Arg175Gly) single nucleotide variant Uncertain significance rs780372739 GRCh37 Chromosome 19, 55648559: 55648559
40 TNNT1 NM_003283.5(TNNT1): c.523C> G (p.Arg175Gly) single nucleotide variant Uncertain significance rs780372739 GRCh38 Chromosome 19, 55137191: 55137191

Expression for Nemaline Myopathy 5

Search GEO for disease gene expression data for Nemaline Myopathy 5.

Pathways for Nemaline Myopathy 5

GO Terms for Nemaline Myopathy 5

Sources for Nemaline Myopathy 5

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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45 MESH via Orphanet
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49 NCI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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