NEM5
MCID: NML006
MIFTS: 36

Nemaline Myopathy 5 (NEM5)

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

Aliases & Classifications for Nemaline Myopathy 5

MalaCards integrated aliases for Nemaline Myopathy 5:

Name: Nemaline Myopathy 5 58 12 76 30 6 15 74
Amish Nemaline Myopathy 58 12 54 60 76
Nem5 58 12 54 76
Anm 58 12 54 76
Nemaline Myopathy 5, Amish Type 58 12 54
Nemaline Myopathy, Amish Type 58 54 13
Nemaline Myopathy, Caused by Mutation in the Troponin T1 Gene 54
Nemaline Myopathy, Amish Type; Anm 58
Tnnt1-Related Nemaline Myopathy 76
Nemaline Myopathy Amish Type 76
Myopathy, Nemaline, Type 5 41
Nemaline Myopathy, Type 5 77

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:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110936
OMIM 58 605355
MeSH 45 D017696
ICD10 via Orphanet 35 G71.2
Orphanet 60 ORPHA98902
MedGen 43 C1854380
UMLS 74 C1854380

Summaries for Nemaline Myopathy 5

NIH Rare Diseases : 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

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

Human phenotypes related to Nemaline Myopathy 5:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
2 pectus carinatum 60 33 frequent (33%) Frequent (79-30%) HP:0000768
3 neonatal hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001319
4 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
5 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
6 type 1 muscle fiber predominance 60 33 frequent (33%) Frequent (79-30%) HP:0003803
7 shoulder flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0003044
8 hip contracture 60 33 frequent (33%) Frequent (79-30%) HP:0003273
9 proximal amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0007126
10 progressive muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003323
11 respiratory insufficiency due to muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0002747
12 intellectual disability 60 Excluded (0%)
13 respiratory insufficiency 33 HP:0002093
14 myopathy 33 HP:0003198
15 nemaline bodies 33 HP:0003798
16 rigidity 33 HP:0002063
17 delayed gross motor development 33 HP:0002194
18 decreased hip abduction 33 HP:0003184
19 abnormality of the rib cage 33 HP:0001547

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Nemaline Myopathy 5:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 DNM1 OMP PKLR PPRC1 TPP1 TSFM

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 30 TNNT1

Anatomical Context for Nemaline Myopathy 5

MalaCards organs/tissues related to Nemaline Myopathy 5:

42
Skeletal Muscle, Bone

Publications for Nemaline Myopathy 5

Articles related to Nemaline Myopathy 5:

# Title Authors Year
1
Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. ( 30395933 )
2018
2
Clinical utility gene card for: nemaline myopathy. ( 22510848 )
2012
3
Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. ( 15665378 )
2005
4
Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. ( 12732643 )
2003
5
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. ( 10952871 )
2000

Variations for Nemaline Myopathy 5

ClinVar genetic disease variations for Nemaline Myopathy 5:

6 (show top 50) (show all 55)
# 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.279A> G (p.Glu93=) single nucleotide variant Benign/Likely benign rs34313388 GRCh37 Chromosome 19, 55652584: 55652584
4 TNNT1 NM_003283.5(TNNT1): c.279A> G (p.Glu93=) single nucleotide variant Benign/Likely benign rs34313388 GRCh38 Chromosome 19, 55141216: 55141216
5 TNNT1 NM_003283.5(TNNT1): c.795G> T (p.Arg265=) single nucleotide variant Benign rs890868 GRCh37 Chromosome 19, 55644325: 55644325
6 TNNT1 NM_003283.5(TNNT1): c.795G> T (p.Arg265=) single nucleotide variant Benign rs890868 GRCh38 Chromosome 19, 55132957: 55132957
7 TNNT1 NM_003283.5(TNNT1): c.129-9T> G single nucleotide variant Benign/Likely benign rs67795913 GRCh37 Chromosome 19, 55653297: 55653297
8 TNNT1 NM_003283.5(TNNT1): c.129-9T> G single nucleotide variant Benign/Likely benign rs67795913 GRCh38 Chromosome 19, 55141929: 55141929
9 TNNT1 NM_003283.5(TNNT1): c.580G> A (p.Asp194Asn) single nucleotide variant Uncertain significance rs141774400 GRCh37 Chromosome 19, 55648502: 55648502
10 TNNT1 NM_003283.5(TNNT1): c.580G> A (p.Asp194Asn) single nucleotide variant Uncertain significance rs141774400 GRCh38 Chromosome 19, 55137134: 55137134
11 TNNT1 NM_003283.5(TNNT1): c.47-6C> G single nucleotide variant Likely benign rs375682055 GRCh38 Chromosome 19, 55146713: 55146713
12 TNNT1 NM_003283.5(TNNT1): c.47-6C> G single nucleotide variant Likely benign rs375682055 GRCh37 Chromosome 19, 55658081: 55658081
13 TNNT1 NM_003283.5(TNNT1): c.156G> A (p.Pro52=) single nucleotide variant Likely benign rs369149321 GRCh37 Chromosome 19, 55653261: 55653261
14 TNNT1 NM_003283.5(TNNT1): c.156G> A (p.Pro52=) single nucleotide variant Likely benign rs369149321 GRCh38 Chromosome 19, 55141893: 55141893
15 TNNT1 NM_003283.5(TNNT1): c.200A> G (p.His67Arg) single nucleotide variant Uncertain significance rs1555858107 GRCh37 Chromosome 19, 55652663: 55652663
16 TNNT1 NM_003283.5(TNNT1): c.200A> G (p.His67Arg) single nucleotide variant Uncertain significance rs1555858107 GRCh38 Chromosome 19, 55141295: 55141295
17 TNNT1 NM_003283.5(TNNT1): c.32+5G> A single nucleotide variant Uncertain significance rs1555859876 GRCh37 Chromosome 19, 55658489: 55658489
18 TNNT1 NM_003283.5(TNNT1): c.32+5G> A single nucleotide variant Uncertain significance rs1555859876 GRCh38 Chromosome 19, 55147121: 55147121
19 TNNT1 NM_003283.5(TNNT1): c.802G> A (p.Ala268Thr) single nucleotide variant Uncertain significance rs200340030 GRCh37 Chromosome 19, 55644318: 55644318
20 TNNT1 NM_003283.5(TNNT1): c.802G> A (p.Ala268Thr) single nucleotide variant Uncertain significance rs200340030 GRCh38 Chromosome 19, 55132950: 55132950
21 TNNT1 NM_003283.5(TNNT1): c.535C> T (p.Arg179Trp) single nucleotide variant Uncertain significance rs757227738 GRCh38 Chromosome 19, 55137179: 55137179
22 TNNT1 NM_003283.5(TNNT1): c.535C> T (p.Arg179Trp) single nucleotide variant Uncertain significance rs757227738 GRCh37 Chromosome 19, 55648547: 55648547
23 TNNT1 NM_003283.5(TNNT1): c.294C> T (p.Ala98=) single nucleotide variant Likely benign rs373544170 GRCh38 Chromosome 19, 55141201: 55141201
24 TNNT1 NM_003283.5(TNNT1): c.294C> T (p.Ala98=) single nucleotide variant Likely benign rs373544170 GRCh37 Chromosome 19, 55652569: 55652569
25 TNNT1 NM_003283.5(TNNT1): c.792-2A> G single nucleotide variant Uncertain significance rs1555855228 GRCh38 Chromosome 19, 55132962: 55132962
26 TNNT1 NM_003283.5(TNNT1): c.792-2A> G single nucleotide variant Uncertain significance rs1555855228 GRCh37 Chromosome 19, 55644330: 55644330
27 TNNT1 NM_003283.5(TNNT1): c.780C> T (p.His260=) single nucleotide variant Benign rs78810486 GRCh38 Chromosome 19, 55133898: 55133898
28 TNNT1 NM_003283.5(TNNT1): c.780C> T (p.His260=) single nucleotide variant Benign rs78810486 GRCh37 Chromosome 19, 55645266: 55645266
29 TNNT1 NM_003283.5(TNNT1): c.46G> C (p.Glu16Gln) single nucleotide variant Likely benign rs533504444 GRCh37 Chromosome 19, 55658376: 55658376
30 TNNT1 NM_003283.5(TNNT1): c.46G> C (p.Glu16Gln) single nucleotide variant Likely benign rs533504444 GRCh38 Chromosome 19, 55147008: 55147008
31 TNNT1 NC_000019.10: g.(?_55140863)_(55141322_?)del deletion Uncertain significance GRCh37 Chromosome 19, 55652231: 55652690
32 TNNT1 NC_000019.10: g.(?_55140863)_(55141322_?)del deletion Uncertain significance GRCh38 Chromosome 19, 55140863: 55141322
33 TNNT1 NM_003283.5(TNNT1): c.120dup (p.Lys41Glnfs) duplication Pathogenic rs1555859304 GRCh37 Chromosome 19, 55656920: 55656920
34 TNNT1 NM_003283.5(TNNT1): c.120dup (p.Lys41Glnfs) duplication Pathogenic rs1555859304 GRCh38 Chromosome 19, 55145552: 55145552
35 TNNT1 NM_003283.5(TNNT1): c.566G> A (p.Arg189His) single nucleotide variant Uncertain significance rs770079408 GRCh38 Chromosome 19, 55137148: 55137148
36 TNNT1 NM_003283.5(TNNT1): c.566G> A (p.Arg189His) single nucleotide variant Uncertain significance rs770079408 GRCh37 Chromosome 19, 55648516: 55648516
37 TNNT1 NM_003283.5(TNNT1): c.788A> G (p.Lys263Arg) single nucleotide variant Uncertain significance rs377276702 GRCh38 Chromosome 19, 55133890: 55133890
38 TNNT1 NM_003283.5(TNNT1): c.788A> G (p.Lys263Arg) single nucleotide variant Uncertain significance rs377276702 GRCh37 Chromosome 19, 55645258: 55645258
39 TNNT1 NM_003283.5(TNNT1): c.388-11_388-8delACTT deletion Uncertain significance rs1555857020 GRCh38 Chromosome 19, 55138082: 55138085
40 TNNT1 NM_003283.5(TNNT1): c.388-11_388-8delACTT deletion Uncertain significance rs1555857020 GRCh37 Chromosome 19, 55649450: 55649453
41 TNNT1 NM_003283.5(TNNT1): c.725C> T (p.Ala242Val) single nucleotide variant Uncertain significance rs779112211 GRCh38 Chromosome 19, 55134091: 55134091
42 TNNT1 NM_003283.5(TNNT1): c.725C> T (p.Ala242Val) single nucleotide variant Uncertain significance rs779112211 GRCh37 Chromosome 19, 55645459: 55645459
43 TNNT1 NM_003283.5(TNNT1): c.523C> G (p.Arg175Gly) single nucleotide variant Uncertain significance rs780372739 GRCh38 Chromosome 19, 55137191: 55137191
44 TNNT1 NM_003283.5(TNNT1): c.523C> G (p.Arg175Gly) single nucleotide variant Uncertain significance rs780372739 GRCh37 Chromosome 19, 55648559: 55648559
45 TNNT1 NC_000019.10: g.(?_55140863)_(55147177_?)del deletion Pathogenic GRCh37 Chromosome 19, 55652231: 55658545
46 TNNT1 NC_000019.10: g.(?_55140863)_(55147177_?)del deletion Pathogenic GRCh38 Chromosome 19, 55140863: 55147177
47 TNNT1 NM_003283.5(TNNT1): c.508C> G (p.Gln170Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 55137206: 55137206
48 TNNT1 NM_003283.5(TNNT1): c.508C> G (p.Gln170Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 55648574: 55648574
49 TNNT1 NM_003283.5(TNNT1): c.515G> A (p.Arg172His) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 55648567: 55648567
50 TNNT1 NM_003283.5(TNNT1): c.515G> A (p.Arg172His) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 55137199: 55137199

Expression for Nemaline Myopathy 5

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

Pathways for Nemaline Myopathy 5

Pathways related to Nemaline Myopathy 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.05 CTSH TPP1
2 10.64 CTSH DNM1

GO Terms for Nemaline Myopathy 5

Molecular functions related to Nemaline Myopathy 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 8.62 CTSH TPP1

Sources for Nemaline Myopathy 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....