NEM5
MCID: NML006
MIFTS: 34

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 57 12 75 29 6 15 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 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 : 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.

Wikipedia : 76 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

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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
2 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
3 neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001319
4 respiratory insufficiency due to muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002747
5 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
6 type 1 muscle fiber predominance 59 32 frequent (33%) Frequent (79-30%) HP:0003803
7 shoulder flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0003044
8 hip contracture 59 32 frequent (33%) Frequent (79-30%) HP:0003273
9 proximal amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007126
10 progressive muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003323
11 intellectual disability 59 Excluded (0%)
12 respiratory insufficiency 32 HP:0002093
13 myopathy 32 HP:0003198
14 emg: myopathic abnormalities 59 Frequent (79-30%)
15 nemaline bodies 32 HP:0003798
16 rigidity 32 HP:0002063
17 delayed gross motor development 32 HP:0002194
18 decreased hip abduction 32 HP:0003184
19 abnormality of the rib cage 32 HP:0001547
20 emg 32 frequent (33%) HP:0003458

MGI Mouse Phenotypes related to Nemaline Myopathy 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 OMP PKLR POR PPRC1 TNXB 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 29 TNNT1

Anatomical Context for Nemaline Myopathy 5

MalaCards organs/tissues related to Nemaline Myopathy 5:

41
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
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 top 50) (show all 56)
# 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 GRCh37 Chromosome 19, 55652663: 55652663
16 TNNT1 NM_003283.5(TNNT1): c.200A> G (p.His67Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 55141295: 55141295
17 TNNT1 NM_003283.5(TNNT1): c.32+5G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 55658489: 55658489
18 TNNT1 NM_003283.5(TNNT1): c.32+5G> A single nucleotide variant Uncertain significance 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 GRCh37 Chromosome 19, 55644330: 55644330
26 TNNT1 NM_003283.5(TNNT1): c.792-2A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 55132962: 55132962
27 TNNT1 NM_003283.5(TNNT1): c.780C> T (p.His260=) single nucleotide variant Benign rs78810486 GRCh37 Chromosome 19, 55645266: 55645266
28 TNNT1 NM_003283.5(TNNT1): c.780C> T (p.His260=) single nucleotide variant Benign rs78810486 GRCh38 Chromosome 19, 55133898: 55133898
29 TNNT1 NM_003283.5(TNNT1): c.31_32+1delGAG deletion Pathogenic rs944152647 GRCh38 Chromosome 19, 55147125: 55147127
30 TNNT1 NM_003283.5(TNNT1): c.31_32+1delGAG deletion Pathogenic rs944152647 GRCh37 Chromosome 19, 55658493: 55658495
31 TNNT1 NM_003283.5(TNNT1): c.46G> C (p.Glu16Gln) single nucleotide variant Likely benign rs533504444 GRCh37 Chromosome 19, 55658376: 55658376
32 TNNT1 NM_003283.5(TNNT1): c.46G> C (p.Glu16Gln) single nucleotide variant Likely benign rs533504444 GRCh38 Chromosome 19, 55147008: 55147008
33 TNNT1 NC_000019.10: g.(?_55140863)_(55141322_?)del deletion Uncertain significance GRCh37 Chromosome 19, 55652231: 55652690
34 TNNT1 NC_000019.10: g.(?_55140863)_(55141322_?)del deletion Uncertain significance GRCh38 Chromosome 19, 55140863: 55141322
35 TNNT1 NM_003283.5(TNNT1): c.120dup (p.Lys41Glnfs) duplication Pathogenic GRCh37 Chromosome 19, 55656920: 55656920
36 TNNT1 NM_003283.5(TNNT1): c.120dup (p.Lys41Glnfs) duplication Pathogenic GRCh38 Chromosome 19, 55145552: 55145552
37 TNNT1 NM_003283.5(TNNT1): c.566G> A (p.Arg189His) single nucleotide variant Uncertain significance rs770079408 GRCh38 Chromosome 19, 55137148: 55137148
38 TNNT1 NM_003283.5(TNNT1): c.566G> A (p.Arg189His) single nucleotide variant Uncertain significance rs770079408 GRCh37 Chromosome 19, 55648516: 55648516
39 TNNT1 NM_003283.5(TNNT1): c.788A> G (p.Lys263Arg) single nucleotide variant Uncertain significance rs377276702 GRCh38 Chromosome 19, 55133890: 55133890
40 TNNT1 NM_003283.5(TNNT1): c.788A> G (p.Lys263Arg) single nucleotide variant Uncertain significance rs377276702 GRCh37 Chromosome 19, 55645258: 55645258
41 TNNT1 NM_003283.5(TNNT1): c.388-11_388-8delACTT deletion Uncertain significance GRCh38 Chromosome 19, 55138082: 55138085
42 TNNT1 NM_003283.5(TNNT1): c.388-11_388-8delACTT deletion Uncertain significance GRCh37 Chromosome 19, 55649450: 55649453
43 TNNT1 NM_003283.5(TNNT1): c.725C> T (p.Ala242Val) single nucleotide variant Uncertain significance rs779112211 GRCh38 Chromosome 19, 55134091: 55134091
44 TNNT1 NM_003283.5(TNNT1): c.725C> T (p.Ala242Val) single nucleotide variant Uncertain significance rs779112211 GRCh37 Chromosome 19, 55645459: 55645459
45 TNNT1 NM_003283.5(TNNT1): c.523C> G (p.Arg175Gly) single nucleotide variant Uncertain significance rs780372739 GRCh38 Chromosome 19, 55137191: 55137191
46 TNNT1 NM_003283.5(TNNT1): c.523C> G (p.Arg175Gly) single nucleotide variant Uncertain significance rs780372739 GRCh37 Chromosome 19, 55648559: 55648559
47 TNNT1 NC_000019.10: g.(?_55140863)_(55147177_?)del deletion Pathogenic GRCh37 Chromosome 19, 55652231: 55658545
48 TNNT1 NC_000019.10: g.(?_55140863)_(55147177_?)del deletion Pathogenic GRCh38 Chromosome 19, 55140863: 55147177
49 TNNT1 NM_003283.5(TNNT1): c.508C> G (p.Gln170Glu) single nucleotide variant Uncertain significance rs62126315 GRCh38 Chromosome 19, 55137206: 55137206
50 TNNT1 NM_003283.5(TNNT1): c.508C> G (p.Gln170Glu) single nucleotide variant Uncertain significance rs62126315 GRCh37 Chromosome 19, 55648574: 55648574

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

Biological processes related to Nemaline Myopathy 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to nutrient GO:0007584 8.62 PKLR POR

Sources for Nemaline Myopathy 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
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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