Nemaline Myopathy 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Nemaline Myopathy 5

MalaCards integrated aliases for Nemaline Myopathy 5:

Name: Nemaline Myopathy 5 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ⁴³ ¹⁴ ⁷¹

Amish Nemaline Myopathy ⁵⁷ ¹¹ ¹⁹ ⁵⁸ ⁷³

Nem5 ⁵⁷ ¹¹ ¹⁹ ⁷³

Anm ⁵⁷ ¹¹ ¹⁹ ⁷³

Nemaline Myopathy 5, Amish Type ⁵⁷ ¹¹ ¹⁹

Nemaline Myopathy, Amish Type ⁵⁷ ¹⁹ ¹²

Nemaline Myopathy, Caused by Mutation in the Troponin T1 Gene ¹⁹

Tnnt1-Related Nemaline Myopathy ⁷³

Nemaline Myopathy Amish Type ⁷³

Myopathy, Nemaline, Type 5 ³⁸

Nemaline Myopathy, Type 5 ⁷⁵

Characteristics:

Inheritance:

Nemaline Myopathy 5: Autosomal recessive ⁵⁷

Amish Nemaline Myopathy: Autosomal recessive ⁵⁸

Prevelance:

Amish Nemaline Myopathy: >1/1000 (Specific population) ⁵⁸

Age Of Onset:

Amish Nemaline Myopathy: Neonatal ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in infancy
death secondary to respiratory insufficiency
all cases occur in old order amish, lancaster county, pennsylvania

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Muscle diseases Respiratory diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹¹ DOID:0110936

OMIM® ⁵⁷ 605355

OMIM Phenotypic Series ⁵⁷ PS161800

MeSH ⁴³ C538397 D017696

ICD10 via Orphanet ³² G71.2

Orphanet ⁵⁸ ORPHA98902

MedGen ⁴⁰ C1854380

SNOMED-CT via HPO ⁶⁹ 129565002 202265005 202283002 more

UMLS ⁷¹ C1854380

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Summaries for Nemaline Myopathy 5

UniProtKB/Swiss-Prot: ⁷³ 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.

MalaCards based summary: Nemaline Myopathy 5, also known as amish nemaline myopathy, is related to nemaline myopathy and dilated cardiomyopathy. An important gene associated with Nemaline Myopathy 5 is TNNT1 (Troponin T1, Slow Skeletal Type), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, and related phenotypes are tremor and pectus carinatum

Disease Ontology: ¹¹ A nemaline myopathy that has material basis in homozygous mutation in the TNNT1 gene on chromosome 19q13.

GARD: ¹⁹ A type of nemaline myopathy (NM) only observed in several families of the Amish community.

Orphanet: ⁵⁸ A type of nemaline myopathy (NM) only observed in several families of the Amish community.

Wikipedia: ⁷⁵ Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary... more...

More information from OMIM: 605355 PS161800

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Related Diseases for Nemaline Myopathy 5

Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 3	Nemaline Myopathy 2
Nemaline Myopathy 5	Nemaline Myopathy 6
Nemaline Myopathy 1	Nemaline Myopathy 4
Nemaline Myopathy 7	Nemaline Myopathy 8
Nemaline Myopathy 9	Nemaline Myopathy 10
Nemaline Myopathy 11, Autosomal Recessive	Adult-Onset Nemaline Myopathy
Intermediate Congenital Nemaline Myopathy	Severe Congenital Nemaline Myopathy
Congenital Nemaline Myopathy

Diseases related to Nemaline Myopathy 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)

#	Related Disease	Score	Top Affiliating Genes
1	nemaline myopathy	30.0	TPM2 TNNT1 NEB
2	dilated cardiomyopathy	29.3	TPM2 TNNT1 TNNI3 TNNI1 NEB
3	myopathy	28.3	TPM2 TNNT1 TNNI3 TNNI2 NEB LMOD3
4	tremor	10.2
5	congenital nemaline myopathy	10.2
6	arthrogryposis, distal, type 2b2	10.2	TNNT3 TNNT1
7	nemaline myopathy 9	10.1	LMOD3 KBTBD13
8	nemaline myopathy 10	10.1	LMOD3 KBTBD13
9	congenital hemidysplasia with ichthyosiform erythroderma and limb defects	10.1
10	respiratory failure	10.1
11	children's interstitial lung disease	10.1
12	pectus carinatum	10.1
13	hypotonia	10.1
14	severe congenital nemaline myopathy	10.1	NEB LMOD3
15	myopathy, spheroid body	10.1	NEB LMOD3
16	inferior myocardial infarction	10.0	TNNT1 TNNI3
17	left bundle branch hemiblock	10.0	TNNT1 TNNI3
18	central core disease of muscle	10.0	NEB KBTBD13
19	coronary artery vasospasm	10.0	TNNT1 TNNI3
20	immunoglobulin light chain amyloidosis	10.0	TNNT1 TNNI3
21	hyaline body myopathy	10.0	TPM2 NEB
22	gas gangrene	10.0	TNNT1 TNNI3
23	myocardial stunning	10.0	TNNT1 TNNI3
24	acute myocarditis	10.0	TNNT1 TNNI3
25	tricuspid valve insufficiency	10.0	TNNT1 TNNI3
26	nonobstructive coronary artery disease	10.0	TNNT1 TNNI3
27	tricuspid valve disease	10.0	TNNT1 TNNI3
28	spinal cord disease	10.0
29	paraplegia	10.0
30	cerebellar degeneration	10.0
31	mitral valve insufficiency	9.9	TNNT1 TNNI3
32	pericardium disease	9.9	TNNT1 TNNI3
33	mitral valve disease	9.9	TNNT1 TNNI3
34	childhood-onset nemaline myopathy	9.9	TPM2 NEB KBTBD13
35	pulmonary artery disease	9.9	TNNT1 TNNI3
36	restrictive cardiomyopathy	9.9	TNNT1 TNNI3 TNNI1
37	myopathy, distal, 1	9.9	TPM2 NEB KBTBD13
38	typical congenital nemaline myopathy	9.9	TPM2 NEB LMOD3
39	multiminicore disease	9.9	TPM2 NEB KBTBD13
40	centronuclear myopathy	9.9	TPM2 NEB KBTBD13
41	intermediate coronary syndrome	9.9	TNNT1 TNNI3
42	congenital myasthenic syndrome	9.8	TPM2 NEB KBTBD13
43	nemaline myopathy 8	9.8	TNNT3 NEB LMOD3 KBTBD13
44	pericardial effusion	9.8	TNNT1 TNNI3
45	nemaline myopathy 2	9.8	TNNI1 NEB LMOD3 KBTBD13
46	cardiomyopathy, dilated, 1m	9.8	TNNI3 TNNI2
47	extrinsic cardiomyopathy	9.7	TNNT1 TNNI3
48	arthrogryposis, distal, type 10	9.7	TPM2 TNNT3 TNNI2
49	fissured tongue	9.7	TPM2 TNNT3 TNNI2
50	arthrogryposis, distal, type 2b1	9.7	TPM2 TNNT3 TNNI2

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

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Symptoms & Phenotypes for Nemaline Myopathy 5

Human phenotypes related to Nemaline Myopathy 5:

⁵⁸ ³⁰ (show all 18)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	tremor ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001337
2	pectus carinatum ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000768
3	neonatal hypotonia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001319
4	emg: myopathic abnormalities ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003458
5	motor delay ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001270
6	type 1 muscle fiber predominance ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003803
7	shoulder flexion contracture ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003044
8	hip contracture ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003273
9	progressive muscle weakness ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003323
10	proximal amyotrophy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007126
11	respiratory insufficiency due to muscle weakness ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002747
12	intellectual disability ⁵⁸		Excluded (0%)
13	respiratory insufficiency ³⁰			HP:0002093
14	myopathy ³⁰			HP:0003198
15	nemaline bodies ³⁰			HP:0003798
16	delayed gross motor development ³⁰			HP:0002194
17	decreased hip abduction ³⁰			HP:0003184
18	z-band streaming ³⁰			HP:0020203

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Nemaline Myopathy 5:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.1	KBTBD13 LMOD3 NEB TNNI3 TNNT1 TNNT3

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Drugs & Therapeutics for Nemaline Myopathy 5

Search Clinical Trials, NIH Clinical Center for Nemaline Myopathy 5

Cochrane evidence based reviews: nemaline myopathy 5

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Genetic Tests for Nemaline Myopathy 5

Genetic tests related to Nemaline Myopathy 5:

#	Genetic test	Affiliating Genes
1	Nemaline Myopathy 5 ²⁸	TNNT1

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Anatomical Context for Nemaline Myopathy 5

Organs/tissues related to Nemaline Myopathy 5:

MalaCards : Skeletal Muscle

ODiseA: Skeletal Muscle

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Publications for Nemaline Myopathy 5

Articles related to Nemaline Myopathy 5:

(show all 21)

#	Title	Authors	PMID	Year
1	A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. ⁶² ⁵⁷ ⁵	Johnston JJ...Biesecker LG	10952871	2000
2	TNNT1 nemaline myopathy: natural history and therapeutic frontier. ⁶² ⁵⁷	Fox MD...Strauss KA	29931346	2018
3	Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish. ⁶² ⁵	Marra JD...Chiriboga CA	25430424	2015
4	Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. ⁶² ⁵	Wang X...Jin JP	15665378	2005
5	Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. ⁶² ⁵	Jin JP...Crawford TO	12732643	2003
6	Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies. ⁵	Amarasinghe C...Jin JP	27429059	2016
7	Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. ⁵	van der Pol WL...van Haelst MM	24689076	2014
8	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
9	Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings. ⁶²	Zambon AA...Muntoni F	35249790	2022
10	Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient. ⁶²	Petrucci A...Servidei S	33832840	2021
11	Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. ⁶²	Streff H...Lalani SR	30395933	2019
12	'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene. ⁶²	D'Amico A...Bertini E	31604653	2019
13	The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy. ⁶²	Oki K...Jin JP	31148174	2019
14	Deficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and decreases tolerance to fatigue. ⁶²	Wei B...Jin JP	24445317	2014
15	Spectrum of congenital myopathies: a single centre experience. ⁶²	Uppin MS...Sundaram C	23860144	2013
16	Transactivation of the human NME5 gene by Sp1 in pancreatic cancer cells. ⁶²	Li F...Zhang L	22564704	2012
17	Congenital myopathies: clinical and immunohistochemical study. ⁶²	Thaha F...Nalini A	22234203	2011
18	Deletion of a genomic segment containing the cardiac troponin I gene knocks down expression of the slow troponin T gene and impairs fatigue tolerance of diaphragm muscle. ⁶²	Feng HZ...Jin JP	19797054	2009
19	Nonmyofilament-associated troponin T fragments induce apoptosis. ⁶²	Jeong EM...Jin JP	19395545	2009
20	Congenital myopathies in Israeli families. ⁶²	Weiss K...Nevo Y	17641259	2007
21	[Nemaline myopathy--5 cases from 3 families--clinical and histological studies]. ⁶²	Yuasa T...Kushiro S	557399	1977

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Genes for Nemaline Myopathy 5

Genes related to Nemaline Myopathy 5 (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TNNT1	Troponin T1, Slow Skeletal Type	Protein Coding	1390.27	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	10952871 12732643 15665378 (more) 24689076 25430424 27429059 16199547
2	TNNT3	Troponin T3, Fast Skeletal Type	Protein Coding	6.8	DISEASES inferred ¹⁴
3	TNNI1	Troponin I1, Slow Skeletal Type	Protein Coding	6.08	DISEASES inferred ¹⁴
4	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	5.55	DISEASES inferred ¹⁴
5	LMOD3	Leiomodin 3	Protein Coding	5.53	DISEASES inferred ¹⁴
6	NEB	Nebulin	Protein Coding	5.37	DISEASES inferred ¹⁴
7	TNNC2	Troponin C2, Fast Skeletal Type	Protein Coding	5.36	DISEASES inferred ¹⁴
8	TPM2	Tropomyosin 2	Protein Coding	5.18	DISEASES inferred ¹⁴
9	TNNI3	Troponin I3, Cardiac Type	Protein Coding	5.1	DISEASES inferred ¹⁴
10	TNNI2	Troponin I2, Fast Skeletal Type	Protein Coding	5.02	DISEASES inferred ¹⁴
11	JKAMP	JNK1/MAPK8 Associated Membrane Protein	Protein Coding	4.95	DISEASES inferred ¹⁴

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Variations for Nemaline Myopathy 5

ClinVar genetic disease variations for Nemaline Myopathy 5:

⁵ (show top 50) (show all 190)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TNNT1	NC_000019.10:g.(?_55140863)_(55147177_?)del	DEL	Pathogenic	583940		GRCh37: 19:55652231-55658545 GRCh38: 19:55140863-55147177
2	TNNT1	NC_000019.10:g.(?_55140873)_(55147167_?)del	DEL	Pathogenic	660688		GRCh37: 19:55652241-55658535 GRCh38: 19:55140873-55147167
3	TNNT1	NM_003283.6(TNNT1):c.353del (p.Thr118fs)	DEL	Pathogenic	870626	rs2085439767	GRCh37: 19:55652285-55652285 GRCh38: 19:55140917-55140917
4	TNNT1	NC_000019.9:g.(?_55652231)_(55658525_?)del	DEL	Pathogenic	1455710		GRCh37: 19:55652231-55658525 GRCh38:
5	TNNT1	NM_003283.6(TNNT1):c.415G>T (p.Glu139Ter)	SNV	Pathogenic	1456474		GRCh37: 19:55649415-55649415 GRCh38: 19:55138047-55138047
6	TNNT1	NM_003283.6(TNNT1):c.78del (p.Glu27fs)	DEL	Pathogenic	1452357		GRCh37: 19:55657830-55657830 GRCh38: 19:55146462-55146462
7	TNNT1	NM_003283.6(TNNT1):c.695dup (p.Leu233fs)	DUP	Pathogenic	949099	rs2085299661	GRCh37: 19:55645488-55645489 GRCh38: 19:55134120-55134121
8	TNNT1	NM_003283.6(TNNT1):c.120dup (p.Lys41fs)	DUP	Pathogenic	534399	rs1555859304	GRCh37: 19:55656919-55656920 GRCh38: 19:55145551-55145552
9	TNNT1	NM_003283.6(TNNT1):c.452del (p.Lys151fs)	DEL	Pathogenic	978511	rs2085385176	GRCh37: 19:55649378-55649378 GRCh38: 19:55138010-55138010
10	TNNT1	NC_000019.9:g.(?_55652544)_(55656943_?)del	DEL	Pathogenic	1413567		GRCh37: 19:55652544-55656943 GRCh38:
11	overlap with 2 genes	GRCh37/hg19 19q13.42(chr19:55652193-55665240)	CN LOSS	Pathogenic	625672		GRCh37: 19:55652193-55665240 GRCh38:
12	overlap with 2 genes	NC_000019.10:g.(?_55140863)_(55151937_?)del	DEL	Pathogenic	651255		GRCh37: 19:55652231-55663305 GRCh38: 19:55140863-55151937
13	TNNT1	NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter)	SNV	Pathogenic	12440	rs80358249	GRCh37: 19:55648544-55648544 GRCh38: 19:55137176-55137176
14	TNNT1	NM_003283.6(TNNT1):c.387+1G>A	SNV	Likely Pathogenic	1481323		GRCh37: 19:55652250-55652250 GRCh38: 19:55140882-55140882
15	TNNT1	NM_003283.6(TNNT1):c.502-2A>G	SNV	Likely Pathogenic	569105	rs1156410888	GRCh37: 19:55648582-55648582 GRCh38: 19:55137214-55137214
16	TNNT1	NM_003283.6(TNNT1):c.1A>G (p.Met1Val)	SNV	Likely Pathogenic	870625	rs2085575423	GRCh37: 19:55658525-55658525 GRCh38: 19:55147157-55147157
17	TNNT1	NM_003283.6(TNNT1):c.501+1G>A	SNV	Likely Pathogenic	1066598		GRCh37: 19:55649328-55649328 GRCh38: 19:55137960-55137960
18	TNNT1	NM_003283.6(TNNT1):c.611+1dup	DUP	Likely Pathogenic	1325207		GRCh37: 19:55648469-55648470 GRCh38: 19:55137101-55137102
19	TNNT1	NM_003283.6(TNNT1):c.606_607insTAGTG (p.Leu203Ter)	INSERT	Likely Pathogenic	804429	rs1599875856	GRCh37: 19:55648475-55648476 GRCh38: 19:55137107-55137108
20	TNNT1	NM_003283.6(TNNT1):c.32+5G>A	SNV	Likely Pathogenic	465995	rs1555859876	GRCh37: 19:55658489-55658489 GRCh38: 19:55147121-55147121
21	TNNT1	NM_003283.6(TNNT1):c.792-2A>G	SNV	Likely Pathogenic	465998	rs1555855228	GRCh37: 19:55644330-55644330 GRCh38: 19:55132962-55132962
22	TNNT1	NM_003283.6(TNNT1):c.47-6C>G	SNV	Conflicting Interpretations Of Pathogenicity	259031	rs375682055	GRCh37: 19:55658081-55658081 GRCh38: 19:55146713-55146713
23	TNNT1	NM_003283.6(TNNT1):c.751-5C>T	SNV	Conflicting Interpretations Of Pathogenicity	259035	rs192248377	GRCh37: 19:55645300-55645300 GRCh38: 19:55133932-55133932
24	TNNT1	NM_003283.6(TNNT1):c.750+15C>T	SNV	Conflicting Interpretations Of Pathogenicity	330192	rs138664823	GRCh37: 19:55645419-55645419 GRCh38: 19:55134051-55134051
25	TNNT1	NM_003283.6(TNNT1):c.611+12G>T	SNV	Conflicting Interpretations Of Pathogenicity	330193	rs376456377	GRCh37: 19:55648459-55648459 GRCh38: 19:55137091-55137091
26	TNNT1	NM_003283.6(TNNT1):c.791+12C>T	SNV	Conflicting Interpretations Of Pathogenicity	330190	rs201143291	GRCh37: 19:55645243-55645243 GRCh38: 19:55133875-55133875
27	TNNT1	NM_003283.6(TNNT1):c.611+12G>A	SNV	Conflicting Interpretations Of Pathogenicity	388590	rs376456377	GRCh37: 19:55648459-55648459 GRCh38: 19:55137091-55137091
28	TNNT1	NM_003283.6(TNNT1):c.366C>T (p.Arg122=)	SNV	Conflicting Interpretations Of Pathogenicity	894348	rs375999352	GRCh37: 19:55652272-55652272 GRCh38: 19:55140904-55140904
29	TNNT1	NM_003283.6(TNNT1):c.279A>G (p.Glu93=)	SNV	Conflicting Interpretations Of Pathogenicity	31856	rs34313388	GRCh37: 19:55652584-55652584 GRCh38: 19:55141216-55141216
30	TNNT1	NM_003283.6(TNNT1):c.310-14T>C	SNV	Conflicting Interpretations Of Pathogenicity	383122	rs115663668	GRCh37: 19:55652342-55652342 GRCh38: 19:55140974-55140974
31	TNNT1	NM_003283.6(TNNT1):c.355G>A (p.Glu119Lys)	SNV	Uncertain Significance	330194	rs752992299	GRCh37: 19:55652283-55652283 GRCh38: 19:55140915-55140915
32	TNNT1	NM_003283.6(TNNT1):c.582C>A (p.Asp194Glu)	SNV	Uncertain Significance	1484371		GRCh37: 19:55648500-55648500 GRCh38: 19:55137132-55137132
33	TNNT1	NM_003283.6(TNNT1):c.31_32+1del	MICROSAT	Uncertain Significance	497007	rs944152647	GRCh37: 19:55658493-55658495 GRCh38: 19:55147125-55147127
34	overlap with 11 genes	NC_000019.9:g.(?_55644273)_(55768277_?)dup	DUP	Uncertain Significance	648531		GRCh37: 19:55644273-55768277 GRCh38: 19:55132905-55256909
35	TNNT1	NM_003283.6(TNNT1):c.376G>C (p.Ala126Pro)	SNV	Uncertain Significance	1714554		GRCh37: 19:55652262-55652262 GRCh38: 19:55140894-55140894
36	TNNT1	NM_003283.6(TNNT1):c.746A>G (p.Tyr249Cys)	SNV	Uncertain Significance	1713944		GRCh37: 19:55645438-55645438 GRCh38: 19:55134070-55134070
37	TNNT1	NM_003283.6(TNNT1):c.569A>G (p.Lys190Arg)	SNV	Uncertain Significance	934525	rs2085359836	GRCh37: 19:55648513-55648513 GRCh38: 19:55137145-55137145
38	TNNT1	NM_003283.6(TNNT1):c.585T>G (p.Ile195Met)	SNV	Uncertain Significance	934742	rs2085359369	GRCh37: 19:55648497-55648497 GRCh38: 19:55137129-55137129
39	TNNT1	NM_003283.6(TNNT1):c.311A>T (p.Glu104Val)	SNV	Uncertain Significance	940131	rs2085441049	GRCh37: 19:55652327-55652327 GRCh38: 19:55140959-55140959
40	TNNT1	NM_003283.6(TNNT1):c.308T>C (p.Ile103Thr)	SNV	Uncertain Significance	940599	rs1050413432	GRCh37: 19:55652555-55652555 GRCh38: 19:55141187-55141187
41	TNNT1	NM_003283.6(TNNT1):c.284A>G (p.Glu95Gly)	SNV	Uncertain Significance	947022	rs1308212644	GRCh37: 19:55652579-55652579 GRCh38: 19:55141211-55141211
42	TNNT1	NM_003283.6(TNNT1):c.550C>T (p.Arg184Cys)	SNV	Uncertain Significance	949441	rs12976760	GRCh37: 19:55648532-55648532 GRCh38: 19:55137164-55137164
43	TNNT1	NM_003283.6(TNNT1):c.460C>G (p.Leu154Val)	SNV	Uncertain Significance	962524	rs2085384859	GRCh37: 19:55649370-55649370 GRCh38: 19:55138002-55138002
44	TNNT1	NM_003283.6(TNNT1):c.711G>T (p.Lys237Asn)	SNV	Uncertain Significance	962593	rs920784477	GRCh37: 19:55645473-55645473 GRCh38: 19:55134105-55134105
45	TNNT1	NM_003283.6(TNNT1):c.723G>A (p.Met241Ile)	SNV	Uncertain Significance	962709	rs2085298945	GRCh37: 19:55645461-55645461 GRCh38: 19:55134093-55134093
46	TNNT1	NM_003283.6(TNNT1):c.26A>G (p.Tyr9Cys)	SNV	Uncertain Significance	969432	rs1449981150	GRCh37: 19:55658500-55658500 GRCh38: 19:55147132-55147132
47	TNNT1	NM_003283.6(TNNT1):c.5C>G (p.Ser2Trp)	SNV	Uncertain Significance	1000388	rs1041234929	GRCh37: 19:55658521-55658521 GRCh38: 19:55147153-55147153
48	TNNT1	NM_003283.6(TNNT1):c.207G>T (p.Lys69Asn)	SNV	Uncertain Significance	1010087	rs2085449480	GRCh37: 19:55652656-55652656 GRCh38: 19:55141288-55141288
49	TNNT1	NM_003283.6(TNNT1):c.309+6C>T	SNV	Uncertain Significance	1015747	rs932070035	GRCh37: 19:55652548-55652548 GRCh38: 19:55141180-55141180
50	TNNT1	NM_003283.6(TNNT1):c.136G>A (p.Val46Met)	SNV	Uncertain Significance	1022550	rs778199645	GRCh37: 19:55653281-55653281 GRCh38: 19:55141913-55141913

Sources

Expression for Nemaline Myopathy 5

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

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Pathways for Nemaline Myopathy 5

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

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 2 - plateau phase ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.29	TPM2 TNNT3 TNNT1 TNNI3 TNNI2 TNNI1
2	Striated muscle contraction pathway ⁷⁴ Show member pathways Striated Muscle Contraction ⁶⁶	11.09	TPM2 TNNT3 TNNT1 TNNI3 TNNI2 TNNI1

Sources

GO Terms for Nemaline Myopathy 5

Cellular components related to Nemaline Myopathy 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	troponin complex	GO:0005861	9.4	TNNT3 TNNT1 TNNI3 TNNI2 TNNI1 TNNC2
2	contractile fiber	GO:0043292	8.96	TNNI3 NEB

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	actin filament organization	GO:0007015	9.95	TPM2 LMOD3 KBTBD13
2	sarcomere organization	GO:0045214	9.81	TNNT3 TNNT1
3	ventricular cardiac muscle tissue morphogenesis	GO:0055010	9.8	TNNI3 TNNI1
4	cardiac muscle contraction	GO:0060048	9.8	TNNI3 TNNI2 TNNI1
5	muscle contraction	GO:0006936	9.8	TPM2 TNNT3 TNNT1 TNNI3 TNNI2 TNNI1
6	regulation of ATP-dependent activity	GO:0043462	9.73	TPM2 TNNT3
7	regulation of striated muscle contraction	GO:0006942	9.71	TNNT3 TNNI1
8	regulation of muscle contraction	GO:0006937	9.7	TNNT3 TNNT1 TNNI3 TNNI2 TNNC2
9	transition between fast and slow fiber	GO:0014883	9.67	TNNT1 TNNI1
10	striated muscle contraction	GO:0006941	9.63	TNNI3 LMOD3
11	skeletal muscle contraction	GO:0003009	9.4	TNNT3 TNNT1 TNNI3 TNNI2 TNNI1 TNNC2
12	regulation of system process	GO:0044057	9.26	TNNT1 TNNT3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	actin filament binding	GO:0051015	9.96	TPM2 TNNI3 TNNC2 NEB KBTBD13
2	calcium-dependent protein binding	GO:0048306	9.85	TNNT3 TNNI3 TNNC2
3	tropomyosin binding	GO:0005523	9.63	LMOD3 TNNT1 TNNT3
4	troponin C binding	GO:0030172	9.62	TNNT3 TNNI3
5	actin binding	GO:0003779	9.44	TPM2 TNNT3 TNNI3 TNNI2 TNNI1 TNNC2
6	troponin T binding	GO:0031014	9.43	TNNT1 TNNI3 TNNI2

Sources

Sources for Nemaline Myopathy 5

¹ BitterDB

² CDC

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⁴⁰ MedGen

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⁵¹ NIH Clinical Center

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⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶¹ PubChem

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⁶⁵ R&D Systems

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

NEM5 MCID: NML006 MIFTS: 45	Nemaline Myopathy 5 (NEM5) Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Nemaline Myopathy 5 (NEM5)

Aliases & Classifications for Nemaline Myopathy 5

MalaCards integrated aliases for Nemaline Myopathy 5:

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Summaries for Nemaline Myopathy 5

Related Diseases for Nemaline Myopathy 5

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:

Symptoms & Phenotypes for Nemaline Myopathy 5

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Expression for Nemaline Myopathy 5

Pathways for Nemaline Myopathy 5

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

GO Terms for Nemaline Myopathy 5

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:

Sources for Nemaline Myopathy 5