Nemaline Myopathy 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

NEM6 MCID: NML007 MIFTS: 23	Nemaline Myopathy 6 (NEM6) Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Nemaline Myopathy 6

MalaCards integrated aliases for Nemaline Myopathy 6:

Name: Nemaline Myopathy 6 ⁵⁸ ¹² ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Nemaline Myopathy 6, Autosomal Dominant ⁵⁸ ¹²

Nem6 ⁵⁸ ⁷⁶

Myopathy, Nemaline, Type 6 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
slow progression
onset in early childhood

HPO:

³³

nemaline myopathy 6:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110935

OMIM ⁵⁸ 609273

MeSH ⁴⁵ D017696

MedGen ⁴³ C1836472

SNOMED-CT via HPO ⁷⁰ 129565002 16046003 22325002 more

UMLS ⁷⁴ C1836472

Sources

Summaries for Nemaline Myopathy 6

OMIM : ⁵⁸ Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by Sambuughin et al., 2010). (609273)

MalaCards based summary : Nemaline Myopathy 6, is also known as nemaline myopathy 6, autosomal dominant, and has symptoms including muscular stiffness An important gene associated with Nemaline Myopathy 6 is KBTBD13 (Kelch Repeat And BTB Domain Containing 13). Affiliated tissues include skeletal muscle, and related phenotypes are gait disturbance and myopathy

Disease Ontology : ¹² A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has material basis in heterozygous mutation in the KBTBD13 gene on chromosome 15q22.

UniProtKB/Swiss-Prot : ⁷⁶ Nemaline myopathy 6: A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over.

Sources

Related Diseases for Nemaline Myopathy 6

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

Sources

Symptoms & Phenotypes for Nemaline Myopathy 6

Human phenotypes related to Nemaline Myopathy 6:

³³ (show all 9)

#	Description	HPO Source Accession
1	gait disturbance ³³	HP:0001288
2	myopathy ³³	HP:0003198
3	muscle stiffness ³³	HP:0003552
4	nemaline bodies ³³	HP:0003798
5	neck flexor weakness ³³	HP:0003722
6	exercise intolerance ³³	HP:0003546
7	limb muscle weakness ³³	HP:0003690
8	difficulty climbing stairs ³³	HP:0003551
9	difficulty running ³³	HP:0009046

Symptoms via clinical synopsis from OMIM:

⁵⁸

Muscle Soft Tissue:
muscle stiffness
emg shows myopathic changes
distal muscle weakness and atrophy
trunk muscle weakness
muscle biopsy shows nemaline bodies (rods) on gomori trichrome staining
more

Head And Neck Neck:
neck flexor muscle weakness

Neurologic Central Nervous System:
normal motor development
gait abnormalities due to muscle weakness

Head And Neck Face:
no facial weakness

Clinical features from OMIM:

609273

UMLS symptoms related to Nemaline Myopathy 6:

muscular stiffness

Sources

Drugs & Therapeutics for Nemaline Myopathy 6

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Muscle Relaxation in Myopathies With Positive Muscle Phenomena	Enrolling by invitation	NCT03211923

Search NIH Clinical Center for Nemaline Myopathy 6

Sources

Genetic Tests for Nemaline Myopathy 6

Genetic tests related to Nemaline Myopathy 6:

#	Genetic test	Affiliating Genes
1	Nemaline Myopathy 6 ³⁰	KBTBD13

Sources

Anatomical Context for Nemaline Myopathy 6

MalaCards organs/tissues related to Nemaline Myopathy 6:

⁴²

Skeletal Muscle

Sources

Publications for Nemaline Myopathy 6

Sources

Genes for Nemaline Myopathy 6

Genes related to Nemaline Myopathy 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	1329.56	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	21104864 21109227 20301465 (more) 22510848 12805120
2	RASL12	RAS Like Family 12	Protein Coding	9.56	GeneCards inferred via : Variants (show sections)

Sources

Variations for Nemaline Myopathy 6

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 6:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	KBTBD13	p.Arg248Ser	VAR_064889	rs200549195
2	KBTBD13	p.Lys390Asn	VAR_064890
3	KBTBD13	p.Arg408Cys	VAR_064891	rs387907090

ClinVar genetic disease variations for Nemaline Myopathy 6:

⁶ (show top 50) (show all 178)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KBTBD13	KBTBD13, LYS390ASN	single nucleotide variant	Pathogenic
2	KBTBD13	NM_001101362.2(KBTBD13): c.1222C> T (p.Arg408Cys)	single nucleotide variant	Pathogenic	rs387907090	GRCh37	Chromosome 15, 65370375: 65370375
3	KBTBD13	NM_001101362.2(KBTBD13): c.1222C> T (p.Arg408Cys)	single nucleotide variant	Pathogenic	rs387907090	GRCh38	Chromosome 15, 65078037: 65078037
4	KBTBD13	NM_001101362.2(KBTBD13): c.742C> A (p.Arg248Ser)	single nucleotide variant	Pathogenic	rs200549195	GRCh37	Chromosome 15, 65369895: 65369895
5	KBTBD13	NM_001101362.2(KBTBD13): c.742C> A (p.Arg248Ser)	single nucleotide variant	Pathogenic	rs200549195	GRCh38	Chromosome 15, 65077557: 65077557
6	KBTBD13	NM_001101362.2(KBTBD13): c.1128G> A (p.Thr376=)	single nucleotide variant	Benign/Likely benign	rs116623596	GRCh37	Chromosome 15, 65370281: 65370281
7	KBTBD13	NM_001101362.2(KBTBD13): c.1128G> A (p.Thr376=)	single nucleotide variant	Benign/Likely benign	rs116623596	GRCh38	Chromosome 15, 65077943: 65077943
8	KBTBD13	NM_001101362.2(KBTBD13): c.1197C> T (p.Arg399=)	single nucleotide variant	Benign/Likely benign	rs150830358	GRCh37	Chromosome 15, 65370350: 65370350
9	KBTBD13	NM_001101362.2(KBTBD13): c.1197C> T (p.Arg399=)	single nucleotide variant	Benign/Likely benign	rs150830358	GRCh38	Chromosome 15, 65078012: 65078012
10	KBTBD13	NM_001101362.2(KBTBD13): c.794G> A (p.Gly265Asp)	single nucleotide variant	Benign/Likely benign	rs146917406	GRCh37	Chromosome 15, 65369947: 65369947
11	KBTBD13	NM_001101362.2(KBTBD13): c.794G> A (p.Gly265Asp)	single nucleotide variant	Benign/Likely benign	rs146917406	GRCh38	Chromosome 15, 65077609: 65077609
12	KBTBD13	NM_001101362.2(KBTBD13): c.954C> G (p.Thr318=)	single nucleotide variant	Benign/Likely benign	rs368781046	GRCh37	Chromosome 15, 65370107: 65370107
13	KBTBD13	NM_001101362.2(KBTBD13): c.954C> G (p.Thr318=)	single nucleotide variant	Benign/Likely benign	rs368781046	GRCh38	Chromosome 15, 65077769: 65077769
14	KBTBD13	NM_001101362.2(KBTBD13): c.89G> A (p.Gly30Asp)	single nucleotide variant	Benign/Likely benign	rs138484272	GRCh38	Chromosome 15, 65076904: 65076904
15	KBTBD13	NM_001101362.2(KBTBD13): c.89G> A (p.Gly30Asp)	single nucleotide variant	Benign/Likely benign	rs138484272	GRCh37	Chromosome 15, 65369242: 65369242
16	KBTBD13	NM_001101362.2(KBTBD13): c.163G> A (p.Ala55Thr)	single nucleotide variant	Likely benign	rs551460635	GRCh37	Chromosome 15, 65369316: 65369316
17	KBTBD13	NM_001101362.2(KBTBD13): c.163G> A (p.Ala55Thr)	single nucleotide variant	Likely benign	rs551460635	GRCh38	Chromosome 15, 65076978: 65076978
18	KBTBD13	NM_001101362.2(KBTBD13): c.188A> T (p.Gln63Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202004658	GRCh38	Chromosome 15, 65077003: 65077003
19	KBTBD13	NM_001101362.2(KBTBD13): c.188A> T (p.Gln63Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202004658	GRCh37	Chromosome 15, 65369341: 65369341
20	KBTBD13	NM_001101362.2(KBTBD13): c.214C> T (p.Leu72=)	single nucleotide variant	Likely benign	rs550537101	GRCh38	Chromosome 15, 65077029: 65077029
21	KBTBD13	NM_001101362.2(KBTBD13): c.214C> T (p.Leu72=)	single nucleotide variant	Likely benign	rs550537101	GRCh37	Chromosome 15, 65369367: 65369367
22	KBTBD13	NM_001101362.2(KBTBD13): c.246G> C (p.Val82=)	single nucleotide variant	Benign/Likely benign	rs115182478	GRCh37	Chromosome 15, 65369399: 65369399
23	KBTBD13	NM_001101362.2(KBTBD13): c.246G> C (p.Val82=)	single nucleotide variant	Benign/Likely benign	rs115182478	GRCh38	Chromosome 15, 65077061: 65077061
24	KBTBD13	NM_001101362.2(KBTBD13): c.1077A> G (p.Gly359=)	single nucleotide variant	Benign/Likely benign	rs199526404	GRCh38	Chromosome 15, 65077892: 65077892
25	KBTBD13	NM_001101362.2(KBTBD13): c.1077A> G (p.Gly359=)	single nucleotide variant	Benign/Likely benign	rs199526404	GRCh37	Chromosome 15, 65370230: 65370230
26	KBTBD13	NM_001101362.2(KBTBD13): c.1363A> G (p.Thr455Ala)	single nucleotide variant	Benign/Likely benign	rs116406369	GRCh37	Chromosome 15, 65370516: 65370516
27	KBTBD13	NM_001101362.2(KBTBD13): c.1363A> G (p.Thr455Ala)	single nucleotide variant	Benign/Likely benign	rs116406369	GRCh38	Chromosome 15, 65078178: 65078178
28	KBTBD13	NM_001101362.2(KBTBD13): c.331G> A (p.Asp111Asn)	single nucleotide variant	Uncertain significance	rs567309902	GRCh38	Chromosome 15, 65077146: 65077146
29	KBTBD13	NM_001101362.2(KBTBD13): c.331G> A (p.Asp111Asn)	single nucleotide variant	Uncertain significance	rs567309902	GRCh37	Chromosome 15, 65369484: 65369484
30	KBTBD13	NM_001101362.2(KBTBD13): c.333C> G (p.Asp111Glu)	single nucleotide variant	Likely benign	rs188146580	GRCh38	Chromosome 15, 65077148: 65077148
31	KBTBD13	NM_001101362.2(KBTBD13): c.333C> G (p.Asp111Glu)	single nucleotide variant	Likely benign	rs188146580	GRCh37	Chromosome 15, 65369486: 65369486
32	KBTBD13	NM_001101362.2(KBTBD13): c.394G> A (p.Gly132Ser)	single nucleotide variant	Uncertain significance	rs373039171	GRCh38	Chromosome 15, 65077209: 65077209
33	KBTBD13	NM_001101362.2(KBTBD13): c.394G> A (p.Gly132Ser)	single nucleotide variant	Uncertain significance	rs373039171	GRCh37	Chromosome 15, 65369547: 65369547
34	KBTBD13	NM_001101362.2(KBTBD13): c.742C> T (p.Arg248Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200549195	GRCh38	Chromosome 15, 65077557: 65077557
35	KBTBD13	NM_001101362.2(KBTBD13): c.742C> T (p.Arg248Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200549195	GRCh37	Chromosome 15, 65369895: 65369895
36	KBTBD13	NM_001101362.2(KBTBD13): c.769G> C (p.Asp257His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs568675071	GRCh38	Chromosome 15, 65077584: 65077584
37	KBTBD13	NM_001101362.2(KBTBD13): c.769G> C (p.Asp257His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs568675071	GRCh37	Chromosome 15, 65369922: 65369922
38	KBTBD13	NM_001101362.2(KBTBD13): c.471C> T (p.Tyr157=)	single nucleotide variant	Likely benign	rs550724858	GRCh38	Chromosome 15, 65077286: 65077286
39	KBTBD13	NM_001101362.2(KBTBD13): c.471C> T (p.Tyr157=)	single nucleotide variant	Likely benign	rs550724858	GRCh37	Chromosome 15, 65369624: 65369624
40	KBTBD13	NM_001101362.2(KBTBD13): c.117C> T (p.Gly39=)	single nucleotide variant	Likely benign	rs367684457	GRCh38	Chromosome 15, 65076932: 65076932
41	KBTBD13	NM_001101362.2(KBTBD13): c.117C> T (p.Gly39=)	single nucleotide variant	Likely benign	rs367684457	GRCh37	Chromosome 15, 65369270: 65369270
42	KBTBD13	NM_001101362.2(KBTBD13): c.361G> A (p.Val121Met)	single nucleotide variant	Likely benign	rs201466173	GRCh38	Chromosome 15, 65077176: 65077176
43	KBTBD13	NM_001101362.2(KBTBD13): c.361G> A (p.Val121Met)	single nucleotide variant	Likely benign	rs201466173	GRCh37	Chromosome 15, 65369514: 65369514
44	KBTBD13	NM_001101362.2(KBTBD13): c.981C> G (p.Thr327=)	single nucleotide variant	Benign/Likely benign	rs184130258	GRCh38	Chromosome 15, 65077796: 65077796
45	KBTBD13	NM_001101362.2(KBTBD13): c.981C> G (p.Thr327=)	single nucleotide variant	Benign/Likely benign	rs184130258	GRCh37	Chromosome 15, 65370134: 65370134
46	KBTBD13	NM_001101362.2(KBTBD13): c.115G> C (p.Gly39Arg)	single nucleotide variant	Benign	rs201420126	GRCh38	Chromosome 15, 65076930: 65076930
47	KBTBD13	NM_001101362.2(KBTBD13): c.115G> C (p.Gly39Arg)	single nucleotide variant	Benign	rs201420126	GRCh37	Chromosome 15, 65369268: 65369268
48	KBTBD13	NM_001101362.2(KBTBD13): c.990G> C (p.Trp330Cys)	single nucleotide variant	Uncertain significance	rs1064797021	GRCh38	Chromosome 15, 65077805: 65077805
49	KBTBD13	NM_001101362.2(KBTBD13): c.990G> C (p.Trp330Cys)	single nucleotide variant	Uncertain significance	rs1064797021	GRCh37	Chromosome 15, 65370143: 65370143
50	KBTBD13	NM_001101362.2(KBTBD13): c.244G> A (p.Val82Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs1303411209	GRCh37	Chromosome 15, 65369397: 65369397

Sources

Expression for Nemaline Myopathy 6

Search GEO for disease gene expression data for Nemaline Myopathy 6.

Sources

Pathways for Nemaline Myopathy 6

Sources

GO Terms for Nemaline Myopathy 6

Sources

Sources for Nemaline Myopathy 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Nemaline Myopathy 6 (NEM6)

Aliases & Classifications for Nemaline Myopathy 6

MalaCards integrated aliases for Nemaline Myopathy 6:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Nemaline Myopathy 6

Related Diseases for Nemaline Myopathy 6

Diseases in the Nemaline Myopathy family:

Symptoms & Phenotypes for Nemaline Myopathy 6

Human phenotypes related to Nemaline Myopathy 6:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Nemaline Myopathy 6:

Drugs & Therapeutics for Nemaline Myopathy 6

Interventional clinical trials:

Genetic Tests for Nemaline Myopathy 6

Genetic tests related to Nemaline Myopathy 6:

Anatomical Context for Nemaline Myopathy 6

MalaCards organs/tissues related to Nemaline Myopathy 6:

Publications for Nemaline Myopathy 6

Genes for Nemaline Myopathy 6

Genes related to Nemaline Myopathy 6 (1 elite genes):

Variations for Nemaline Myopathy 6

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 6:

ClinVar genetic disease variations for Nemaline Myopathy 6:

Expression for Nemaline Myopathy 6

Pathways for Nemaline Myopathy 6

GO Terms for Nemaline Myopathy 6

Sources for Nemaline Myopathy 6