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

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

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Aliases & Classifications for Nemaline Myopathy 6

MalaCards integrated aliases for Nemaline Myopathy 6:

Name: Nemaline Myopathy 6 ⁵⁷ ¹² ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Nemaline Myopathy 6, Autosomal Dominant ⁵⁷ ¹²

Nem6 ⁵⁷ ⁷⁵

Myopathy, Nemaline, Type 6 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
slow progression
onset in early childhood

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 609273

Disease Ontology ¹² DOID:0110935

MedGen ⁴² C1836472

MeSH ⁴⁴ D017696

SNOMED-CT via HPO ⁶⁹ 263681008 22325002 129565002 more

UMLS ⁷³ C1836472

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Summaries for Nemaline Myopathy 6

OMIM : ⁵⁷ 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 : ⁷⁵ 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.

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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

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Symptoms & Phenotypes for Nemaline Myopathy 6

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Nemaline Myopathy 6:

³² (show all 9)

#	Description	HPO Source Accession
1	gait disturbance ³²	HP:0001288
2	myopathy ³²	HP:0003198
3	nemaline bodies ³²	HP:0003798
4	exercise intolerance ³²	HP:0003546
5	limb muscle weakness ³²	HP:0003690
6	difficulty climbing stairs ³²	HP:0003551
7	muscle stiffness ³²	HP:0003552
8	neck flexor weakness ³²	HP:0003722
9	difficulty running ³²	HP:0009046

UMLS symptoms related to Nemaline Myopathy 6:

muscular stiffness

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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

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Genetic Tests for Nemaline Myopathy 6

Genetic tests related to Nemaline Myopathy 6:

#	Genetic test	Affiliating Genes
1	Nemaline Myopathy 6 ²⁹	KBTBD13

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Anatomical Context for Nemaline Myopathy 6

MalaCards organs/tissues related to Nemaline Myopathy 6:

⁴¹

Skeletal Muscle

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Publications for Nemaline Myopathy 6

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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	1329.16	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	21109227 12805120 20301465 (more) 22510848 21104864
2	RASL12	RAS Like Family 12	Protein Coding	9.26	GeneCards inferred via : Variants (show sections)

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Variations for Nemaline Myopathy 6

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

⁷⁵

#	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 127)

#	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.89G> A (p.Gly30Asp)	single nucleotide variant	Benign/Likely benign	rs138484272	GRCh38	Chromosome 15, 65076904: 65076904
7	KBTBD13	NM_001101362.2(KBTBD13): c.89G> A (p.Gly30Asp)	single nucleotide variant	Benign/Likely benign	rs138484272	GRCh37	Chromosome 15, 65369242: 65369242
8	KBTBD13	NM_001101362.2(KBTBD13): c.163G> A (p.Ala55Thr)	single nucleotide variant	Likely benign	rs551460635	GRCh37	Chromosome 15, 65369316: 65369316
9	KBTBD13	NM_001101362.2(KBTBD13): c.163G> A (p.Ala55Thr)	single nucleotide variant	Likely benign	rs551460635	GRCh38	Chromosome 15, 65076978: 65076978
10	KBTBD13	NM_001101362.2(KBTBD13): c.188A> T (p.Gln63Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202004658	GRCh38	Chromosome 15, 65077003: 65077003
11	KBTBD13	NM_001101362.2(KBTBD13): c.188A> T (p.Gln63Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202004658	GRCh37	Chromosome 15, 65369341: 65369341
12	KBTBD13	NM_001101362.2(KBTBD13): c.214C> T (p.Leu72=)	single nucleotide variant	Likely benign	rs550537101	GRCh38	Chromosome 15, 65077029: 65077029
13	KBTBD13	NM_001101362.2(KBTBD13): c.214C> T (p.Leu72=)	single nucleotide variant	Likely benign	rs550537101	GRCh37	Chromosome 15, 65369367: 65369367
14	KBTBD13	NM_001101362.2(KBTBD13): c.246G> C (p.Val82=)	single nucleotide variant	Benign/Likely benign	rs115182478	GRCh37	Chromosome 15, 65369399: 65369399
15	KBTBD13	NM_001101362.2(KBTBD13): c.246G> C (p.Val82=)	single nucleotide variant	Benign/Likely benign	rs115182478	GRCh38	Chromosome 15, 65077061: 65077061
16	KBTBD13	NM_001101362.2(KBTBD13): c.1077A> G (p.Gly359=)	single nucleotide variant	Benign/Likely benign	rs199526404	GRCh38	Chromosome 15, 65077892: 65077892
17	KBTBD13	NM_001101362.2(KBTBD13): c.1077A> G (p.Gly359=)	single nucleotide variant	Benign/Likely benign	rs199526404	GRCh37	Chromosome 15, 65370230: 65370230
18	KBTBD13	NM_001101362.2(KBTBD13): c.1363A> G (p.Thr455Ala)	single nucleotide variant	Benign/Likely benign	rs116406369	GRCh37	Chromosome 15, 65370516: 65370516
19	KBTBD13	NM_001101362.2(KBTBD13): c.1363A> G (p.Thr455Ala)	single nucleotide variant	Benign/Likely benign	rs116406369	GRCh38	Chromosome 15, 65078178: 65078178
20	KBTBD13	NM_001101362.2(KBTBD13): c.333C> G (p.Asp111Glu)	single nucleotide variant	Likely benign	rs188146580	GRCh37	Chromosome 15, 65369486: 65369486
21	KBTBD13	NM_001101362.2(KBTBD13): c.333C> G (p.Asp111Glu)	single nucleotide variant	Likely benign	rs188146580	GRCh38	Chromosome 15, 65077148: 65077148
22	KBTBD13	NM_001101362.2(KBTBD13): c.394G> A (p.Gly132Ser)	single nucleotide variant	Uncertain significance	rs373039171	GRCh38	Chromosome 15, 65077209: 65077209
23	KBTBD13	NM_001101362.2(KBTBD13): c.394G> A (p.Gly132Ser)	single nucleotide variant	Uncertain significance	rs373039171	GRCh37	Chromosome 15, 65369547: 65369547
24	KBTBD13	NM_001101362.2(KBTBD13): c.742C> T (p.Arg248Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200549195	GRCh38	Chromosome 15, 65077557: 65077557
25	KBTBD13	NM_001101362.2(KBTBD13): c.742C> T (p.Arg248Cys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200549195	GRCh37	Chromosome 15, 65369895: 65369895
26	KBTBD13	NM_001101362.2(KBTBD13): c.769G> C (p.Asp257His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs568675071	GRCh38	Chromosome 15, 65077584: 65077584
27	KBTBD13	NM_001101362.2(KBTBD13): c.769G> C (p.Asp257His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs568675071	GRCh37	Chromosome 15, 65369922: 65369922
28	KBTBD13	NM_001101362.2(KBTBD13): c.471C> T (p.Tyr157=)	single nucleotide variant	Likely benign	rs550724858	GRCh38	Chromosome 15, 65077286: 65077286
29	KBTBD13	NM_001101362.2(KBTBD13): c.471C> T (p.Tyr157=)	single nucleotide variant	Likely benign	rs550724858	GRCh37	Chromosome 15, 65369624: 65369624
30	KBTBD13	NM_001101362.2(KBTBD13): c.117C> T (p.Gly39=)	single nucleotide variant	Likely benign	rs367684457	GRCh38	Chromosome 15, 65076932: 65076932
31	KBTBD13	NM_001101362.2(KBTBD13): c.117C> T (p.Gly39=)	single nucleotide variant	Likely benign	rs367684457	GRCh37	Chromosome 15, 65369270: 65369270
32	KBTBD13	NM_001101362.2(KBTBD13): c.361G> A (p.Val121Met)	single nucleotide variant	Likely benign	rs201466173	GRCh38	Chromosome 15, 65077176: 65077176
33	KBTBD13	NM_001101362.2(KBTBD13): c.361G> A (p.Val121Met)	single nucleotide variant	Likely benign	rs201466173	GRCh37	Chromosome 15, 65369514: 65369514
34	KBTBD13	NM_001101362.2(KBTBD13): c.981C> G (p.Thr327=)	single nucleotide variant	Benign/Likely benign	rs184130258	GRCh38	Chromosome 15, 65077796: 65077796
35	KBTBD13	NM_001101362.2(KBTBD13): c.981C> G (p.Thr327=)	single nucleotide variant	Benign/Likely benign	rs184130258	GRCh37	Chromosome 15, 65370134: 65370134
36	KBTBD13	NM_001101362.2(KBTBD13): c.115G> C (p.Gly39Arg)	single nucleotide variant	Benign	rs201420126	GRCh37	Chromosome 15, 65369268: 65369268
37	KBTBD13	NM_001101362.2(KBTBD13): c.115G> C (p.Gly39Arg)	single nucleotide variant	Benign	rs201420126	GRCh38	Chromosome 15, 65076930: 65076930
38	KBTBD13	NM_001101362.2(KBTBD13): c.168A> C (p.Gly56=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 15, 65076983: 65076983
39	KBTBD13	NM_001101362.2(KBTBD13): c.168A> C (p.Gly56=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 15, 65369321: 65369321
40	KBTBD13	NM_001101362.2(KBTBD13): c.361G> C (p.Val121Leu)	single nucleotide variant	Uncertain significance	rs201466173	GRCh37	Chromosome 15, 65369514: 65369514
41	KBTBD13	NM_001101362.2(KBTBD13): c.361G> C (p.Val121Leu)	single nucleotide variant	Uncertain significance	rs201466173	GRCh38	Chromosome 15, 65077176: 65077176
42	KBTBD13	NM_001101362.2(KBTBD13): c.576G> C (p.Ala192=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 15, 65369729: 65369729
43	KBTBD13	NM_001101362.2(KBTBD13): c.576G> C (p.Ala192=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 15, 65077391: 65077391
44	KBTBD13	NM_001101362.2(KBTBD13): c.1297C> T (p.Pro433Ser)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 15, 65078112: 65078112
45	KBTBD13	NM_001101362.2(KBTBD13): c.1297C> T (p.Pro433Ser)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 15, 65370450: 65370450
46	KBTBD13	NM_001101362.2(KBTBD13): c.2T> G (p.Met1Arg)	single nucleotide variant	Uncertain significance	rs374196960	GRCh38	Chromosome 15, 65076817: 65076817
47	KBTBD13	NM_001101362.2(KBTBD13): c.2T> G (p.Met1Arg)	single nucleotide variant	Uncertain significance	rs374196960	GRCh37	Chromosome 15, 65369155: 65369155
48	KBTBD13	NM_001101362.2(KBTBD13): c.167G> A (p.Gly56Glu)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 15, 65076982: 65076982
49	KBTBD13	NM_001101362.2(KBTBD13): c.167G> A (p.Gly56Glu)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 15, 65369320: 65369320
50	KBTBD13	NM_001101362.2(KBTBD13): c.205C> T (p.Arg69Trp)	single nucleotide variant	Uncertain significance	rs530722554	GRCh38	Chromosome 15, 65077020: 65077020

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Expression for Nemaline Myopathy 6

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

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Pathways for Nemaline Myopathy 6

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GO Terms for Nemaline Myopathy 6

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Sources for Nemaline Myopathy 6

¹ BioSystems

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⁷⁶ Wikipedia