NEM6
MCID: NML007
MIFTS: 23

Nemaline Myopathy 6 (NEM6)

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

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:



External Ids:

Disease Ontology 12 DOID:0110935
OMIM 58 609273
MeSH 45 D017696
MedGen 43 C1836472
UMLS 74 C1836472

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.

Related Diseases for Nemaline Myopathy 6

Symptoms & Phenotypes for Nemaline Myopathy 6

Human phenotypes related to Nemaline Myopathy 6:

33 (show all 9)
# Description HPO Frequency 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

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

Genetic Tests for Nemaline Myopathy 6

Genetic tests related to Nemaline Myopathy 6:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 6 30 KBTBD13

Anatomical Context for Nemaline Myopathy 6

MalaCards organs/tissues related to Nemaline Myopathy 6:

42
Skeletal Muscle

Publications for Nemaline Myopathy 6

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

Expression for Nemaline Myopathy 6

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

Pathways for Nemaline Myopathy 6

GO Terms for Nemaline Myopathy 6

Sources for Nemaline Myopathy 6

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