MCID: NML007
MIFTS: 23

Nemaline Myopathy 6

Categories: 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 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:



External Ids:

OMIM 57 609273
Disease Ontology 12 DOID:0110935
MedGen 42 C1836472
MeSH 44 D017696
UMLS 73 C1836472

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.

Related Diseases for Nemaline Myopathy 6

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 Frequency 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

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 29 KBTBD13

Anatomical Context for Nemaline Myopathy 6

MalaCards organs/tissues related to Nemaline Myopathy 6:

41
Skeletal Muscle

Publications for Nemaline Myopathy 6

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

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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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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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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