NEM6
MCID: NML007
MIFTS: 28

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 56 12 73 29 13 6 71
Nemaline Myopathy 6, Autosomal Dominant 56 12 29
Nem6 56 73
Myopathy, Nemaline, Type 6 39

Characteristics:

OMIM:

56
Miscellaneous:
slow progression
onset in early childhood

Inheritance:
autosomal dominant


HPO:

31
nemaline myopathy 6:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0110935
OMIM 56 609273
OMIM Phenotypic Series 56 PS161800
MeSH 43 D017696
MedGen 41 C1836472
UMLS 71 C1836472

Summaries for Nemaline Myopathy 6

OMIM : 56 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 myopathy and gait disturbance

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 : 73 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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 myopathy 31 HP:0003198
2 gait disturbance 31 HP:0001288
3 muscle stiffness 31 HP:0003552
4 nemaline bodies 31 HP:0003798
5 limb muscle weakness 31 HP:0003690
6 difficulty climbing stairs 31 HP:0003551
7 exercise intolerance 31 HP:0003546
8 neck flexor weakness 31 HP:0003722
9 difficulty running 31 HP:0009046

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
muscle stiffness
myopathic changes seen on emg
nemaline bodies (rods) on gomori trichrome staining seen on muscle biopsy
distal muscle weakness and atrophy
trunk muscle weakness
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

Search Clinical Trials , 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
2 Nemaline Myopathy 6, Autosomal Dominant 29

Anatomical Context for Nemaline Myopathy 6

MalaCards organs/tissues related to Nemaline Myopathy 6:

40
Skeletal Muscle

Publications for Nemaline Myopathy 6

Articles related to Nemaline Myopathy 6:

# Title Authors PMID Year
1
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. 56 6 61
21109227 2010
2
Nemaline myopathy type 6: clinical and myopathological features. 56 6 61
21104864 2010
3
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. 56 6
12805120 2003
4
Clinical utility gene card for: nemaline myopathy. 6
22510848 2012
5
Nemaline Myopathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301465 2002
6
A new phenotype of autosomal dominant nemaline myopathy. 56
11731279 2002
7
KBTBD13 is an actin-binding protein that modulates muscle kinetics. 61
31671076 2020

Variations for Nemaline Myopathy 6

ClinVar genetic disease variations for Nemaline Myopathy 6:

6 (show top 50) (show all 180) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KBTBD13 NM_001101362.2(KBTBD13):c.1170G>C (p.Lys390Asn)SNV Pathogenic 31061 15:65370323-65370323 15:65077985-65077985
2 KBTBD13 NM_001101362.2(KBTBD13):c.1222C>T (p.Arg408Cys)SNV Pathogenic 31062 rs387907090 15:65370375-65370375 15:65078037-65078037
3 KBTBD13 NM_001101362.2(KBTBD13):c.742C>A (p.Arg248Ser)SNV Pathogenic 31063 rs200549195 15:65369895-65369895 15:65077557-65077557
4 covers 42 genes, none of which curated to show dosage sensitivity deletion Likely pathogenic 560063 15:63414894-66439797
5 KBTBD13 NM_001101362.2(KBTBD13):c.729C>G (p.Ser243Arg)SNV Conflicting interpretations of pathogenicity 581243 rs767990371 15:65369882-65369882 15:65077544-65077544
6 KBTBD13 NM_001101362.2(KBTBD13):c.244G>A (p.Val82Met)SNV Conflicting interpretations of pathogenicity 435545 rs1303411209 15:65369397-65369397 15:65077059-65077059
7 KBTBD13 NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro)SNV Conflicting interpretations of pathogenicity 499718 rs767384093 15:65369443-65369443 15:65077105-65077105
8 KBTBD13 NM_001101362.2(KBTBD13):c.162C>T (p.Ser54=)SNV Conflicting interpretations of pathogenicity 763184 15:65369315-65369315 15:65076977-65076977
9 KBTBD13 NM_001101362.2(KBTBD13):c.1191G>C (p.Val397=)SNV Conflicting interpretations of pathogenicity 706268 15:65370344-65370344 15:65078006-65078006
10 KBTBD13 NM_001101362.2(KBTBD13):c.394G>A (p.Gly132Ser)SNV Conflicting interpretations of pathogenicity 316741 rs373039171 15:65369547-65369547 15:65077209-65077209
11 KBTBD13 NM_001101362.2(KBTBD13):c.742C>T (p.Arg248Cys)SNV Conflicting interpretations of pathogenicity 316744 rs200549195 15:65369895-65369895 15:65077557-65077557
12 KBTBD13 NM_001101362.2(KBTBD13):c.769G>C (p.Asp257His)SNV Conflicting interpretations of pathogenicity 316746 rs568675071 15:65369922-65369922 15:65077584-65077584
13 KBTBD13 NM_001101362.2(KBTBD13):c.228C>G (p.Asp76Glu)SNV Conflicting interpretations of pathogenicity 316735 rs777431652 15:65369381-65369381 15:65077043-65077043
14 KBTBD13 NM_001101362.2(KBTBD13):c.238C>T (p.Gln80Ter)SNV Uncertain significance 316736 rs886051333 15:65369391-65369391 15:65077053-65077053
15 KBTBD13 NM_001101362.2(KBTBD13):c.*33C>TSNV Uncertain significance 316752 rs886051336 15:65370563-65370563 15:65078225-65078225
16 KBTBD13 NM_001101362.2(KBTBD13):c.*1306T>GSNV Uncertain significance 316771 rs541447859 15:65371836-65371836 15:65079498-65079498
17 KBTBD13 NM_001101362.2(KBTBD13):c.*1421C>TSNV Uncertain significance 316772 rs374389911 15:65371951-65371951 15:65079613-65079613
18 KBTBD13 NM_001101362.2(KBTBD13):c.*1582C>TSNV Uncertain significance 316776 rs111882334 15:65372112-65372112 15:65079774-65079774
19 KBTBD13 NM_001101362.2(KBTBD13):c.288T>G (p.Phe96Leu)SNV Uncertain significance 533002 rs759474251 15:65369441-65369441 15:65077103-65077103
20 KBTBD13 NM_001101362.2(KBTBD13):c.924C>T (p.Phe308=)SNV Uncertain significance 316748 rs886051335 15:65370077-65370077 15:65077739-65077739
21 KBTBD13 NM_001101362.2(KBTBD13):c.*1276G>TSNV Uncertain significance 316770 rs886051344 15:65371806-65371806 15:65079468-65079468
22 KBTBD13 NM_001101362.2(KBTBD13):c.*1112C>TSNV Uncertain significance 316767 rs886051342 15:65371642-65371642 15:65079304-65079304
23 KBTBD13 NM_001101362.2(KBTBD13):c.252C>T (p.Cys84=)SNV Uncertain significance 316737 rs886051334 15:65369405-65369405 15:65077067-65077067
24 KBTBD13 NM_001101362.2(KBTBD13):c.*684C>TSNV Uncertain significance 316761 rs549339931 15:65371214-65371214 15:65078876-65078876
25 KBTBD13 NM_001101362.2(KBTBD13):c.*1514T>CSNV Uncertain significance 316774 rs189406063 15:65372044-65372044 15:65079706-65079706
26 KBTBD13 NC_000015.10:g.65078572A>GSNV Uncertain significance 884442 15:65370910-65370910 15:65078572-65078572
27 KBTBD13 NC_000015.10:g.65078595C>ASNV Uncertain significance 884443 15:65370933-65370933 15:65078595-65078595
28 KBTBD13 NC_000015.10:g.65079038G>CSNV Uncertain significance 884445 15:65371376-65371376 15:65079038-65079038
29 KBTBD13 NC_000015.10:g.65079515A>TSNV Uncertain significance 885369 15:65371853-65371853 15:65079515-65079515
30 KBTBD13 NM_001101362.2(KBTBD13):c.331G>A (p.Asp111Asn)SNV Uncertain significance 316738 rs567309902 15:65369484-65369484 15:65077146-65077146
31 KBTBD13 NM_001101362.2(KBTBD13):c.1048C>G (p.Arg350Gly)SNV Uncertain significance 316750 rs779744493 15:65370201-65370201 15:65077863-65077863
32 KBTBD13 NM_001101362.2(KBTBD13):c.*71C>TSNV Uncertain significance 316754 rs886051337 15:65370601-65370601 15:65078263-65078263
33 KBTBD13 NM_001101362.2(KBTBD13):c.266A>G (p.Gln89Arg)SNV Uncertain significance 579336 rs1460367454 15:65369419-65369419 15:65077081-65077081
34 KBTBD13 NM_001101362.2(KBTBD13):c.359del (p.Asp120fs)deletion Uncertain significance 572353 rs903604256 15:65369512-65369512 15:65077174-65077174
35 KBTBD13 NM_001101362.2(KBTBD13):c.718G>A (p.Glu240Lys)SNV Uncertain significance 583389 rs1293899823 15:65369871-65369871 15:65077533-65077533
36 KBTBD13 NC_000015.10:g.65076828C>GSNV Uncertain significance 839630 15:65369166-65369166 15:65076828-65076828
37 KBTBD13 NC_000015.10:g.65076873G>CSNV Uncertain significance 852468 15:65369211-65369211 15:65076873-65076873
38 KBTBD13 NC_000015.10:g.65076897C>TSNV Uncertain significance 857480 15:65369235-65369235 15:65076897-65076897
39 KBTBD13 NC_000015.10:g.65077014G>CSNV Uncertain significance 850922 15:65369352-65369352 15:65077014-65077014
40 KBTBD13 NC_000015.10:g.65077135C>GSNV Uncertain significance 836361 15:65369473-65369473 15:65077135-65077135
41 KBTBD13 NC_000015.10:g.65077204G>CSNV Uncertain significance 841705 15:65369542-65369542 15:65077204-65077204
42 KBTBD13 NC_000015.10:g.65077212G>ASNV Uncertain significance 845225 15:65369550-65369550 15:65077212-65077212
43 KBTBD13 NC_000015.10:g.65077367G>CSNV Uncertain significance 859552 15:65369705-65369705 15:65077367-65077367
44 KBTBD13 NC_000015.10:g.65077386G>CSNV Uncertain significance 837173 15:65369724-65369724 15:65077386-65077386
45 KBTBD13 NC_000015.10:g.65077447T>ASNV Uncertain significance 847762 15:65369785-65369785 15:65077447-65077447
46 KBTBD13 NC_000015.10:g.65077853G>TSNV Uncertain significance 839725 15:65370191-65370191 15:65077853-65077853
47 KBTBD13 NC_000015.10:g.65078035A>GSNV Uncertain significance 857248 15:65370373-65370373 15:65078035-65078035
48 KBTBD13 NC_000015.10:g.65077098C>ASNV Uncertain significance 887335 15:65369436-65369436 15:65077098-65077098
49 KBTBD13 NC_000015.10:g.65077124G>CSNV Uncertain significance 887336 15:65369462-65369462 15:65077124-65077124
50 KBTBD13 NC_000015.10:g.65077211C>GSNV Uncertain significance 887528 15:65369549-65369549 15:65077211-65077211

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

73
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....