NEM6
MCID: NML007
MIFTS: 33

Nemaline Myopathy 6 (NEM6)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Nemaline Myopathy 6

MalaCards integrated aliases for Nemaline Myopathy 6:

Name: Nemaline Myopathy 6 57 11 73 28 12 5 43 14 71
Nemaline Myopathy 6, Autosomal Dominant 57 11
Nem6 57 73
Myopathy, Nemaline, Type 6 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in early childhood
slow progression


HPO:

30
nemaline myopathy 6:
Onset and clinical course slowly progressive


Classifications:



External Ids:

Disease Ontology 11 DOID:0110935
OMIM® 57 609273
OMIM Phenotypic Series 57 PS161800
MedGen 40 C1836472
UMLS 71 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) (Updated 08-Dec-2022)

MalaCards based summary: Nemaline Myopathy 6, also known as nemaline myopathy 6, autosomal dominant, is related to nemaline myopathy and myopathy, 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: 11 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 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

Graphical network of the top 20 diseases related to Nemaline Myopathy 6:



Diseases related to Nemaline Myopathy 6

Symptoms & Phenotypes for Nemaline Myopathy 6

Human phenotypes related to Nemaline Myopathy 6:

30 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 30 HP:0001288
2 myopathy 30 HP:0003198
3 muscle stiffness 30 HP:0003552
4 nemaline bodies 30 HP:0003798
5 limb muscle weakness 30 HP:0003690
6 difficulty climbing stairs 30 HP:0003551
7 exercise intolerance 30 HP:0003546
8 neck flexor weakness 30 HP:0003722
9 difficulty running 30 HP:0009046

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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

Cochrane evidence based reviews: nemaline myopathy 6

Genetic Tests for Nemaline Myopathy 6

Genetic tests related to Nemaline Myopathy 6:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 6 28 KBTBD13

Anatomical Context for Nemaline Myopathy 6

Organs/tissues related to Nemaline Myopathy 6:

MalaCards : Skeletal Muscle
ODiseA: 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. 62 57 5
21109227 2010
2
Nemaline myopathy type 6: clinical and myopathological features. 62 57 5
21104864 2010
3
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA. 5
24525055 2014
4
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. 57
12805120 2003
5
A new phenotype of autosomal dominant nemaline myopathy. 57
11731279 2002
6
KBTBD13 is a novel cardiomyopathy gene. 62
36335629 2022
7
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material. 62
33693846 2021
8
250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands. 62
32919842 2020
9
KBTBD13 is an actin-binding protein that modulates muscle kinetics. 62
31671076 2020

Variations for Nemaline Myopathy 6

ClinVar genetic disease variations for Nemaline Myopathy 6:

5 (show top 50) (show all 389)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KBTBD13 NM_001101362.3(KBTBD13):c.1170G>C (p.Lys390Asn) SNV Pathogenic
31061 rs1364598710 GRCh37: 15:65370323-65370323
GRCh38: 15:65077985-65077985
2 KBTBD13 NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser) SNV Pathogenic
31063 rs200549195 GRCh37: 15:65369895-65369895
GRCh38: 15:65077557-65077557
3 KBTBD13 NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met) SNV Pathogenic
435545 rs1303411209 GRCh37: 15:65369397-65369397
GRCh38: 15:65077059-65077059
4 KBTBD13 NM_001101362.3(KBTBD13):c.1222C>T (p.Arg408Cys) SNV Pathogenic
31062 rs387907090 GRCh37: 15:65370375-65370375
GRCh38: 15:65078037-65078037
5 overlap with 42 genes DEL Likely Pathogenic
560063 GRCh37: 15:63414894-66439797
GRCh38:
6 KBTBD13 NM_001101362.3(KBTBD13):c.1170G>T (p.Lys390Asn) SNV Likely Pathogenic
1709118 GRCh37: 15:65370323-65370323
GRCh38: 15:65077985-65077985
7 KBTBD13 NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) SNV Conflicting Interpretations Of Pathogenicity
499718 rs767384093 GRCh37: 15:65369443-65369443
GRCh38: 15:65077105-65077105
8 KBTBD13 NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser) SNV Conflicting Interpretations Of Pathogenicity
464351 rs999785767 GRCh37: 15:65369404-65369404
GRCh38: 15:65077066-65077066
9 KBTBD13 NM_001101362.3(KBTBD13):c.394G>A (p.Gly132Ser) SNV Conflicting Interpretations Of Pathogenicity
316741 rs373039171 GRCh37: 15:65369547-65369547
GRCh38: 15:65077209-65077209
10 KBTBD13 NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn) SNV Conflicting Interpretations Of Pathogenicity
316738 rs567309902 GRCh37: 15:65369484-65369484
GRCh38: 15:65077146-65077146
11 KBTBD13 NM_001101362.3(KBTBD13):c.224A>C (p.Glu75Ala) SNV Conflicting Interpretations Of Pathogenicity
654357 rs755775428 GRCh37: 15:65369377-65369377
GRCh38: 15:65077039-65077039
12 KBTBD13 NM_001101362.3(KBTBD13):c.1191G>C (p.Val397=) SNV Conflicting Interpretations Of Pathogenicity
706268 rs376673920 GRCh37: 15:65370344-65370344
GRCh38: 15:65078006-65078006
13 KBTBD13 NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=) SNV Conflicting Interpretations Of Pathogenicity
763184 rs1162054356 GRCh37: 15:65369315-65369315
GRCh38: 15:65076977-65076977
14 KBTBD13 NM_001101362.3(KBTBD13):c.228C>G (p.Asp76Glu) SNV Conflicting Interpretations Of Pathogenicity
316735 rs777431652 GRCh37: 15:65369381-65369381
GRCh38: 15:65077043-65077043
15 KBTBD13 NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=) SNV Conflicting Interpretations Of Pathogenicity
887336 rs760134475 GRCh37: 15:65369462-65369462
GRCh38: 15:65077124-65077124
16 KBTBD13 NM_001101362.3(KBTBD13):c.552G>C (p.Glu184Asp) SNV Uncertain Significance
859552 rs1595912705 GRCh37: 15:65369705-65369705
GRCh38: 15:65077367-65077367
17 KBTBD13 NM_001101362.3(KBTBD13):c.389G>C (p.Cys130Ser) SNV Uncertain Significance
841705 rs1316788781 GRCh37: 15:65369542-65369542
GRCh38: 15:65077204-65077204
18 KBTBD13 NM_001101362.3(KBTBD13):c.397G>A (p.Glu133Lys) SNV Uncertain Significance
845225 rs192935606 GRCh37: 15:65369550-65369550
GRCh38: 15:65077212-65077212
19 KBTBD13 NM_001101362.3(KBTBD13):c.632T>A (p.Leu211His) SNV Uncertain Significance
847762 rs924967048 GRCh37: 15:65369785-65369785
GRCh38: 15:65077447-65077447
20 KBTBD13 NM_001101362.3(KBTBD13):c.199G>C (p.Gly67Arg) SNV Uncertain Significance
850922 rs770087291 GRCh37: 15:65369352-65369352
GRCh38: 15:65077014-65077014
21 KBTBD13 NM_001101362.3(KBTBD13):c.649G>A (p.Val217Met) SNV Uncertain Significance
887530 rs555158930 GRCh37: 15:65369802-65369802
GRCh38: 15:65077464-65077464
22 KBTBD13 NM_001101362.3(KBTBD13):c.939_940delinsAT (p.Pro314Ser) INDEL Uncertain Significance
933519 rs2086999390 GRCh37: 15:65370092-65370093
GRCh38: 15:65077754-65077755
23 KBTBD13 NM_001101362.3(KBTBD13):c.101G>A (p.Gly34Asp) SNV Uncertain Significance
942450 rs544519051 GRCh37: 15:65369254-65369254
GRCh38: 15:65076916-65076916
24 KBTBD13 NM_001101362.3(KBTBD13):c.793G>A (p.Gly265Ser) SNV Uncertain Significance
947429 rs764697405 GRCh37: 15:65369946-65369946
GRCh38: 15:65077608-65077608
25 KBTBD13 NM_001101362.3(KBTBD13):c.1133A>G (p.Gln378Arg) SNV Uncertain Significance
1009264 rs769042275 GRCh37: 15:65370286-65370286
GRCh38: 15:65077948-65077948
26 KBTBD13 NM_001101362.3(KBTBD13):c.44G>A (p.Gly15Asp) SNV Uncertain Significance
1010340 rs746640081 GRCh37: 15:65369197-65369197
GRCh38: 15:65076859-65076859
27 KBTBD13 NM_001101362.3(KBTBD13):c.358G>A (p.Asp120Asn) SNV Uncertain Significance
1014225 rs1403660333 GRCh37: 15:65369511-65369511
GRCh38: 15:65077173-65077173
28 KBTBD13 NM_001101362.3(KBTBD13):c.623G>A (p.Gly208Asp) SNV Uncertain Significance
1018749 rs1198118426 GRCh37: 15:65369776-65369776
GRCh38: 15:65077438-65077438
29 KBTBD13 NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His) SNV Uncertain Significance
393161 rs939242678 GRCh37: 15:65369350-65369350
GRCh38: 15:65077012-65077012
30 KBTBD13 NM_001101362.3(KBTBD13):c.415G>A (p.Glu139Lys) SNV Uncertain Significance
1021932 rs1244821047 GRCh37: 15:65369568-65369568
GRCh38: 15:65077230-65077230
31 KBTBD13 NM_001101362.3(KBTBD13):c.1129G>A (p.Gly377Ser) SNV Uncertain Significance
1036361 rs1322919655 GRCh37: 15:65370282-65370282
GRCh38: 15:65077944-65077944
32 KBTBD13 NM_001101362.3(KBTBD13):c.703G>A (p.Gly235Ser) SNV Uncertain Significance
1036820 rs1278649126 GRCh37: 15:65369856-65369856
GRCh38: 15:65077518-65077518
33 KBTBD13 NM_001101362.3(KBTBD13):c.121C>T (p.Arg41Trp) SNV Uncertain Significance
1037225 rs775442274 GRCh37: 15:65369274-65369274
GRCh38: 15:65076936-65076936
34 KBTBD13 NM_001101362.3(KBTBD13):c.-20_265del (p.Met1_Gln89del) DEL Uncertain Significance
1037884 rs2086974277 GRCh37: 15:65369133-65369417
GRCh38: 15:65076795-65077079
35 KBTBD13 NM_001101362.3(KBTBD13):c.901G>T (p.Ala301Ser) SNV Uncertain Significance
995130 rs540070816 GRCh37: 15:65370054-65370054
GRCh38: 15:65077716-65077716
36 KBTBD13 NM_001101362.3(KBTBD13):c.842C>T (p.Ala281Val) SNV Uncertain Significance
1387756 GRCh37: 15:65369995-65369995
GRCh38: 15:65077657-65077657
37 KBTBD13 NM_001101362.3(KBTBD13):c.131G>C (p.Arg44Pro) SNV Uncertain Significance
1394516 GRCh37: 15:65369284-65369284
GRCh38: 15:65076946-65076946
38 KBTBD13 NM_001101362.3(KBTBD13):c.1060T>C (p.Tyr354His) SNV Uncertain Significance
1382618 GRCh37: 15:65370213-65370213
GRCh38: 15:65077875-65077875
39 KBTBD13 NM_001101362.3(KBTBD13):c.86del (p.Cys29fs) DEL Uncertain Significance
1368417 GRCh37: 15:65369239-65369239
GRCh38: 15:65076901-65076901
40 KBTBD13 NM_001101362.3(KBTBD13):c.16C>G (p.Gln6Glu) SNV Uncertain Significance
1382341 GRCh37: 15:65369169-65369169
GRCh38: 15:65076831-65076831
41 KBTBD13 NM_001101362.3(KBTBD13):c.1373T>C (p.Leu458Pro) SNV Uncertain Significance
1362109 GRCh37: 15:65370526-65370526
GRCh38: 15:65078188-65078188
42 KBTBD13 NM_001101362.3(KBTBD13):c.247G>T (p.Glu83Ter) SNV Uncertain Significance
1364404 GRCh37: 15:65369400-65369400
GRCh38: 15:65077062-65077062
43 KBTBD13 NM_001101362.3(KBTBD13):c.1265G>A (p.Arg422Gln) SNV Uncertain Significance
1406339 GRCh37: 15:65370418-65370418
GRCh38: 15:65078080-65078080
44 KBTBD13 NM_001101362.3(KBTBD13):c.75_76delinsCT (p.Val26Leu) INDEL Uncertain Significance
1420272 GRCh37: 15:65369228-65369229
GRCh38: 15:65076890-65076891
45 KBTBD13 NM_001101362.3(KBTBD13):c.76G>A (p.Val26Met) SNV Uncertain Significance
1420317 GRCh37: 15:65369229-65369229
GRCh38: 15:65076891-65076891
46 KBTBD13 NM_001101362.3(KBTBD13):c.946G>A (p.Asp316Asn) SNV Uncertain Significance
1378094 GRCh37: 15:65370099-65370099
GRCh38: 15:65077761-65077761
47 KBTBD13 NM_001101362.3(KBTBD13):c.1108G>C (p.Asp370His) SNV Uncertain Significance
1469073 GRCh37: 15:65370261-65370261
GRCh38: 15:65077923-65077923
48 KBTBD13 NM_001101362.3(KBTBD13):c.118A>G (p.Met40Val) SNV Uncertain Significance
1481987 GRCh37: 15:65369271-65369271
GRCh38: 15:65076933-65076933
49 KBTBD13 NM_001101362.3(KBTBD13):c.887C>T (p.Ala296Val) SNV Uncertain Significance
1448836 GRCh37: 15:65370040-65370040
GRCh38: 15:65077702-65077702
50 KBTBD13 NM_001101362.3(KBTBD13):c.405G>C (p.Glu135Asp) SNV Uncertain Significance
1436078 GRCh37: 15:65369558-65369558
GRCh38: 15:65077220-65077220

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 rs1364598710
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....