NEM6
MCID: NML007
MIFTS: 30

Nemaline Myopathy 6 (NEM6)

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

Aliases & Classifications for Nemaline Myopathy 6

MalaCards integrated aliases for Nemaline Myopathy 6:

Name: Nemaline Myopathy 6 57 12 73 29 13 6 71
Nemaline Myopathy 6, Autosomal Dominant 57 12 29
Nem6 57 73
Myopathy, Nemaline, Type 6 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 609273
OMIM Phenotypic Series 57 PS161800
MeSH 44 D017696
MedGen 41 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 05-Mar-2021)

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 : 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 gait disturbance 31 HP:0001288
2 myopathy 31 HP:0003198
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®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

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. 6 57
21109227 2010
2
Nemaline myopathy type 6: clinical and myopathological features. 6 57
21104864 2010
3
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. 6 57
12805120 2003
4
A new phenotype of autosomal dominant nemaline myopathy. 57
11731279 2002
5
250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands. 61
32919842 2020

Variations for Nemaline Myopathy 6

ClinVar genetic disease variations for Nemaline Myopathy 6:

6 (show top 50) (show all 203)
# 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 rs1364598710 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 KBTBD13 NM_001101362.2(KBTBD13):c.244G>A (p.Val82Met) SNV Pathogenic 435545 rs1303411209 15:65369397-65369397 15:65077059-65077059
5 HACD3 Deletion Likely pathogenic 560063 15:63414894-66439797
6 KBTBD13 NM_001101362.2(KBTBD13):c.394G>A (p.Gly132Ser) SNV Conflicting interpretations of pathogenicity 316741 rs373039171 15:65369547-65369547 15:65077209-65077209
7 KBTBD13 NM_001101362.2(KBTBD13):c.162C>T (p.Ser54=) SNV Conflicting interpretations of pathogenicity 763184 rs1162054356 15:65369315-65369315 15:65076977-65076977
8 KBTBD13 NM_001101362.2(KBTBD13):c.228C>G (p.Asp76Glu) SNV Conflicting interpretations of pathogenicity 316735 rs777431652 15:65369381-65369381 15:65077043-65077043
9 KBTBD13 NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) SNV Conflicting interpretations of pathogenicity 499718 rs767384093 15:65369443-65369443 15:65077105-65077105
10 KBTBD13 NM_001101362.2(KBTBD13):c.1191G>C (p.Val397=) SNV Conflicting interpretations of pathogenicity 706268 rs376673920 15:65370344-65370344 15:65078006-65078006
11 KBTBD13 NM_001101362.3(KBTBD13):c.*380A>G SNV Uncertain significance 884442 15:65370910-65370910 15:65078572-65078572
12 KBTBD13 NM_001101362.3(KBTBD13):c.*403C>A SNV Uncertain significance 884443 15:65370933-65370933 15:65078595-65078595
13 KBTBD13 NM_001101362.3(KBTBD13):c.*846G>C SNV Uncertain significance 884445 15:65371376-65371376 15:65079038-65079038
14 KBTBD13 NM_001101362.3(KBTBD13):c.*1323A>T SNV Uncertain significance 885369 15:65371853-65371853 15:65079515-65079515
15 KBTBD13 NM_001101362.3(KBTBD13):c.283C>A (p.Arg95Ser) SNV Uncertain significance 887335 15:65369436-65369436 15:65077098-65077098
16 KBTBD13 NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=) SNV Uncertain significance 887336 15:65369462-65369462 15:65077124-65077124
17 KBTBD13 NM_001101362.3(KBTBD13):c.1139C>T (p.Thr380Met) SNV Uncertain significance 887400 15:65370292-65370292 15:65077954-65077954
18 KBTBD13 NM_001101362.3(KBTBD13):c.1175C>T (p.Ala392Val) SNV Uncertain significance 887401 15:65370328-65370328 15:65077990-65077990
19 KBTBD13 NM_001101362.3(KBTBD13):c.396C>G (p.Gly132=) SNV Uncertain significance 887528 15:65369549-65369549 15:65077211-65077211
20 KBTBD13 NM_001101362.3(KBTBD13):c.485C>A (p.Thr162Lys) SNV Uncertain significance 887529 15:65369638-65369638 15:65077300-65077300
21 KBTBD13 NM_001101362.3(KBTBD13):c.649G>A (p.Val217Met) SNV Uncertain significance 887530 15:65369802-65369802 15:65077464-65077464
22 KBTBD13 NM_001101362.3(KBTBD13):c.*174G>A SNV Uncertain significance 887586 15:65370704-65370704 15:65078366-65078366
23 KBTBD13 NM_001101362.3(KBTBD13):c.862G>C (p.Val288Leu) SNV Uncertain significance 917535 15:65370015-65370015 15:65077677-65077677
24 KBTBD13 NM_001101362.3(KBTBD13):c.1183A>C (p.Thr395Pro) SNV Uncertain significance 930550 15:65370336-65370336 15:65077998-65077998
25 KBTBD13 NM_001101362.3(KBTBD13):c.11G>A (p.Gly4Asp) SNV Uncertain significance 931119 15:65369164-65369164 15:65076826-65076826
26 KBTBD13 NM_001101362.3(KBTBD13):c.939_940delinsAT (p.Pro314Ser) Indel Uncertain significance 933519 15:65370092-65370093 15:65077754-65077755
27 KBTBD13 NM_001101362.3(KBTBD13):c.329G>A (p.Cys110Tyr) SNV Uncertain significance 937805 15:65369482-65369482 15:65077144-65077144
28 KBTBD13 NM_001101362.3(KBTBD13):c.101G>A (p.Gly34Asp) SNV Uncertain significance 942450 15:65369254-65369254 15:65076916-65076916
29 KBTBD13 NM_001101362.3(KBTBD13):c.793G>A (p.Gly265Ser) SNV Uncertain significance 947429 15:65369946-65369946 15:65077608-65077608
30 KBTBD13 NM_001101362.3(KBTBD13):c.185T>C (p.Leu62Pro) SNV Uncertain significance 949017 15:65369338-65369338 15:65077000-65077000
31 KBTBD13 NM_001101362.3(KBTBD13):c.1346G>T (p.Gly449Val) SNV Uncertain significance 951311 15:65370499-65370499 15:65078161-65078161
32 KBTBD13 NM_001101362.3(KBTBD13):c.1291C>T (p.Pro431Ser) SNV Uncertain significance 951321 15:65370444-65370444 15:65078106-65078106
33 KBTBD13 NM_001101362.3(KBTBD13):c.544G>T (p.Glu182Ter) SNV Uncertain significance 953468 15:65369697-65369697 15:65077359-65077359
34 KBTBD13 NM_001101362.3(KBTBD13):c.350_351delinsCA (p.Gly117Ala) Indel Uncertain significance 954320 15:65369503-65369504 15:65077165-65077166
35 KBTBD13 NM_001101362.3(KBTBD13):c.412G>A (p.Ala138Thr) SNV Uncertain significance 958919 15:65369565-65369565 15:65077227-65077227
36 KBTBD13 NM_001101362.3(KBTBD13):c.1163A>G (p.Asn388Ser) SNV Uncertain significance 960798 15:65370316-65370316 15:65077978-65077978
37 KBTBD13 NM_001101362.3(KBTBD13):c.1006C>A (p.Leu336Met) SNV Uncertain significance 960861 15:65370159-65370159 15:65077821-65077821
38 KBTBD13 NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro) SNV Uncertain significance 963231 15:65369649-65369649 15:65077311-65077311
39 KBTBD13 NM_001101362.3(KBTBD13):c.412_423dup (p.Ala138_Ala141dup) Duplication Uncertain significance 966743 15:65369558-65369559 15:65077220-65077221
40 KBTBD13 NM_001101362.3(KBTBD13):c.537C>G (p.Tyr179Ter) SNV Uncertain significance 970961 15:65369690-65369690 15:65077352-65077352
41 KBTBD13 NM_001101362.2(KBTBD13):c.938G>T (p.Arg313Leu) SNV Uncertain significance 532993 rs1399367095 15:65370091-65370091 15:65077753-65077753
42 KBTBD13 NM_001101362.2(KBTBD13):c.206G>A (p.Arg69Gln) SNV Uncertain significance 532994 rs762769253 15:65369359-65369359 15:65077021-65077021
43 KBTBD13 NM_001101362.2(KBTBD13):c.778C>T (p.Leu260Phe) SNV Uncertain significance 532995 rs769416249 15:65369931-65369931 15:65077593-65077593
44 KBTBD13 NM_001101362.2(KBTBD13):c.1240T>C (p.Tyr414His) SNV Uncertain significance 532996 rs1555407759 15:65370393-65370393 15:65078055-65078055
45 KBTBD13 NM_001101362.2(KBTBD13):c.925G>C (p.Val309Leu) SNV Uncertain significance 532997 rs532324778 15:65370078-65370078 15:65077740-65077740
46 KBTBD13 NM_001101362.2(KBTBD13):c.170del (p.Gly57fs) Deletion Uncertain significance 532998 rs1555407559 15:65369322-65369322 15:65076984-65076984
47 KBTBD13 NM_001101362.2(KBTBD13):c.374C>G (p.Ala125Gly) SNV Uncertain significance 533000 rs575149903 15:65369527-65369527 15:65077189-65077189
48 KBTBD13 NM_001101362.2(KBTBD13):c.146G>T (p.Arg49Leu) SNV Uncertain significance 533001 rs1027726798 15:65369299-65369299 15:65076961-65076961
49 KBTBD13 NM_001101362.2(KBTBD13):c.288T>G (p.Phe96Leu) SNV Uncertain significance 533002 rs759474251 15:65369441-65369441 15:65077103-65077103
50 KBTBD13 NM_001101362.2(KBTBD13):c.251G>C (p.Cys84Ser) SNV Uncertain significance 464351 rs999785767 15:65369404-65369404 15:65077066-65077066

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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