Nemaline Myopathy 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Muscle diseases Neuronal diseases Respiratory diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0110935

OMIM® ⁵⁷ 609273

OMIM Phenotypic Series ⁵⁷ PS161800

MeSH ⁴³ C538398 D017696

MedGen ⁴⁰ C1836472

SNOMED-CT via HPO ⁶⁹ 129565002 16046003 22325002 more

UMLS ⁷¹ C1836472

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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.

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Related Diseases for Nemaline Myopathy 6

Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 3	Nemaline Myopathy 2
Nemaline Myopathy 5	Nemaline Myopathy 6
Nemaline Myopathy 1	Nemaline Myopathy 4
Nemaline Myopathy 7	Nemaline Myopathy 8
Nemaline Myopathy 9	Nemaline Myopathy 10
Nemaline Myopathy 11, Autosomal Recessive	Adult-Onset Nemaline Myopathy
Intermediate Congenital Nemaline Myopathy	Severe Congenital Nemaline Myopathy
Congenital Nemaline Myopathy

Diseases related to Nemaline Myopathy 6 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	nemaline myopathy	10.0
2	myopathy	10.0
3	batten-turner congenital myopathy	10.0
4	nemaline myopathy 8	9.7	KLHL2 KBTBD13
5	pseudobulbar palsy	9.7	OR56A5 OR52L1
6	x-linked cerebellar ataxia	9.6	OR56A5 KBTBD13 ATP2B4
7	acrofacial dysostosis 1, nager type	9.6	OR56A5 OR52L1

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

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Symptoms & Phenotypes for Nemaline Myopathy 6

Human phenotypes related to Nemaline Myopathy 6:

³⁰ (show all 9)

#	Description	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

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Drugs & Therapeutics for Nemaline Myopathy 6

Search Clinical Trials, NIH Clinical Center for Nemaline Myopathy 6

Cochrane evidence based reviews: nemaline myopathy 6

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Genetic Tests for Nemaline Myopathy 6

Genetic tests related to Nemaline Myopathy 6:

#	Genetic test	Affiliating Genes
1	Nemaline Myopathy 6 ²⁸	KBTBD13

Sources

Anatomical Context for Nemaline Myopathy 6

Organs/tissues related to Nemaline Myopathy 6:

MalaCards : Skeletal Muscle

ODiseA: Skeletal Muscle

Sources

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	Sambuughin N...Goldfarb LG	21109227	2010
2	Nemaline myopathy type 6: clinical and myopathological features. ⁶² ⁵⁷ ⁵	Olive M...Sambuughin N	21104864	2010
3	Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA. ⁵	Yamamoto T...Mari F	24525055	2014
4	A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. ⁵⁷	Gommans IM...Kremer H	12805120	2003
5	A new phenotype of autosomal dominant nemaline myopathy. ⁵⁷	Gommans IM...Vogels OJ	11731279	2002
6	KBTBD13 is a novel cardiomyopathy gene. ⁶²	de Winter JM...Ottenheijm CAC	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	Bouman K...Malfatti E	33693846	2021
8	250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands. ⁶²	Neuhaus SB...nemaline working group	32919842	2020
9	KBTBD13 is an actin-binding protein that modulates muscle kinetics. ⁶²	de Winter JM...Ottenheijm CA	31671076	2020

Sources

Genes for Nemaline Myopathy 6

Genes related to Nemaline Myopathy 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	1339.48	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	21104864 21109227
2	KLHL5	Kelch Like Family Member 5	Protein Coding	7.04	DISEASES inferred ¹⁴
3	OR56A5	Olfactory Receptor Family 56 Subfamily A Member 5	Protein Coding	6.72	DISEASES inferred ¹⁴
4	OR52L1	Olfactory Receptor Family 52 Subfamily L Member 1	Protein Coding	6.18	DISEASES inferred ¹⁴
5	KLHL2	Kelch Like Family Member 2	Protein Coding	5.8	DISEASES inferred ¹⁴
6	ATP2B4	ATPase Plasma Membrane Ca2+ Transporting 4	Protein Coding	5.65	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Nemaline Myopathy 6

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

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Pathways for Nemaline Myopathy 6

Sources

GO Terms for Nemaline Myopathy 6

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Sources for Nemaline Myopathy 6

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Nemaline Myopathy 6 (NEM6)

Aliases & Classifications for Nemaline Myopathy 6

MalaCards integrated aliases for Nemaline Myopathy 6:

Characteristics:

Inheritance:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Nemaline Myopathy 6

Related Diseases for Nemaline Myopathy 6

Diseases in the Nemaline Myopathy family:

Diseases related to Nemaline Myopathy 6 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Nemaline Myopathy 6

Human phenotypes related to Nemaline Myopathy 6:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Nemaline Myopathy 6:

Drugs & Therapeutics for Nemaline Myopathy 6

Cochrane evidence based reviews: nemaline myopathy 6

Genetic Tests for Nemaline Myopathy 6

Genetic tests related to Nemaline Myopathy 6:

Anatomical Context for Nemaline Myopathy 6

Organs/tissues related to Nemaline Myopathy 6:

Publications for Nemaline Myopathy 6

Articles related to Nemaline Myopathy 6:

Genes for Nemaline Myopathy 6

Genes related to Nemaline Myopathy 6 (1 elite genes):

Variations for Nemaline Myopathy 6

ClinVar genetic disease variations for Nemaline Myopathy 6:

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

Expression for Nemaline Myopathy 6

Pathways for Nemaline Myopathy 6

GO Terms for Nemaline Myopathy 6

Sources for Nemaline Myopathy 6