Nemaline Myopathy 8 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: NML025 MIFTS: 21	Nemaline Myopathy 8 Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Download Expand all tables

Sources

Aliases & Classifications for Nemaline Myopathy 8

MalaCards integrated aliases for Nemaline Myopathy 8:

Name: Nemaline Myopathy 8 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶ ⁷³

Nemaline Myopathy 8, Autosomal Recessive ⁵⁷ ¹² ⁷⁵

Nem8 ⁵⁷ ¹² ⁷⁵

Myopathy, Nemaline, Type 8 ⁴⁰

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Muscle diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615348

Disease Ontology ¹² DOID:0110930

MedGen ⁴² C3809209 CN178405

MeSH ⁴⁴ D017696

SNOMED-CT via HPO ⁶⁹ 203598005 385522000 55033002 more

UMLS ⁷³ C3809209

Sources

Summaries for Nemaline Myopathy 8

UniProtKB/Swiss-Prot : ⁷⁵ Nemaline myopathy 8: A severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils.

MalaCards based summary : Nemaline Myopathy 8, is also known as nemaline myopathy 8, autosomal recessive. An important gene associated with Nemaline Myopathy 8 is KLHL40 (Kelch Like Family Member 40). Affiliated tissues include skeletal muscle, and related phenotypes are dysphagia and facial palsy

OMIM : ⁵⁷ Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by Ravenscroft et al., 2013). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). (615348)

Disease Ontology : ¹² A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has material basis in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22.

Sources

Related Diseases for Nemaline Myopathy 8

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

Sources

Symptoms & Phenotypes for Nemaline Myopathy 8

Clinical features from OMIM:

615348

Human phenotypes related to Nemaline Myopathy 8:

³² (show all 9)

#	Description	HPO Source Accession
1	dysphagia ³²	HP:0002015
2	facial palsy ³²	HP:0010628
3	flexion contracture ³²	HP:0001371
4	abnormality of the thorax ³²	HP:0000765
5	nemaline bodies ³²	HP:0003798
6	respiratory failure ³²	HP:0002878
7	hypokinesia ³²	HP:0002375
8	myofibrillar myopathy ³²	HP:0003715
9	fetal akinesia sequence ³²	HP:0001989

Sources

Drugs & Therapeutics for Nemaline Myopathy 8

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 8

Sources

Genetic Tests for Nemaline Myopathy 8

Genetic tests related to Nemaline Myopathy 8:

#	Genetic test	Affiliating Genes
1	Nemaline Myopathy 8 ²⁹	KLHL40

Sources

Anatomical Context for Nemaline Myopathy 8

MalaCards organs/tissues related to Nemaline Myopathy 8:

⁴¹

Skeletal Muscle

Sources

Publications for Nemaline Myopathy 8

Sources

Genes for Nemaline Myopathy 8

Genes related to Nemaline Myopathy 8 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KLHL40	Kelch Like Family Member 40	Protein Coding	1354.5	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	23746549 20301465

Sources

Variations for Nemaline Myopathy 8

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 8:

⁷⁵ (show all 13)

#	Symbol	AA change	Variation ID	SNP ID
1	KLHL40	p.Asp34His	VAR_069836	rs778565563
2	KLHL40	p.Leu86Pro	VAR_069837
3	KLHL40	p.Val194Glu	VAR_069838
4	KLHL40	p.Trp201Leu	VAR_069839	rs397509420
5	KLHL40	p.Arg311Leu	VAR_069840
6	KLHL40	p.Pro397Leu	VAR_069841	rs773649133
7	KLHL40	p.His455Arg	VAR_069842	rs770866675
8	KLHL40	p.Gly469Cys	VAR_069843	rs367579275
9	KLHL40	p.Thr506Pro	VAR_069844	rs778022582
10	KLHL40	p.Glu528Lys	VAR_069845	rs397509419
11	KLHL40	p.Ala538Pro	VAR_069846	rs397509421
12	KLHL40	p.Glu588Lys	VAR_069847	rs201856772
13	KLHL40	p.Ala505Pro	VAR_077952

ClinVar genetic disease variations for Nemaline Myopathy 8:

⁶

(show top 50) (show all 98)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KLHL40	NM_152393.3(KLHL40): c.1582G> A (p.Glu528Lys)	single nucleotide variant	Pathogenic	rs397509419	GRCh37	Chromosome 3, 42730521: 42730521
2	KLHL40	NM_152393.3(KLHL40): c.1582G> A (p.Glu528Lys)	single nucleotide variant	Pathogenic	rs397509419	GRCh38	Chromosome 3, 42689029: 42689029
3	KLHL40	NM_152393.3(KLHL40): c.1405G> T (p.Gly469Cys)	single nucleotide variant	Pathogenic	rs367579275	GRCh37	Chromosome 3, 42730193: 42730193
4	KLHL40	NM_152393.3(KLHL40): c.1405G> T (p.Gly469Cys)	single nucleotide variant	Pathogenic	rs367579275	GRCh38	Chromosome 3, 42688701: 42688701
5	KLHL40	NM_152393.3(KLHL40): c.602G> T (p.Trp201Leu)	single nucleotide variant	Pathogenic	rs397509420	GRCh37	Chromosome 3, 42727712: 42727712
6	KLHL40	NM_152393.3(KLHL40): c.602G> T (p.Trp201Leu)	single nucleotide variant	Pathogenic	rs397509420	GRCh38	Chromosome 3, 42686220: 42686220
7	KLHL40	NM_152393.3(KLHL40): c.1612G> C (p.Ala538Pro)	single nucleotide variant	Pathogenic	rs397509421	GRCh37	Chromosome 3, 42732355: 42732355
8	KLHL40	NM_152393.3(KLHL40): c.1612G> C (p.Ala538Pro)	single nucleotide variant	Pathogenic	rs397509421	GRCh38	Chromosome 3, 42690863: 42690863
9	KLHL40	NM_152393.3(KLHL40): c.602G> A (p.Trp201Ter)	single nucleotide variant	Pathogenic	rs397509420	GRCh37	Chromosome 3, 42727712: 42727712
10	KLHL40	NM_152393.3(KLHL40): c.602G> A (p.Trp201Ter)	single nucleotide variant	Pathogenic	rs397509420	GRCh38	Chromosome 3, 42686220: 42686220
11	KLHL40	NM_152393.3(KLHL40): c.324A> G (p.Ala108=)	single nucleotide variant	Benign	rs35033264	GRCh37	Chromosome 3, 42727434: 42727434
12	KLHL40	NM_152393.3(KLHL40): c.324A> G (p.Ala108=)	single nucleotide variant	Benign	rs35033264	GRCh38	Chromosome 3, 42685942: 42685942
13	KLHL40	NM_152393.3(KLHL40): c.648G> T (p.Ala216=)	single nucleotide variant	Benign/Likely benign	rs200613578	GRCh37	Chromosome 3, 42727758: 42727758
14	KLHL40	NM_152393.3(KLHL40): c.648G> T (p.Ala216=)	single nucleotide variant	Benign/Likely benign	rs200613578	GRCh38	Chromosome 3, 42686266: 42686266
15	KLHL40	NM_152393.3(KLHL40): c.872A> C (p.Lys291Thr)	single nucleotide variant	Benign	rs74843241	GRCh37	Chromosome 3, 42727982: 42727982
16	KLHL40	NM_152393.3(KLHL40): c.872A> C (p.Lys291Thr)	single nucleotide variant	Benign	rs74843241	GRCh38	Chromosome 3, 42686490: 42686490
17	KLHL40	NM_152393.3(KLHL40): c.1053C> T (p.His351=)	single nucleotide variant	Benign	rs61736693	GRCh38	Chromosome 3, 42686671: 42686671
18	KLHL40	NM_152393.3(KLHL40): c.1053C> T (p.His351=)	single nucleotide variant	Benign	rs61736693	GRCh37	Chromosome 3, 42728163: 42728163
19	KLHL40	NM_152393.3(KLHL40): c.1104C> T (p.Phe368=)	single nucleotide variant	Benign	rs147863385	GRCh37	Chromosome 3, 42728214: 42728214
20	KLHL40	NM_152393.3(KLHL40): c.1104C> T (p.Phe368=)	single nucleotide variant	Benign	rs147863385	GRCh38	Chromosome 3, 42686722: 42686722
21	KLHL40	NM_152393.3(KLHL40): c.1540G> A (p.Val514Met)	single nucleotide variant	Benign	rs146266900	GRCh37	Chromosome 3, 42730479: 42730479
22	KLHL40	NM_152393.3(KLHL40): c.1540G> A (p.Val514Met)	single nucleotide variant	Benign	rs146266900	GRCh38	Chromosome 3, 42688987: 42688987
23	KLHL40	NM_152393.3(KLHL40): c.1738C> A (p.Leu580Ile)	single nucleotide variant	Benign	rs149980411	GRCh37	Chromosome 3, 42732481: 42732481
24	KLHL40	NM_152393.3(KLHL40): c.1738C> A (p.Leu580Ile)	single nucleotide variant	Benign	rs149980411	GRCh38	Chromosome 3, 42690989: 42690989
25	KLHL40	NM_152393.3(KLHL40): c.1768_1770delGAG (p.Glu590del)	deletion	Benign	rs142843476	GRCh37	Chromosome 3, 42733387: 42733389
26	KLHL40	NM_152393.3(KLHL40): c.1768_1770delGAG (p.Glu590del)	deletion	Benign	rs142843476	GRCh38	Chromosome 3, 42691895: 42691897
27	KLHL40	NM_152393.3(KLHL40): c.968T> G (p.Ile323Ser)	single nucleotide variant	Uncertain significance	rs146161469	GRCh37	Chromosome 3, 42728078: 42728078
28	KLHL40	NM_152393.3(KLHL40): c.968T> G (p.Ile323Ser)	single nucleotide variant	Uncertain significance	rs146161469	GRCh38	Chromosome 3, 42686586: 42686586
29	KLHL40	NM_152393.3(KLHL40): c.1313+7A> G	single nucleotide variant	Benign/Likely benign	rs185171192	GRCh38	Chromosome 3, 42688309: 42688309
30	KLHL40	NM_152393.3(KLHL40): c.1313+7A> G	single nucleotide variant	Benign/Likely benign	rs185171192	GRCh37	Chromosome 3, 42729801: 42729801
31	KLHL40	NM_152393.3(KLHL40): c.1200G> A (p.Ser400=)	single nucleotide variant	Likely benign	rs759134022	GRCh37	Chromosome 3, 42729681: 42729681
32	KLHL40	NM_152393.3(KLHL40): c.1200G> A (p.Ser400=)	single nucleotide variant	Likely benign	rs759134022	GRCh38	Chromosome 3, 42688189: 42688189
33	KLHL40	NM_152393.3(KLHL40): c.1251C> G (p.Val417=)	single nucleotide variant	Benign	rs9872183	GRCh37	Chromosome 3, 42729732: 42729732
34	KLHL40	NM_152393.3(KLHL40): c.1251C> G (p.Val417=)	single nucleotide variant	Benign	rs9872183	GRCh38	Chromosome 3, 42688240: 42688240
35	KLHL40	NM_152393.3(KLHL40): c.1498C> T (p.Arg500Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs758188096	GRCh38	Chromosome 3, 42688945: 42688945
36	KLHL40	NM_152393.3(KLHL40): c.1498C> T (p.Arg500Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs758188096	GRCh37	Chromosome 3, 42730437: 42730437
37	KLHL40	NM_152393.3(KLHL40): c.447C> T (p.Ala149=)	single nucleotide variant	Benign/Likely benign	rs138852341	GRCh37	Chromosome 3, 42727557: 42727557
38	KLHL40	NM_152393.3(KLHL40): c.447C> T (p.Ala149=)	single nucleotide variant	Benign/Likely benign	rs138852341	GRCh38	Chromosome 3, 42686065: 42686065
39	KLHL40	NM_152393.3(KLHL40): c.1355T> C (p.Val452Ala)	single nucleotide variant	Uncertain significance	rs140389534	GRCh37	Chromosome 3, 42730143: 42730143
40	KLHL40	NM_152393.3(KLHL40): c.1355T> C (p.Val452Ala)	single nucleotide variant	Uncertain significance	rs140389534	GRCh38	Chromosome 3, 42688651: 42688651
41	KLHL40	NM_152393.3(KLHL40): c.97C> T (p.Leu33Phe)	single nucleotide variant	Likely benign	rs138075372	GRCh37	Chromosome 3, 42727207: 42727207
42	KLHL40	NM_152393.3(KLHL40): c.97C> T (p.Leu33Phe)	single nucleotide variant	Likely benign	rs138075372	GRCh38	Chromosome 3, 42685715: 42685715
43	KLHL40	NM_152393.3(KLHL40): c.643C> T (p.Arg215Cys)	single nucleotide variant	Uncertain significance	rs376618797	GRCh37	Chromosome 3, 42727753: 42727753
44	KLHL40	NM_152393.3(KLHL40): c.643C> T (p.Arg215Cys)	single nucleotide variant	Uncertain significance	rs376618797	GRCh38	Chromosome 3, 42686261: 42686261
45	KLHL40	NM_152393.3(KLHL40): c.1306G> A (p.Asp436Asn)	single nucleotide variant	Uncertain significance	rs372145157	GRCh37	Chromosome 3, 42729787: 42729787
46	KLHL40	NM_152393.3(KLHL40): c.1306G> A (p.Asp436Asn)	single nucleotide variant	Uncertain significance	rs372145157	GRCh38	Chromosome 3, 42688295: 42688295
47	KLHL40	NM_152393.3(KLHL40): c.1621G> A (p.Glu541Lys)	single nucleotide variant	Uncertain significance	rs142761414	GRCh37	Chromosome 3, 42732364: 42732364
48	KLHL40	NM_152393.3(KLHL40): c.1621G> A (p.Glu541Lys)	single nucleotide variant	Uncertain significance	rs142761414	GRCh38	Chromosome 3, 42690872: 42690872
49	KLHL40	NM_152393.3(KLHL40): c.1294G> T (p.Val432Phe)	single nucleotide variant	Uncertain significance	rs759601864	GRCh38	Chromosome 3, 42688283: 42688283
50	KLHL40	NM_152393.3(KLHL40): c.81G> A (p.Leu27=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 3, 42727191: 42727191

Sources

Expression for Nemaline Myopathy 8

Search GEO for disease gene expression data for Nemaline Myopathy 8.

Sources

Pathways for Nemaline Myopathy 8

Sources

GO Terms for Nemaline Myopathy 8

Sources

Sources for Nemaline Myopathy 8

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia