NEM8
MCID: NML025
MIFTS: 25

Nemaline Myopathy 8 (NEM8)

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

Aliases & Classifications for Nemaline Myopathy 8

MalaCards integrated aliases for Nemaline Myopathy 8:

Name: Nemaline Myopathy 8 57 12 74 29 6 15 72
Nemaline Myopathy 8, Autosomal Recessive 57 12 74 29
Nem8 57 12 74
Myopathy, Nemaline, Type 8 40

Characteristics:

HPO:

32
nemaline myopathy 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110930
MeSH 44 D017696
UMLS 72 C3809209

Summaries for Nemaline Myopathy 8

UniProtKB/Swiss-Prot : 74 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

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.

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)

Related Diseases for Nemaline Myopathy 8

Symptoms & Phenotypes for Nemaline Myopathy 8

Human phenotypes related to Nemaline Myopathy 8:

32 (show all 9)
# Description HPO Frequency 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 fetal akinesia sequence 32 HP:0001989
7 respiratory failure 32 HP:0002878
8 hypokinesia 32 HP:0002375
9 myofibrillar myopathy 32 HP:0003715

Clinical features from OMIM:

615348

Drugs & Therapeutics for Nemaline Myopathy 8

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 8

Genetic Tests for Nemaline Myopathy 8

Genetic tests related to Nemaline Myopathy 8:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 8 29 KLHL40
2 Nemaline Myopathy 8, Autosomal Recessive 29

Anatomical Context for Nemaline Myopathy 8

MalaCards organs/tissues related to Nemaline Myopathy 8:

41
Skeletal Muscle

Publications for Nemaline Myopathy 8

Articles related to Nemaline Myopathy 8:

# Title Authors PMID Year
1
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. 8 71
23746549 2013
2
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. 8
24960163 2014
3
Nemaline Myopathy 71
20301465 2002

Variations for Nemaline Myopathy 8

ClinVar genetic disease variations for Nemaline Myopathy 8:

6 (show top 50) (show all 94)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KLHL40 NM_152393.4(KLHL40): c.1395C> A (p.Tyr465Ter) single nucleotide variant Pathogenic rs139588377 3:42730183-42730183 3:42688691-42688691
2 KLHL40 NM_152393.4(KLHL40): c.1582G> A (p.Glu528Lys) single nucleotide variant Pathogenic rs397509419 3:42730521-42730521 3:42689029-42689029
3 KLHL40 NM_152393.4(KLHL40): c.1405G> T (p.Gly469Cys) single nucleotide variant Pathogenic rs367579275 3:42730193-42730193 3:42688701-42688701
4 KLHL40 NM_152393.4(KLHL40): c.602G> T (p.Trp201Leu) single nucleotide variant Pathogenic rs397509420 3:42727712-42727712 3:42686220-42686220
5 KLHL40 NM_152393.4(KLHL40): c.1612G> C (p.Ala538Pro) single nucleotide variant Pathogenic rs397509421 3:42732355-42732355 3:42690863-42690863
6 KLHL40 NM_152393.4(KLHL40): c.602G> A (p.Trp201Ter) single nucleotide variant Pathogenic rs397509420 3:42727712-42727712 3:42686220-42686220
7 KLHL40 NM_152393.4(KLHL40): c.631del (p.Ala211fs) deletion Pathogenic 3:42727741-42727741 3:42686249-42686249
8 KLHL40 NM_152393.4(KLHL40): c.818dup (p.Lys275fs) duplication Pathogenic 3:42727928-42727928 3:42686436-42686436
9 KLHL40 NM_152393.4(KLHL40): c.1498C> T (p.Arg500Cys) single nucleotide variant Pathogenic/Likely pathogenic rs758188096 3:42730437-42730437 3:42688945-42688945
10 KLHL40 NM_152393.4(KLHL40): c.1153-2A> T single nucleotide variant Likely pathogenic rs752493018 3:42729632-42729632 3:42688140-42688140
11 KLHL40 NM_152393.4(KLHL40): c.1421+1G> T single nucleotide variant Likely pathogenic 3:42730210-42730210 3:42688718-42688718
12 KLHL40 NM_152393.4(KLHL40): c.1152+2T> A single nucleotide variant Likely pathogenic 3:42728264-42728264 3:42686772-42686772
13 KLHL40 NM_152393.4(KLHL40): c.931C> A (p.Arg311Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs763283033 3:42728041-42728041 3:42686549-42686549
14 KLHL40 NM_152393.4(KLHL40): c.1204C> T (p.Arg402Cys) single nucleotide variant Uncertain significance rs149076152 3:42729685-42729685 3:42688193-42688193
15 KLHL40 NM_152393.4(KLHL40): c.1477C> G (p.Leu493Val) single nucleotide variant Uncertain significance rs375270697 3:42730416-42730416 3:42688924-42688924
16 KLHL40 NM_152393.4(KLHL40): c.1345C> T (p.Pro449Ser) single nucleotide variant Uncertain significance rs1194342086 3:42730133-42730133 3:42688641-42688641
17 KLHL40 NM_152393.4(KLHL40): c.197C> G (p.Pro66Arg) single nucleotide variant Uncertain significance rs200810691 3:42727307-42727307 3:42685815-42685815
18 KLHL40 NM_152393.4(KLHL40): c.1709C> T (p.Thr570Met) single nucleotide variant Uncertain significance rs139268932 3:42732452-42732452 3:42690960-42690960
19 KLHL40 NM_152393.4(KLHL40): c.1450G> A (p.Asp484Asn) single nucleotide variant Uncertain significance rs372246096 3:42730389-42730389 3:42688897-42688897
20 KLHL40 NM_152393.4(KLHL40): c.1381A> G (p.Met461Val) single nucleotide variant Uncertain significance rs776547008 3:42730169-42730169 3:42688677-42688677
21 KLHL40 NM_152393.4(KLHL40): c.1746C> A (p.Asp582Glu) single nucleotide variant Uncertain significance rs202096553 3:42732489-42732489 3:42690997-42690997
22 KLHL40 NM_152393.4(KLHL40): c.643C> T (p.Arg215Cys) single nucleotide variant Uncertain significance rs376618797 3:42727753-42727753 3:42686261-42686261
23 KLHL40 NM_152393.4(KLHL40): c.1306G> A (p.Asp436Asn) single nucleotide variant Uncertain significance rs372145157 3:42729787-42729787 3:42688295-42688295
24 KLHL40 NM_152393.4(KLHL40): c.1621G> A (p.Glu541Lys) single nucleotide variant Uncertain significance rs142761414 3:42732364-42732364 3:42690872-42690872
25 KLHL40 NM_152393.4(KLHL40): c.1355T> C (p.Val452Ala) single nucleotide variant Uncertain significance rs140389534 3:42730143-42730143 3:42688651-42688651
26 KLHL40 NM_152393.4(KLHL40): c.1273G> A (p.Gly425Ser) single nucleotide variant Uncertain significance rs138791086 3:42729754-42729754 3:42688262-42688262
27 KLHL40 NM_152393.4(KLHL40): c.1372_1383del (p.Leu458_Met461del) deletion Uncertain significance rs1553680747 3:42730160-42730171 3:42688668-42688679
28 KLHL40 NM_152393.4(KLHL40): c.1294G> T (p.Val432Phe) single nucleotide variant Uncertain significance rs759601864 3:42729775-42729775 3:42688283-42688283
29 KLHL40 NM_152393.4(KLHL40): c.413G> C (p.Arg138Pro) single nucleotide variant Uncertain significance rs142285083 3:42727523-42727523 3:42686031-42686031
30 KLHL40 NM_152393.4(KLHL40): c.486G> A (p.Leu162=) single nucleotide variant Uncertain significance 3:42727596-42727596 3:42686104-42686104
31 KLHL40 NM_152393.4(KLHL40): c.511G> A (p.Gly171Arg) single nucleotide variant Uncertain significance 3:42727621-42727621 3:42686129-42686129
32 KLHL40 NM_152393.4(KLHL40): c.1370T> A (p.Val457Glu) single nucleotide variant Uncertain significance 3:42730158-42730158 3:42688666-42688666
33 KLHL40 NM_152393.4(KLHL40): c.1640G> A (p.Arg547His) single nucleotide variant Uncertain significance 3:42732383-42732383 3:42690891-42690891
34 KLHL40 NM_152393.4(KLHL40): c.1792C> T (p.Arg598Trp) single nucleotide variant Uncertain significance 3:42733411-42733411 3:42691919-42691919
35 KLHL40 NM_152393.4(KLHL40): c.1396G> A (p.Val466Ile) single nucleotide variant Uncertain significance 3:42730184-42730184 3:42688692-42688692
36 KLHL40 NM_152393.4(KLHL40): c.613G> T (p.Gly205Cys) single nucleotide variant Uncertain significance 3:42727723-42727723 3:42686231-42686231
37 KLHL40 NM_152393.4(KLHL40): c.100G> C (p.Asp34His) single nucleotide variant Uncertain significance 3:42727210-42727210 3:42685718-42685718
38 KLHL40 NM_152393.4(KLHL40): c.108G> A (p.Val36=) single nucleotide variant Uncertain significance 3:42727218-42727218 3:42685726-42685726
39 KLHL40 NM_152393.4(KLHL40): c.119G> A (p.Gly40Asp) single nucleotide variant Uncertain significance 3:42727229-42727229 3:42685737-42685737
40 KLHL40 NM_152393.4(KLHL40): c.125G> A (p.Arg42His) single nucleotide variant Uncertain significance 3:42727235-42727235 3:42685743-42685743
41 KLHL40 NM_152393.4(KLHL40): c.238G> C (p.Asp80His) single nucleotide variant Uncertain significance 3:42727348-42727348 3:42685856-42685856
42 KLHL40 NM_152393.4(KLHL40): c.344C> T (p.Ser115Phe) single nucleotide variant Uncertain significance 3:42727454-42727454 3:42685962-42685962
43 KLHL40 NM_152393.4(KLHL40): c.416T> C (p.Leu139Pro) single nucleotide variant Uncertain significance 3:42727526-42727526 3:42686034-42686034
44 KLHL40 NM_152393.4(KLHL40): c.613G> A (p.Gly205Ser) single nucleotide variant Uncertain significance 3:42727723-42727723 3:42686231-42686231
45 KLHL40 NM_152393.4(KLHL40): c.968T> G (p.Ile323Ser) single nucleotide variant Uncertain significance rs146161469 3:42728078-42728078 3:42686586-42686586
46 KLHL40 NM_152393.4(KLHL40): c.88G> A (p.Gly30Ser) single nucleotide variant Uncertain significance 3:42727198-42727198 3:42685706-42685706
47 KLHL40 NM_152393.4(KLHL40): c.752T> A (p.Leu251Gln) single nucleotide variant Uncertain significance 3:42727862-42727862 3:42686370-42686370
48 KLHL40 NM_152393.4(KLHL40): c.1153-3C> A single nucleotide variant Uncertain significance 3:42729631-42729631 3:42688139-42688139
49 KLHL40 NM_152393.4(KLHL40): c.1504C> A (p.Leu502Ile) single nucleotide variant Uncertain significance 3:42730443-42730443 3:42688951-42688951
50 KLHL40 NM_152393.4(KLHL40): c.1761C> G (p.Asn587Lys) single nucleotide variant Uncertain significance 3:42733380-42733380 3:42691888-42691888

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

74 (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

Expression for Nemaline Myopathy 8

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

Pathways for Nemaline Myopathy 8

GO Terms for Nemaline Myopathy 8

Sources for Nemaline Myopathy 8

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