MCID: NML025
MIFTS: 21

Nemaline Myopathy 8

Categories: 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 75 29 6 73
Nemaline Myopathy 8, Autosomal Recessive 57 12 75
Nem8 57 12 75
Myopathy, Nemaline, Type 8 40

Classifications:



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.

Related Diseases for Nemaline Myopathy 8

Symptoms & Phenotypes for Nemaline Myopathy 8

Clinical features from OMIM:

615348

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 respiratory failure 32 HP:0002878
7 hypokinesia 32 HP:0002375
8 myofibrillar myopathy 32 HP:0003715
9 fetal akinesia sequence 32 HP:0001989

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

Anatomical Context for Nemaline Myopathy 8

MalaCards organs/tissues related to Nemaline Myopathy 8:

41
Skeletal Muscle

Publications for Nemaline Myopathy 8

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

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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