NEM9
MCID: NML021
MIFTS: 33

Nemaline Myopathy 9 (NEM9)

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

Aliases & Classifications for Nemaline Myopathy 9

MalaCards integrated aliases for Nemaline Myopathy 9:

Name: Nemaline Myopathy 9 57 12 73 29 6 15 71
Nem9 57 12 73
Myopathy, Nemaline, Type 9 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
onset at birth or in utero
static or slowly progressive
some more severely affected patients may die in infancy


HPO:

31
nemaline myopathy 9:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0110929
OMIM® 57 615731
OMIM Phenotypic Series 57 PS161800
MeSH 44 D017696
UMLS 71 C3810384

Summaries for Nemaline Myopathy 9

OMIM® : 57 Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013). For a discussion of genetic heterogeneity of nemaline myopathy, see 161800. (615731) (Updated 05-Mar-2021)

MalaCards based summary : Nemaline Myopathy 9, also known as nem9, is related to childhood-onset nemaline myopathy and typical congenital nemaline myopathy, and has symptoms including muscle weakness An important gene associated with Nemaline Myopathy 9 is KLHL41 (Kelch Like Family Member 41). Related phenotypes are scoliosis and high palate

Disease Ontology : 12 A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has material basis in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31.

UniProtKB/Swiss-Prot : 73 Nemaline myopathy 9: An autosomal recessive 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. NEM9 phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood.

Related Diseases for Nemaline Myopathy 9

Graphical network of the top 20 diseases related to Nemaline Myopathy 9:



Diseases related to Nemaline Myopathy 9

Symptoms & Phenotypes for Nemaline Myopathy 9

Human phenotypes related to Nemaline Myopathy 9:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 high palate 31 occasional (7.5%) HP:0000218
3 respiratory insufficiency 31 occasional (7.5%) HP:0002093
4 cleft palate 31 occasional (7.5%) HP:0000175
5 micrognathia 31 occasional (7.5%) HP:0000347
6 fetal akinesia sequence 31 occasional (7.5%) HP:0001989
7 narrow chest 31 occasional (7.5%) HP:0000774
8 arthrogryposis multiplex congenita 31 occasional (7.5%) HP:0002804
9 breech presentation 31 occasional (7.5%) HP:0001623
10 muscle weakness 31 HP:0001324
11 motor delay 31 HP:0001270

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Muscle Soft Tissue:
muscle weakness
loss of ambulation (in some patients)
muscle biopsy shows sarcoplasmic rods in myofibers

Head And Neck Mouth:
cleft palate (in some patients)
high-arched palate (in some patients)

Head And Neck Face:
micrognathia (in some patients)

Chest External Features:
narrow chest (in some patients)

Skeletal:
arthrogryposis (in some patients)
fetal akinesia sequence (in some patients)

Neurologic Central Nervous System:
delayed motor development

Skeletal Spine:
scoliosis (in some patients)

Respiratory:
respiratory insufficiency (in some patients)

Skeletal Limbs:
distal contractures

Prenatal Manifestations Delivery:
breech presentation (in some patients)

Clinical features from OMIM®:

615731 (Updated 05-Mar-2021)

UMLS symptoms related to Nemaline Myopathy 9:


muscle weakness

MGI Mouse Phenotypes related to Nemaline Myopathy 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 KBTBD13 KLHL40 KLHL41 LMOD3

Drugs & Therapeutics for Nemaline Myopathy 9

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 9

Genetic Tests for Nemaline Myopathy 9

Genetic tests related to Nemaline Myopathy 9:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 9 29 KLHL41

Anatomical Context for Nemaline Myopathy 9

Publications for Nemaline Myopathy 9

Articles related to Nemaline Myopathy 9:

# Title Authors PMID Year
1
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. 57 6
24268659 2013

Variations for Nemaline Myopathy 9

ClinVar genetic disease variations for Nemaline Myopathy 9:

6 (show top 50) (show all 67)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KLHL41 NM_006063.3(KLHL41):c.459delinsACTC (p.Ala154_Arg155insLeu) Indel Pathogenic 183241 rs730882257 2:170366747-170366747 2:169510237-169510237
2 KLHL41 NM_006063.3(KLHL41):c.1748_1755del (p.Lys583fs) Deletion Pathogenic 183242 rs730882258 2:170382132-170382139 2:169525622-169525629
3 KLHL41 NM_006063.3(KLHL41):c.641del (p.Asn214fs) Deletion Pathogenic 183243 rs730882235 2:170366925-170366925 2:169510415-169510415
4 KLHL41 NM_006063.3(KLHL41):c.575_577AAG[2] (p.Glu194del) Microsatellite Pathogenic 183244 rs730882259 2:170366863-170366865 2:169510353-169510355
5 KLHL41 NM_006063.3(KLHL41):c.1238C>T (p.Ser413Leu) SNV Pathogenic 183245 rs730882260 2:170371211-170371211 2:169514701-169514701
6 KLHL41 NM_006063.3(KLHL41):c.215dup (p.Glu73fs) Duplication Pathogenic 566091 rs775513051 2:170366495-170366496 2:169509985-169509986
7 KLHL41 NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer) Deletion Pathogenic 581470 rs1247404453 2:170366453-170366460 2:169509943-169509950
8 KLHL41 NM_006063.3(KLHL41):c.930_939del (p.Asn310fs) Deletion Pathogenic 645750 rs1574349645 2:170367217-170367226 2:169510707-169510716
9 KLHL41 NM_006063.3(KLHL41):c.1296del (p.Lys432fs) Deletion Pathogenic 646196 rs1288106608 2:170371385-170371385 2:169514875-169514875
10 KLHL41 NM_006063.3(KLHL41):c.1457C>T (p.Ser486Phe) SNV Uncertain significance 653932 rs373391330 2:170374780-170374780 2:169518270-169518270
11 KLHL41 NM_006063.3(KLHL41):c.1081G>C (p.Asp361His) SNV Uncertain significance 660094 rs150768955 2:170367369-170367369 2:169510859-169510859
12 KLHL41 NM_006063.3(KLHL41):c.1421A>G (p.Asp474Gly) SNV Uncertain significance 661557 rs145810515 2:170374744-170374744 2:169518234-169518234
13 KLHL41 NM_006063.3(KLHL41):c.437A>C (p.Asp146Ala) SNV Uncertain significance 665319 rs553091070 2:170366725-170366725 2:169510215-169510215
14 KLHL41 NM_006063.3(KLHL41):c.667C>A (p.Arg223Ser) SNV Uncertain significance 695017 rs754460870 2:170366955-170366955 2:169510445-169510445
15 KLHL41 NM_006063.3(KLHL41):c.1531T>C (p.Ser511Pro) SNV Uncertain significance 695018 rs1574352719 2:170374854-170374854 2:169518344-169518344
16 KLHL41 NM_006063.3(KLHL41):c.1192G>T (p.Asp398Tyr) SNV Uncertain significance 641410 rs1574351200 2:170371165-170371165 2:169514655-169514655
17 KLHL41 NM_006063.3(KLHL41):c.443C>T (p.Pro148Leu) SNV Uncertain significance 572226 rs772160259 2:170366731-170366731 2:169510221-169510221
18 KLHL41 NM_006063.3(KLHL41):c.1562A>G (p.Lys521Arg) SNV Uncertain significance 541705 rs778003504 2:170374885-170374885 2:169518375-169518375
19 KLHL41 NM_006063.3(KLHL41):c.1696A>G (p.Asn566Asp) SNV Uncertain significance 541706 rs1237694295 2:170377504-170377504 2:169520994-169520994
20 KLHL41 NM_006063.3(KLHL41):c.427_429CTT[2] (p.Leu145del) Microsatellite Uncertain significance 474872 rs760524187 2:170366715-170366717 2:169510205-169510207
21 KLHL41 NM_006063.3(KLHL41):c.1276A>G (p.Lys426Glu) SNV Uncertain significance 474864 rs750512280 2:170371371-170371371 2:169514861-169514861
22 KLHL41 NM_006063.3(KLHL41):c.959C>A (p.Thr320Lys) SNV Uncertain significance 474877 rs781536513 2:170367247-170367247 2:169510737-169510737
23 KLHL41 NM_006063.3(KLHL41):c.175C>T (p.Arg59Cys) SNV Uncertain significance 474868 rs547547946 2:170366463-170366463 2:169509953-169509953
24 KLHL41 NM_006063.3(KLHL41):c.614G>A (p.Arg205Gln) SNV Uncertain significance 474873 rs576773055 2:170366902-170366902 2:169510392-169510392
25 KLHL41 NC_000002.12:g.(?_169509769)_(169525706_?)dup Duplication Uncertain significance 831668 2:170366279-170382216
26 KLHL41 NM_006063.3(KLHL41):c.1454G>A (p.Arg485His) SNV Uncertain significance 839710 2:170374777-170374777 2:169518267-169518267
27 KLHL41 NM_006063.3(KLHL41):c.743T>C (p.Leu248Pro) SNV Uncertain significance 847111 2:170367031-170367031 2:169510521-169510521
28 KLHL41 NM_006063.3(KLHL41):c.994C>A (p.Gln332Lys) SNV Uncertain significance 847721 2:170367282-170367282 2:169510772-169510772
29 KLHL41 NM_006063.3(KLHL41):c.734A>T (p.Asn245Ile) SNV Uncertain significance 850360 2:170367022-170367022 2:169510512-169510512
30 KLHL41 NM_006063.3(KLHL41):c.1516G>T (p.Asp506Tyr) SNV Uncertain significance 854197 2:170374839-170374839 2:169518329-169518329
31 KLHL41 NM_006063.3(KLHL41):c.812C>T (p.Ala271Val) SNV Uncertain significance 856555 2:170367100-170367100 2:169510590-169510590
32 KLHL41 NM_006063.3(KLHL41):c.146T>C (p.Leu49Ser) SNV Uncertain significance 859683 2:170366434-170366434 2:169509924-169509924
33 KLHL41 NM_006063.3(KLHL41):c.170_171delinsCT (p.Tyr57Ser) Indel Uncertain significance 934936 2:170366458-170366459 2:169509948-169509949
34 KLHL41 NM_006063.3(KLHL41):c.1757G>A (p.Arg586His) SNV Uncertain significance 934954 2:170382142-170382142 2:169525632-169525632
35 KLHL41 NM_006063.3(KLHL41):c.843T>G (p.Asp281Glu) SNV Uncertain significance 935006 2:170367131-170367131 2:169510621-169510621
36 KLHL41 NM_006063.3(KLHL41):c.631A>G (p.Arg211Gly) SNV Uncertain significance 945042 2:170366919-170366919 2:169510409-169510409
37 KLHL41 NM_006063.3(KLHL41):c.1482A>T (p.Lys494Asn) SNV Uncertain significance 945391 2:170374805-170374805 2:169518295-169518295
38 KLHL41 NM_006063.3(KLHL41):c.1205T>C (p.Val402Ala) SNV Uncertain significance 947283 2:170371178-170371178 2:169514668-169514668
39 KLHL41 NM_006063.3(KLHL41):c.1268T>C (p.Val423Ala) SNV Uncertain significance 952537 2:170371241-170371241 2:169514731-169514731
40 KLHL41 NM_006063.3(KLHL41):c.581A>C (p.Glu194Ala) SNV Uncertain significance 953084 2:170366869-170366869 2:169510359-169510359
41 KLHL41 NM_006063.3(KLHL41):c.784A>G (p.Lys262Glu) SNV Uncertain significance 953333 2:170367072-170367072 2:169510562-169510562
42 KLHL41 NM_006063.3(KLHL41):c.751A>G (p.Lys251Glu) SNV Uncertain significance 955693 2:170367039-170367039 2:169510529-169510529
43 KLHL41 NM_006063.3(KLHL41):c.519A>T (p.Gln173His) SNV Uncertain significance 955852 2:170366807-170366807 2:169510297-169510297
44 KLHL41 NM_006063.3(KLHL41):c.1116T>C (p.Asp372=) SNV Uncertain significance 958087 2:170371089-170371089 2:169514579-169514579
45 KLHL41 NM_006063.3(KLHL41):c.778G>A (p.Ala260Thr) SNV Uncertain significance 972417 2:170367066-170367066 2:169510556-169510556
46 KLHL41 NM_006063.3(KLHL41):c.197T>C (p.Ile66Thr) SNV Likely benign 474869 rs116809051 2:170366485-170366485 2:169509975-169509975
47 KLHL41 NM_006063.3(KLHL41):c.291T>C (p.Asp97=) SNV Likely benign 474870 rs537913427 2:170366579-170366579 2:169510069-169510069
48 KLHL41 NM_006063.3(KLHL41):c.832G>A (p.Val278Met) SNV Likely benign 474876 rs150233736 2:170367120-170367120 2:169510610-169510610
49 KLHL41 NM_006063.3(KLHL41):c.1569T>C (p.Asp523=) SNV Likely benign 474865 rs373954289 2:170377377-170377377 2:169520867-169520867
50 KLHL41 NM_006063.3(KLHL41):c.1620G>A (p.Leu540=) SNV Likely benign 474867 rs1157611870 2:170377428-170377428 2:169520918-169520918

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 9:

73
# Symbol AA change Variation ID SNP ID
1 KLHL41 p.Ser413Leu VAR_071824 rs730882260

Expression for Nemaline Myopathy 9

Search GEO for disease gene expression data for Nemaline Myopathy 9.

Pathways for Nemaline Myopathy 9

GO Terms for Nemaline Myopathy 9

Cellular components related to Nemaline Myopathy 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 M band GO:0031430 9.16 LMOD3 KLHL41
2 A band GO:0031672 8.96 LMOD3 KLHL40
3 Cul3-RING ubiquitin ligase complex GO:0031463 8.8 KLHL9 KLHL41 KLHL40

Biological processes related to Nemaline Myopathy 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.54 KLHL9 KLHL41 KBTBD13
2 post-translational protein modification GO:0043687 9.43 KLHL9 KLHL41 KBTBD13
3 actin filament organization GO:0007015 9.4 LMOD3 KBTBD13
4 muscle contraction GO:0006936 9.32 MYBPC2 LMOD3
5 striated muscle contraction GO:0006941 9.16 LMOD3 KLHL41
6 myofibril assembly GO:0030239 8.96 LMOD3 KLHL41
7 skeletal muscle fiber development GO:0048741 8.8 LMOD3 KLHL41 KLHL40

Sources for Nemaline Myopathy 9

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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