NEM9
MCID: NML021
MIFTS: 34

Nemaline Myopathy 9 (NEM9)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Nemaline Myopathy 9

MalaCards integrated aliases for Nemaline Myopathy 9:

Name: Nemaline Myopathy 9 57 11 73 28 5 14 71
Nem9 57 11 73
Myopathy, Nemaline, Type 9 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
highly variable severity
onset at birth or in utero
static or slowly progressive
some more severely affected patients may die in infancy


HPO:

30
nemaline myopathy 9:
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 11 DOID:0110929
OMIM® 57 615731
OMIM Phenotypic Series 57 PS161800
MeSH 43 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 08-Dec-2022)

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). Affiliated tissues include skeletal muscle, and related phenotypes are scoliosis and high palate

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Related Diseases for Nemaline Myopathy 9

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 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 childhood-onset nemaline myopathy 10.0 KLHL41 KBTBD13
2 typical congenital nemaline myopathy 10.0 LMOD3 KLHL41
3 nemaline myopathy 11, autosomal recessive 9.9 LMOD3 KLHL40
4 neuronopathy, distal hereditary motor, type iia 9.9 LMOD3 KLHL40
5 locked-in syndrome 9.8 LMOD3 KLHL40
6 king-denborough syndrome 9.8 KLHL40 KBTBD13
7 cardiomyopathy, dilated, 1ff 9.8 LMOD3 KBTBD13
8 cardiomyopathy, dilated, 2a 9.8 LMOD3 KBTBD13
9 nemaline myopathy 5 9.8 LMOD3 KBTBD13
10 centronuclear myopathy 9.8 KLHL40 KBTBD13
11 distal hereditary motor neuronopathy type 2 9.8 LMOD3 KLHL40
12 severe congenital nemaline myopathy 9.7 LMOD3 KLHL41 KLHL40
13 spinal muscular atrophy type 0 9.7 LMOD3 KLHL41 KLHL40
14 multiple pterygium syndrome, escobar variant 9.7 LMOD3 KLHL41 KLHL40
15 myopathy, centronuclear, 1 9.7 LMOD3 KLHL40
16 congenital myasthenic syndrome 9.6 KLHL40 KBTBD13
17 myopathy 9.5 LMOD3 KLHL41 KLHL40 KBTBD13
18 nemaline myopathy 10 9.5 LMOD3 KLHL41 KLHL40 KBTBD13
19 nemaline myopathy 8 9.5 LMOD3 KLHL41 KLHL40 KBTBD13
20 nemaline myopathy 2 9.5 LMOD3 KLHL41 KLHL40 KBTBD13
21 congenital structural myopathy 9.5 LMOD3 KLHL41 KLHL40 KBTBD13
22 batten-turner congenital myopathy 9.4 LMOD3 KLHL41 KLHL40 KBTBD13
23 congenital fiber-type disproportion 9.4 LMOD3 KLHL41 KLHL40 KBTBD13
24 distal arthrogryposis 9.2 MYBPC2 LMOD3 KLHL41 KLHL40 KBTBD13

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:

30 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 Occasional (7.5%) HP:0002650
2 high palate 30 Occasional (7.5%) HP:0000218
3 respiratory insufficiency 30 Occasional (7.5%) HP:0002093
4 cleft palate 30 Occasional (7.5%) HP:0000175
5 micrognathia 30 Occasional (7.5%) HP:0000347
6 fetal akinesia sequence 30 Occasional (7.5%) HP:0001989
7 narrow chest 30 Occasional (7.5%) HP:0000774
8 arthrogryposis multiplex congenita 30 Occasional (7.5%) HP:0002804
9 breech presentation 30 Occasional (7.5%) HP:0001623
10 muscle weakness 30 HP:0001324
11 motor delay 30 HP:0001270

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Nemaline Myopathy 9:


muscle weakness

MGI Mouse Phenotypes related to Nemaline Myopathy 9:

45
# 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 28 KLHL41

Anatomical Context for Nemaline Myopathy 9

Organs/tissues related to Nemaline Myopathy 9:

MalaCards : Skeletal Muscle
ODiseA: Skeletal Muscle

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 5
24268659 2013

Variations for Nemaline Myopathy 9

ClinVar genetic disease variations for Nemaline Myopathy 9:

5 (show top 50) (show all 166)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KLHL41 NM_006063.3(KLHL41):c.1416dup (p.Gly473fs) DUP Pathogenic
1324628 GRCh37: 2:170374733-170374734
GRCh38: 2:169518223-169518224
2 KLHL41 NM_006063.3(KLHL41):c.1027C>T (p.Gln343Ter) SNV Pathogenic
1073199 GRCh37: 2:170367315-170367315
GRCh38: 2:169510805-169510805
3 KLHL41 NM_006063.3(KLHL41):c.215dup (p.Glu73fs) DUP Pathogenic
566091 rs775513051 GRCh37: 2:170366495-170366496
GRCh38: 2:169509985-169509986
4 KLHL41 NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer) DEL Pathogenic
581470 rs1247404453 GRCh37: 2:170366453-170366460
GRCh38: 2:169509943-169509950
5 KLHL41 NM_006063.3(KLHL41):c.930_939del (p.Asn310fs) DEL Pathogenic
645750 rs1574349645 GRCh37: 2:170367217-170367226
GRCh38: 2:169510707-169510716
6 KLHL41 NM_006063.3(KLHL41):c.1238C>T (p.Ser413Leu) SNV Pathogenic
183245 rs730882260 GRCh37: 2:170371211-170371211
GRCh38: 2:169514701-169514701
7 KLHL41 NM_006063.3(KLHL41):c.575AAG[2] (p.Glu194del) MICROSAT Pathogenic
183244 rs730882259 GRCh37: 2:170366863-170366865
GRCh38: 2:169510353-169510355
8 KLHL41 NM_006063.3(KLHL41):c.641del (p.Asn214fs) DEL Pathogenic
183243 rs730882235 GRCh37: 2:170366925-170366925
GRCh38: 2:169510415-169510415
9 KLHL41 NM_006063.3(KLHL41):c.1748_1755del (p.Lys583fs) DEL Pathogenic
183242 rs730882258 GRCh37: 2:170382132-170382139
GRCh38: 2:169525622-169525629
10 KLHL41 NM_006063.3(KLHL41):c.1296del (p.Lys432fs) DEL Pathogenic
646196 rs1288106608 GRCh37: 2:170371385-170371385
GRCh38: 2:169514875-169514875
11 KLHL41 NM_006063.3(KLHL41):c.1566G>A (p.Trp522Ter) SNV Pathogenic
1071146 GRCh37: 2:170377374-170377374
GRCh38: 2:169520864-169520864
12 KLHL41 NM_006063.3(KLHL41):c.459delinsACTC (p.Ser153_Ala154insLeu) INDEL Pathogenic
183241 rs730882257 GRCh37: 2:170366747-170366747
GRCh38: 2:169510237-169510237
13 KLHL41 NM_006063.3(KLHL41):c.1307_1308del (p.Lys436fs) DEL Pathogenic
1074897 GRCh37: 2:170371401-170371402
GRCh38: 2:169514891-169514892
14 KLHL41 NM_006063.3(KLHL41):c.1690G>T (p.Glu564Ter) SNV Pathogenic
1459768 GRCh37: 2:170377498-170377498
GRCh38: 2:169520988-169520988
15 KLHL41 NM_006063.3(KLHL41):c.667C>T (p.Arg223Cys) SNV Likely Pathogenic
1465145 GRCh37: 2:170366955-170366955
GRCh38: 2:169510445-169510445
16 KLHL41 NM_006063.3(KLHL41):c.215del (p.Lys72fs) DEL Likely Pathogenic
1324627 GRCh37: 2:170366496-170366496
GRCh38: 2:169509986-169509986
17 KLHL41 NM_006063.3(KLHL41):c.1110+6_1110+8del MICROSAT Uncertain Significance
1009312 rs1186579373 GRCh37: 2:170367401-170367403
GRCh38: 2:169510891-169510893
18 KLHL41 NM_006063.3(KLHL41):c.667C>A (p.Arg223Ser) SNV Uncertain Significance
695017 rs754460870 GRCh37: 2:170366955-170366955
GRCh38: 2:169510445-169510445
19 KLHL41 NM_006063.3(KLHL41):c.1531T>C (p.Ser511Pro) SNV Uncertain Significance
695018 rs1574352719 GRCh37: 2:170374854-170374854
GRCh38: 2:169518344-169518344
20 KLHL41 NC_000002.12:g.(?_169509769)_(169525706_?)dup DUP Uncertain Significance
831668 GRCh37: 2:170366279-170382216
GRCh38:
21 KLHL41 NM_006063.3(KLHL41):c.176G>C (p.Arg59Pro) SNV Uncertain Significance
1030070 rs759521852 GRCh37: 2:170366464-170366464
GRCh38: 2:169509954-169509954
22 KLHL41 NM_006063.3(KLHL41):c.437A>C (p.Asp146Ala) SNV Uncertain Significance
665319 rs553091070 GRCh37: 2:170366725-170366725
GRCh38: 2:169510215-169510215
23 KLHL41 NM_006063.3(KLHL41):c.1454G>A (p.Arg485His) SNV Uncertain Significance
839710 rs760007708 GRCh37: 2:170374777-170374777
GRCh38: 2:169518267-169518267
24 KLHL41 NM_006063.3(KLHL41):c.1516G>T (p.Asp506Tyr) SNV Uncertain Significance
854197 rs746755443 GRCh37: 2:170374839-170374839
GRCh38: 2:169518329-169518329
25 KLHL41 NM_006063.3(KLHL41):c.751A>G (p.Lys251Glu) SNV Uncertain Significance
955693 rs777151398 GRCh37: 2:170367039-170367039
GRCh38: 2:169510529-169510529
26 KLHL41 NM_006063.3(KLHL41):c.778G>A (p.Ala260Thr) SNV Uncertain Significance
972417 rs766071573 GRCh37: 2:170367066-170367066
GRCh38: 2:169510556-169510556
27 KLHL41 NM_006063.3(KLHL41):c.193G>A (p.Glu65Lys) SNV Uncertain Significance
1034834 rs772174002 GRCh37: 2:170366481-170366481
GRCh38: 2:169509971-169509971
28 KLHL41 NM_006063.3(KLHL41):c.1711T>C (p.Tyr571His) SNV Uncertain Significance
1040900 rs758684130 GRCh37: 2:170382096-170382096
GRCh38: 2:169525586-169525586
29 KLHL41 NM_006063.3(KLHL41):c.1580A>G (p.Glu527Gly) SNV Uncertain Significance
1378645 GRCh37: 2:170377388-170377388
GRCh38: 2:169520878-169520878
30 KLHL41 NM_006063.3(KLHL41):c.391G>A (p.Ala131Thr) SNV Uncertain Significance
1400954 GRCh37: 2:170366679-170366679
GRCh38: 2:169510169-169510169
31 KLHL41 NM_006063.3(KLHL41):c.769G>C (p.Asp257His) SNV Uncertain Significance
1389908 GRCh37: 2:170367057-170367057
GRCh38: 2:169510547-169510547
32 KLHL41 NM_006063.3(KLHL41):c.1477C>T (p.His493Tyr) SNV Uncertain Significance
1369962 GRCh37: 2:170374800-170374800
GRCh38: 2:169518290-169518290
33 KLHL41 NM_006063.3(KLHL41):c.458C>A (p.Ser153Tyr) SNV Uncertain Significance
1371920 GRCh37: 2:170366746-170366746
GRCh38: 2:169510236-169510236
34 KLHL41 NM_006063.3(KLHL41):c.1147C>A (p.Pro383Thr) SNV Uncertain Significance
1425685 GRCh37: 2:170371120-170371120
GRCh38: 2:169514610-169514610
35 KLHL41 NM_006063.3(KLHL41):c.199G>C (p.Asp67His) SNV Uncertain Significance
1408193 GRCh37: 2:170366487-170366487
GRCh38: 2:169509977-169509977
36 KLHL41 NM_006063.3(KLHL41):c.14G>A (p.Arg5Gln) SNV Uncertain Significance
1415101 GRCh37: 2:170366302-170366302
GRCh38: 2:169509792-169509792
37 KLHL41 NM_006063.3(KLHL41):c.101A>G (p.Asp34Gly) SNV Uncertain Significance
1417397 GRCh37: 2:170366389-170366389
GRCh38: 2:169509879-169509879
38 KLHL41 NM_006063.3(KLHL41):c.229G>C (p.Asp77His) SNV Uncertain Significance
1464812 GRCh37: 2:170366517-170366517
GRCh38: 2:169510007-169510007
39 KLHL41 NM_006063.3(KLHL41):c.1363A>C (p.Lys455Gln) SNV Uncertain Significance
1465032 GRCh37: 2:170371458-170371458
GRCh38: 2:169514948-169514948
40 KLHL41 NM_006063.3(KLHL41):c.1202A>G (p.Tyr401Cys) SNV Uncertain Significance
1446892 GRCh37: 2:170371175-170371175
GRCh38: 2:169514665-169514665
41 KLHL41 NC_000002.11:g.(?_170366289)_(170382206_?)dup DUP Uncertain Significance
1450330 GRCh37: 2:170366289-170382206
GRCh38:
42 KLHL41 NM_006063.3(KLHL41):c.65G>C (p.Gly22Ala) SNV Uncertain Significance
1479763 GRCh37: 2:170366353-170366353
GRCh38: 2:169509843-169509843
43 KLHL41 NM_006063.3(KLHL41):c.661T>A (p.Cys221Ser) SNV Uncertain Significance
1472289 GRCh37: 2:170366949-170366949
GRCh38: 2:169510439-169510439
44 KLHL41 NM_006063.3(KLHL41):c.1464T>G (p.Phe488Leu) SNV Uncertain Significance
1451072 GRCh37: 2:170374787-170374787
GRCh38: 2:169518277-169518277
45 KLHL41 NM_006063.3(KLHL41):c.1183G>A (p.Glu395Lys) SNV Uncertain Significance
1522658 GRCh37: 2:170371156-170371156
GRCh38: 2:169514646-169514646
46 KLHL41 NM_006063.3(KLHL41):c.1709+20A>G SNV Uncertain Significance
1351045 GRCh37: 2:170377537-170377537
GRCh38: 2:169521027-169521027
47 KLHL41 NM_006063.3(KLHL41):c.1135G>A (p.Val379Ile) SNV Uncertain Significance
1525212 GRCh37: 2:170371108-170371108
GRCh38: 2:169514598-169514598
48 KLHL41 NM_006063.3(KLHL41):c.170_171delinsCT (p.Tyr57Ser) INDEL Uncertain Significance
934936 rs1684004022 GRCh37: 2:170366458-170366459
GRCh38: 2:169509948-169509949
49 KLHL41 NM_006063.3(KLHL41):c.1757G>A (p.Arg586His) SNV Uncertain Significance
934954 rs762482219 GRCh37: 2:170382142-170382142
GRCh38: 2:169525632-169525632
50 KLHL41 NM_006063.3(KLHL41):c.843T>G (p.Asp281Glu) SNV Uncertain Significance
935006 rs773869984 GRCh37: 2:170367131-170367131
GRCh38: 2:169510621-169510621

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 9.46 LMOD3 KLHL41
2 A band GO:0031672 9.13 LMOD3 KLHL40
3 Cul3-RING ubiquitin ligase complex GO:0031463 9.1 KLHL9 KLHL41 KLHL40

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

# Name GO ID Score Top Affiliating Genes
1 striated muscle contraction GO:0006941 9.46 LMOD3 KLHL41
2 myofibril assembly GO:0030239 9.26 LMOD3 KLHL41
3 skeletal muscle fiber development GO:0048741 9.1 LMOD3 KLHL41 KLHL40

Sources for Nemaline Myopathy 9

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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