NEM9
MCID: NML021
MIFTS: 23

Nemaline Myopathy 9 (NEM9)

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

Aliases & Classifications for Nemaline Myopathy 9

MalaCards integrated aliases for Nemaline Myopathy 9:

Name: Nemaline Myopathy 9 57 12 74 29 6 72
Nem9 57 12 74
Myopathy, Nemaline, Type 9 40

Characteristics:

OMIM:

57
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:

32
nemaline myopathy 9:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0110929
MeSH 44 D017696
UMLS 72 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)

MalaCards based summary : Nemaline Myopathy 9, is also known as nem9, and has symptoms including muscle weakness An important gene associated with Nemaline Myopathy 9 is KLHL41 (Kelch Like Family Member 41). Related phenotypes are high palate and respiratory insufficiency

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 : 74 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

Symptoms & Phenotypes for Nemaline Myopathy 9

Human phenotypes related to Nemaline Myopathy 9:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 high palate 32 occasional (7.5%) HP:0000218
2 respiratory insufficiency 32 occasional (7.5%) HP:0002093
3 scoliosis 32 occasional (7.5%) HP:0002650
4 cleft palate 32 occasional (7.5%) HP:0000175
5 micrognathia 32 occasional (7.5%) HP:0000347
6 narrow chest 32 occasional (7.5%) HP:0000774
7 arthrogryposis multiplex congenita 32 occasional (7.5%) HP:0002804
8 fetal akinesia sequence 32 occasional (7.5%) HP:0001989
9 breech presentation 32 occasional (7.5%) HP:0001623
10 muscle weakness 32 HP:0001324
11 motor delay 32 HP:0001270

Symptoms via clinical synopsis from OMIM:

57
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

UMLS symptoms related to Nemaline Myopathy 9:


muscle weakness

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. 8 71
24268659 2013
2
Nemaline Myopathy 71
20301465 2002

Variations for Nemaline Myopathy 9

ClinVar genetic disease variations for Nemaline Myopathy 9:

6 (show all 40)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KLHL41 NM_006063.3(KLHL41): c.575_577AAG[2] (p.Glu194del) short repeat Pathogenic rs730882259 2:170366869-170366871 2:169510359-169510361
2 KLHL41 NM_006063.3(KLHL41): c.1238C> T (p.Ser413Leu) single nucleotide variant Pathogenic rs730882260 2:170371211-170371211 2:169514701-169514701
3 KLHL41 NM_006063.3(KLHL41): c.459delinsACTC (p.Ala154_Arg155insLeu) indel Pathogenic rs730882257 2:170366747-170366747 2:169510237-169510237
4 KLHL41 NM_006063.3(KLHL41): c.1748_1755del (p.Lys583fs) deletion Pathogenic rs730882258 2:170382133-170382140 2:169525623-169525630
5 KLHL41 NM_006063.3(KLHL41): c.215dup (p.Glu73fs) duplication Pathogenic 2:170366503-170366503 2:169509993-169509993
6 KLHL41 NM_006063.3(KLHL41): c.168_175del (p.Pro56_Tyr57insTer) deletion Pathogenic 2:170366456-170366463 2:169509946-169509953
7 KLHL41 NM_006063.3(KLHL41): c.930_939del (p.Asn310fs) deletion Pathogenic 2:170367217-170367226 2:169510708-169510717
8 KLHL41 NM_006063.3(KLHL41): c.1296del (p.Lys432fs) deletion Pathogenic 2:170371391-170371391 2:169514881-169514881
9 KLHL41 NM_006063.3(KLHL41): c.641del (p.Asn214fs) deletion Pathogenic/Likely pathogenic rs730882235 2:170366929-170366929 2:169510419-169510419
10 KLHL41 NM_006063.3(KLHL41): c.1421A> G (p.Asp474Gly) single nucleotide variant Uncertain significance 2:170374744-170374744 2:169518234-169518234
11 KLHL41 NM_006063.3(KLHL41): c.1457C> T (p.Ser486Phe) single nucleotide variant Uncertain significance 2:170374780-170374780 2:169518270-169518270
12 KLHL41 NM_006063.3(KLHL41): c.1081G> C (p.Asp361His) single nucleotide variant Uncertain significance 2:170367369-170367369 2:169510859-169510859
13 KLHL41 NM_006063.3(KLHL41): c.1192G> T (p.Asp398Tyr) single nucleotide variant Uncertain significance 2:170371165-170371165 2:169514655-169514655
14 KLHL41 NM_006063.3(KLHL41): c.437A> C (p.Asp146Ala) single nucleotide variant Uncertain significance 2:170366725-170366725 2:169510215-169510215
15 KLHL41 NM_006063.3(KLHL41): c.443C> T (p.Pro148Leu) single nucleotide variant Uncertain significance 2:170366731-170366731 2:169510221-169510221
16 KLHL41 NM_006063.3(KLHL41): c.427_429CTT[2] (p.Leu145del) short repeat Uncertain significance rs760524187 2:170366721-170366723 2:169510211-169510213
17 KLHL41 NM_006063.3(KLHL41): c.1276A> G (p.Lys426Glu) single nucleotide variant Uncertain significance rs750512280 2:170371371-170371371 2:169514861-169514861
18 KLHL41 NM_006063.3(KLHL41): c.175C> T (p.Arg59Cys) single nucleotide variant Uncertain significance rs547547946 2:170366463-170366463 2:169509953-169509953
19 KLHL41 NM_006063.3(KLHL41): c.959C> A (p.Thr320Lys) single nucleotide variant Uncertain significance rs781536513 2:170367247-170367247 2:169510737-169510737
20 KLHL41 NM_006063.3(KLHL41): c.832G> A (p.Val278Met) single nucleotide variant Uncertain significance rs150233736 2:170367120-170367120 2:169510610-169510610
21 KLHL41 NM_006063.3(KLHL41): c.614G> A (p.Arg205Gln) single nucleotide variant Uncertain significance rs576773055 2:170366902-170366902 2:169510392-169510392
22 KLHL41 NM_006063.3(KLHL41): c.1562A> G (p.Lys521Arg) single nucleotide variant Uncertain significance rs778003504 2:170374885-170374885 2:169518375-169518375
23 KLHL41 NM_006063.3(KLHL41): c.1696A> G (p.Asn566Asp) single nucleotide variant Uncertain significance rs1237694295 2:170377504-170377504 2:169520994-169520994
24 KLHL41 NM_006063.3(KLHL41): c.840T> A (p.Gly280=) single nucleotide variant Likely benign rs755378546 2:170367128-170367128 2:169510618-169510618
25 KLHL41 NM_006063.3(KLHL41): c.913C> T (p.Leu305Phe) single nucleotide variant Likely benign rs149971244 2:170367201-170367201 2:169510691-169510691
26 KLHL41 NM_006063.3(KLHL41): c.1569T> C (p.Asp523=) single nucleotide variant Likely benign rs373954289 2:170377377-170377377 2:169520867-169520867
27 KLHL41 NM_006063.3(KLHL41): c.1620G> A (p.Leu540=) single nucleotide variant Likely benign rs1157611870 2:170377428-170377428 2:169520918-169520918
28 KLHL41 NM_006063.3(KLHL41): c.1186G> T (p.Val396Leu) single nucleotide variant Likely benign rs147650614 2:170371159-170371159 2:169514649-169514649
29 KLHL41 NM_006063.3(KLHL41): c.197T> C (p.Ile66Thr) single nucleotide variant Likely benign rs116809051 2:170366485-170366485 2:169509975-169509975
30 KLHL41 NM_006063.3(KLHL41): c.291T> C (p.Asp97=) single nucleotide variant Likely benign rs537913427 2:170366579-170366579 2:169510069-169510069
31 KLHL41 NM_006063.3(KLHL41): c.398G> A (p.Gly133Asp) single nucleotide variant Likely benign rs147294651 2:170366686-170366686 2:169510176-169510176
32 KLHL41 NM_006063.3(KLHL41): c.1441A> G (p.Met481Val) single nucleotide variant Benign/Likely benign rs34623017 2:170374764-170374764 2:169518254-169518254
33 KLHL41 NM_006063.3(KLHL41): c.1737T> C (p.Ala579=) single nucleotide variant Benign rs76875207 2:170382122-170382122 2:169525612-169525612
34 KLHL41 NM_006063.3(KLHL41): c.8C> T (p.Ser3Phe) single nucleotide variant Benign rs28730867 2:170366296-170366296 2:169509786-169509786
35 KLHL41 NM_006063.3(KLHL41): c.863T> G (p.Leu288Arg) single nucleotide variant Benign rs139415849 2:170367151-170367151 2:169510641-169510641
36 KLHL41 NM_006063.3(KLHL41): c.1251A> G (p.Val417=) single nucleotide variant Benign rs79580851 2:170371224-170371224 2:169514714-169514714
37 KLHL41 NM_006063.3(KLHL41): c.684A> C (p.Thr228=) single nucleotide variant Benign rs141395388 2:170366972-170366972 2:169510462-169510462
38 KLHL41 NM_006063.3(KLHL41): c.15G> A (p.Arg5=) single nucleotide variant Benign rs144048872 2:170366303-170366303 2:169509793-169509793
39 KLHL41 NM_006063.3(KLHL41): c.519A> G (p.Gln173=) single nucleotide variant Benign rs144844327 2:170366807-170366807 2:169510297-169510297
40 KLHL41 NM_006063.3(KLHL41): c.652G> A (p.Val218Met) single nucleotide variant Benign rs147527225 2:170366940-170366940 2:169510430-169510430

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

74
# 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

Sources for Nemaline Myopathy 9

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