NEM9
MCID: NML021
MIFTS: 21

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 58 12 76 30 6 74
Nem9 58 12 76
Myopathy, Nemaline, Type 9 41

Characteristics:

OMIM:

58
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:

33
nemaline myopathy 9:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nemaline Myopathy 9

OMIM : 58 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). Affiliated tissues include bone, and 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 : 76 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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 high palate 33 occasional (7.5%) HP:0000218
2 respiratory insufficiency 33 occasional (7.5%) HP:0002093
3 scoliosis 33 occasional (7.5%) HP:0002650
4 cleft palate 33 occasional (7.5%) HP:0000175
5 micrognathia 33 occasional (7.5%) HP:0000347
6 narrow chest 33 occasional (7.5%) HP:0000774
7 arthrogryposis multiplex congenita 33 occasional (7.5%) HP:0002804
8 fetal akinesia sequence 33 occasional (7.5%) HP:0001989
9 breech presentation 33 occasional (7.5%) HP:0001623
10 muscle weakness 33 HP:0001324
11 motor delay 33 HP:0001270

Symptoms via clinical synopsis from OMIM:

58
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 30 KLHL41

Anatomical Context for Nemaline Myopathy 9

MalaCards organs/tissues related to Nemaline Myopathy 9:

42
Bone

Publications for Nemaline Myopathy 9

Articles related to Nemaline Myopathy 9:

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

Variations for Nemaline Myopathy 9

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

76
# Symbol AA change Variation ID SNP ID
1 KLHL41 p.Ser413Leu VAR_071824 rs730882260

ClinVar genetic disease variations for Nemaline Myopathy 9:

6 (show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 KLHL41 NM_006063.2(KLHL41): c.459delTinsACTC (p.Ser153_Ala154insLeu) indel Pathogenic rs730882257 GRCh37 Chromosome 2, 170366747: 170366747
2 KLHL41 NM_006063.2(KLHL41): c.459delTinsACTC (p.Ser153_Ala154insLeu) indel Pathogenic rs730882257 GRCh38 Chromosome 2, 169510237: 169510237
3 KLHL41 NM_006063.2(KLHL41): c.1748_1755delAGGAAATA (p.Lys583Thrfs) deletion Pathogenic rs730882258 GRCh37 Chromosome 2, 170382133: 170382140
4 KLHL41 NM_006063.2(KLHL41): c.1748_1755delAGGAAATA (p.Lys583Thrfs) deletion Pathogenic rs730882258 GRCh38 Chromosome 2, 169525623: 169525630
5 KLHL41 NM_006063.2(KLHL41): c.641delA (p.Asn214Thrfs) deletion Pathogenic/Likely pathogenic rs730882235 GRCh37 Chromosome 2, 170366929: 170366929
6 KLHL41 NM_006063.2(KLHL41): c.641delA (p.Asn214Thrfs) deletion Pathogenic/Likely pathogenic rs730882235 GRCh38 Chromosome 2, 169510419: 169510419
7 KLHL41 NM_006063.2(KLHL41): c.581_583delAAG (p.Glu194del) deletion Pathogenic rs730882259 GRCh37 Chromosome 2, 170366869: 170366871
8 KLHL41 NM_006063.2(KLHL41): c.581_583delAAG (p.Glu194del) deletion Pathogenic rs730882259 GRCh38 Chromosome 2, 169510359: 169510361
9 KLHL41 NM_006063.2(KLHL41): c.1238C> T (p.Ser413Leu) single nucleotide variant Pathogenic rs730882260 GRCh37 Chromosome 2, 170371211: 170371211
10 KLHL41 NM_006063.2(KLHL41): c.1238C> T (p.Ser413Leu) single nucleotide variant Pathogenic rs730882260 GRCh38 Chromosome 2, 169514701: 169514701
11 KLHL41 NM_006063.2(KLHL41): c.8C> T (p.Ser3Phe) single nucleotide variant Benign rs28730867 GRCh37 Chromosome 2, 170366296: 170366296
12 KLHL41 NM_006063.2(KLHL41): c.8C> T (p.Ser3Phe) single nucleotide variant Benign rs28730867 GRCh38 Chromosome 2, 169509786: 169509786
13 KLHL41 NM_006063.2(KLHL41): c.863T> G (p.Leu288Arg) single nucleotide variant Benign rs139415849 GRCh37 Chromosome 2, 170367151: 170367151
14 KLHL41 NM_006063.2(KLHL41): c.863T> G (p.Leu288Arg) single nucleotide variant Benign rs139415849 GRCh38 Chromosome 2, 169510641: 169510641
15 KLHL41 NM_006063.2(KLHL41): c.1251A> G (p.Val417=) single nucleotide variant Benign rs79580851 GRCh37 Chromosome 2, 170371224: 170371224
16 KLHL41 NM_006063.2(KLHL41): c.1251A> G (p.Val417=) single nucleotide variant Benign rs79580851 GRCh38 Chromosome 2, 169514714: 169514714
17 KLHL41 NM_006063.2(KLHL41): c.1441A> G (p.Met481Val) single nucleotide variant Benign/Likely benign rs34623017 GRCh37 Chromosome 2, 170374764: 170374764
18 KLHL41 NM_006063.2(KLHL41): c.1441A> G (p.Met481Val) single nucleotide variant Benign/Likely benign rs34623017 GRCh38 Chromosome 2, 169518254: 169518254
19 KLHL41 NM_006063.2(KLHL41): c.1737T> C (p.Ala579=) single nucleotide variant Benign rs76875207 GRCh37 Chromosome 2, 170382122: 170382122
20 KLHL41 NM_006063.2(KLHL41): c.1737T> C (p.Ala579=) single nucleotide variant Benign rs76875207 GRCh38 Chromosome 2, 169525612: 169525612
21 KLHL41 NM_006063.2(KLHL41): c.197T> C (p.Ile66Thr) single nucleotide variant Likely benign rs116809051 GRCh38 Chromosome 2, 169509975: 169509975
22 KLHL41 NM_006063.2(KLHL41): c.197T> C (p.Ile66Thr) single nucleotide variant Likely benign rs116809051 GRCh37 Chromosome 2, 170366485: 170366485
23 KLHL41 NM_006063.2(KLHL41): c.291T> C (p.Asp97=) single nucleotide variant Likely benign rs537913427 GRCh38 Chromosome 2, 169510069: 169510069
24 KLHL41 NM_006063.2(KLHL41): c.291T> C (p.Asp97=) single nucleotide variant Likely benign rs537913427 GRCh37 Chromosome 2, 170366579: 170366579
25 KLHL41 NM_006063.2(KLHL41): c.433_435delCTT (p.Leu145del) deletion Uncertain significance rs760524187 GRCh38 Chromosome 2, 169510211: 169510213
26 KLHL41 NM_006063.2(KLHL41): c.433_435delCTT (p.Leu145del) deletion Uncertain significance rs760524187 GRCh37 Chromosome 2, 170366721: 170366723
27 KLHL41 NM_006063.2(KLHL41): c.1276A> G (p.Lys426Glu) single nucleotide variant Uncertain significance rs750512280 GRCh38 Chromosome 2, 169514861: 169514861
28 KLHL41 NM_006063.2(KLHL41): c.1276A> G (p.Lys426Glu) single nucleotide variant Uncertain significance rs750512280 GRCh37 Chromosome 2, 170371371: 170371371
29 KLHL41 NM_006063.2(KLHL41): c.959C> A (p.Thr320Lys) single nucleotide variant Uncertain significance rs781536513 GRCh38 Chromosome 2, 169510737: 169510737
30 KLHL41 NM_006063.2(KLHL41): c.175C> T (p.Arg59Cys) single nucleotide variant Uncertain significance rs547547946 GRCh37 Chromosome 2, 170366463: 170366463
31 KLHL41 NM_006063.2(KLHL41): c.175C> T (p.Arg59Cys) single nucleotide variant Uncertain significance rs547547946 GRCh38 Chromosome 2, 169509953: 169509953
32 KLHL41 NM_006063.2(KLHL41): c.832G> A (p.Val278Met) single nucleotide variant Uncertain significance rs150233736 GRCh37 Chromosome 2, 170367120: 170367120
33 KLHL41 NM_006063.2(KLHL41): c.832G> A (p.Val278Met) single nucleotide variant Uncertain significance rs150233736 GRCh38 Chromosome 2, 169510610: 169510610
34 KLHL41 NM_006063.2(KLHL41): c.15G> A (p.Arg5=) single nucleotide variant Benign rs144048872 GRCh37 Chromosome 2, 170366303: 170366303
35 KLHL41 NM_006063.2(KLHL41): c.15G> A (p.Arg5=) single nucleotide variant Benign rs144048872 GRCh38 Chromosome 2, 169509793: 169509793
36 KLHL41 NM_006063.2(KLHL41): c.398G> A (p.Gly133Asp) single nucleotide variant Likely benign rs147294651 GRCh37 Chromosome 2, 170366686: 170366686
37 KLHL41 NM_006063.2(KLHL41): c.398G> A (p.Gly133Asp) single nucleotide variant Likely benign rs147294651 GRCh38 Chromosome 2, 169510176: 169510176
38 KLHL41 NM_006063.2(KLHL41): c.614G> A (p.Arg205Gln) single nucleotide variant Uncertain significance rs576773055 GRCh37 Chromosome 2, 170366902: 170366902
39 KLHL41 NM_006063.2(KLHL41): c.614G> A (p.Arg205Gln) single nucleotide variant Uncertain significance rs576773055 GRCh38 Chromosome 2, 169510392: 169510392
40 KLHL41 NM_006063.2(KLHL41): c.684A> C (p.Thr228=) single nucleotide variant Benign rs141395388 GRCh37 Chromosome 2, 170366972: 170366972
41 KLHL41 NM_006063.2(KLHL41): c.684A> C (p.Thr228=) single nucleotide variant Benign rs141395388 GRCh38 Chromosome 2, 169510462: 169510462
42 KLHL41 NM_006063.2(KLHL41): c.1569T> C (p.Asp523=) single nucleotide variant Likely benign rs373954289 GRCh37 Chromosome 2, 170377377: 170377377
43 KLHL41 NM_006063.2(KLHL41): c.1569T> C (p.Asp523=) single nucleotide variant Likely benign rs373954289 GRCh38 Chromosome 2, 169520867: 169520867
44 KLHL41 NM_006063.2(KLHL41): c.1620G> A (p.Leu540=) single nucleotide variant Likely benign rs1157611870 GRCh37 Chromosome 2, 170377428: 170377428
45 KLHL41 NM_006063.2(KLHL41): c.1620G> A (p.Leu540=) single nucleotide variant Likely benign rs1157611870 GRCh38 Chromosome 2, 169520918: 169520918
46 KLHL41 NM_006063.2(KLHL41): c.652G> A (p.Val218Met) single nucleotide variant Benign rs147527225 GRCh37 Chromosome 2, 170366940: 170366940
47 KLHL41 NM_006063.2(KLHL41): c.652G> A (p.Val218Met) single nucleotide variant Benign rs147527225 GRCh38 Chromosome 2, 169510430: 169510430
48 KLHL41 NM_006063.2(KLHL41): c.959C> A (p.Thr320Lys) single nucleotide variant Uncertain significance rs781536513 GRCh37 Chromosome 2, 170367247: 170367247
49 KLHL41 NM_006063.2(KLHL41): c.519A> G (p.Gln173=) single nucleotide variant Benign rs144844327 GRCh37 Chromosome 2, 170366807: 170366807
50 KLHL41 NM_006063.2(KLHL41): c.1186G> T (p.Val396Leu) single nucleotide variant Likely benign rs147650614 GRCh38 Chromosome 2, 169514649: 169514649

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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