Nemaline Myopathy 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: NML021 MIFTS: 20	Nemaline Myopathy 9 Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Nemaline Myopathy 9

MalaCards integrated aliases for Nemaline Myopathy 9:

Name: Nemaline Myopathy 9 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶ ⁷³

Nem9 ⁵⁷ ¹² ⁷⁵

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:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Muscle diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615731

Disease Ontology ¹² DOID:0110929

MedGen ⁴² C3810384 CN185876

MeSH ⁴⁴ D017696

SNOMED-CT via HPO ⁶⁹ 258211005 63567004 87979003 more

UMLS ⁷³ C3810384

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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 muscle weakness

UniProtKB/Swiss-Prot : ⁷⁵ 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.

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.

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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

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Symptoms & Phenotypes for Nemaline Myopathy 9

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

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	muscle weakness ³²		HP:0001324
3	respiratory insufficiency ³²	occasional (7.5%)	HP:0002093
4	scoliosis ³²	occasional (7.5%)	HP:0002650
5	cleft palate ³²	occasional (7.5%)	HP:0000175
6	micrognathia ³²	occasional (7.5%)	HP:0000347
7	narrow chest ³²	occasional (7.5%)	HP:0000774
8	arthrogryposis multiplex congenita ³²	occasional (7.5%)	HP:0002804
9	motor delay ³²		HP:0001270
10	breech presentation ³²	occasional (7.5%)	HP:0001623
11	fetal akinesia sequence ³²	occasional (7.5%)	HP:0001989

UMLS symptoms related to Nemaline Myopathy 9:

muscle weakness

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Drugs & Therapeutics for Nemaline Myopathy 9

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 9

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Genetic Tests for Nemaline Myopathy 9

Genetic tests related to Nemaline Myopathy 9:

#	Genetic test	Affiliating Genes
1	Nemaline Myopathy 9 ²⁹	KLHL41

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Anatomical Context for Nemaline Myopathy 9

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Publications for Nemaline Myopathy 9

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Genes for Nemaline Myopathy 9

Genes related to Nemaline Myopathy 9 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KLHL41	Kelch Like Family Member 41	Protein Coding	1353.97	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	24268659 20301465

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Variations for Nemaline Myopathy 9

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

⁷⁵

#	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 60)

#	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		GRCh38	Chromosome 2, 169510211: 169510213
26	KLHL41	NM_006063.2(KLHL41): c.433_435delCTT (p.Leu145del)	deletion	Uncertain significance		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.175C> T (p.Arg59Cys)	single nucleotide variant	Uncertain significance	rs547547946	GRCh37	Chromosome 2, 170366463: 170366463
30	KLHL41	NM_006063.2(KLHL41): c.175C> T (p.Arg59Cys)	single nucleotide variant	Uncertain significance	rs547547946	GRCh38	Chromosome 2, 169509953: 169509953
31	KLHL41	NM_006063.2(KLHL41): c.832G> A (p.Val278Met)	single nucleotide variant	Uncertain significance	rs150233736	GRCh37	Chromosome 2, 170367120: 170367120
32	KLHL41	NM_006063.2(KLHL41): c.832G> A (p.Val278Met)	single nucleotide variant	Uncertain significance	rs150233736	GRCh38	Chromosome 2, 169510610: 169510610
33	KLHL41	NM_006063.2(KLHL41): c.684A> C (p.Thr228=)	single nucleotide variant	Benign	rs141395388	GRCh37	Chromosome 2, 170366972: 170366972
34	KLHL41	NM_006063.2(KLHL41): c.684A> C (p.Thr228=)	single nucleotide variant	Benign	rs141395388	GRCh38	Chromosome 2, 169510462: 169510462
35	KLHL41	NM_006063.2(KLHL41): c.15G> A (p.Arg5=)	single nucleotide variant	Benign	rs144048872	GRCh37	Chromosome 2, 170366303: 170366303
36	KLHL41	NM_006063.2(KLHL41): c.15G> A (p.Arg5=)	single nucleotide variant	Benign	rs144048872	GRCh38	Chromosome 2, 169509793: 169509793
37	KLHL41	NM_006063.2(KLHL41): c.398G> A (p.Gly133Asp)	single nucleotide variant	Likely benign	rs147294651	GRCh37	Chromosome 2, 170366686: 170366686
38	KLHL41	NM_006063.2(KLHL41): c.398G> A (p.Gly133Asp)	single nucleotide variant	Likely benign	rs147294651	GRCh38	Chromosome 2, 169510176: 169510176
39	KLHL41	NM_006063.2(KLHL41): c.614G> A (p.Arg205Gln)	single nucleotide variant	Uncertain significance	rs576773055	GRCh37	Chromosome 2, 170366902: 170366902
40	KLHL41	NM_006063.2(KLHL41): c.614G> A (p.Arg205Gln)	single nucleotide variant	Uncertain significance	rs576773055	GRCh38	Chromosome 2, 169510392: 169510392
41	KLHL41	NM_006063.2(KLHL41): c.1569T> C (p.Asp523=)	single nucleotide variant	Likely benign	rs373954289	GRCh37	Chromosome 2, 170377377: 170377377
42	KLHL41	NM_006063.2(KLHL41): c.1569T> C (p.Asp523=)	single nucleotide variant	Likely benign	rs373954289	GRCh38	Chromosome 2, 169520867: 169520867
43	KLHL41	NM_006063.2(KLHL41): c.1620G> A (p.Leu540=)	single nucleotide variant	Likely benign		GRCh37	Chromosome 2, 170377428: 170377428
44	KLHL41	NM_006063.2(KLHL41): c.1620G> A (p.Leu540=)	single nucleotide variant	Likely benign		GRCh38	Chromosome 2, 169520918: 169520918
45	KLHL41	NM_006063.2(KLHL41): c.652G> A (p.Val218Met)	single nucleotide variant	Benign	rs147527225	GRCh37	Chromosome 2, 170366940: 170366940
46	KLHL41	NM_006063.2(KLHL41): c.652G> A (p.Val218Met)	single nucleotide variant	Benign	rs147527225	GRCh38	Chromosome 2, 169510430: 169510430
47	KLHL41	NM_006063.2(KLHL41): c.959C> A (p.Thr320Lys)	single nucleotide variant	Uncertain significance	rs781536513	GRCh37	Chromosome 2, 170367247: 170367247
48	KLHL41	NM_006063.2(KLHL41): c.959C> A (p.Thr320Lys)	single nucleotide variant	Uncertain significance	rs781536513	GRCh38	Chromosome 2, 169510737: 169510737
49	KLHL41	NM_006063.2(KLHL41): c.1186G> T (p.Val396Leu)	single nucleotide variant	Likely benign	rs147650614	GRCh37	Chromosome 2, 170371159: 170371159
50	KLHL41	NM_006063.2(KLHL41): c.519A> G (p.Gln173=)	single nucleotide variant	Benign	rs144844327	GRCh38	Chromosome 2, 169510297: 169510297

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Expression for Nemaline Myopathy 9

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

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Pathways for Nemaline Myopathy 9

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GO Terms for Nemaline Myopathy 9

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Sources for Nemaline Myopathy 9

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