Neutropenia, Severe Congenital, 9, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neutropenia, Severe Congenital, 9, Autosomal Dominant

MalaCards integrated aliases for Neutropenia, Severe Congenital, 9, Autosomal Dominant:

Name: Neutropenia, Severe Congenital, 9, Autosomal Dominant ⁵⁷ ²⁸ ⁵

Scn9 ⁵⁷ ⁷³

Neutropenia, Severe Congenital 9, Autosomal Dominant ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
de novo mutation
onset in the first months or years of life

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Infectious diseases
Anatomical: Blood diseases Neuronal diseases Respiratory diseases Bone diseases Immune diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 619813

OMIM Phenotypic Series ⁵⁷ PS202700

MeSH ⁴³ D009503

MedGen ⁴⁰ CN308094

SNOMED-CT via HPO ⁶⁹ 128306009 128613002 16294009 more

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Summaries for Neutropenia, Severe Congenital, 9, Autosomal Dominant

OMIM®: ⁵⁷ Autosomal dominant severe congenital neutropenia-9 (SCN9) is characterized by onset of neutropenia in the first years of life. Most patients have recurrent infections; bone marrow examination shows a myeloid maturation arrest. Rare patients may exhibit additional features such as seizures, learning difficulties, or cataracts, which are more commonly observed in patients with MGCA7 (616271). However, patients with SCN9 do not have 3-methylglutaconic aciduria, and most have normal neurologic function (Warren et al., 2022). For a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). (619813) (Updated 08-Dec-2022)

MalaCards based summary: Neutropenia, Severe Congenital, 9, Autosomal Dominant, is also known as scn9. An important gene associated with Neutropenia, Severe Congenital, 9, Autosomal Dominant is CLPB (Caseinolytic Mitochondrial Matrix Peptidase Chaperone Subunit B). Affiliated tissues include bone marrow, myeloid and neutrophil, and related phenotypes are seizure and cataract

UniProtKB/Swiss-Prot: ⁷³ A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. SCN9 is characterized by onset of neutropenia in the first years of life. Rare patients may exhibit additional features such as seizures, learning difficulties, or cataracts. Patients with SCN9 do not have 3- methylglutaconic aciduria.

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Related Diseases for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Diseases in the Neutropenia family:

Neutropenia, Chronic Familial	Neutropenia, Severe Congenital, 1, Autosomal Dominant
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia, Severe Congenital, 9, Autosomal Dominant
Severe Congenital Neutropenia	Severe Congenital Neutropenia 1
Severe Congenital Neutropenia 7	Autosomal Dominant Severe Congenital Neutropenia
Severe Congenital Neutropenia 2	Severe Congenital Neutropenia 5
Severe Congenital Neutropenia 3	Severe Congenital Neutropenia 6
Severe Congenital Neutropenia 8	Severe Congenital Neutropenia 4
Elane-Related Neutropenia	Acquired Neutropenia
Autosomal Recessive Severe Congenital Neutropenia

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Symptoms & Phenotypes for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Human phenotypes related to Neutropenia, Severe Congenital, 9, Autosomal Dominant:

³⁰

#	Description	HPO Frequency	HPO Source Accession
1	seizure ³⁰	Very rare (1%)	HP:0001250
2	cataract ³⁰	Very rare (1%)	HP:0000518
3	global developmental delay ³⁰	Very rare (1%)	HP:0001263
4	splenomegaly ³⁰	Very rare (1%)	HP:0001744
5	myeloid maturation arrest ³⁰	Very rare (1%)	HP:0410253

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Immunology:
neutropenia
recurrent infections
myeloid maturation arrest seen on bone marrow examination

Head And Neck Eyes:
cataracts (1 patient)

Head And Neck Ears:
otitis

Respiratory:
recurrent infections

Neurologic Central Nervous System:
developmental delay (rare)
epilepsy (rare)
learning difficulties (rare)

Neoplasia:
myeloid malignancy (in some patients)

Clinical features from OMIM®:

619813 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Search Clinical Trials, NIH Clinical Center for Neutropenia, Severe Congenital, 9, Autosomal Dominant

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Genetic Tests for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Genetic tests related to Neutropenia, Severe Congenital, 9, Autosomal Dominant:

#	Genetic test	Affiliating Genes
1	Neutropenia, Severe Congenital, 9, Autosomal Dominant ²⁸	CLPB

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Anatomical Context for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Organs/tissues related to Neutropenia, Severe Congenital, 9, Autosomal Dominant:

MalaCards : Bone Marrow, Myeloid, Neutrophil, Bone

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Publications for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Articles related to Neutropenia, Severe Congenital, 9, Autosomal Dominant:

#	Title	Authors	PMID	Year
1	Heterozygous variants of CLPB are a cause of severe congenital neutropenia. ⁵⁷ ⁵	Warren JT...Link DC	34115842	2022
2	Sodium voltage-gated channel alpha subunit 9 mutation in epilepsy. ⁶²	Albaradie R...Bashir S	34982449	2021
3	Association of small-fiber polyneuropathy with three previously unassociated rare missense SCN9A variants. ⁶²	Kelley MA...Oaklander AL	32719824	2020
4	Transcriptomic Profiling of Extracellular RNAs Present in Cerebrospinal Fluid Identifies Differentially Expressed Transcripts in Parkinson's Disease. ⁶²	Hossein-Nezhad A...Faghihi MA	26889637	2016

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Genes for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Genes related to Neutropenia, Severe Congenital, 9, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CLPB	Caseinolytic Mitochondrial Matrix Peptidase Chaperone Subunit B	Protein Coding	1000	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸	34115842

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Variations for Neutropenia, Severe Congenital, 9, Autosomal Dominant

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 9, Autosomal Dominant:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CLPB	NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)	SNV	Pathogenic	643064	rs1590753221	GRCh37: 11:72005457-72005457 GRCh38: 11:72294413-72294413
2	CLPB	NM_001258392.3(CLPB):c.1073C>A (p.Thr358Lys)	SNV	Pathogenic	1676583		GRCh37: 11:72018292-72018292 GRCh38: 11:72307248-72307248
3	CLPB	NM_001258392.3(CLPB):c.1591C>G (p.Arg531Gly)	SNV	Pathogenic	1676584		GRCh37: 11:72005458-72005458 GRCh38: 11:72294414-72294414
4	CLPB	NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys)	SNV	Pathogenic	1676586		GRCh37: 11:72005083-72005083 GRCh38: 11:72294039-72294039

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Expression for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Search GEO for disease gene expression data for Neutropenia, Severe Congenital, 9, Autosomal Dominant.

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Pathways for Neutropenia, Severe Congenital, 9, Autosomal Dominant

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GO Terms for Neutropenia, Severe Congenital, 9, Autosomal Dominant

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Sources for Neutropenia, Severe Congenital, 9, Autosomal Dominant

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

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¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

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¹⁵ DrugBank

¹⁶ EFO

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¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SCN9 MCID: NTR056 MIFTS: 23	Neutropenia, Severe Congenital, 9, Autosomal Dominant (SCN9) Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Neutropenia, Severe Congenital, 9, Autosomal Dominant (SCN9)

Aliases & Classifications for Neutropenia, Severe Congenital, 9, Autosomal Dominant

MalaCards integrated aliases for Neutropenia, Severe Congenital, 9, Autosomal Dominant:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Related Diseases for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Diseases in the Neutropenia family:

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Human phenotypes related to Neutropenia, Severe Congenital, 9, Autosomal Dominant:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Genetic Tests for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Genetic tests related to Neutropenia, Severe Congenital, 9, Autosomal Dominant:

Anatomical Context for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Organs/tissues related to Neutropenia, Severe Congenital, 9, Autosomal Dominant:

Publications for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Articles related to Neutropenia, Severe Congenital, 9, Autosomal Dominant:

Genes for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Genes related to Neutropenia, Severe Congenital, 9, Autosomal Dominant (1 elite genes):

Variations for Neutropenia, Severe Congenital, 9, Autosomal Dominant

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 9, Autosomal Dominant:

Expression for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Pathways for Neutropenia, Severe Congenital, 9, Autosomal Dominant

GO Terms for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Sources for Neutropenia, Severe Congenital, 9, Autosomal Dominant