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:

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:



External Ids:

OMIM® 57 619813
OMIM Phenotypic Series 57 PS202700
MeSH 43 D009503
MedGen 40 CN308094

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.

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

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

30
# Description HPO Frequency Orphanet 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)

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

Search Clinical Trials, NIH Clinical Center 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:

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

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

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
34115842 2022
2
Sodium voltage-gated channel alpha subunit 9 mutation in epilepsy. 62
34982449 2021
3
Association of small-fiber polyneuropathy with three previously unassociated rare missense SCN9A variants. 62
32719824 2020
4
Transcriptomic Profiling of Extracellular RNAs Present in Cerebrospinal Fluid Identifies Differentially Expressed Transcripts in Parkinson's Disease. 62
26889637 2016

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

Expression for Neutropenia, Severe Congenital, 9, Autosomal Dominant

Search GEO for disease gene expression data 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

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
Content
Loading form....