MCID: NTR037
MIFTS: 22

Neutropenia, Severe Congenital 2, Autosomal Dominant

Categories: Genetic diseases, Blood diseases, Rare diseases, Bone diseases, Immune diseases, Nephrological diseases

Aliases & Classifications for Neutropenia, Severe Congenital 2, Autosomal Dominant

MalaCards integrated aliases for Neutropenia, Severe Congenital 2, Autosomal Dominant:

Name: Neutropenia, Severe Congenital 2, Autosomal Dominant 54 71 13
Severe Congenital Neutropenia, Autosomal Dominant, 2 24
Neutropenia, Severe Congenital, Autosomal Dominant 2 69
Severe Congenital Neutropenia 2, Autosomal Dominant 29
Scn2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
neutropenia, severe congenital 2, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613107
MedGen 40 C2751288
MeSH 42 D009503
SNOMED-CT via HPO 65 263681008 89655007 19636003

Summaries for Neutropenia, Severe Congenital 2, Autosomal Dominant

UniProtKB/Swiss-Prot : 71 Neutropenia, severe congenital 2, autosomal dominant: 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.

MalaCards based summary : Neutropenia, Severe Congenital 2, Autosomal Dominant, is also known as severe congenital neutropenia, autosomal dominant, 2, and has symptoms including monocytosis, b lymphocytopenia and congenital neutropenia. An important gene associated with Neutropenia, Severe Congenital 2, Autosomal Dominant is GFI1 (Growth Factor Independent 1 Transcriptional Repressor). Affiliated tissues include neutrophil and monocytes.

Description from OMIM: 613107

Related Diseases for Neutropenia, Severe Congenital 2, Autosomal Dominant

Symptoms & Phenotypes for Neutropenia, Severe Congenital 2, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

54

Immunology:
pyogenic abscesses during childhood (some patients)
reduced b lymphocytes
recurrent pneumonia during childhood (some patients)
reduced absolute cell number of cd4 t lymphocytes
immature monocytes
more

Clinical features from OMIM:

613107

Human phenotypes related to Neutropenia, Severe Congenital 2, Autosomal Dominant:

32
id Description HPO Frequency HPO Source Accession
1 monocytosis 32 HP:0012311
2 b lymphocytopenia 32 HP:0010976
3 congenital neutropenia 32 HP:0005549

Drugs & Therapeutics for Neutropenia, Severe Congenital 2, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Neutropenia, Severe Congenital 2, Autosomal Dominant

Genetic Tests for Neutropenia, Severe Congenital 2, Autosomal Dominant

Genetic tests related to Neutropenia, Severe Congenital 2, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Severe Congenital Neutropenia 2, Autosomal Dominant 29
2 Severe Congenital Neutropenia, Autosomal Dominant, 2 24 GFI1

Anatomical Context for Neutropenia, Severe Congenital 2, Autosomal Dominant

MalaCards organs/tissues related to Neutropenia, Severe Congenital 2, Autosomal Dominant:

39
Neutrophil, Monocytes

Publications for Neutropenia, Severe Congenital 2, Autosomal Dominant

Variations for Neutropenia, Severe Congenital 2, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital 2, Autosomal Dominant:

71
id Symbol AA change Variation ID SNP ID
1 GFI1 p.Asn382Ser VAR_016212 rs28936381

ClinVar genetic disease variations for Neutropenia, Severe Congenital 2, Autosomal Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GFI1 NM_005263.3(GFI1): c.1145A> G (p.Asn382Ser) single nucleotide variant Pathogenic rs28936381 GRCh37 Chromosome 1, 92941710: 92941710

Expression for Neutropenia, Severe Congenital 2, Autosomal Dominant

Search GEO for disease gene expression data for Neutropenia, Severe Congenital 2, Autosomal Dominant.

Pathways for Neutropenia, Severe Congenital 2, Autosomal Dominant

GO Terms for Neutropenia, Severe Congenital 2, Autosomal Dominant

Sources for Neutropenia, Severe Congenital 2, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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