MCID: NTR013
MIFTS: 23

Neutropenia, Nonimmune Chronic Idiopathic, of Adults

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

MalaCards integrated aliases for Neutropenia, Nonimmune Chronic Idiopathic, of Adults:

Name: Neutropenia, Nonimmune Chronic Idiopathic, of Adults 53 28 13
Ni-Cina 53 71
Dominant Nonimmune Chronic Idiopathic Neutropenia of Adults 71
Nonimmune Chronic Idiopathic Neutropenia of Adults 53
Neutropenia, Nonimmune Chronic Idiopathic, Adult 69
Adult Idiopathic Neutropenia 55

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
no known history of infectious complications
one patient has been reported


HPO:

31
neutropenia, nonimmune chronic idiopathic, of adults:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare immunological diseases


External Ids:

OMIM 53 607847
Orphanet 55 ORPHA2688
UMLS via Orphanet 70 C1842930
ICD10 via Orphanet 33 D70
MedGen 39 C1842930
UMLS 69 C1842930

Summaries for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

OMIM : 53 Nonimmune chronic idiopathic neutropenia of adults (NI-CINA) is a relatively mild form of neutropenia diagnosed in adults but predisposing to leukemia in a subset of patients (Papadaki et al., 2002). (607847)

MalaCards based summary : Neutropenia, Nonimmune Chronic Idiopathic, of Adults, also known as ni-cina, is related to idiopathic neutropenia and neutropenia, and has symptoms including acute myeloid leukemia and neutropenia. An important gene associated with Neutropenia, Nonimmune Chronic Idiopathic, of Adults is GFI1 (Growth Factor Independent 1 Transcriptional Repressor). Affiliated tissues include monocytes and myeloid.

UniProtKB/Swiss-Prot : 71 Dominant nonimmune chronic idiopathic neutropenia of adults: Relatively mild form of neutropenia diagnosed in adults, but predisposing to leukemia in a subset of patients.

Related Diseases for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

Diseases related to Neutropenia, Nonimmune Chronic Idiopathic, of Adults via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 idiopathic neutropenia 11.7
2 neutropenia 10.2
3 leukemia, acute myeloid 10.0
4 leukemia 10.0
5 myeloid leukemia 10.0

Graphical network of the top 20 diseases related to Neutropenia, Nonimmune Chronic Idiopathic, of Adults:



Diseases related to Neutropenia, Nonimmune Chronic Idiopathic, of Adults

Symptoms & Phenotypes for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

Symptoms via clinical synopsis from OMIM:

53
Immunology:
neutropenia
elevated monocytes


Clinical features from OMIM:

607847

Human phenotypes related to Neutropenia, Nonimmune Chronic Idiopathic, of Adults:

31
# Description HPO Frequency HPO Source Accession
1 acute myeloid leukemia 31 occasional (7.5%) HP:0004808
2 neutropenia 31 HP:0001875

Drugs & Therapeutics for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

Search Clinical Trials , NIH Clinical Center for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

Genetic Tests for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

Genetic tests related to Neutropenia, Nonimmune Chronic Idiopathic, of Adults:

# Genetic test Affiliating Genes
1 Neutropenia, Nonimmune Chronic Idiopathic, of Adults 28 GFI1

Anatomical Context for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

MalaCards organs/tissues related to Neutropenia, Nonimmune Chronic Idiopathic, of Adults:

38
Monocytes, Myeloid

Publications for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

Articles related to Neutropenia, Nonimmune Chronic Idiopathic, of Adults:

# Title Authors Year
1
Two patients with nonimmune chronic idiopathic neutropenia of adults developing acute myeloid leukemia with aberrant phenotype and complex karyotype but no mutations in granulocyte colony-stimulating factor receptor. ( 11807637 )
2002
2
Increased frequency of HLA-DRB1*1302 haplotype in patients with nonimmune chronic idiopathic neutropenia of adults. ( 11202431 )
2001
3
Increased serum IgA and decreased IgG3 strongly correlate with increased serum TGF-beta1 levels in patients with nonimmune chronic idiopathic neutropenia of adults. ( 11073164 )
2000

Variations for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Nonimmune Chronic Idiopathic, of Adults:

71
# Symbol AA change Variation ID SNP ID
1 GFI1 p.Lys403Arg VAR_016213 rs28936382

ClinVar genetic disease variations for Neutropenia, Nonimmune Chronic Idiopathic, of Adults:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GFI1 NM_005263.3(GFI1): c.1208A> G (p.Lys403Arg) single nucleotide variant Pathogenic rs28936382 GRCh37 Chromosome 1, 92941647: 92941647

Expression for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

Search GEO for disease gene expression data for Neutropenia, Nonimmune Chronic Idiopathic, of Adults.

Pathways for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

GO Terms for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

Sources for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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