NI-CINA
MCID: NTR013
MIFTS: 25

Neutropenia, Nonimmune Chronic Idiopathic, of Adults (NI-CINA)

Categories: Blood diseases, Cancer diseases, Genetic 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 58 30 13 6 41
Ni-Cina 58 76
Dominant Nonimmune Chronic Idiopathic Neutropenia of Adults 76
Nonimmune Chronic Idiopathic Neutropenia of Adults 58
Neutropenia, Nonimmune Chronic Idiopathic, Adult 74
Adult Chronic Idiopathic Neutropenia 60
Adult Idiopathic Neutropenia 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
neutropenia, nonimmune chronic idiopathic, of adults:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 607847
ICD10 via Orphanet 35 D70
UMLS via Orphanet 75 C1842930
Orphanet 60 ORPHA2688
MedGen 43 C1842930
UMLS 74 C1842930

Summaries for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

OMIM : 58 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. An important gene associated with Neutropenia, Nonimmune Chronic Idiopathic, of Adults is GFI1 (Growth Factor Independent 1 Transcriptional Repressor). Affiliated tissues include myeloid, monocytes and bone, and related phenotypes are acute myeloid leukemia and neutropenia

UniProtKB/Swiss-Prot : 76 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 11.9
2 neutropenia 10.5
3 leukemia, acute myeloid 10.1
4 leukemia 10.1
5 myeloid leukemia 10.1

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

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

33
# Description HPO Frequency HPO Source Accession
1 acute myeloid leukemia 33 occasional (7.5%) HP:0004808
2 neutropenia 33 HP:0001875

Symptoms via clinical synopsis from OMIM:

58
Immunology:
neutropenia
elevated monocytes

Clinical features from OMIM:

607847

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 30 GFI1

Anatomical Context for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

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

42
Myeloid, Monocytes, Bone, Bone Marrow

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 frequency and specific reactivity of serum antinuclear antibodies in patients with nonimmune chronic idiopathic neutropenia of adults. ( 11340248 )
2001
4
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
5
Morphologically defined myeloid cell compartments, lymphocyte subpopulations, and histological findings of bone marrow in patients with nonimmune chronic idiopathic neutropenia of adults. ( 11100747 )
2000

Variations for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

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

76
# 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
2 GFI1 NM_005263.3(GFI1): c.1208A> G (p.Lys403Arg) single nucleotide variant Pathogenic rs28936382 GRCh38 Chromosome 1, 92476090: 92476090

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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