NI-CINA
MCID: NTR013
MIFTS: 24

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 57 29 13 6 40
Ni-Cina 57 74
Dominant Nonimmune Chronic Idiopathic Neutropenia of Adults 74
Nonimmune Chronic Idiopathic Neutropenia of Adults 57
Neutropenia, Nonimmune Chronic Idiopathic, Adult 72
Adult Chronic Idiopathic Neutropenia 59
Adult Idiopathic Neutropenia 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
neutropenia, nonimmune chronic idiopathic, of adults:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 607847
ICD10 via Orphanet 34 D70
UMLS via Orphanet 73 C1842930
Orphanet 59 ORPHA2688
MedGen 42 C1842930
UMLS 72 C1842930

Summaries for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

OMIM : 57 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 bone, bone marrow and myeloid, and related phenotypes are neutropenia and helicobacter pylori infection

UniProtKB/Swiss-Prot : 74 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 12.0
2 neutropenia 10.5
3 leukemia, acute myeloid 10.1
4 myeloid leukemia 10.1

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

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

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neutropenia 59 32 obligate (100%) Obligate (100%) HP:0001875
2 helicobacter pylori infection 59 32 hallmark (90%) Very frequent (99-80%) HP:0005202
3 lymphopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001888
4 recurrent bacterial infections 59 32 frequent (33%) Frequent (79-30%) HP:0002718
5 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
6 recurrent aphthous stomatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0011107
7 bone marrow hypercellularity 59 32 occasional (7.5%) Occasional (29-5%) HP:0031020
8 granulocytic hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012139
9 monocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012312
10 acute myeloid leukemia 32 occasional (7.5%) HP:0004808
11 increased circulating igm level 32 occasional (7.5%) HP:0003496
12 recurrent fungal infections 59 32 very rare (1%) Very rare (<4-1%) HP:0002841
13 monocytosis 59 32 very rare (1%) Very rare (<4-1%) HP:0012311
14 recurrent infections 59 Frequent (79-30%)
15 abnormality of bone marrow cell morphology 59 Frequent (79-30%)
16 antineutrophil antibody positivity 59 Excluded (0%)
17 increased igm level 59 Occasional (29-5%)
18 abnormal neutrophil count 59 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

57
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 29 GFI1

Anatomical Context for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

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

41
Bone, Bone Marrow, Myeloid, Neutrophil, Monocytes

Publications for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

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

# Title Authors PMID 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. 38 8 71
11807637 2002
2
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. 8 71
12778173 2003
3
Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1. 8
11810106 2002
4
Anemia of chronic disease is the more frequent type of anemia seen in patients with chronic idiopathic neutropenia of adults. 38
11401084 2001
5
Increased frequency and specific reactivity of serum antinuclear antibodies in patients with nonimmune chronic idiopathic neutropenia of adults. 38
11340248 2001
6
Morphologically defined myeloid cell compartments, lymphocyte subpopulations, and histological findings of bone marrow in patients with nonimmune chronic idiopathic neutropenia of adults. 38
11100747 2000
7
Increased serum IgA and decreased IgG3 strongly correlate with increased serum TGF-beta1 levels in patients with nonimmune chronic idiopathic neutropenia of adults. 38
11073164 2000

Variations for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GFI1 NM_005263.5(GFI1): c.1208A> G (p.Lys403Arg) single nucleotide variant Pathogenic rs28936382 1:92941647-92941647 1:92476090-92476090

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

74
# Symbol AA change Variation ID SNP ID
1 GFI1 p.Lys403Arg VAR_016213 rs28936382

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
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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