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 56 29 13 6 39
Ni-Cina 56 73
Dominant Nonimmune Chronic Idiopathic Neutropenia of Adults 73
Nonimmune Chronic Idiopathic Neutropenia of Adults 56
Neutropenia, Nonimmune Chronic Idiopathic, Adult 71
Adult Chronic Idiopathic Neutropenia 58
Adult Idiopathic Neutropenia 58

Characteristics:

OMIM:

56
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: 58  
Rare immunological diseases


External Ids:

OMIM 56 607847
ICD10 via Orphanet 33 D70
UMLS via Orphanet 72 C1842930
Orphanet 58 ORPHA2688
MedGen 41 C1842930
UMLS 71 C1842930

Summaries for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

OMIM : 56 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 marrow, bone and myeloid, and related phenotypes are neutropenia and helicobacter pylori infection

UniProtKB/Swiss-Prot : 73 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:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neutropenia 58 31 obligate (100%) Obligate (100%) HP:0001875
2 helicobacter pylori infection 58 31 hallmark (90%) Very frequent (99-80%) HP:0005202
3 lymphopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001888
4 recurrent bacterial infections 58 31 frequent (33%) Frequent (79-30%) HP:0002718
5 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
6 recurrent aphthous stomatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011107
7 increased circulating igm level 58 31 occasional (7.5%) Occasional (29-5%) HP:0003496
8 monocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012312
9 bone marrow hypercellularity 58 31 occasional (7.5%) Occasional (29-5%) HP:0031020
10 granulocytic hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012139
11 acute myeloid leukemia 31 occasional (7.5%) HP:0004808
12 recurrent fungal infections 58 31 very rare (1%) Very rare (<4-1%) HP:0002841
13 monocytosis 58 31 very rare (1%) Very rare (<4-1%) HP:0012311
14 abnormality of bone marrow cell morphology 58 Frequent (79-30%)
15 recurrent infections 58 Frequent (79-30%)
16 abnormal neutrophil count 58 Excluded (0%)
17 antineutrophil antibody positivity 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
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:

40
Bone Marrow, Bone, Myeloid, Monocytes, Neutrophil

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. 6 56 61
11807637 2002
2
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. 56 6
12778173 2003
3
Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1. 56
11810106 2002
4
Anemia of chronic disease is the more frequent type of anemia seen in patients with chronic idiopathic neutropenia of adults. 61
11401084 2001
5
Increased frequency and specific reactivity of serum antinuclear antibodies in patients with nonimmune chronic idiopathic neutropenia of adults. 61
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. 61
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. 61
11073164 2000

Variations for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GFI1 NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg)SNV Likely benign 8740 rs28936382 1:92941647-92941647 1:92476090-92476090

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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