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 57 29 13 6 40
Ni-Cina 57 75
Dominant Nonimmune Chronic Idiopathic Neutropenia of Adults 75
Nonimmune Chronic Idiopathic Neutropenia of Adults 57
Neutropenia, Nonimmune Chronic Idiopathic, Adult 73
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
Orphanet 59 ORPHA2688
ICD10 via Orphanet 34 D70
UMLS via Orphanet 74 C1842930
MedGen 42 C1842930
UMLS 73 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 myeloid and monocytes, and related phenotypes are neutropenia and acute myeloid leukemia

UniProtKB/Swiss-Prot : 75 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:

57
Immunology:
neutropenia
elevated monocytes


Clinical features from OMIM:

607847

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

32
# Description HPO Frequency HPO Source Accession
1 neutropenia 32 HP:0001875
2 acute myeloid leukemia 32 occasional (7.5%) HP:0004808

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
Myeloid, Monocytes

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:

75
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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