NI-CINA
MCID: NTR013
MIFTS: 18

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

Categories: Genetic diseases, Blood diseases, Rare diseases

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

Aliases & Descriptions for Neutropenia, Nonimmune Chronic Idiopathic, of Adults:

Name: Neutropenia, Nonimmune Chronic Idiopathic, of Adults 54 13
Dominant Nonimmune Chronic Idiopathic Neutropenia of Adults 66
Nonimmune Chronic Idiopathic Neutropenia of Adults 29
Neutropenia, Nonimmune Chronic Idiopathic, Adult 69
Adult Idiopathic Neutropenia 56
Ni-Cina 66

Characteristics:

HPO:

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


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 607847
Orphanet 56 ORPHA2688
ICD10 via Orphanet 34 D70
MedGen 40 C1842930

Summaries for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

OMIM : 54 Nonimmune chronic idiopathic neutropenia of adults (NI-CINA) is a relatively mild form of neutropenia diagnosed in... (607847) more...

MalaCards based summary : Neutropenia, Nonimmune Chronic Idiopathic, of Adults, also known as dominant nonimmune chronic idiopathic neutropenia of adults, is related to idiopathic 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 myeloid.

UniProtKB/Swiss-Prot : 66 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:

id Related Disease Score Top Affiliating Genes
1 idiopathic neutropenia 11.3

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

Clinical features from OMIM:

607847

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

32
id Description HPO Frequency HPO Source Accession
1 acute myeloid leukemia 32 HP:0004808
2 neutropenia 32 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:

id Genetic test Affiliating Genes
1 Neutropenia, Nonimmune Chronic Idiopathic, of Adults 29
2 Nonimmune Chronic Idiopathic Neutropenia of Adults 24 GFI1

Anatomical Context for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

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

39
Myeloid

Publications for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

Variations for Neutropenia, Nonimmune Chronic Idiopathic, of Adults

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

66
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....