Adult idiopathic neutropenia

General Information (adopted from Orphanet):

Synonyms, Signs: NONIMMUNE CHRONIC IDIOPATHIC NEUTROPENIA OF ADULTS
NI-CINA
Number of Symptoms 3
OrphanetNr: 2688
OMIM Id: 607847
ICD-10: D70
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Acquired neutropenia
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0004808) Acute myeloid leukemia Occasional [HPO:probinson] 14 / 7739
2
(HPO:0001875) Neutropenia 83 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Molecular genetics OMIM Based on the observation that mice deficient in Gfi1 are neutropenic (Karsunky et al., 2002), Person et al. (2003) screened 105 unrelated neutropenic probands without mutations in ELA2 (130130), 49 individuals with severe congenital neutropenia (SCN; 202700), and ...