Neutropenia, severe congenital, 1, autosomal dominant

General Information (adopted from Orphanet):

Synonyms, Signs: SCN1
Number of Symptoms 20
OrphanetNr:
OMIM Id: 202700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
27612320 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Comment:

The biological basis for the substantial difference in risk of leukemic evolution for CyN (Cyclic neutropenia) versus SCN (Neutropenia, severe congenital, 1) is not known (PMID:25427142). The typical morphological finding is a myeloid maturation arrest at the promyelocyte/myelocyte stage seen in conventional bone marrow smears. Heterozygous ELANE mutations are present in 80–100% of individuals with CyN and in 35–63% of SCN cases (PMID:21425445).

Symptom Information: Sort by abundance 

1
(HPO:0100806) Sepsis 21425445 IBIS 48 / 7739
2
(HPO:0002754) Osteomyelitis 21425445 IBIS 37 / 7739
3
(HPO:0005224) Rectal abscess 21425445 IBIS 10 / 7739
4
(HPO:0002840) Lymphadenitis 21425445 IBIS 7 / 7739
5
(HPO:0000388) Otitis media 21425445 IBIS 28 / 7739
6
(HPO:0005549) Congenital neutropenia 21425445 IBIS 6 / 7739
7
(HPO:0010974) Abnormality of myeloid leukocytes 21595885 IBIS 6 / 7739
8
(HPO:0002719) Recurrent infections 25427142 IBIS 107 / 7739
9
(HPO:0010280) Stomatitis Very frequent [IBIS] 21425445 IBIS 8 / 7739
10
(HPO:0000230) Gingivitis Very frequent [IBIS] 21425445 IBIS 31 / 7739
11
(HPO:0000704) Periodontitis Very frequent [IBIS] 21425445 IBIS 24 / 7739
12
(HPO:0040165) Periostitis 21425445 IBIS 2 / 7739
13
(HPO:0002090) Pneumonia Frequent [IBIS] 25427142 IBIS 59 / 7739
14
(HPO:0004808) Acute myeloid leukemia Occasional [IBIS] 25427142 IBIS 14 / 7739
15
(HPO:0001874) Abnormality of neutrophils 25427142 IBIS 47 / 7739
16
(HPO:0001880) Eosinophilia 21595885 IBIS 35 / 7739
17
(HPO:0010702) Increased antibody level in blood 21595885 IBIS 29 / 7739
18
(HPO:0012234) Agranulocytosis 26193632 IBIS 4 / 7739
19
(HPO:0012311) Monocytosis 21595885 IBIS 10 / 7739
20
(OMIM) Promyelocytic maturation arrest 23463630 IBIS 1 / 7739

Associated genes:

ELANE;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections ...
Clinical Description OMIM Gilman et al. (1970) described prolonged survival and death from acute monocytic leukemia at age 14 years and 10 months. About three-fourths of patients die before age 3 years. Fungal and viral infections had not been a problem. ...
Molecular genetics OMIM After demonstrating mutations in the ELA2 gene (ELANE; 130130) in patients with cyclic neutropenia (162800), Dale et al. (2000) hypothesized that congenital neutropenia is also due to mutation in this gene. They performed mutation analysis by sequencing PCR-amplified ...