Autosomal dominant severe congenital neutropenia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr: 486
OMIM Id: 202700
257100
612541
613107
ICD-10: D70
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Severe congenital neutropenia
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0001507) Growth abnormality 36 / 7739
2
 (HPO:0005541) Congenital agranulocytosis 2 / 7739
3
 (HPO:0012311) Monocytosis 10 / 7739
4
 (HPO:0001880) Eosinophilia 35 / 7739
5
 (HPO:0001903) Anemia 289 / 7739
6
 (HPO:0001894) Thrombocytosis 16 / 7739
7
 (HPO:0010702) Increased antibody level in blood 29 / 7739
8
 (HPO:0004845) Acute monocytic leukemia 5 / 7739
9
 (HPO:0001875) Neutropenia 83 / 7739
10
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: