Recurrent infections-myelofibrosis-nephromegaly syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SCN5
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
Recurrent infections-bone marrow fibrosis-nephromegaly syndrome
Number of Symptoms 18
OrphanetNr: 369852
OMIM Id: 615285
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Constitutional neutropenia with extra-haematopoietic manifestations
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
2
 (HPO:0001744) Splenomegaly 337 / 7739
3
 (HPO:0002240) Hepatomegaly 467 / 7739
4
 (HPO:0001508) Failure to thrive 454 / 7739
5
 (HPO:0001978) Extramedullary hematopoiesis 6 / 7739
6
 (HPO:0001882) Leukopenia 51 / 7739
7
 (HPO:0010702) Increased antibody level in blood 29 / 7739
8
 (HPO:0001903) Anemia 289 / 7739
9
 (HPO:0001875) Neutropenia 83 / 7739
10
 (HPO:0001873) Thrombocytopenia 224 / 7739
11
 (OMIM) Bone marrow fibrosis 1 / 7739
12
 (OMIM) Nucleated red cells in peripheral blood 1 / 7739
13
 (OMIM) Neutrophil dysfunction 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Recurrent infections, bacterial and fungal 1 / 7739
16
 (HPO:0003593) Infantile onset 249 / 7739
17
 (OMIM) Enlarged kidneys due to extramedullary hematopoiesis 1 / 7739
18
 (OMIM) Bone marrow shows abnormal development of neutrophils 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis (summary by Vilboux et al., 2013). ...
Clinical Description OMIM Vilboux et al. (2013) reported 5 consanguineous families, 4 of Palestinian and 1 of Moroccan origin, in which 7 children had severe congenital neutropenia. All the children presented in infancy with poor weight gain, hepatomegaly, splenomegaly, and severe ...
Molecular genetics OMIM In affected children from 4 consanguineous Palestinian families with severe congenital neutropenia-5, Vilboux et al. (2013) identified a homozygous mutation in the VPS45 gene (T224N; 610035.0001). The mutation, which was found by homozygosity mapping and whole-exome sequencing, segregated ...