SCN5
MCID: SVR106
MIFTS: 14

Severe Congenital Neutropenia 5 (SCN5)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Severe Congenital Neutropenia 5

MalaCards integrated aliases for Severe Congenital Neutropenia 5:

Name: Severe Congenital Neutropenia 5 12
Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome 12
Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome 12
Vps45 Deficiency 12
Scn5 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112132

Summaries for Severe Congenital Neutropenia 5

Disease Ontology : 12 A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has material basis in homozygous or compound heterozygous mutation in VPS45 on chromosome 1q21.2.

MalaCards based summary : Severe Congenital Neutropenia 5, also known as congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome, is related to neutropenia, severe congenital, 5, autosomal recessive and severe congenital neutropenia. An important gene associated with Severe Congenital Neutropenia 5 is VPS45 (Vacuolar Protein Sorting 45 Homolog). Affiliated tissues include bone marrow, neutrophil and bone.

Related Diseases for Severe Congenital Neutropenia 5

Symptoms & Phenotypes for Severe Congenital Neutropenia 5

Drugs & Therapeutics for Severe Congenital Neutropenia 5

Search Clinical Trials , NIH Clinical Center for Severe Congenital Neutropenia 5

Genetic Tests for Severe Congenital Neutropenia 5

Anatomical Context for Severe Congenital Neutropenia 5

MalaCards organs/tissues related to Severe Congenital Neutropenia 5:

40
Bone Marrow, Neutrophil, Bone

Publications for Severe Congenital Neutropenia 5

Articles related to Severe Congenital Neutropenia 5:

# Title Authors PMID Year
1
Mammalian VPS45 orchestrates trafficking through the endosomal system. 61
33512427 2020
2
A rare form of congenital neutropenia: VPS45 deficiency. 61
32037586 2020
3
Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes. 61
24145314 2013
4
VPS 45-associated primary infantile myelofibrosis--successful treatment with hematopoietic stem cell transplantation. 61
24164830 2013
5
A congenital neutrophil defect syndrome associated with mutations in VPS45. 61
23738510 2013

Variations for Severe Congenital Neutropenia 5

Expression for Severe Congenital Neutropenia 5

Search GEO for disease gene expression data for Severe Congenital Neutropenia 5.

Pathways for Severe Congenital Neutropenia 5

GO Terms for Severe Congenital Neutropenia 5

Sources for Severe Congenital Neutropenia 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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