Severe Congenital Neutropenia 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Tissues Related diseases Publications Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases
Anatomical: Blood diseases Bone diseases Immune diseases Nephrological diseases Neuronal diseases Respiratory diseases Cardiovascular diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0112132

Sources

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.

Sources

Related Diseases for Severe Congenital Neutropenia 5

Diseases in the Neutropenia family:

Neutropenia, Chronic Familial	Neutropenia, Severe Congenital, 1, Autosomal Dominant
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Severe Congenital Neutropenia
Severe Congenital Neutropenia 1	Severe Congenital Neutropenia 7
Autosomal Dominant Severe Congenital Neutropenia	Severe Congenital Neutropenia 2
Severe Congenital Neutropenia 5	Severe Congenital Neutropenia 3
Severe Congenital Neutropenia 6	Severe Congenital Neutropenia 8
Severe Congenital Neutropenia 4	Elane-Related Neutropenia
Acquired Neutropenia	Autosomal Recessive Severe Congenital Neutropenia

Diseases related to Severe Congenital Neutropenia 5 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	neutropenia, severe congenital, 5, autosomal recessive	11.6
2	severe congenital neutropenia	10.0
3	neutropenia	10.0

Sources

Symptoms & Phenotypes for Severe Congenital Neutropenia 5

Sources

Drugs & Therapeutics for Severe Congenital Neutropenia 5

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

Sources

Genetic Tests for Severe Congenital Neutropenia 5

Sources

Anatomical Context for Severe Congenital Neutropenia 5

MalaCards organs/tissues related to Severe Congenital Neutropenia 5:

⁴⁰

Bone Marrow, Neutrophil, Bone

Sources

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	Frey L...Klein C	33512427	2020
2	A rare form of congenital neutropenia: VPS45 deficiency. ⁶¹	Karaatmaca B...Tezcan I	32037586	2020
3	Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes. ⁶¹	Hauck F...Klein C	24145314	2013
4	VPS 45-associated primary infantile myelofibrosis--successful treatment with hematopoietic stem cell transplantation. ⁶¹	Stepensky P...Weintraub M	24164830	2013
5	A congenital neutrophil defect syndrome associated with mutations in VPS45. ⁶¹	Vilboux T...Somech R	23738510	2013

Sources

Genes for Severe Congenital Neutropenia 5

Genes related to Severe Congenital Neutropenia 5 (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	VPS45	Vacuolar Protein Sorting 45 Homolog	Protein Coding	9.62	GeneCards inferred via : Variants (show sections)

Sources

Variations for Severe Congenital Neutropenia 5

Sources

Expression for Severe Congenital Neutropenia 5

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

Sources

Pathways for Severe Congenital Neutropenia 5

Sources

GO Terms for Severe Congenital Neutropenia 5

Sources

Sources for Severe Congenital Neutropenia 5

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Severe Congenital Neutropenia 5 (SCN5)

Aliases & Classifications for Severe Congenital Neutropenia 5

MalaCards integrated aliases for Severe Congenital Neutropenia 5:

Classifications:

External Ids:

Summaries for Severe Congenital Neutropenia 5

Related Diseases for Severe Congenital Neutropenia 5

Diseases in the Neutropenia family:

Diseases related to Severe Congenital Neutropenia 5 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Severe Congenital Neutropenia 5

Drugs & Therapeutics 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:

Publications for Severe Congenital Neutropenia 5

Articles related to Severe Congenital Neutropenia 5:

Genes for Severe Congenital Neutropenia 5

Genes related to Severe Congenital Neutropenia 5 (0 elite genes):

Variations for Severe Congenital Neutropenia 5

Expression for Severe Congenital Neutropenia 5

Pathways for Severe Congenital Neutropenia 5

GO Terms for Severe Congenital Neutropenia 5

Sources for Severe Congenital Neutropenia 5