Severe Congenital Neutropenia 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Severe Congenital Neutropenia 1

MalaCards integrated aliases for Severe Congenital Neutropenia 1:

Name: Severe Congenital Neutropenia 1 ¹² ¹⁵

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080625

Sources

Summaries for Severe Congenital Neutropenia 1

Disease Ontology : ¹² A severe congenital neutropenia that has material basis in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13.

MalaCards based summary : Severe Congenital Neutropenia 1 is related to diphyllobothriasis and alzheimer disease mitochondrial. An important gene associated with Severe Congenital Neutropenia 1 is ELANE (Elastase, Neutrophil Expressed), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include neutrophil.

Sources

Related Diseases for Severe Congenital Neutropenia 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)

#	Related Disease	Score	Top Affiliating Genes
1	diphyllobothriasis	9.9	MT-ND5 MT-ND1
2	alzheimer disease mitochondrial	9.9	MT-ND2 MT-ND1
3	progressive myoclonus epilepsy 8	9.9	MT-ND5 MT-ND2
4	cortical blindness	9.8	MT-ND5 MT-ND1
5	myasthenic syndrome, congenital, 10	9.7	MT-ND2 MT-CO3
6	lactic acidosis	9.7	MT-ND5 MT-ND1 MT-CO3
7	thelaziasis	9.7	MT-ND5 MT-ND2 MT-ND1
8	dicrocoeliasis	9.7	MT-ND5 MT-ND2 MT-ND1
9	chronic progressive external ophthalmoplegia	9.7	MT-ND5 MT-ND1 MT-CO3
10	baylisascariasis	9.7	MT-ND5 MT-ND2 MT-ND1
11	mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes	9.7	MT-ND5 MT-ND1
12	pthirus pubis infestation	9.7	MT-ND5 MT-ND2 MT-ND1
13	lice infestation	9.7	MT-ND5 MT-ND2 MT-ND1
14	parasitic ectoparasitic infectious disease	9.6	MT-ND5 MT-ND2 MT-ND1
15	cranial nerve disease	9.6	MT-ND5 MT-ND2 MT-ND1
16	mitochondrial disorders	9.6	MT-ND5 MT-ND1 MT-CO3
17	mitochondrial complex i deficiency, nuclear type 1	9.5	MT-ND2 MT-ND1 MT-CO3
18	mitochondrial myopathy, infantile, transient	9.4	MT-ND5 MT-ND2 MT-ND1 MT-CO3
19	mitochondrial myopathy	9.4	MT-ND5 MT-ND2 MT-ND1 MT-CO3
20	hereditary optic neuropathy	9.4	MT-ND5 MT-ND2 MT-ND1 MT-CO3
21	neuropathy	9.4	MT-ND5 MT-ND2 MT-ND1 MT-CO3
22	myoclonic epilepsy associated with ragged-red fibers	9.4	MT-ND5 MT-ND2 MT-ND1 MT-CO3
23	mitochondrial encephalomyopathy	9.4	MT-ND5 MT-ND2 MT-ND1 MT-CO3
24	optic nerve disease	9.4	MT-ND5 MT-ND2 MT-ND1 MT-CO3
25	kearns-sayre syndrome	9.4	MT-ND5 MT-ND2 MT-ND1 MT-CO3
26	leber hereditary optic neuropathy, modifier of	9.4	MT-ND5 MT-ND2 MT-ND1 MT-CO3
27	mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	9.4	MT-ND5 MT-ND2 MT-ND1 MT-CO3
28	leber plus disease	9.3	MT-ND5 MT-ND2 MT-ND1 MT-CO3
29	leigh syndrome	9.3	MT-ND5 MT-ND2 MT-ND1 MT-CO3

Graphical network of the top 20 diseases related to Severe Congenital Neutropenia 1:

Sources

Symptoms & Phenotypes for Severe Congenital Neutropenia 1

Sources

Drugs & Therapeutics for Severe Congenital Neutropenia 1

Search Clinical Trials , NIH Clinical Center for Severe Congenital Neutropenia 1

Sources

Genetic Tests for Severe Congenital Neutropenia 1

Sources

Anatomical Context for Severe Congenital Neutropenia 1

MalaCards organs/tissues related to Severe Congenital Neutropenia 1:

⁴⁰

Neutrophil

Sources

Publications for Severe Congenital Neutropenia 1

Articles related to Severe Congenital Neutropenia 1:

#	Title	Authors	PMID	Year
1	[Mutations of the ELANE gene cause severe congenital neutropenia with periodontal disease: a case report]. ⁶¹	Chen Y...Zou J	32865368	2020
2	Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations. ⁶¹	Liu Q...Forsman H	31176364	2019
3	Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience. ⁶¹	Patiroglu T...Karakukcu M	27001505	2017

Sources

Genes for Severe Congenital Neutropenia 1

Genes related to Severe Congenital Neutropenia 1 (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ELANE	Elastase, Neutrophil Expressed	Protein Coding	6.02	DISEASES inferred ¹⁵
2	MT-ND5	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5	Protein Coding	6	DISEASES inferred ¹⁵
3	MT-CO3	Mitochondrially Encoded Cytochrome C Oxidase III	Protein Coding	5.93	DISEASES inferred ¹⁵
4	MT-ND2	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2	Protein Coding	5.54	DISEASES inferred ¹⁵
5	RBM15B	RNA Binding Motif Protein 15B	Protein Coding	5.47	DISEASES inferred ¹⁵
6	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	5.45	DISEASES inferred ¹⁵

Sources

Variations for Severe Congenital Neutropenia 1

Sources

Expression for Severe Congenital Neutropenia 1

Search GEO for disease gene expression data for Severe Congenital Neutropenia 1.

Sources

Pathways for Severe Congenital Neutropenia 1

Pathways related to Severe Congenital Neutropenia 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Pathways of neurodegeneration - multiple diseases ³⁶ Show member pathways Alzheimer disease ³⁶ Amyotrophic lateral sclerosis ³⁶ Huntington disease ³⁶	12.74	MT-ND5 MT-ND2 MT-ND1 MT-CO3
2	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁵ Show member pathways Complex I biogenesis ⁶⁵ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁵ Non-alcoholic fatty liver disease ³⁶ Oxidative phosphorylation ³⁶ Oxidative phosphorylation ¹ Respiratory electron transport ⁶⁵ The citric acid (TCA) cycle and respiratory electron transport ⁶⁵ Thermogenesis ³⁶	12.52	MT-ND5 MT-ND2 MT-ND1 MT-CO3
3	GABAergic synapse ³⁶ Show member pathways Morphine addiction ³⁶ Retrograde endocannabinoid signaling ³⁶	11.65	MT-ND5 MT-ND2 MT-ND1
4	Prion disease ³⁶ Show member pathways Parkinson disease ³⁶	11.64	MT-ND5 MT-ND2 MT-ND1 MT-CO3

Sources

GO Terms for Severe Congenital Neutropenia 1

Cellular components related to Severe Congenital Neutropenia 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrion	GO:0005739	9.56	MT-ND5 MT-ND2 MT-ND1 MT-CO3
2	mitochondrial inner membrane	GO:0005743	9.46	MT-ND5 MT-ND2 MT-ND1 MT-CO3
3	respiratory chain	GO:0070469	9.13	MT-ND5 MT-ND2 MT-ND1
4	mitochondrial respiratory chain complex I	GO:0005747	8.8	MT-ND5 MT-ND2 MT-ND1

Biological processes related to Severe Congenital Neutropenia 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidation-reduction process	GO:0055114	9.43	MT-ND5 MT-ND2 MT-ND1
2	aerobic respiration	GO:0009060	9.16	MT-ND1 MT-CO3
3	mitochondrial respiratory chain complex I assembly	GO:0032981	9.13	MT-ND5 MT-ND2 MT-ND1
4	mitochondrial electron transport, NADH to ubiquinone	GO:0006120	8.8	MT-ND5 MT-ND2 MT-ND1

Molecular functions related to Severe Congenital Neutropenia 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	NADH dehydrogenase activity	GO:0003954	8.96	MT-ND5 MT-ND1
2	NADH dehydrogenase (ubiquinone) activity	GO:0008137	8.8	MT-ND5 MT-ND2 MT-ND1

Sources

Sources for Severe Congenital Neutropenia 1

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-Mar-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 TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia