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

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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

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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 progressive myoclonus epilepsy 8. 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.

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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 34)

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

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

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Symptoms & Phenotypes for Severe Congenital Neutropenia 1

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Drugs & Therapeutics for Severe Congenital Neutropenia 1

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

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Genetic Tests for Severe Congenital Neutropenia 1

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Anatomical Context for Severe Congenital Neutropenia 1

MalaCards organs/tissues related to Severe Congenital Neutropenia 1:

⁴⁰

Neutrophil

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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

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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	5.99	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	5.53	DISEASES inferred ¹⁵
5	RBM15B	RNA Binding Motif Protein 15B	Protein Coding	5.46	DISEASES inferred ¹⁵
6	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	5.45	DISEASES inferred ¹⁵

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Variations for Severe Congenital Neutropenia 1

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Expression for Severe Congenital Neutropenia 1

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

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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 Diabetic cardiomyopathy ³⁶ 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	12.59	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

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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

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Sources for Severe Congenital Neutropenia 1

¹ BioSystems

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²⁷ GEO DataSets

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³² ICD10

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³⁵ IUPHAR

³⁶ KEGG

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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⁶⁹ Tocris

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⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia