MCID: SVR103
MIFTS: 19

Severe Congenital Neutropenia 1

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Severe Congenital Neutropenia 1

MalaCards integrated aliases for Severe Congenital Neutropenia 1:

Name: Severe Congenital Neutropenia 1 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080625

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 sparganosis. An important gene associated with Severe Congenital Neutropenia 1 is MT-ND5 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Parkinson disease. Affiliated tissues include neutrophil.

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 Elane-Related Neutropenia
Severe Congenital Neutropenia Autosomal Dominant 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 23)
# Related Disease Score Top Affiliating Genes
1 diphyllobothriasis 9.9 MT-ND5 MT-ND1
2 sparganosis 9.9 MT-ND5 MT-ND1
3 cortical blindness 9.8 MT-ND5 MT-ND1
4 cranial nerve disease 9.8 MT-ND5 MT-ND1
5 mitochondrial disorders 9.7 MT-ND5 MT-ND1
6 progressive myoclonus epilepsy 8 9.7 MT-ND5 MT-ND2
7 lactic acidosis 9.6 MT-ND5 MT-ND1 MT-CO3
8 myoclonic epilepsy associated with ragged-red fibers 9.6 MT-ND5 MT-ND1 MT-CO3
9 alzheimer disease mitochondrial 9.5 MT-ND2 MT-ND1
10 thelaziasis 9.4 MT-ND5 MT-ND2 MT-ND1
11 mitochondrial complex i deficiency, nuclear type 1 9.2 MT-ND2 MT-ND1
12 mitochondrial myopathy, infantile, transient 9.0 MT-ND5 MT-ND2 MT-ND1 MT-CO3
13 mitochondrial myopathy 9.0 MT-ND5 MT-ND2 MT-ND1 MT-CO3
14 myopathy 9.0 MT-ND5 MT-ND2 MT-ND1 MT-CO3
15 hereditary optic neuropathy 9.0 MT-ND5 MT-ND2 MT-ND1 MT-CO3
16 neuropathy 9.0 MT-ND5 MT-ND2 MT-ND1 MT-CO3
17 optic nerve disease 9.0 MT-ND5 MT-ND2 MT-ND1 MT-CO3
18 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.0 MT-ND5 MT-ND2 MT-ND1 MT-CO3
19 leber optic atrophy 9.0 MT-ND5 MT-ND2 MT-ND1 MT-CO3
20 mitochondrial encephalomyopathy 9.0 MT-ND5 MT-ND2 MT-ND1 MT-CO3
21 kearns-sayre syndrome 9.0 MT-ND5 MT-ND2 MT-ND1 MT-CO3
22 mitochondrial metabolism disease 9.0 MT-ND5 MT-ND2 MT-ND1 MT-CO3
23 leigh syndrome 8.9 MT-ND5 MT-ND2 MT-ND1 MT-CO3

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



Diseases related to Severe Congenital Neutropenia 1

Symptoms & Phenotypes for Severe Congenital Neutropenia 1

Drugs & Therapeutics for Severe Congenital Neutropenia 1

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

Genetic Tests for Severe Congenital Neutropenia 1

Anatomical Context for Severe Congenital Neutropenia 1

MalaCards organs/tissues related to Severe Congenital Neutropenia 1:

40
Neutrophil

Publications for Severe Congenital Neutropenia 1

Articles related to Severe Congenital Neutropenia 1:

# Title Authors PMID Year
1
Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations. 61
31176364 2019
2
Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience. 61
27001505 2017

Variations for Severe Congenital Neutropenia 1

Expression for Severe Congenital Neutropenia 1

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

Pathways for Severe Congenital Neutropenia 1

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 9.46 MT-ND5 MT-ND2 MT-ND1 MT-CO3
2 aerobic respiration GO:0009060 9.26 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 for Severe Congenital Neutropenia 1

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72 UMLS via Orphanet
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