MCID: SVR103
MIFTS: 20

Severe Congenital Neutropenia 1

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 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 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.

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:



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
[Mutations of the ELANE gene cause severe congenital neutropenia with periodontal disease: a case report]. 61
32865368 2020
2
Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations. 61
31176364 2019
3
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 9.43 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 for Severe Congenital Neutropenia 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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