SCN8
MCID: SVR109
MIFTS: 11

Severe Congenital Neutropenia 8 (SCN8)

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 8

MalaCards integrated aliases for Severe Congenital Neutropenia 8:

Name: Severe Congenital Neutropenia 8 12
Autosomal Dominant Severe Congenital Neutropenia 8 with or Without Pancreatic Dysfunction and/or Neurological Abnormalities 12
Shwachman-Diamond Syndrome-Like 12
Scn8 12
Sdsl 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112135

Summaries for Severe Congenital Neutropenia 8

Disease Ontology : 12 An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has material basis in heterozygous mutation in SRP54 on chromosome 14q13.2.

MalaCards based summary : Severe Congenital Neutropenia 8, also known as autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities, is related to neutropenia, severe congenital, 8, autosomal dominant and jackson-weiss syndrome.

Related Diseases for Severe Congenital Neutropenia 8

Graphical network of the top 20 diseases related to Severe Congenital Neutropenia 8:



Diseases related to Severe Congenital Neutropenia 8

Symptoms & Phenotypes for Severe Congenital Neutropenia 8

Drugs & Therapeutics for Severe Congenital Neutropenia 8

Search Clinical Trials , NIH Clinical Center for Severe Congenital Neutropenia 8

Genetic Tests for Severe Congenital Neutropenia 8

Anatomical Context for Severe Congenital Neutropenia 8

Publications for Severe Congenital Neutropenia 8

Articles related to Severe Congenital Neutropenia 8:

# Title Authors PMID Year
1
Cellular Traffic Jam and Disease Due to Mutations in SRP54. 61
33417891 2021
2
Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome. 61
22271888 2012

Variations for Severe Congenital Neutropenia 8

Expression for Severe Congenital Neutropenia 8

Search GEO for disease gene expression data for Severe Congenital Neutropenia 8.

Pathways for Severe Congenital Neutropenia 8

GO Terms for Severe Congenital Neutropenia 8

Sources for Severe Congenital Neutropenia 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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