SCN4
MCID: SVR110
MIFTS: 15

Severe Congenital Neutropenia 4 (SCN4)

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 4

MalaCards integrated aliases for Severe Congenital Neutropenia 4:

Name: Severe Congenital Neutropenia 4 12
Severe Congenital Neutropenia-Pulmonary Hypertension-Superficial Venous Angiectasis Syndrome 12
Autosomal Recessive Severe Congenital Neutropenia Due to G6pc3 Deficiency 12
Dursun Syndrome 12
Scn4 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112136

Summaries for Severe Congenital Neutropenia 4

Disease Ontology : 12 A severe congenital neutropenia that has material basis in homozygous or compound heterozygous mutation in G6PC3 on chromosome 17q21.31.

MalaCards based summary : Severe Congenital Neutropenia 4, also known as severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome, is related to neutropenia, severe congenital, 4, autosomal recessive and pulmonary hypertension. An important gene associated with Severe Congenital Neutropenia 4 is G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3). Affiliated tissues include cardiac myocytes.

Related Diseases for Severe Congenital Neutropenia 4

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 neutropenia, severe congenital, 4, autosomal recessive 11.4
2 pulmonary hypertension 10.0
3 heart septal defect 10.0
4 atrial heart septal defect 10.0
5 albinism, oculocutaneous, type iv 9.9
6 alacrima, achalasia, and mental retardation syndrome 9.9
7 severe congenital neutropenia 9.9
8 oculocutaneous albinism 9.9
9 autosomal recessive disease 9.9
10 crohn's colitis 9.9
11 neutropenia 9.9
12 crohn's disease 9.9
13 albinism 9.9
14 g6pc3 deficiency 9.9

Graphical network of the top 20 diseases related to Severe Congenital Neutropenia 4:



Diseases related to Severe Congenital Neutropenia 4

Symptoms & Phenotypes for Severe Congenital Neutropenia 4

Drugs & Therapeutics for Severe Congenital Neutropenia 4

Search Clinical Trials , NIH Clinical Center for Severe Congenital Neutropenia 4

Genetic Tests for Severe Congenital Neutropenia 4

Anatomical Context for Severe Congenital Neutropenia 4

MalaCards organs/tissues related to Severe Congenital Neutropenia 4:

40
Cardiac Myocytes

Publications for Severe Congenital Neutropenia 4

Articles related to Severe Congenital Neutropenia 4:

# Title Authors PMID Year
1
Anaesthesia challenges of a parturient with paramyotonia congenita and terminal filum lipoma presenting for labour and caesarean section under epidural anaesthesia - a case report. 61
33602114 2021
2
Reliability of breeding values for feed intake and feed efficiency traits in dairy cattle: When dry matter intake recordings are sparse under different scenarios. 61
31155258 2019
3
Effects of seasonal acclimatization on thermal tolerance of inward currents in roach (Rutilus rutilus) cardiac myocytes. 61
28942482 2018
4
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes. 61
25288127 2015
5
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations. 61
25391451 2014
6
A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency. 61
23441086 2013
7
Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. 61
23171239 2012
8
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. 61
20717171 2011
9
A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification. 61
16624558 2006
10
Stable gold(III) complexes with thiosemicarbazone derivatives. 61
15252533 2004

Variations for Severe Congenital Neutropenia 4

Expression for Severe Congenital Neutropenia 4

Search GEO for disease gene expression data for Severe Congenital Neutropenia 4.

Pathways for Severe Congenital Neutropenia 4

GO Terms for Severe Congenital Neutropenia 4

Sources for Severe Congenital Neutropenia 4

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....