Severe Congenital Neutropenia 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Severe Congenital Neutropenia 5

MalaCards integrated aliases for Severe Congenital Neutropenia 5:

Name: Severe Congenital Neutropenia 5 ¹¹ ¹⁴

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome ¹¹ ⁵⁸ ²⁸ ⁵

Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome ¹¹ ⁵⁸

Vps45 Deficiency ¹¹ ⁵⁸

Scn5 ¹¹

Characteristics:

Inheritance:

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome: Autosomal recessive ⁵⁸

Prevelance:

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome: <1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome: Infancy,Neonatal ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Cancer diseases Infectious diseases
Anatomical: Blood diseases Neuronal diseases Respiratory diseases Bone diseases Immune diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Other diseases of blood and blood-forming organs

Agranulocytosis

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

Disease Ontology ¹¹ DOID:0112132

ICD10 via Orphanet ³² D70

Orphanet ⁵⁸ ORPHA369852

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Summaries for Severe Congenital Neutropenia 5

Orphanet: ⁵⁸ Congenital neutropenia-myelofibrosis-nephromegaly syndrome is rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG).

MalaCards based summary: Severe Congenital Neutropenia 5, also known as congenital neutropenia-myelofibrosis-nephromegaly syndrome, is related to severe congenital neutropenia and neutropenia. An important gene associated with Severe Congenital Neutropenia 5 is VPS45 (Vacuolar Protein Sorting 45 Homolog), and among its related pathways/superpathways are wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) and Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include bone marrow, bone and neutrophil, and related phenotype is mortality/aging.

Disease Ontology: ¹¹ A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has material basis in homozygous or compound heterozygous mutation in VPS45 on chromosome 1q21.2.

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Related Diseases for Severe Congenital Neutropenia 5

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	Neutropenia, Severe Congenital, 9, 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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)

#	Related Disease	Score	Top Affiliating Genes
1	severe congenital neutropenia	28.7	VPS45 SLC37A4 LAMTOR2 JAGN1 HAX1 GFI1
2	neutropenia	28.7	VPS45 USB1 SLC37A4 JAGN1 HAX1 GFI1
3	neutropenia, severe congenital, 5, autosomal recessive	11.6
4	autosomal recessive severe congenital neutropenia	10.2	HAX1 G6PC3
5	severe congenital neutropenia 6	10.2	JAGN1 G6PC3
6	whim syndrome 1	10.1	HAX1 G6PC3
7	hermansky-pudlak syndrome	10.0	VPS45 LAMTOR2 G6PC3
8	shwachman-diamond syndrome 1	10.0	HAX1 GFI1 G6PC3
9	familial sick sinus syndrome	10.0	SCN5A HCN4
10	sick sinus syndrome	9.9	SCN5A HCN4
11	second-degree atrioventricular block	9.9	SCN5A HCN4
12	atrioventricular block	9.9	SCN5A HCN4
13	progressive familial heart block	9.9	SCN5A HCN4
14	sinoatrial node disease	9.9	SCN5A HCN4
15	long qt syndrome 9	9.9	SCN5A HCN4
16	right bundle branch block	9.8	SCN5A HCN4
17	glycogen storage disease ia	9.8	SLC37A4 G6PC3
18	ebstein anomaly	9.8	SCN5A HCN4
19	severe congenital neutropenia 4	9.8	SLC37A4 HAX1 G6PC3
20	atrial heart septal defect	9.8	SCN5A HCN4 G6PC3
21	cohen syndrome	9.8	VPS45 LAMTOR2 JAGN1 HAX1 G6PC3
22	third-degree atrioventricular block	9.7	SCN5A HCN4
23	poikiloderma with neutropenia	9.7	VPS45 USB1 JAGN1 HAX1 G6PC3
24	long qt syndrome 2	9.6	SCN5A HCN4
25	severe congenital neutropenia 7	9.5	VPS45 USB1 JAGN1 HAX1 GFI1 G6PC3
26	severe congenital neutropenia 3	9.3	VPS45 SLC37A4 JAGN1 HAX1 GFI1 G6PC3
27	autosomal dominant severe congenital neutropenia	9.3	SLC37A4 LAMTOR2 JAGN1 HAX1 GFI1 G6PC3
28	cyclic neutropenia	9.2	USB1 SLC37A4 JAGN1 HAX1 GFI1 G6PC3

Graphical network of the top 20 diseases related to Severe Congenital Neutropenia 5:

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Symptoms & Phenotypes for Severe Congenital Neutropenia 5

MGI Mouse Phenotypes related to Severe Congenital Neutropenia 5:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	9.32	G6PC3 GFI1 HAX1 HCN4 LAMTOR2 RBSN

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Drugs & Therapeutics for Severe Congenital Neutropenia 5

Search Clinical Trials, NIH Clinical Center for Severe Congenital Neutropenia 5

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Genetic Tests for Severe Congenital Neutropenia 5

Genetic tests related to Severe Congenital Neutropenia 5:

#	Genetic test	Affiliating Genes
1	Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome ²⁸	VPS45

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Anatomical Context for Severe Congenital Neutropenia 5

Organs/tissues related to Severe Congenital Neutropenia 5:

MalaCards : Bone Marrow, Bone, Neutrophil, Cardiac Myocytes, Cortex

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Publications for Severe Congenital Neutropenia 5

Articles related to Severe Congenital Neutropenia 5:

(show all 16)

#	Title	Authors	PMID	Year
1	A rare form of congenital neutropenia: VPS45 deficiency. ⁶² ⁵	Karaatmaca B...Tezcan I	32037586	2020
2	A congenital neutrophil defect syndrome associated with mutations in VPS45. ⁶² ⁵	Vilboux T...Somech R	23738510	2013
3	Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation. ⁵	Meerschaut I...Callewaert B	26358756	2015
4	The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. ⁵	Stepensky P...Mevorach D	23599270	2013
5	Full-Length Transcriptional Analysis of the Same Soybean Genotype With Compatible and Incompatible Reactions to Heterodera glycines Reveals Nematode Infection Activating Plant Defense Response. ⁶²	Huang M...Wang C	35665156	2022
6	Gene variant effects across sodium channelopathies predict function and guide precision therapy. ⁶²	Brunklaus A...Schorge S	35037686	2022
7	Mammalian VPS45 orchestrates trafficking through the endosomal system. ⁶²	Frey L...Klein C	33512427	2021
8	[Discovery and study on potential effect of herbal pair of Uncariae Ramulus cum Uncis-Eucommiae Cortex on pregnancy hypertension based on network pharmacology and molecular docking]. ⁶²	Na Z...Zhi-Yong LI	33350198	2020
9	Periodontal Disease in Two Siblings with VPS45-associated Severe Congenital Neutropenia Type V: A Case Report. ⁶²	Alotaibi FA...Albarkheel AI	33623350	2020
10	Preparation and characterization of chemically TEMPO-oxidized and mechanically disintegrated sacchachitin nanofibers (SCNF) for enhanced diabetic wound healing. ⁶²	Chao FC...Sheu MT	31826505	2020
11	Reliability of breeding values for feed intake and feed efficiency traits in dairy cattle: When dry matter intake recordings are sparse under different scenarios. ⁶²	Negussie E...Lidauer MH	31155258	2019
12	[Adverse reactions analysis of Aconiti Lateralis Radix Praeparata and mechanism prediction of cardiac toxicity by network pharmacology]. ⁶²	He J...Gao R	30989863	2019
13	Effects of seasonal acclimatization on thermal tolerance of inward currents in roach (Rutilus rutilus) cardiac myocytes. ⁶²	Badr A...Vornanen M	28942482	2018
14	Direct activation of the Mauthner cell by electric field pulses drives ultrarapid escape responses. ⁶²	Tabor KM...Burgess HA	24848468	2014
15	VPS 45-associated primary infantile myelofibrosis--successful treatment with hematopoietic stem cell transplantation. ⁶²	Stepensky P...Weintraub M	24164830	2013
16	Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes. ⁶²	Hauck F...Klein C	24145314	2013

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Genes for Severe Congenital Neutropenia 5

Genes related to Severe Congenital Neutropenia 5 (2 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	VPS45	Vacuolar Protein Sorting 45 Homolog	Protein Coding	882.62	Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	23738510 23599270 26358756 (more) 32037586
2	RBSN	Rabenosyn, RAB Effector	Protein Coding	355.27	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	29784638
3	G6PC3	Glucose-6-Phosphatase Catalytic Subunit 3	Protein Coding	6.18	DISEASES inferred ¹⁴
4	LAMTOR2	Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 2	Protein Coding	5.86	DISEASES inferred ¹⁴
5	HAX1	HCLS1 Associated Protein X-1	Protein Coding	5.82	DISEASES inferred ¹⁴
6	JAGN1	Jagunal Homolog 1	Protein Coding	5.8	DISEASES inferred ¹⁴
7	STX16	Syntaxin 16	Protein Coding	5.57	DISEASES inferred ¹⁴
8	USB1	U6 SnRNA Biogenesis Phosphodiesterase 1	Protein Coding	5.51	DISEASES inferred ¹⁴
9	GFI1	Growth Factor Independent 1 Transcriptional Repressor	Protein Coding	5.4	DISEASES inferred ¹⁴
10	NUP210L	Nucleoporin 210 Like	Protein Coding	5.32	DISEASES inferred ¹⁴
11	HCN4	Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4	Protein Coding	5.32	DISEASES inferred ¹⁴
12	VAMP1	Vesicle Associated Membrane Protein 1	Protein Coding	5.04	DISEASES inferred ¹⁴
13	SLC37A4	Solute Carrier Family 37 Member 4	Protein Coding	4.94	DISEASES inferred ¹⁴
14	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	4.84	DISEASES inferred ¹⁴

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Variations for Severe Congenital Neutropenia 5

ClinVar genetic disease variations for Severe Congenital Neutropenia 5:

⁵ (show top 50) (show all 289)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	VPS45	NM_007259.5(VPS45):c.671C>A (p.Thr224Asn)	SNV	Pathogenic	55906	rs879255237	GRCh37: 1:150049841-150049841 GRCh38: 1:150077763-150077763
2	VPS45	NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)	SNV	Likely Pathogenic	55907	rs782269909	GRCh37: 1:150053448-150053448 GRCh38: 1:150081366-150081366
3	VPS45	NM_007259.5(VPS45):c.758C>T (p.Pro253Leu)	SNV	Conflicting Interpretations Of Pathogenicity	791006	rs143828923	GRCh37: 1:150053494-150053494 GRCh38: 1:150081412-150081412
4	VPS45	NM_007259.5(VPS45):c.1448A>G (p.Lys483Arg)	SNV	Uncertain Significance	834669	rs917642055	GRCh37: 1:150065699-150065699 GRCh38: 1:150093603-150093603
5	VPS45	NM_007259.5(VPS45):c.526C>T (p.Arg176Cys)	SNV	Uncertain Significance	853326	rs782677308	GRCh37: 1:150049259-150049259 GRCh38: 1:150077181-150077181
6	VPS45	NM_007259.5(VPS45):c.1481C>T (p.Thr494Ile)	SNV	Uncertain Significance	853448	rs1656465946	GRCh37: 1:150065732-150065732 GRCh38: 1:150093636-150093636
7	VPS45	NM_007259.5(VPS45):c.1186G>C (p.Glu396Gln)	SNV	Uncertain Significance	859122	rs1656350811	GRCh37: 1:150064112-150064112 GRCh38: 1:150092018-150092018
8	VPS45	NM_007259.5(VPS45):c.658G>C (p.Asp220His)	SNV	Uncertain Significance	937399	rs1175122293	GRCh37: 1:150049828-150049828 GRCh38: 1:150077750-150077750
9	VPS45	NM_007259.5(VPS45):c.1267G>A (p.Val423Met)	SNV	Uncertain Significance	951733	rs201002467	GRCh37: 1:150064399-150064399 GRCh38: 1:150092305-150092305
10	VPS45	NM_007259.5(VPS45):c.1334C>G (p.Ala445Gly)	SNV	Uncertain Significance	971292	rs781801888	GRCh37: 1:150064466-150064466 GRCh38: 1:150092372-150092372
11	VPS45	NM_007259.5(VPS45):c.1019G>A (p.Arg340Gln)	SNV	Uncertain Significance	971734	rs782749137	GRCh37: 1:150054882-150054882 GRCh38: 1:150082798-150082798
12	VPS45	NM_007259.5(VPS45):c.1418C>A (p.Thr473Asn)	SNV	Uncertain Significance	577348	rs1553802469	GRCh37: 1:150065669-150065669 GRCh38: 1:150093573-150093573
13	VPS45	NM_007259.5(VPS45):c.571G>A (p.Val191Ile)	SNV	Uncertain Significance	642887	rs200783288	GRCh37: 1:150049304-150049304 GRCh38: 1:150077226-150077226
14	VPS45	NM_007259.5(VPS45):c.1294A>C (p.Lys432Gln)	SNV	Uncertain Significance	645285	rs1571849671	GRCh37: 1:150064426-150064426 GRCh38: 1:150092332-150092332
15	VPS45	NM_007259.5(VPS45):c.192A>T (p.Lys64Asn)	SNV	Uncertain Significance	651412	rs1441537795	GRCh37: 1:150040785-150040785 GRCh38: 1:150068728-150068728
16	VPS45	NM_007259.5(VPS45):c.167A>G (p.Asp56Gly)	SNV	Uncertain Significance	659684	rs1278390607	GRCh37: 1:150040760-150040760 GRCh38: 1:150068703-150068703
17	VPS45	NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser)	SNV	Uncertain Significance	661964	rs368347807	GRCh37: 1:150049766-150049766 GRCh38: 1:150077688-150077688
18	VPS45	NM_007259.5(VPS45):c.1538A>G (p.Glu513Gly)	SNV	Uncertain Significance	665696	rs1571879434	GRCh37: 1:150082655-150082655 GRCh38: 1:150110540-150110540
19	VPS45	NM_007259.5(VPS45):c.614G>A (p.Arg205His)	SNV	Uncertain Significance	474245	rs146660821	GRCh37: 1:150049784-150049784 GRCh38: 1:150077706-150077706
20	VPS45	NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys)	SNV	Uncertain Significance	626050	rs782797599	GRCh37: 1:150082652-150082652 GRCh38: 1:150110537-150110537
21	VPS45	NM_007259.5(VPS45):c.319G>A (p.Val107Met)	SNV	Uncertain Significance	639607	rs782553177	GRCh37: 1:150048340-150048340 GRCh38: 1:150076262-150076262
22	VPS45	NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln)	SNV	Uncertain Significance	647655	rs142968690	GRCh37: 1:150116925-150116925 GRCh38: 1:150144747-150144747
23	VPS45	NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr)	SNV	Uncertain Significance	659879	rs782358688	GRCh37: 1:150040763-150040763 GRCh38: 1:150068706-150068706
24	VPS45	NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln)	SNV	Uncertain Significance	665526	rs373735080	GRCh37: 1:150064116-150064116 GRCh38: 1:150092022-150092022
25	VPS45	NM_007259.5(VPS45):c.1567C>T (p.Arg523Cys)	SNV	Uncertain Significance	841086	rs782426640	GRCh37: 1:150082684-150082684 GRCh38: 1:150110569-150110569
26	VPS45	NM_007259.5(VPS45):c.778A>G (p.Arg260Gly)	SNV	Uncertain Significance	850179	rs587646859	GRCh37: 1:150053514-150053514 GRCh38: 1:150081432-150081432
27	VPS45	NM_007259.5(VPS45):c.1162G>A (p.Val388Met)	SNV	Uncertain Significance	851006	rs782104716	GRCh37: 1:150064088-150064088 GRCh38: 1:150091994-150091994
28	VPS45	NM_007259.5(VPS45):c.257T>C (p.Leu86Pro)	SNV	Uncertain Significance	863733	rs782513242	GRCh37: 1:150044261-150044261 GRCh38: 1:150072194-150072194
29	VPS45	NM_007259.5(VPS45):c.695_696del (p.Tyr232fs)	MICROSAT	Uncertain Significance	864158	rs782700993	GRCh37: 1:150053429-150053430 GRCh38: 1:150081347-150081348
30	VPS45	NM_007259.5(VPS45):c.617G>A (p.Arg206Gln)	SNV	Uncertain Significance	952644	rs782495021	GRCh37: 1:150049787-150049787 GRCh38: 1:150077709-150077709
31	VPS45	NM_007259.5(VPS45):c.481G>A (p.Gly161Arg)	SNV	Uncertain Significance	960979	rs200134576	GRCh37: 1:150049214-150049214 GRCh38: 1:150077136-150077136
32	VPS45	NM_007259.5(VPS45):c.687G>C (p.Gln229His)	SNV	Uncertain Significance	966855	rs200019200	GRCh37: 1:150049857-150049857 GRCh38: 1:150077779-150077779
33	VPS45	NM_007259.5(VPS45):c.580G>A (p.Val194Met)	SNV	Uncertain Significance	970136	rs587713385	GRCh37: 1:150049750-150049750 GRCh38: 1:150077672-150077672
34	VPS45	NM_007259.5(VPS45):c.173A>G (p.Gln58Arg)	SNV	Uncertain Significance	991391	rs1654862605	GRCh37: 1:150040766-150040766 GRCh38: 1:150068709-150068709
35	VPS45	NM_007259.5(VPS45):c.353T>G (p.Val118Gly)	SNV	Uncertain Significance	991392	rs1298740891	GRCh37: 1:150048374-150048374 GRCh38: 1:150076296-150076296
36	VPS45	NM_007259.5(VPS45):c.419A>G (p.Asn140Ser)	SNV	Uncertain Significance	991394	rs782339252	GRCh37: 1:150049043-150049043 GRCh38: 1:150076965-150076965
37	VPS45	NM_007259.5(VPS45):c.443G>A (p.Arg148Gln)	SNV	Uncertain Significance	991395	rs370166172	GRCh37: 1:150049176-150049176 GRCh38: 1:150077098-150077098
38	VPS45	NM_007259.5(VPS45):c.462G>A (p.Gln154=)	SNV	Uncertain Significance	991396	rs781792682	GRCh37: 1:150049195-150049195 GRCh38: 1:150077117-150077117
39	VPS45	NM_007259.5(VPS45):c.739A>G (p.Ile247Val)	SNV	Uncertain Significance	991397	rs1553799320	GRCh37: 1:150053475-150053475 GRCh38: 1:150081393-150081393
40	VPS45	NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp)	SNV	Uncertain Significance	991398	rs782225422	GRCh37: 1:150054896-150054896 GRCh38: 1:150082812-150082812
41	VPS45	NM_007259.5(VPS45):c.1133A>G (p.Lys378Arg)	SNV	Uncertain Significance	991399	rs190896405	GRCh37: 1:150064059-150064059 GRCh38: 1:150091965-150091965
42	VPS45	NM_007259.5(VPS45):c.1181A>G (p.His394Arg)	SNV	Uncertain Significance	991400	rs1486347658	GRCh37: 1:150064107-150064107 GRCh38: 1:150092013-150092013
43	VPS45	NM_007259.5(VPS45):c.613C>T (p.Arg205Cys)	SNV	Uncertain Significance	1020881	rs908608470	GRCh37: 1:150049783-150049783 GRCh38: 1:150077705-150077705
44	VPS45	NM_007259.5(VPS45):c.223A>G (p.Thr75Ala)	SNV	Uncertain Significance	1029151	rs782052786	GRCh37: 1:150040816-150040816 GRCh38: 1:150068759-150068759
45	VPS45	NM_007259.5(VPS45):c.312G>C (p.Lys104Asn)	SNV	Uncertain Significance	1387412		GRCh37: 1:150048333-150048333 GRCh38: 1:150076255-150076255
46	VPS45	NM_007259.5(VPS45):c.1577C>G (p.Pro526Arg)	SNV	Uncertain Significance	1381171		GRCh37: 1:150082694-150082694 GRCh38: 1:150110579-150110579
47	overlap with 11 genes	NC_000001.10:g.(?_150044213)_(150477474_?)dup	DUP	Uncertain Significance	1411622		GRCh37: 1:150044213-150477474 GRCh38:
48	VPS45	NM_007259.5(VPS45):c.576+4T>C	SNV	Uncertain Significance	1430772		GRCh37: 1:150049313-150049313 GRCh38: 1:150077235-150077235
49	VPS45	NM_007259.5(VPS45):c.466T>G (p.Ser156Ala)	SNV	Uncertain Significance	1361830		GRCh37: 1:150049199-150049199 GRCh38: 1:150077121-150077121
50	VPS45	NC_000001.10:g.(?_150048291)_(150082762_?)dup	DUP	Uncertain Significance	1433409		GRCh37: 1:150048291-150082762 GRCh38:

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Expression for Severe Congenital Neutropenia 5

Search GEO for disease gene expression data for Severe Congenital Neutropenia 5.

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Pathways for Severe Congenital Neutropenia 5

Pathways related to Severe Congenital Neutropenia 5 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) ²² Show member pathways Delta508-CFTR traffic / ER-to-Golgi in CF ²² Normal wtCFTR traffic / ER-to-Golgi ²² RHO GTPases regulate CFTR trafficking ⁶⁶ Transport Clathrin-coated vesicle cycle ²² wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF) ²²	11.76	VPS45 STX16 RBSN
2	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.06	SCN5A HCN4
3	Diseases of carbohydrate metabolism ⁶⁶ Show member pathways Glycogen storage disease type Ib (SLC37A4) ⁶⁶ Glycogen storage disease type II (GAA) ⁶⁶ Glycogen storage diseases ⁶⁶ Severe congenital neutropenia type 4 (G6PC3) ⁶⁶	10.99	SLC37A4 G6PC3
4	Intra-Golgi traffic ⁶⁶	10.6	VPS45 STX16
5	Delta508-CFTR traffic / Sorting endosome formation in CF ²² Show member pathways Normal wtCFTR traffic / Sorting endosome formation ²²	10.21	VPS45 RBSN

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GO Terms for Severe Congenital Neutropenia 5

Cellular components related to Severe Congenital Neutropenia 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	9.7	VPS45 VAMP1 STX16 SLC37A4 SCN5A NUP210L
2	membrane	GO:0016021	9.7	VPS45 VAMP1 STX16 SLC37A4 SCN5A NUP210L

Biological processes related to Severe Congenital Neutropenia 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	vesicle-mediated transport	GO:0016192	9.8	VPS45 VAMP1 STX16 JAGN1
2	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.56	SCN5A HCN4
3	glucose-6-phosphate transport	GO:0015760	9.46	SLC37A4 G6PC3
4	membrane depolarization during SA node cell action potential	GO:0086046	9.26	SCN5A HCN4
5	SA node cell action potential	GO:0086015	8.92	SCN5A HCN4

Molecular functions related to Severe Congenital Neutropenia 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated sodium channel activity	GO:0005248	9.26	SCN5A HCN4
2	sodium channel activity	GO:0005272	8.62	SCN5A HCN4

Sources

Sources for Severe Congenital Neutropenia 5

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SCN5 MCID: SVR106 MIFTS: 37	Severe Congenital Neutropenia 5 (SCN5) Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
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Severe Congenital Neutropenia 5 (SCN5)

Aliases & Classifications for Severe Congenital Neutropenia 5

MalaCards integrated aliases for Severe Congenital Neutropenia 5:

Characteristics:

Inheritance:

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Age Of Onset:

Classifications:

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Summaries for Severe Congenital Neutropenia 5

Related Diseases for Severe Congenital Neutropenia 5

Diseases in the Neutropenia family:

Diseases related to Severe Congenital Neutropenia 5 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Severe Congenital Neutropenia 5:

Symptoms & Phenotypes for Severe Congenital Neutropenia 5

MGI Mouse Phenotypes related to Severe Congenital Neutropenia 5:

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Genes related to Severe Congenital Neutropenia 5 (2 elite genes):

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Pathways related to Severe Congenital Neutropenia 5 according to GeneCards Suite gene sharing:

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Cellular components related to Severe Congenital Neutropenia 5 according to GeneCards Suite gene sharing:

Biological processes related to Severe Congenital Neutropenia 5 according to GeneCards Suite gene sharing:

Molecular functions related to Severe Congenital Neutropenia 5 according to GeneCards Suite gene sharing:

Sources for Severe Congenital Neutropenia 5