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

SCN5 MCID: NTR031 MIFTS: 36	Neutropenia, Severe Congenital, 5, Autosomal Recessive (SCN5) Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Neutropenia, Severe Congenital, 5, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Name: Neutropenia, Severe Congenital, 5, Autosomal Recessive ⁵⁷ ⁷⁰

Severe Congenital Neutropenia 5, Autosomal Recessive ²⁹ ⁶

Scn5 ⁵⁷ ⁷²

Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome ⁵⁸

Neutropenia, Congenital, Severe, Type 5, Autosomal Recessive ³⁹

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome ⁵⁸

Neutropenia, Severe Congenital 5, Autosomal Recessive ⁷²

Vps45 Deficiency ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

congenital neutropenia-myelofibrosis-nephromegaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death from infection may occur

HPO:

³¹

neutropenia, severe congenital, 5, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

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:

OMIM® ⁵⁷ 615285

OMIM Phenotypic Series ⁵⁷ PS202700

MeSH ⁴⁴ D007153 D009503

ICD10 via Orphanet ³³ D70

Orphanet ⁵⁸ ORPHA369852

MedGen ⁴¹ C3809031 CN177969

SNOMED-CT via HPO ⁶⁸ 124958002 127388009 129646001 more

UMLS ⁷⁰ C3809031

Sources

Summaries for Neutropenia, Severe Congenital, 5, Autosomal Recessive

OMIM® : ⁵⁷ Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis (summary by Vilboux et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). (615285) (Updated 20-May-2021)

MalaCards based summary : Neutropenia, Severe Congenital, 5, Autosomal Recessive, also known as severe congenital neutropenia 5, autosomal recessive, is related to severe congenital neutropenia 5 and severe congenital neutropenia. An important gene associated with Neutropenia, Severe Congenital, 5, Autosomal Recessive is VPS45 (Vacuolar Protein Sorting 45 Homolog), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Delta508-CFTR traffic / ER-to-Golgi in CF. Affiliated tissues include bone marrow, neutrophil and bone, and related phenotypes are global developmental delay and failure to thrive

UniProtKB/Swiss-Prot : ⁷² Neutropenia, severe congenital 5, autosomal recessive: An autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis.

Sources

Related Diseases for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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

#	Related Disease	Score
1	severe congenital neutropenia 5	11.0
2	severe congenital neutropenia	10.0
3	neutropenia	10.0

Sources

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Human phenotypes related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

³¹ (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	global developmental delay ³¹	occasional (7.5%)	HP:0001263
2	failure to thrive ³¹		HP:0001508
3	splenomegaly ³¹		HP:0001744
4	hepatomegaly ³¹		HP:0002240
5	anemia ³¹		HP:0001903
6	thrombocytopenia ³¹		HP:0001873
7	neutropenia ³¹		HP:0001875
8	recurrent infections ³¹		HP:0002719
9	leukopenia ³¹		HP:0001882
10	extramedullary hematopoiesis ³¹		HP:0001978
11	increased circulating antibody level ³¹		HP:0010702

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Abdomen Spleen:
splenomegaly

Hematology:
anemia
thrombocytopenia
extramedullary hematopoiesis
nucleated red cells in peripheral blood
bone marrow fibrosis
more

Growth Weight:
poor weight gain

Neurologic Central Nervous System:
delayed psychomotor development (in 1 family)

Abdomen Liver:
hepatomegaly

Immunology:
neutropenia
leukopenia
hypergammaglobulinemia
recurrent infections, bacterial and fungal
neutrophil dysfunction

Genitourinary Kidneys:
enlarged kidneys due to extramedullary hematopoiesis

Clinical features from OMIM®:

615285 (Updated 20-May-2021)

Sources

Drugs & Therapeutics for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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

Sources

Genetic Tests for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Genetic tests related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Severe Congenital Neutropenia 5, Autosomal Recessive ²⁹	VPS45

Sources

Anatomical Context for Neutropenia, Severe Congenital, 5, Autosomal Recessive

MalaCards organs/tissues related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

⁴⁰

Bone Marrow, Neutrophil, Bone, Cortex, Cardiac Myocytes

Sources

Publications for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Articles related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

#	Title	Authors	PMID	Year
1	A congenital neutrophil defect syndrome associated with mutations in VPS45. ⁵⁷ ⁶	Vilboux T...Somech R	23738510	2013
2	The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. ⁶ ⁵⁷	Stepensky P...Mevorach D	23599270	2013
3	[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]. ⁶¹	Na Z...Zhi-Yong LI	33350198	2020
4	Periodontal Disease in Two Siblings with VPS45-associated Severe Congenital Neutropenia Type V: A Case Report. ⁶¹	Alotaibi FA...Albarkheel AI	33623350	2020
5	Preparation and characterization of chemically TEMPO-oxidized and mechanically disintegrated sacchachitin nanofibers (SCNF) for enhanced diabetic wound healing. ⁶¹	Chao FC...Sheu MT	31826505	2020
6	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	Negussie E...Lidauer MH	31155258	2019
7	[Adverse reactions analysis of Aconiti Lateralis Radix Praeparata and mechanism prediction of cardiac toxicity by network pharmacology]. ⁶¹	He J...Gao R	30989863	2019
8	Effects of seasonal acclimatization on thermal tolerance of inward currents in roach (Rutilus rutilus) cardiac myocytes. ⁶¹	Badr A...Vornanen M	28942482	2018
9	Direct activation of the Mauthner cell by electric field pulses drives ultrarapid escape responses. ⁶¹	Tabor KM...Burgess HA	24848468	2014

Sources

Genes for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	VPS45	Vacuolar Protein Sorting 45 Homolog	Protein Coding	1667.13	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23738510 23599270
2	RBSN	Rabenosyn, RAB Effector	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	29784638

Sources

Variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

⁶ (show top 50) (show all 103)

#	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	Pathogenic	55907	rs782269909	GRCh37: 1:150053448-150053448 GRCh38: 1:150081366-150081366
3	VPS45	NM_007259.5(VPS45):c.1140_1141insC (p.Glu381fs)	Insertion	Pathogenic	1029150		GRCh37: 1:150064066-150064067 GRCh38: 1:150091972-150091973
4	VPS45	NM_007259.5(VPS45):c.223A>G (p.Thr75Ala)	SNV	Uncertain significance	1029151		GRCh37: 1:150040816-150040816 GRCh38: 1:150068759-150068759
5	VPS45	NM_007259.5(VPS45):c.898A>G (p.Lys300Glu)	SNV	Uncertain significance	1039732		GRCh37: 1:150054041-150054041 GRCh38: 1:150081959-150081959
6	VPS45	NM_007259.5(VPS45):c.1157G>A (p.Arg386His)	SNV	Uncertain significance	1040041		GRCh37: 1:150064083-150064083 GRCh38: 1:150091989-150091989
7	VPS45	NM_007259.5(VPS45):c.123A>G (p.Gln41=)	SNV	Uncertain significance	1044433		GRCh37: 1:150040716-150040716 GRCh38: 1:150068659-150068659
8	VPS45	NM_007259.5(VPS45):c.192A>T (p.Lys64Asn)	SNV	Uncertain significance	651412	rs1441537795	GRCh37: 1:150040785-150040785 GRCh38: 1:150068728-150068728
9	VPS45	NM_007259.5(VPS45):c.1481C>T (p.Thr494Ile)	SNV	Uncertain significance	853448		GRCh37: 1:150065732-150065732 GRCh38: 1:150093636-150093636
10	VPS45	NM_007259.5(VPS45):c.693_694AT[1] (p.Tyr232fs)	Microsatellite	Uncertain significance	864158		GRCh37: 1:150053429-150053430 GRCh38: 1:150081347-150081348
11	VPS45	NM_007259.5(VPS45):c.1516G>A (p.Val506Ile)	SNV	Uncertain significance	1064193		GRCh37: 1:150082633-150082633 GRCh38: 1:150110518-150110518
12	VPS45	NM_007259.5(VPS45):c.614G>A (p.Arg205His)	SNV	Uncertain significance	474245	rs146660821	GRCh37: 1:150049784-150049784 GRCh38: 1:150077706-150077706
13	VPS45	NM_007259.5(VPS45):c.260G>A (p.Arg87Gln)	SNV	Uncertain significance	973738		GRCh37: 1:150044264-150044264 GRCh38: 1:150072197-150072197
14	VPS45	NM_007259.5(VPS45):c.1676G>C (p.Ser559Thr)	SNV	Uncertain significance	864694		GRCh37: 1:150116937-150116937 GRCh38: 1:150144759-150144759
15	VPS45	NM_007259.5(VPS45):c.1567C>T (p.Arg523Cys)	SNV	Uncertain significance	841086		GRCh37: 1:150082684-150082684 GRCh38: 1:150110569-150110569
16	VPS45	NM_007259.5(VPS45):c.1018C>T (p.Arg340Ter)	SNV	Uncertain significance	835122		GRCh37: 1:150054881-150054881 GRCh38: 1:150082797-150082797
17	VPS45	NM_007259.5(VPS45):c.1626-4T>G	SNV	Uncertain significance	653424	rs1327671540	GRCh37: 1:150116883-150116883 GRCh38: 1:150144705-150144705
18	VPS45	NM_007259.5(VPS45):c.1294A>C (p.Lys432Gln)	SNV	Uncertain significance	645285	rs1571849671	GRCh37: 1:150064426-150064426 GRCh38: 1:150092332-150092332
19	VPS45	NM_007259.5(VPS45):c.571G>A (p.Val191Ile)	SNV	Uncertain significance	642887	rs200783288	GRCh37: 1:150049304-150049304 GRCh38: 1:150077226-150077226
20	VPS45	NM_007259.5(VPS45):c.1418C>A (p.Thr473Asn)	SNV	Uncertain significance	577348	rs1553802469	GRCh37: 1:150065669-150065669 GRCh38: 1:150093573-150093573
21	VPS45	NM_007259.5(VPS45):c.1442G>A (p.Arg481Lys)	SNV	Uncertain significance	541272	rs151292369	GRCh37: 1:150065693-150065693 GRCh38: 1:150093597-150093597
22	VPS45	NM_007259.5(VPS45):c.299A>G (p.Asn100Ser)	SNV	Uncertain significance	541271	rs139341274	GRCh37: 1:150048320-150048320 GRCh38: 1:150076242-150076242
23	VPS45	NM_007259.5(VPS45):c.514T>C (p.Cys172Arg)	SNV	Uncertain significance	541270	rs191692092	GRCh37: 1:150049247-150049247 GRCh38: 1:150077169-150077169
24	VPS45	NM_007259.5(VPS45):c.718C>G (p.Leu240Val)	SNV	Uncertain significance	474246	rs587716374	GRCh37: 1:150053454-150053454 GRCh38: 1:150081372-150081372
25	VPS45	NM_007259.5(VPS45):c.1700C>T (p.Ala567Val)	SNV	Uncertain significance	991401		GRCh37: 1:150116961-150116961 GRCh38: 1:150144783-150144783
26	VPS45	NM_007259.5(VPS45):c.1181A>G (p.His394Arg)	SNV	Uncertain significance	991400		GRCh37: 1:150064107-150064107 GRCh38: 1:150092013-150092013
27	VPS45	NM_007259.5(VPS45):c.1133A>G (p.Lys378Arg)	SNV	Uncertain significance	991399		GRCh37: 1:150064059-150064059 GRCh38: 1:150091965-150091965
28	VPS45	NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp)	SNV	Uncertain significance	991398		GRCh37: 1:150054896-150054896 GRCh38: 1:150082812-150082812
29	VPS45	NM_007259.5(VPS45):c.739A>G (p.Ile247Val)	SNV	Uncertain significance	991397		GRCh37: 1:150053475-150053475 GRCh38: 1:150081393-150081393
30	VPS45	NM_007259.5(VPS45):c.462G>A (p.Gln154=)	SNV	Uncertain significance	991396		GRCh37: 1:150049195-150049195 GRCh38: 1:150077117-150077117
31	VPS45	NM_007259.5(VPS45):c.390T>C (p.Ile130=)	SNV	Uncertain significance	991393		GRCh37: 1:150049014-150049014 GRCh38: 1:150076936-150076936
32	VPS45	NM_007259.5(VPS45):c.353T>G (p.Val118Gly)	SNV	Uncertain significance	991392		GRCh37: 1:150048374-150048374 GRCh38: 1:150076296-150076296
33	VPS45	NM_007259.5(VPS45):c.173A>G (p.Gln58Arg)	SNV	Uncertain significance	991391		GRCh37: 1:150040766-150040766 GRCh38: 1:150068709-150068709
34	VPS45	NM_007259.5(VPS45):c.-4C>T	SNV	Uncertain significance	991390		GRCh37: 1:150039911-150039911 GRCh38: 1:150067854-150067854
35	VPS45	NM_007259.5(VPS45):c.1371+5A>G	SNV	Uncertain significance	647131	rs369221126	GRCh37: 1:150064508-150064508 GRCh38: 1:150092414-150092414
36	VPS45	NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln)	SNV	Uncertain significance	647655	rs142968690	GRCh37: 1:150116925-150116925 GRCh38: 1:150144747-150144747
37	VPS45	NM_007259.5(VPS45):c.785T>C (p.Val262Ala)	SNV	Uncertain significance	651262	rs148174305	GRCh37: 1:150053521-150053521 GRCh38: 1:150081439-150081439
38	VPS45	NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr)	SNV	Uncertain significance	658240	rs782059726	GRCh37: 1:150064100-150064100 GRCh38: 1:150092006-150092006
39	VPS45	NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln)	SNV	Uncertain significance	665526	rs373735080	GRCh37: 1:150064116-150064116 GRCh38: 1:150092022-150092022
40	VPS45	NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys)	SNV	Uncertain significance	626050	rs782797599	GRCh37: 1:150082652-150082652 GRCh38: 1:150110537-150110537
41	VPS45	NM_007259.5(VPS45):c.319G>A (p.Val107Met)	SNV	Uncertain significance	639607	rs782553177	GRCh37: 1:150048340-150048340 GRCh38: 1:150076262-150076262
42	VPS45	NM_007259.5(VPS45):c.167A>G (p.Asp56Gly)	SNV	Uncertain significance	659684	rs1278390607	GRCh37: 1:150040760-150040760 GRCh38: 1:150068703-150068703
43	VPS45	NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr)	SNV	Uncertain significance	659879	rs782358688	GRCh37: 1:150040763-150040763 GRCh38: 1:150068706-150068706
44	VPS45	NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser)	SNV	Uncertain significance	661964	rs368347807	GRCh37: 1:150049766-150049766 GRCh38: 1:150077688-150077688
45	VPS45	NM_007259.5(VPS45):c.1538A>G (p.Glu513Gly)	SNV	Uncertain significance	665696	rs1571879434	GRCh37: 1:150082655-150082655 GRCh38: 1:150110540-150110540
46	VPS45	NM_007259.5(VPS45):c.526C>T (p.Arg176Cys)	SNV	Uncertain significance	853326		GRCh37: 1:150049259-150049259 GRCh38: 1:150077181-150077181
47	VPS45	NM_007259.5(VPS45):c.617G>A (p.Arg206Gln)	SNV	Uncertain significance	952644		GRCh37: 1:150049787-150049787 GRCh38: 1:150077709-150077709
48	VPS45	NM_007259.5(VPS45):c.687G>C (p.Gln229His)	SNV	Uncertain significance	966855		GRCh37: 1:150049857-150049857 GRCh38: 1:150077779-150077779
49	VPS45	NM_007259.5(VPS45):c.580G>A (p.Val194Met)	SNV	Uncertain significance	970136		GRCh37: 1:150049750-150049750 GRCh38: 1:150077672-150077672
50	VPS45	NM_007259.5(VPS45):c.1019G>A (p.Arg340Gln)	SNV	Uncertain significance	971734		GRCh37: 1:150054882-150054882 GRCh38: 1:150082798-150082798

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	VPS45	p.Thr224Asn	VAR_069865	rs879255237
2	VPS45	p.Glu238Lys	VAR_069866	rs782269909

Sources

Expression for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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

Sources

Pathways for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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

#	Super pathways	Score	Top Affiliating Genes
1	Response to elevated platelet cytosolic Ca2+ ⁶⁵ Show member pathways Disinhibition of SNARE formation ⁶⁵ Hemostasis ⁶⁵ Platelet activation, signaling and aggregation ⁶⁵ Platelet degranulation ⁶⁵	12.4	VPS45 RBSN
2	Delta508-CFTR traffic / ER-to-Golgi in CF ²³ Show member pathways Normal wtCFTR traffic / ER-to-Golgi ²³ RHO GTPases regulate CFTR trafficking ⁶⁵ Transport Clathrin-coated vesicle cycle ²³ wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF) ²³ wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) ²³	11.68	VPS45 RBSN
3	Endocytosis ³⁶	11.56	VPS45 RBSN
4	Factors involved in megakaryocyte development and platelet production ⁶⁵	11.15	VPS45 RBSN
5	Delta508-CFTR traffic / Sorting endosome formation in CF ²³ Show member pathways Normal wtCFTR traffic / Sorting endosome formation ²³	10.21	VPS45 RBSN

Sources

GO Terms for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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

#	Name	GO ID	Score	Top Affiliating Genes
1	endosome	GO:0005768	8.96	VPS45 RBSN
2	endosome membrane	GO:0010008	8.62	VPS45 RBSN

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein transport	GO:0015031	8.96	VPS45 RBSN
2	blood coagulation	GO:0007596	8.62	VPS45 RBSN

Sources

Sources for Neutropenia, Severe Congenital, 5, Autosomal Recessive

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Neutropenia, Severe Congenital, 5, Autosomal Recessive (SCN5)

Aliases & Classifications for Neutropenia, Severe Congenital, 5, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Related Diseases for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Diseases in the Neutropenia family:

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

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Human phenotypes related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Genetic Tests for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Genetic tests related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Anatomical Context for Neutropenia, Severe Congenital, 5, Autosomal Recessive

MalaCards organs/tissues related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Publications for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Articles related to Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Genes for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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

Variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 5, Autosomal Recessive:

Expression for Neutropenia, Severe Congenital, 5, Autosomal Recessive

Pathways for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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

GO Terms for Neutropenia, Severe Congenital, 5, Autosomal Recessive

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

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

Sources for Neutropenia, Severe Congenital, 5, Autosomal Recessive