Neutropenia, Severe Congenital, 4, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCN4 MCID: NTR050 MIFTS: 37	Neutropenia, Severe Congenital, 4, Autosomal Recessive (SCN4) 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 Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Neutropenia, Severe Congenital, 4, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 4, Autosomal Recessive:

Name: Neutropenia, Severe Congenital, 4, Autosomal Recessive ⁵⁷

Dursun Syndrome ⁵⁷ ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Scn4 ⁵⁷ ⁵⁸ ⁷³

Neutropenia, Severe Congenital 4, Autosomal Recessive ⁵⁷ ⁷³

Severe Congenital Neutropenia 4, Autosomal Recessive ²⁹ ⁶

Severe Congenital Neutropenia-Pulmonary Hypertension-Superficial Venous Angiectasis Syndrome ⁵⁸

Autosomal Recessive Severe Congenital Neutropenia Due to G6pc3 Deficiency ⁵⁸

Pulmonary Arterial Hypertension Leukopenia and Atrial Septal Defect ⁷³

Neutropenia, Severe Congenital, Type 4, Autosomal Recessive ³⁹

Neutropenia, Severe Congenital, Autosomal Recessive 4 ⁷¹

Severe Congenital Neutropenia Type 4 ⁵⁸

Durss ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

autosomal recessive severe congenital neutropenia due to g6pc3 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
sepsis, neonatal

HPO:

³¹

neutropenia, severe congenital, 4, autosomal recessive:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases
Anatomical: Blood diseases Respiratory diseases Cardiovascular diseases Neuronal diseases Bone diseases Immune diseases Nephrological 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 612541

OMIM Phenotypic Series ⁵⁷ PS202700

MeSH ⁴⁴ D009503

ICD10 via Orphanet ³³ D70

UMLS via Orphanet ⁷² C2675526

Orphanet ⁵⁸ ORPHA331176

MedGen ⁴¹ C2675526 C2751630

UMLS ⁷¹ C2675526 C2751630

Sources

Summaries for Neutropenia, Severe Congenital, 4, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷³ Dursun syndrome: A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia.
Neutropenia, severe congenital 4, autosomal recessive: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.

MalaCards based summary : Neutropenia, Severe Congenital, 4, Autosomal Recessive, also known as dursun syndrome, is related to severe congenital neutropenia 4 and varicose veins. An important gene associated with Neutropenia, Severe Congenital, 4, Autosomal Recessive is G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3). Affiliated tissues include neutrophil, bone marrow and bone, and related phenotypes are global developmental delay and hydronephrosis

More information from OMIM: 612541 PS202700

Sources

Related Diseases for Neutropenia, Severe Congenital, 4, 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, 4, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)

#	Related Disease	Score
1	severe congenital neutropenia 4	11.0
2	varicose veins	10.1
3	patent ductus arteriosus 1	10.1
4	hypothyroidism	10.1
5	thrombocytopenia	10.1
6	glycogen storage disease	10.1
7	learning disability	10.1
8	pulmonary hypertension	10.0
9	heart septal defect	10.0
10	atrial heart septal defect	10.0
11	albinism, oculocutaneous, type iv	9.9
12	alacrima, achalasia, and mental retardation syndrome	9.9
13	severe congenital neutropenia	9.9
14	oculocutaneous albinism	9.9
15	autosomal recessive disease	9.9
16	crohn's colitis	9.9
17	neutropenia	9.9
18	crohn's disease	9.9
19	albinism	9.9
20	g6pc3 deficiency	9.9

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

Sources

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Human phenotypes related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

³¹ (show all 34)

#	Description	HPO Frequency	HPO Source Accession
1	global developmental delay ³¹	occasional (7.5%)	HP:0001263
2	hydronephrosis ³¹	occasional (7.5%)	HP:0000126
3	failure to thrive ³¹		HP:0001508
4	high palate ³¹		HP:0000218
5	respiratory insufficiency ³¹		HP:0002093
6	hearing impairment ³¹		HP:0000365
7	splenomegaly ³¹		HP:0001744
8	hepatomegaly ³¹		HP:0002240
9	recurrent respiratory infections ³¹		HP:0002205
10	wide nasal bridge ³¹		HP:0000431
11	pectus carinatum ³¹		HP:0000768
12	microcephaly ³¹		HP:0000252
13	broad thumb ³¹		HP:0011304
14	anemia ³¹		HP:0001903
15	cleft palate ³¹		HP:0000175
16	cryptorchidism ³¹		HP:0000028
17	growth delay ³¹		HP:0001510
18	atrial septal defect ³¹		HP:0001631
19	thrombocytopenia ³¹		HP:0001873
20	mitral regurgitation ³¹		HP:0001653
21	lymphopenia ³¹		HP:0001888
22	patent ductus arteriosus ³¹		HP:0001643
23	hypoplasia of the thymus ³¹		HP:0000778
24	varicose veins ³¹		HP:0002619
25	pulmonic stenosis ³¹		HP:0001642
26	neutropenia ³¹		HP:0001875
27	sepsis ³¹		HP:0100806
28	pulmonary arterial hypertension ³¹		HP:0002092
29	single transverse palmar crease ³¹		HP:0000954
30	clinodactyly ³¹		HP:0030084
31	recurrent bacterial infections ³¹		HP:0002718
32	erythroid hypoplasia ³¹		HP:0012133
33	monocytosis ³¹		HP:0012311
34	cor triatriatum ³¹		HP:0010774

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Growth Other:
failure to thrive
poor growth

Abdomen Spleen:
splenomegaly

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Skin:
varicose veins
prominent superficial venous pattern
venous angiectasia
venous stasis ulcer

Skeletal Hands:
clinodactyly
broad thumbs
simian crease
proximal localization of thumb

Head And Neck Nose:
broad nasal bridge

Genitourinary Kidneys:
hydronephrosis (1 patient)
renal agenesis, unilateral (1 patient)

Head And Neck Ears:
hearing loss (reported in 2 patients)

Endocrine Features:
poor secondary sexual development (1 family)
delayed or incomplete puberty (1 family)
increased serum tsh (2 patients)

Respiratory:
respiratory insufficiency
recurrent respiratory infections

Abdomen Liver:
hepatomegaly

Hematology:
anemia
thrombocytopenia
lymphopenia
neutropenia
leukopenia
more

Cardiovascular Vascular:
patent ductus arteriosus
pulmonary arterial hypertension (in 3 patients)

Immunology:
neutropenia
thymus hypoplasia
increased susceptibility to bacterial infections
few mature neutrophils in the bone marrow

Cardiovascular Heart:
cor triatriatum
pulmonary valve stenosis
atrial septal defect, secundum type
mitral insufficiency

Head And Neck Mouth:
high-arched palate
cleft palate (reported in 1 patient)

Head And Neck Head:
microcephaly (reported in 2 patients)

Neurologic Central Nervous System:
delayed development (1 family)
learning disabilities (1 family)

Clinical features from OMIM®:

612541 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Neutropenia, Severe Congenital, 4, Autosomal Recessive

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

Sources

Genetic Tests for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Genetic tests related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Dursun Syndrome ²⁹
2	Severe Congenital Neutropenia 4, Autosomal Recessive ²⁹	G6PC3

Sources

Anatomical Context for Neutropenia, Severe Congenital, 4, Autosomal Recessive

MalaCards organs/tissues related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

⁴⁰

Neutrophil, Bone Marrow, Bone, Thymus, Myeloid

Sources

Publications for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Articles related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

#	Title	Authors	PMID	Year
1	Mutations in the G6PC3 gene cause Dursun syndrome. ⁶¹ ⁶ ⁵⁷	Banka S...Dursun A	20799326	2010
2	Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. ⁵⁷ ⁶	Banka S...Shalev S	20717171	2011
3	Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. ⁵⁷ ⁶	McDermott DH...Murphy PM	20616219	2010
4	Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. ⁶ ⁵⁷	Dursun A...Morse JH	19011569	2009
5	A syndrome with congenital neutropenia and mutations in G6PC3. ⁶ ⁵⁷	Boztug K...Klein C	19118303	2009
6	Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency. ⁵⁷	Veiga-da-Cunha M...Van Schaftingen E	30626647	2019
7	A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. ⁵⁷	Arostegui JI...Diaz de Heredia C	19696212	2009
8	G6PC3 Deficiency ⁶¹	Banka S	25879134	2015
9	Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines. ⁶¹	Ozgul RK...Dursun A	24549407	2014
10	A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. ⁶¹	Banka S...Newman WG	23758768	2013

Sources

Genes for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Genes related to Neutropenia, Severe Congenital, 4, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	G6PC3	Glucose-6-Phosphatase Catalytic Subunit 3	Protein Coding	1693.82	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)

Sources

Variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive:

⁶ (show top 50) (show all 93)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	G6PC3	NM_138387.3(G6PC3):c.207dup (p.Ile70fs)	Duplication	Pathogenic	691992	rs1191239079	17:42148539-42148540	17:44071171-44071172
2	G6PC3	NM_138387.3(G6PC3):c.199_218+1del	Deletion	Pathogenic	691994	rs1597905369	17:42148527-42148547	17:44071159-44071179
3	G6PC3	NM_001319945.2(G6PC3):c.416+246del	Deletion	Pathogenic	935219		17:42152381-42152381	17:44075013-44075013
4	G6PC3	NM_138387.3(G6PC3):c.130C>T (p.Pro44Ser)	SNV	Pathogenic	189781	rs775224457	17:42148463-42148463	17:44071095-44071095
5	G6PC3	NM_138387.3(G6PC3):c.829C>T (p.Gln277Ter)	SNV	Pathogenic	189783	rs148559256	17:42153199-42153199	17:44075831-44075831
6	G6PC3	NM_138387.3(G6PC3):c.554T>C (p.Leu185Pro)	SNV	Pathogenic	1038	rs118203969	17:42152696-42152696	17:44075328-44075328
7	G6PC3	NM_138387.3(G6PC3):c.141C>G (p.Tyr47Ter)	SNV	Pathogenic	1039	rs118203970	17:42148474-42148474	17:44071106-44071106
8	G6PC3	NM_001319945.2(G6PC3):c.*77G>C	SNV	Pathogenic	1040	rs118203971	17:42153154-42153154	17:44075786-44075786
9	G6PC3	G6PC3, 1-BP DUP, 935T	Duplication	Pathogenic	1041
10	G6PC3	NM_138387.3(G6PC3):c.346A>G (p.Met116Val)	SNV	Pathogenic	1042	rs267606834	17:42152068-42152068	17:44074700-44074700
11	G6PC3	NM_138387.3(G6PC3):c.565C>T (p.Arg189Ter)	SNV	Pathogenic	653016	rs745582203	17:42152707-42152707	17:44075339-44075339
12	G6PC3	NM_138387.3(G6PC3):c.758G>A (p.Arg253His)	SNV	Pathogenic	1037	rs118203968	17:42153128-42153128	17:44075760-44075760
13	G6PC3	NM_001319945.2(G6PC3):c.210del (p.Phe71fs)	Deletion	Pathogenic	189782	rs769441127	17:42148543-42148543	17:44071175-44071175
14	G6PC3	NM_001319945.2(G6PC3):c.*228dup	Duplication	Pathogenic	189784	rs797044567	17:42153301-42153302	17:44075933-44075934
15	G6PC3	NM_138387.3(G6PC3):c.144C>G (p.Tyr48Ter)	SNV	Likely pathogenic	632283	rs1194477276	17:42148477-42148477	17:44071109-44071109
16	G6PC3	NM_138387.3(G6PC3):c.778G>C (p.Gly260Arg)	SNV	Conflicting interpretations of pathogenicity	30874	rs200478425	17:42153148-42153148	17:44075780-44075780
17	G6PC3	NM_138387.3(G6PC3):c.201C>T (p.Leu67=)	SNV	Conflicting interpretations of pathogenicity	323461	rs375273894	17:42148534-42148534	17:44071166-44071166
18	G6PC3	NM_138387.3(G6PC3):c.407G>A (p.Arg136Gln)	SNV	Uncertain significance	323465	rs200050824	17:42152129-42152129	17:44074761-44074761
19	G6PC3	NM_138387.3(G6PC3):c.580C>T (p.Arg194Trp)	SNV	Uncertain significance	569633	rs748638373	17:42152722-42152722	17:44075354-44075354
20	G6PC3	NM_138387.3(G6PC3):c.800C>G (p.Ser267Cys)	SNV	Uncertain significance	570187	rs201700844	17:42153170-42153170	17:44075802-44075802
21	G6PC3	NM_138387.3(G6PC3):c.821G>A (p.Arg274His)	SNV	Uncertain significance	571605	rs773183765	17:42153191-42153191	17:44075823-44075823
22	G6PC3	NM_138387.3(G6PC3):c.50A>C (p.Asn17Thr)	SNV	Uncertain significance	576699	rs375162061	17:42148383-42148383	17:44071015-44071015
23	G6PC3	NM_138387.3(G6PC3):c.709C>T (p.Arg237Trp)	SNV	Uncertain significance	576731	rs763307095	17:42153079-42153079	17:44075711-44075711
24	G6PC3	NM_138387.3(G6PC3):c.982G>A (p.Val328Met)	SNV	Uncertain significance	582332	rs1052762189	17:42153352-42153352	17:44075984-44075984
25	G6PC3	NM_138387.3(G6PC3):c.938A>G (p.Asn313Ser)	SNV	Uncertain significance	639944	rs202163545	17:42153308-42153308	17:44075940-44075940
26	G6PC3	NM_138387.3(G6PC3):c.406C>T (p.Arg136Trp)	SNV	Uncertain significance	323464	rs138557340	17:42152128-42152128	17:44074760-44074760
27	G6PC3	NM_138387.3(G6PC3):c.727G>A (p.Val243Met)	SNV	Uncertain significance	323469	rs140785361	17:42153097-42153097	17:44075729-44075729
28	G6PC3	NM_138387.3(G6PC3):c.574A>G (p.Met192Val)	SNV	Uncertain significance	647728	rs774843962	17:42152716-42152716	17:44075348-44075348
29	G6PC3	NM_138387.3(G6PC3):c.479C>T (p.Ser160Leu)	SNV	Uncertain significance	651897	rs911423195	17:42152399-42152399	17:44075031-44075031
30	G6PC3	NM_138387.3(G6PC3):c.31A>G (p.Ile11Val)	SNV	Uncertain significance	652746	rs1597905158	17:42148364-42148364	17:44070996-44070996
31	G6PC3	NM_138387.3(G6PC3):c.674C>G (p.Ser225Cys)	SNV	Uncertain significance	654078	rs748442084	17:42152816-42152816	17:44075448-44075448
32	G6PC3	NM_138387.3(G6PC3):c.883G>T (p.Gly295Cys)	SNV	Uncertain significance	656149	rs202238577	17:42153253-42153253	17:44075885-44075885
33	G6PC3	NM_138387.3(G6PC3):c.1006A>C (p.Ser336Arg)	SNV	Uncertain significance	656260	rs141431274	17:42153376-42153376	17:44076008-44076008
34	G6PC3	NM_138387.3(G6PC3):c.376A>G (p.Met126Val)	SNV	Uncertain significance	663027	rs1597908497	17:42152098-42152098	17:44074730-44074730
35	G6PC3	NM_138387.3(G6PC3):c.10A>G (p.Thr4Ala)	SNV	Uncertain significance	665433	rs946155355	17:42148343-42148343	17:44070975-44070975
36	G6PC3	NM_001319945.2(G6PC3):c.101A>T (p.Asp34Val)	SNV	Uncertain significance	976228		17:42148434-42148434	17:44071066-44071066
37	G6PC3	NM_138387.3(G6PC3):c.219-13T>C	SNV	Uncertain significance	323462	rs773122600	17:42151515-42151515	17:44074147-44074147
38	G6PC3	NM_138387.3(G6PC3):c.-164G>A	SNV	Uncertain significance	323456	rs886052985	17:42148170-42148170	17:44070802-44070802
39	G6PC3	NM_138387.3(G6PC3):c.377T>C (p.Met126Thr)	SNV	Uncertain significance	323463	rs886052986	17:42152099-42152099	17:44074731-44074731
40	G6PC3	NM_138387.3(G6PC3):c.-162G>A	SNV	Uncertain significance	323457	rs536609615	17:42148172-42148172	17:44070804-44070804
41	G6PC3	NM_138387.3(G6PC3):c.187A>G (p.Ile63Val)	SNV	Uncertain significance	323460	rs34878178	17:42148520-42148520	17:44071152-44071152
42	G6PC3	NM_138387.3(G6PC3):c.668A>C (p.Asp223Ala)	SNV	Uncertain significance	323468	rs779584053	17:42152810-42152810	17:44075442-44075442
43	G6PC3	NM_138387.3(G6PC3):c.*234C>G	SNV	Uncertain significance	323473	rs763555878	17:42153645-42153645	17:44076277-44076277
44	G6PC3	NM_138387.3(G6PC3):c.419G>A (p.Arg140His)	SNV	Uncertain significance	537188	rs989437299	17:42152339-42152339	17:44074971-44074971
45	G6PC3	NM_138387.3(G6PC3):c.-155T>A	SNV	Uncertain significance	891208		17:42148179-42148179	17:44070811-44070811
46	G6PC3	NM_138387.3(G6PC3):c.677+7C>T	SNV	Uncertain significance	626109	rs1045392209	17:42152826-42152826	17:44075458-44075458
47	G6PC3	NM_001319945.2(G6PC3):c.501T>C (p.His167=)	SNV	Uncertain significance	936499		17:42152762-42152762	17:44075394-44075394
48	G6PC3	NM_001319945.2(G6PC3):c.*305C>T	SNV	Uncertain significance	937049		17:42153382-42153382	17:44076014-44076014
49	G6PC3	NM_001319945.2(G6PC3):c.*28C>A	SNV	Uncertain significance	938673		17:42153105-42153105	17:44075737-44075737
50	G6PC3	NM_001319945.2(G6PC3):c.*288T>G	SNV	Uncertain significance	944847		17:42153365-42153365	17:44075997-44075997

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive:

⁷³ (show all 20)

#	Symbol	AA change	Variation ID	SNP ID
1	G6PC3	p.Leu185Pro	VAR_055156	rs118203969
2	G6PC3	p.Arg253His	VAR_055157	rs118203968
3	G6PC3	p.Gly262Arg	VAR_055158	rs118203971
4	G6PC3	p.Met116Lys	VAR_064508
5	G6PC3	p.Met116Val	VAR_064509	rs267606834
6	G6PC3	p.Arg189Gln	VAR_064510	rs140294222
7	G6PC3	p.Gly260Arg	VAR_064511	rs200478425
8	G6PC3	p.Pro44Ser	VAR_072753	rs775224457
9	G6PC3	p.Trp59Arg	VAR_072754	rs752966267
10	G6PC3	p.Met116Thr	VAR_072756
11	G6PC3	p.Ser139Ile	VAR_072757
12	G6PC3	p.Leu154Pro	VAR_072758
13	G6PC3	p.Leu208Arg	VAR_072759
14	G6PC3	p.Gly260Asp	VAR_072760
15	G6PC3	p.Leu325Arg	VAR_072761
16	G6PC3	p.Pro44Leu	VAR_073174	rs762019955
17	G6PC3	p.Met116Ile	VAR_073175	rs137386522
18	G6PC3	p.Thr118Arg	VAR_073176	rs766706036
19	G6PC3	p.Arg161Gln	VAR_073177	rs148507320
20	G6PC3	p.Arg253Cys	VAR_073178	rs765927570

Sources

Expression for Neutropenia, Severe Congenital, 4, Autosomal Recessive

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

Sources

Pathways for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Sources

GO Terms for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Sources

Sources for Neutropenia, Severe Congenital, 4, 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 05-Mar-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 TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Neutropenia, Severe Congenital, 4, Autosomal Recessive (SCN4)

Aliases & Classifications for Neutropenia, Severe Congenital, 4, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 4, Autosomal Recessive:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Related Diseases for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Diseases in the Neutropenia family:

Diseases related to Neutropenia, Severe Congenital, 4, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Human phenotypes related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Genetic Tests for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Genetic tests related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

Anatomical Context for Neutropenia, Severe Congenital, 4, Autosomal Recessive

MalaCards organs/tissues related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

Publications for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Articles related to Neutropenia, Severe Congenital, 4, Autosomal Recessive:

Genes for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Genes related to Neutropenia, Severe Congenital, 4, Autosomal Recessive (1 elite genes):

Variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive:

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive:

Expression for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Pathways for Neutropenia, Severe Congenital, 4, Autosomal Recessive

GO Terms for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Sources for Neutropenia, Severe Congenital, 4, Autosomal Recessive