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

SCN4 MCID: NTR050 MIFTS: 36	Neutropenia, Severe Congenital, 4, Autosomal Recessive (SCN4) Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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 ⁵⁶

Dursun Syndrome ⁵⁶ ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Scn4 ⁵⁶ ⁵⁸ ⁷³

Neutropenia, Severe Congenital 4, Autosomal Recessive ⁵⁶ 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:

⁵⁶

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 Cancer diseases
Anatomical: Blood diseases Neuronal diseases Bone diseases Immune 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 ⁵⁶ 612541

OMIM Phenotypic Series ⁵⁶ PS202700

MeSH ⁴³ D009503

ICD10 via Orphanet ³³ D70

UMLS via Orphanet ⁷² C2675526

Orphanet ⁵⁸ ORPHA331176

MedGen ⁴¹ C2675526 C2751630

UMLS ⁷¹ C2675526 C2751630

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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 albinism, oculocutaneous, type iv and alacrima, achalasia, and mental retardation syndrome. 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

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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	Elane-Related Neutropenia
Severe Congenital Neutropenia Autosomal Dominant	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 19)

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

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

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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	hearing impairment ³¹		HP:0000365
4	splenomegaly ³¹		HP:0001744
5	hepatomegaly ³¹		HP:0002240
6	recurrent respiratory infections ³¹		HP:0002205
7	wide nasal bridge ³¹		HP:0000431
8	pectus carinatum ³¹		HP:0000768
9	microcephaly ³¹		HP:0000252
10	broad thumb ³¹		HP:0011304
11	failure to thrive ³¹		HP:0001508
12	anemia ³¹		HP:0001903
13	cleft palate ³¹		HP:0000175
14	pulmonary arterial hypertension ³¹		HP:0002092
15	cryptorchidism ³¹		HP:0000028
16	growth delay ³¹		HP:0001510
17	high palate ³¹		HP:0000218
18	atrial septal defect ³¹		HP:0001631
19	respiratory insufficiency ³¹		HP:0002093
20	thrombocytopenia ³¹		HP:0001873
21	mitral regurgitation ³¹		HP:0001653
22	lymphopenia ³¹		HP:0001888
23	patent ductus arteriosus ³¹		HP:0001643
24	hypoplasia of the thymus ³¹		HP:0000778
25	varicose veins ³¹		HP:0002619
26	pulmonic stenosis ³¹		HP:0001642
27	neutropenia ³¹		HP:0001875
28	sepsis ³¹		HP:0100806
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:

⁵⁶

Abdomen Spleen:
splenomegaly

Respiratory:
recurrent respiratory infections
respiratory insufficiency

Growth Other:
failure to thrive
poor growth

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)

Abdomen Liver:
hepatomegaly

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

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

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

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

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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

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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

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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. ⁶ ⁶¹ ⁵⁶	Banka S...Dursun A	20799326	2010
2	Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. ⁵⁶ ⁶	Banka S...Shalev S	20717171	2011
3	Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. ⁶ ⁵⁶	McDermott DH...Murphy PM	20616219	2010
4	A syndrome with congenital neutropenia and mutations in G6PC3. ⁵⁶ ⁶	Boztug K...Klein C	19118303	2009
5	Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. ⁶ ⁵⁶	Dursun A...Morse JH	19011569	2009
6	G6PC3 Deficiency ⁶¹ ⁶	Banka S	25879134	2015
7	A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. ⁵⁶	Arostegui JI...Diaz de Heredia C	19696212	2009
8	Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines. ⁶¹	Ozgul RK...Dursun A	24549407	2014
9	A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. ⁶¹	Banka S...Newman WG	23758768	2013

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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	PubmedIds
1	G6PC3	Glucose-6-Phosphatase Catalytic Subunit 3	Protein Coding	1669.13	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25879134 20799326 19118303 (more) 20616219 20717171 19011569

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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 76) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	G6PC3	NM_138387.3(G6PC3):c.565C>T (p.Arg189Ter)	SNV	Pathogenic	653016		17:42152707-42152707	17:44075339-44075339
2	G6PC3	NM_138387.3(G6PC3):c.207dup (p.Ile70fs)	duplication	Pathogenic	691992		17:42148539-42148540	17:44071171-44071172
3	G6PC3	NM_138387.3(G6PC3):c.199_218+1del	deletion	Pathogenic	691994		17:42148527-42148547	17:44071159-44071179
4	G6PC3	NM_138387.3(G6PC3):c.758G>A (p.Arg253His)	SNV	Pathogenic	1037	rs118203968	17:42153128-42153128	17:44075760-44075760
5	G6PC3	NM_138387.3(G6PC3):c.554T>C (p.Leu185Pro)	SNV	Pathogenic	1038	rs118203969	17:42152696-42152696	17:44075328-44075328
6	G6PC3	NM_138387.3(G6PC3):c.141C>G (p.Tyr47Ter)	SNV	Pathogenic	1039	rs118203970	17:42148474-42148474	17:44071106-44071106
7	G6PC3	NM_001319945.2(G6PC3):c.*77G>C	SNV	Pathogenic	1040	rs118203971	17:42153154-42153154	17:44075786-44075786
8	G6PC3	G6PC3, 1-BP DUP, 935T	duplication	Pathogenic	1041
9	G6PC3	NM_138387.3(G6PC3):c.346A>G (p.Met116Val)	SNV	Pathogenic	1042	rs267606834	17:42152068-42152068	17:44074700-44074700
10	G6PC3	NM_138387.3(G6PC3):c.130C>T (p.Pro44Ser)	SNV	Pathogenic	189781	rs775224457	17:42148463-42148463	17:44071095-44071095
11	G6PC3	NM_001319945.2(G6PC3):c.210del (p.Phe71fs)	deletion	Pathogenic	189782	rs769441127	17:42148543-42148543	17:44071175-44071175
12	G6PC3	NM_138387.3(G6PC3):c.829C>T (p.Gln277Ter)	SNV	Pathogenic	189783	rs148559256	17:42153199-42153199	17:44075831-44075831
13	G6PC3	NM_001319945.2(G6PC3):c.*228dup	duplication	Pathogenic	189784	rs797044567	17:42153301-42153302	17:44075933-44075934
14	G6PC3	NM_138387.3(G6PC3):c.144C>G (p.Tyr48Ter)	SNV	Likely pathogenic	632283	rs1194477276	17:42148477-42148477	17:44071109-44071109
15	G6PC3	NM_138387.3(G6PC3):c.778G>C (p.Gly260Arg)	SNV	Conflicting interpretations of pathogenicity	30874	rs200478425	17:42153148-42153148	17:44075780-44075780
16	G6PC3	NM_138387.3(G6PC3):c.201C>T (p.Leu67=)	SNV	Conflicting interpretations of pathogenicity	323461	rs375273894	17:42148534-42148534	17:44071166-44071166
17	G6PC3	NM_138387.3(G6PC3):c.219-13T>C	SNV	Uncertain significance	323462	rs773122600	17:42151515-42151515	17:44074147-44074147
18	G6PC3	NM_138387.3(G6PC3):c.668A>C (p.Asp223Ala)	SNV	Uncertain significance	323468	rs779584053	17:42152810-42152810	17:44075442-44075442
19	G6PC3	NM_138387.3(G6PC3):c.187A>G (p.Ile63Val)	SNV	Uncertain significance	323460	rs34878178	17:42148520-42148520	17:44071152-44071152
20	G6PC3	NM_138387.3(G6PC3):c.407G>A (p.Arg136Gln)	SNV	Uncertain significance	323465	rs200050824	17:42152129-42152129	17:44074761-44074761
21	G6PC3	NM_138387.3(G6PC3):c.419G>A (p.Arg140His)	SNV	Uncertain significance	537188	rs989437299	17:42152339-42152339	17:44074971-44074971
22	G6PC3	NM_138387.3(G6PC3):c.-164G>A	SNV	Uncertain significance	323456	rs886052985	17:42148170-42148170	17:44070802-44070802
23	G6PC3	NM_138387.3(G6PC3):c.377T>C (p.Met126Thr)	SNV	Uncertain significance	323463	rs886052986	17:42152099-42152099	17:44074731-44074731
24	G6PC3	NM_138387.3(G6PC3):c.*234C>G	SNV	Uncertain significance	323473	rs763555878	17:42153645-42153645	17:44076277-44076277
25	G6PC3	NM_138387.3(G6PC3):c.406C>T (p.Arg136Trp)	SNV	Uncertain significance	323464	rs138557340	17:42152128-42152128	17:44074760-44074760
26	G6PC3	NM_138387.3(G6PC3):c.727G>A (p.Val243Met)	SNV	Uncertain significance	323469	rs140785361	17:42153097-42153097	17:44075729-44075729
27	G6PC3	NM_138387.3(G6PC3):c.-231A>G	SNV	Uncertain significance	323453	rs886052983	17:42148103-42148103	17:44070735-44070735
28	G6PC3	NM_138387.3(G6PC3):c.-162G>A	SNV	Uncertain significance	323457	rs536609615	17:42148172-42148172	17:44070804-44070804
29	G6PC3	NM_138387.3(G6PC3):c.175T>C (p.Trp59Arg)	SNV	Uncertain significance	853860		17:42148508-42148508	17:44071140-44071140
30	G6PC3	NM_138387.3(G6PC3):c.484A>G (p.Ile162Val)	SNV	Uncertain significance	847646		17:42152404-42152404	17:44075036-44075036
31	G6PC3	NM_138387.3(G6PC3):c.824G>A (p.Arg275Gln)	SNV	Uncertain significance	850327		17:42153194-42153194	17:44075826-44075826
32	G6PC3	NM_138387.3(G6PC3):c.908C>A (p.Pro303His)	SNV	Uncertain significance	851336		17:42153278-42153278	17:44075910-44075910
33	G6PC3	NM_138387.3(G6PC3):c.416+3A>G	SNV	Uncertain significance	849957		17:42152141-42152141	17:44074773-44074773
34	G6PC3	NM_138387.3(G6PC3):c.-178C>A	SNV	Uncertain significance	891207		17:42148156-42148156	17:44070788-44070788
35	G6PC3	NM_138387.3(G6PC3):c.-155T>A	SNV	Uncertain significance	891208		17:42148179-42148179	17:44070811-44070811
36	G6PC3	NM_138387.3(G6PC3):c.-149G>A	SNV	Uncertain significance	892405		17:42148185-42148185	17:44070817-44070817
37	G6PC3	NM_138387.3(G6PC3):c.-48G>A	SNV	Uncertain significance	892406		17:42148286-42148286	17:44070918-44070918
38	G6PC3	NM_138387.3(G6PC3):c.*67G>A	SNV	Uncertain significance	889712		17:42153478-42153478	17:44076110-44076110
39	G6PC3	NM_138387.3(G6PC3):c.*97G>C	SNV	Uncertain significance	889713		17:42153508-42153508	17:44076140-44076140
40	G6PC3	NM_138387.3(G6PC3):c.417-14T>C	SNV	Uncertain significance	889014		17:42152323-42152323	17:44074955-44074955
41	G6PC3	NM_138387.3(G6PC3):c.417-9T>G	SNV	Uncertain significance	889015		17:42152328-42152328	17:44074960-44074960
42	G6PC3	NM_138387.3(G6PC3):c.10A>G (p.Thr4Ala)	SNV	Uncertain significance	665433		17:42148343-42148343	17:44070975-44070975
43	G6PC3	NM_138387.3(G6PC3):c.31A>G (p.Ile11Val)	SNV	Uncertain significance	652746		17:42148364-42148364	17:44070996-44070996
44	G6PC3	NM_138387.3(G6PC3):c.376A>G (p.Met126Val)	SNV	Uncertain significance	663027		17:42152098-42152098	17:44074730-44074730
45	G6PC3	NM_138387.3(G6PC3):c.479C>T (p.Ser160Leu)	SNV	Uncertain significance	651897		17:42152399-42152399	17:44075031-44075031
46	G6PC3	NM_138387.3(G6PC3):c.982G>A (p.Val328Met)	SNV	Uncertain significance	582332	rs1052762189	17:42153352-42153352	17:44075984-44075984
47	G6PC3	NM_138387.3(G6PC3):c.50A>C (p.Asn17Thr)	SNV	Uncertain significance	576699	rs375162061	17:42148383-42148383	17:44071015-44071015
48	G6PC3	NM_138387.3(G6PC3):c.580C>T (p.Arg194Trp)	SNV	Uncertain significance	569633	rs748638373	17:42152722-42152722	17:44075354-44075354
49	G6PC3	NM_138387.3(G6PC3):c.800C>G (p.Ser267Cys)	SNV	Uncertain significance	570187	rs201700844	17:42153170-42153170	17:44075802-44075802
50	G6PC3	NM_138387.3(G6PC3):c.709C>T (p.Arg237Trp)	SNV	Uncertain significance	576731	rs763307095	17:42153079-42153079	17:44075711-44075711

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

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Expression for Neutropenia, Severe Congenital, 4, Autosomal Recessive

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

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Pathways for Neutropenia, Severe Congenital, 4, Autosomal Recessive

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

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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 GeneAnalytics

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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