SCN4
MCID: NTR050
MIFTS: 31

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

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases

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 75 29 13 6 73
Neutropenia, Severe Congenital 4, Autosomal Recessive 57 75
Severe Congenital Neutropenia 4, Autosomal Recessive 29 6
Scn4 57 75
Pulmonary Arterial Hypertension Leukopenia and Atrial Septal Defect 75
Neutropenia, Severe Congenital, Type 4, Autosomal Recessive 40
Neutropenia, Severe Congenital, Autosomal Recessive 4 73
Durss 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
sepsis, neonatal


HPO:

32
neutropenia, severe congenital, 4, autosomal recessive:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neutropenia, Severe Congenital, 4, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 neutropenia and severe congenital neutropenia. An important gene associated with Neutropenia, Severe Congenital, 4, Autosomal Recessive is G6PC3 (Glucose-6-Phosphatase Catalytic Subunit 3). Affiliated tissues include bone, neutrophil and bone marrow, and related phenotypes are clinodactyly and high palate

Description from OMIM: 612541

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

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
broad thumbs
simian crease
proximal localization of thumb

Respiratory:
respiratory insufficiency
recurrent respiratory infections

Abdomen Liver:
hepatomegaly

Hematology:
anemia
thrombocytopenia
lymphopenia
neutropenia
leukopenia
more
Genitourinary Internal Genitalia Male:
cryptorchidism

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

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

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)

Growth Other:
failure to thrive
poor growth

Abdomen Spleen:
splenomegaly

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

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

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

Head And Neck Nose:
broad nasal bridge

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

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

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

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

Search Clinical Trials , NIH Clinical Center 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:

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

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

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

41
Bone, Neutrophil, Bone Marrow, Thymus, Myeloid

Publications for Neutropenia, Severe Congenital, 4, Autosomal Recessive

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

# Title Authors Year
1
Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines. ( 24549407 )
2014
2
Mutations in the G6PC3 gene cause Dursun syndrome. ( 20799326 )
2010

Variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive

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

75 (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
18 G6PC3 p.Thr118Arg VAR_073176 rs766706036
19 G6PC3 p.Arg161Gln VAR_073177 rs148507320
20 G6PC3 p.Arg253Cys VAR_073178 rs765927570

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

6 (show all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 G6PC3 NM_138387.3(G6PC3): c.758G> A (p.Arg253His) single nucleotide variant Pathogenic rs118203968 GRCh37 Chromosome 17, 42153128: 42153128
2 G6PC3 NM_138387.3(G6PC3): c.758G> A (p.Arg253His) single nucleotide variant Pathogenic rs118203968 GRCh38 Chromosome 17, 44075760: 44075760
3 G6PC3 NM_138387.3(G6PC3): c.554T> C (p.Leu185Pro) single nucleotide variant Pathogenic rs118203969 GRCh37 Chromosome 17, 42152696: 42152696
4 G6PC3 NM_138387.3(G6PC3): c.554T> C (p.Leu185Pro) single nucleotide variant Pathogenic rs118203969 GRCh38 Chromosome 17, 44075328: 44075328
5 G6PC3 NM_138387.3(G6PC3): c.141C> G (p.Tyr47Ter) single nucleotide variant Pathogenic rs118203970 GRCh37 Chromosome 17, 42148474: 42148474
6 G6PC3 NM_138387.3(G6PC3): c.141C> G (p.Tyr47Ter) single nucleotide variant Pathogenic rs118203970 GRCh38 Chromosome 17, 44071106: 44071106
7 G6PC3 NM_138387.3(G6PC3): c.784G> C (p.Gly262Arg) single nucleotide variant Pathogenic rs118203971 GRCh37 Chromosome 17, 42153154: 42153154
8 G6PC3 NM_138387.3(G6PC3): c.784G> C (p.Gly262Arg) single nucleotide variant Pathogenic rs118203971 GRCh38 Chromosome 17, 44075786: 44075786
9 G6PC3 G6PC3, 1-BP DUP, 935T duplication Pathogenic
10 G6PC3 NM_138387.3(G6PC3): c.346A> G (p.Met116Val) single nucleotide variant Pathogenic rs267606834 GRCh37 Chromosome 17, 42152068: 42152068
11 G6PC3 NM_138387.3(G6PC3): c.346A> G (p.Met116Val) single nucleotide variant Pathogenic rs267606834 GRCh38 Chromosome 17, 44074700: 44074700
12 G6PC3 NM_138387.3(G6PC3): c.778G> C (p.Gly260Arg) single nucleotide variant Uncertain significance rs200478425 GRCh37 Chromosome 17, 42153148: 42153148
13 G6PC3 NM_138387.3(G6PC3): c.778G> C (p.Gly260Arg) single nucleotide variant Uncertain significance rs200478425 GRCh38 Chromosome 17, 44075780: 44075780
14 G6PC3 NM_138387.3(G6PC3): c.130C> T (p.Pro44Ser) single nucleotide variant Pathogenic rs775224457 GRCh37 Chromosome 17, 42148463: 42148463
15 G6PC3 NM_138387.3(G6PC3): c.130C> T (p.Pro44Ser) single nucleotide variant Pathogenic rs775224457 GRCh38 Chromosome 17, 44071095: 44071095
16 G6PC3 NM_138387.3(G6PC3): c.210delC (p.Phe71Serfs) deletion Pathogenic rs769441127 GRCh37 Chromosome 17, 42148543: 42148543
17 G6PC3 NM_138387.3(G6PC3): c.210delC (p.Phe71Serfs) deletion Pathogenic rs769441127 GRCh38 Chromosome 17, 44071175: 44071175
18 G6PC3 NM_138387.3(G6PC3): c.829C> T (p.Gln277Ter) single nucleotide variant Pathogenic rs148559256 GRCh37 Chromosome 17, 42153199: 42153199
19 G6PC3 NM_138387.3(G6PC3): c.829C> T (p.Gln277Ter) single nucleotide variant Pathogenic rs148559256 GRCh38 Chromosome 17, 44075831: 44075831
20 G6PC3 NM_138387.3(G6PC3): c.935dupT (p.Asn313Glnfs) duplication Pathogenic rs797044567 GRCh37 Chromosome 17, 42153305: 42153305
21 G6PC3 NM_138387.3(G6PC3): c.935dupT (p.Asn313Glnfs) duplication Pathogenic rs797044567 GRCh38 Chromosome 17, 44075937: 44075937
22 G6PC3 NM_138387.3(G6PC3): c.566G> A (p.Arg189Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs140294222 GRCh37 Chromosome 17, 42152708: 42152708
23 G6PC3 NM_138387.3(G6PC3): c.566G> A (p.Arg189Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs140294222 GRCh38 Chromosome 17, 44075340: 44075340
24 G6PC3 NM_138387.3(G6PC3): c.647C> T (p.Thr216Ile) single nucleotide variant Benign/Likely benign rs34406052 GRCh38 Chromosome 17, 44075421: 44075421
25 G6PC3 NM_138387.3(G6PC3): c.647C> T (p.Thr216Ile) single nucleotide variant Benign/Likely benign rs34406052 GRCh37 Chromosome 17, 42152789: 42152789
26 G6PC3 NM_138387.3(G6PC3): c.416+5A> G single nucleotide variant Benign/Likely benign rs73306693 GRCh38 Chromosome 17, 44074775: 44074775
27 G6PC3 NM_138387.3(G6PC3): c.416+5A> G single nucleotide variant Benign/Likely benign rs73306693 GRCh37 Chromosome 17, 42152143: 42152143
28 G6PC3 NM_138387.3(G6PC3): c.815A> G (p.Gln272Arg) single nucleotide variant Benign/Likely benign rs34491309 GRCh37 Chromosome 17, 42153185: 42153185
29 G6PC3 NM_138387.3(G6PC3): c.815A> G (p.Gln272Arg) single nucleotide variant Benign/Likely benign rs34491309 GRCh38 Chromosome 17, 44075817: 44075817
30 G6PC3 NM_138387.3(G6PC3): c.407G> A (p.Arg136Gln) single nucleotide variant Uncertain significance rs200050824 GRCh38 Chromosome 17, 44074761: 44074761
31 G6PC3 NM_138387.3(G6PC3): c.407G> A (p.Arg136Gln) single nucleotide variant Uncertain significance rs200050824 GRCh37 Chromosome 17, 42152129: 42152129
32 G6PC3 NM_138387.3(G6PC3): c.419G> A (p.Arg140His) single nucleotide variant Uncertain significance rs989437299 GRCh37 Chromosome 17, 42152339: 42152339
33 G6PC3 NM_138387.3(G6PC3): c.419G> A (p.Arg140His) single nucleotide variant Uncertain significance rs989437299 GRCh38 Chromosome 17, 44074971: 44074971
34 G6PC3 NM_138387.3(G6PC3): c.879G> A (p.Leu293=) single nucleotide variant Likely benign rs780718603 GRCh37 Chromosome 17, 42153249: 42153249
35 G6PC3 NM_138387.3(G6PC3): c.879G> A (p.Leu293=) single nucleotide variant Likely benign rs780718603 GRCh38 Chromosome 17, 44075881: 44075881
36 G6PC3 NM_138387.3(G6PC3): c.982G> A (p.Val328Met) single nucleotide variant Uncertain significance rs1052762189 GRCh37 Chromosome 17, 42153352: 42153352
37 G6PC3 NM_138387.3(G6PC3): c.982G> A (p.Val328Met) single nucleotide variant Uncertain significance rs1052762189 GRCh38 Chromosome 17, 44075984: 44075984
38 G6PC3 NM_138387.3(G6PC3): c.50A> C (p.Asn17Thr) single nucleotide variant Uncertain significance rs375162061 GRCh38 Chromosome 17, 44071015: 44071015
39 G6PC3 NM_138387.3(G6PC3): c.50A> C (p.Asn17Thr) single nucleotide variant Uncertain significance rs375162061 GRCh37 Chromosome 17, 42148383: 42148383
40 G6PC3 NM_138387.3(G6PC3): c.580C> T (p.Arg194Trp) single nucleotide variant Uncertain significance rs748638373 GRCh38 Chromosome 17, 44075354: 44075354
41 G6PC3 NM_138387.3(G6PC3): c.580C> T (p.Arg194Trp) single nucleotide variant Uncertain significance rs748638373 GRCh37 Chromosome 17, 42152722: 42152722
42 G6PC3 NM_138387.3(G6PC3): c.800C> G (p.Ser267Cys) single nucleotide variant Uncertain significance rs201700844 GRCh37 Chromosome 17, 42153170: 42153170
43 G6PC3 NM_138387.3(G6PC3): c.800C> G (p.Ser267Cys) single nucleotide variant Uncertain significance rs201700844 GRCh38 Chromosome 17, 44075802: 44075802
44 G6PC3 NM_138387.3(G6PC3): c.709C> T (p.Arg237Trp) single nucleotide variant Uncertain significance rs763307095 GRCh37 Chromosome 17, 42153079: 42153079
45 G6PC3 NM_138387.3(G6PC3): c.709C> T (p.Arg237Trp) single nucleotide variant Uncertain significance rs763307095 GRCh38 Chromosome 17, 44075711: 44075711
46 G6PC3 NM_138387.3(G6PC3): c.821G> A (p.Arg274His) single nucleotide variant Uncertain significance rs773183765 GRCh37 Chromosome 17, 42153191: 42153191
47 G6PC3 NM_138387.3(G6PC3): c.821G> A (p.Arg274His) single nucleotide variant Uncertain significance rs773183765 GRCh38 Chromosome 17, 44075823: 44075823

Expression for Neutropenia, Severe Congenital, 4, Autosomal Recessive

Search GEO for disease gene expression data 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

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