DURSS
MCID: NTR050
MIFTS: 32

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

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 58
Dursun Syndrome 58 76 30 13 6 74
Neutropenia, Severe Congenital 4, Autosomal Recessive 58 76
Severe Congenital Neutropenia 4, Autosomal Recessive 30 6
Scn4 58 76
Pulmonary Arterial Hypertension Leukopenia and Atrial Septal Defect 76
Neutropenia, Severe Congenital, Type 4, Autosomal Recessive 41
Neutropenia, Severe Congenital, Autosomal Recessive 4 74
Durss 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
sepsis, neonatal


HPO:

33
neutropenia, severe congenital, 4, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neutropenia, Severe Congenital, 4, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 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 neutrophil, bone and bone marrow, and related phenotypes are global developmental delay and hydronephrosis

Description from OMIM: 612541

Related Diseases for 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:

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

Symptoms via clinical synopsis from OMIM:

58
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

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 30
2 Severe Congenital Neutropenia 4, Autosomal Recessive 30 G6PC3

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

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

42
Neutrophil, Bone, 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
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. ( 20717171 )
2011
3
Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. ( 20616219 )
2010
4
Mutations in the G6PC3 gene cause Dursun syndrome. ( 20799326 )
2010
5
A syndrome with congenital neutropenia and mutations in G6PC3. ( 19118303 )
2009
6
Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. ( 19011569 )
2009

Variations for Neutropenia, Severe Congenital, 4, Autosomal Recessive

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

76 (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

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

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 G6PC3 NM_138387.3(G6PC3): c.346A> G (p.Met116Val) single nucleotide variant Pathogenic rs267606834 GRCh38 Chromosome 17, 44074700: 44074700
2 G6PC3 NM_138387.3(G6PC3): c.758G> A (p.Arg253His) single nucleotide variant Pathogenic rs118203968 GRCh37 Chromosome 17, 42153128: 42153128
3 G6PC3 NM_138387.3(G6PC3): c.758G> A (p.Arg253His) single nucleotide variant Pathogenic rs118203968 GRCh38 Chromosome 17, 44075760: 44075760
4 G6PC3 NM_138387.3(G6PC3): c.554T> C (p.Leu185Pro) single nucleotide variant Pathogenic rs118203969 GRCh37 Chromosome 17, 42152696: 42152696
5 G6PC3 NM_138387.3(G6PC3): c.554T> C (p.Leu185Pro) single nucleotide variant Pathogenic rs118203969 GRCh38 Chromosome 17, 44075328: 44075328
6 G6PC3 NM_138387.3(G6PC3): c.141C> G (p.Tyr47Ter) single nucleotide variant Pathogenic rs118203970 GRCh37 Chromosome 17, 42148474: 42148474
7 G6PC3 NM_138387.3(G6PC3): c.141C> G (p.Tyr47Ter) single nucleotide variant Pathogenic rs118203970 GRCh38 Chromosome 17, 44071106: 44071106
8 G6PC3 NM_138387.3(G6PC3): c.784G> C (p.Gly262Arg) single nucleotide variant Pathogenic rs118203971 GRCh37 Chromosome 17, 42153154: 42153154
9 G6PC3 NM_138387.3(G6PC3): c.784G> C (p.Gly262Arg) single nucleotide variant Pathogenic rs118203971 GRCh38 Chromosome 17, 44075786: 44075786
10 G6PC3 G6PC3, 1-BP DUP, 935T duplication Pathogenic
11 G6PC3 NM_138387.3(G6PC3): c.346A> G (p.Met116Val) single nucleotide variant Pathogenic rs267606834 GRCh37 Chromosome 17, 42152068: 42152068
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.201C> T (p.Leu67=) single nucleotide variant Uncertain significance rs375273894 GRCh38 Chromosome 17, 44071166: 44071166
27 G6PC3 NM_138387.3(G6PC3): c.201C> T (p.Leu67=) single nucleotide variant Uncertain significance rs375273894 GRCh37 Chromosome 17, 42148534: 42148534
28 G6PC3 NM_138387.3(G6PC3): c.416+5A> G single nucleotide variant Benign/Likely benign rs73306693 GRCh38 Chromosome 17, 44074775: 44074775
29 G6PC3 NM_138387.3(G6PC3): c.416+5A> G single nucleotide variant Benign/Likely benign rs73306693 GRCh37 Chromosome 17, 42152143: 42152143
30 G6PC3 NM_138387.3(G6PC3): c.815A> G (p.Gln272Arg) single nucleotide variant Benign/Likely benign rs34491309 GRCh37 Chromosome 17, 42153185: 42153185
31 G6PC3 NM_138387.3(G6PC3): c.815A> G (p.Gln272Arg) single nucleotide variant Benign/Likely benign rs34491309 GRCh38 Chromosome 17, 44075817: 44075817
32 G6PC3 NM_138387.3(G6PC3): c.407G> A (p.Arg136Gln) single nucleotide variant Uncertain significance rs200050824 GRCh38 Chromosome 17, 44074761: 44074761
33 G6PC3 NM_138387.3(G6PC3): c.407G> A (p.Arg136Gln) single nucleotide variant Uncertain significance rs200050824 GRCh37 Chromosome 17, 42152129: 42152129
34 G6PC3 NM_138387.3(G6PC3): c.419G> A (p.Arg140His) single nucleotide variant Uncertain significance rs989437299 GRCh37 Chromosome 17, 42152339: 42152339
35 G6PC3 NM_138387.3(G6PC3): c.419G> A (p.Arg140His) single nucleotide variant Uncertain significance rs989437299 GRCh38 Chromosome 17, 44074971: 44074971
36 G6PC3 NM_138387.3(G6PC3): c.879G> A (p.Leu293=) single nucleotide variant Likely benign rs780718603 GRCh37 Chromosome 17, 42153249: 42153249
37 G6PC3 NM_138387.3(G6PC3): c.879G> A (p.Leu293=) single nucleotide variant Likely benign rs780718603 GRCh38 Chromosome 17, 44075881: 44075881
38 G6PC3 NM_138387.3(G6PC3): c.982G> A (p.Val328Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 42153352: 42153352
39 G6PC3 NM_138387.3(G6PC3): c.982G> A (p.Val328Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 44075984: 44075984
40 G6PC3 NM_138387.3(G6PC3): c.50A> C (p.Asn17Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 44071015: 44071015
41 G6PC3 NM_138387.3(G6PC3): c.50A> C (p.Asn17Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 42148383: 42148383
42 G6PC3 NM_138387.3(G6PC3): c.580C> T (p.Arg194Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 44075354: 44075354
43 G6PC3 NM_138387.3(G6PC3): c.580C> T (p.Arg194Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 42152722: 42152722
44 G6PC3 NM_138387.3(G6PC3): c.800C> G (p.Ser267Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 42153170: 42153170
45 G6PC3 NM_138387.3(G6PC3): c.800C> G (p.Ser267Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 44075802: 44075802
46 G6PC3 NM_138387.3(G6PC3): c.709C> T (p.Arg237Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 42153079: 42153079
47 G6PC3 NM_138387.3(G6PC3): c.709C> T (p.Arg237Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 44075711: 44075711
48 G6PC3 NM_138387.3(G6PC3): c.821G> A (p.Arg274His) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 42153191: 42153191
49 G6PC3 NM_138387.3(G6PC3): c.821G> A (p.Arg274His) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 44075823: 44075823
50 G6PC3 NM_138387.3(G6PC3): c.677+7C> T single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 42152826: 42152826

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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