Severe congenital neutropenia due to G6PC3 deficiency
Synonyms: SCN due to G6PC3 deficiency · SCN4 · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency · Severe congenital neutropenia type 4 · Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the <i>G6PC3</i> gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and developmental delay, facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe congenital neutropenia due to G6PC3 deficiency | SCN due to G6PC3 deficiency · SCN4 · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency · Severe congenital neutropenia type 4 · Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome |
| fr | Neutropénie congénitale sévère par déficit en G6PC3 | NCS par déficit en G6PC3 · NCS4 · Neutropénie congénitale sévère par déficit en protéine glucose-6-phosphatase catalytic subunit 3 · Neutropénie congénitale sévère type 4 · Syndrome de neutropénie congénitale sévère-hypertension artérielle pulmonaire-ectasie veineuse superficielle |
| de | Neutropenie, kongenitale schwere, durch G6PC3-Mangel | Neutropenie, kongenitale schwere, 4 · SCN durch G6PC3-Mangel · SCN4 · Schwere kongenitale Neutropenie aufgrund eines Mangels der katalytischen Glukose-6-Phosphatase-Untereinheit 3 · Schwere kongenitale Neutropenie-pulmonale Hypertension-uperfizielle venöse Angiektasie-Syndrom |
| es | Neutropenia congénita grave por deficiencia de G6PC3 | NCG por deficiencia de G6PC3 · Neutropenia congénita grave por deficiencia de la subunidad catalítica 3 de la glucosa-6-fosfatasa · Neutropenia congénita grave tipo 4 · SCN4 · Síndrome de neutropenia congénita grave-hipertensión pulmonar-angiectasia venosa superficial |
| it | Neutropenia congenita grave da deficit di G6PC3 | Neutropenia congenita grave - ipertensione polmonare - angectasia venosa superficiale · Neutropenia congenita grave 4 · Neutropenia congenita grave da deficit della subunità catalitica 3 della glucosio-6-fosfatasi · SCN da deficit di G6PC3 · SCN4 · Sindrome neutropenia congenita grave-ipertensione polmonare-angectasia venosa superficiale |
| nl | Ernstige congenitale neutropenie door G6PC3-deficiëntie | Ernstige congenitale neutropenie - pulmonale hypertensie - oppervlakkige veneuze angiëctasie-syndroom · Ernstige congenitale neutropenie 4 · Ernstige congenitale neutropenie door deficiëntie van katalytische subeenheid 3 van glucose-6-fosfatase · SCN door G6PC3-deficiëntie · SCN4 |
| pt | Neutropenia congénita grave por deficiência G6PC3 | Neutropenia congénita grave por deficiência da subunidade 3 catalitica da glucose-6-fosfatase · Neutropenia congénita grave tipo 4 · SCN por deficiência G6PC3 · SCN4 · Síndrome de neutropenia congénita grave-hipertensão pulmonar-angiectasias venosas superficiais |
| pl | Ciężka wrodzona neutropenia spowodowana niedoborem G6PC3 | Ciężka wrodzona neutropenia - nadciśnienie płucne - powierzchowna angiektazja żylna · Ciężka wrodzona neutropenia 4 · SCN4 |
| cs | Autozomálně recesivní těžká vrozená neutropenie způsobená G6PC3 deficitem | SCN4 · Těžká vrozená neutropenie, typ 4 · Syndrom zahrnující těžkou vrozenou neutropenii, plicní hypertenzi a superficiální venózní angiektázii |
| uk | Тяжка вроджена нейтропенія, зумовлена дефіцитом G6PC3 | SCN через дефіцит G6PC3 · SCN4 · Тяжка вроджена нейтропенія внаслідок дефіциту каталітичної субодиниці 3 глюкозо-6-фосфатази · Тяжка вроджена нейтропенія типу 4 · Тяжка вроджена нейтропенія - легенева гіпертензія - синдром поверхневого венозного ангіоектазу |
| zh | G6PC3基因缺乏所致常染色体隐性遗传性严重先天性中性粒细胞减少症 | 先天性重型中性粒细胞减少4型 |
| tr | G6PC3 eksikliğine bağlı otozomal resesif ağır doğumsal nötropeni | Ağır doğumsal nötropeni-pulmoner hipertansiyon-yüzeysel venöz anjiyektazi sendromu · SCN4 · Ağır doğumsal nötropeni tip 4 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612541 | E | validated | |
| ICD-10 | D70 | NTBT | attributed | validated |
| ICD-11 | 4B00.00 | NTBT | index | validated |
| MONDO | 0012930 | E | validated | |
| MeSH | C567260 | E | validated | |
| UMLS | C2751630 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:439849Autosomal recessive severe congenital neutropenia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:178503Dursun syndrome moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| G6PC3 | Disease-causing germline mutation(s) in | Assessed | HGNC:24861 | ENSG00000141349 | 611045 | 17q21.31 | glucose-6-phosphatase catalytic subunit 3 | 23018568[PMID]_19118303[PMID]_20799326[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 57 cases | Worldwide | Case(s) | Validated | 23758768[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/331176
- This record as JSON: /data/d/331176.json