Severe congenital neutropenia due to JAGN1 deficiency
Synonyms: SCN due to JAGN1 deficiency · Severe congenital neutropenia due to jagunal homolog 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the <i>JAGN1</i> gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coarctation of aorta, as well as bone and urogenital abnormalities, may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe congenital neutropenia due to JAGN1 deficiency | SCN due to JAGN1 deficiency · Severe congenital neutropenia due to jagunal homolog 1 deficiency |
| fr | Neutropénie congénitale sévère par déficit en JAGN1 | NCS par déficit en JAGN1 · Neutropénie congénitale sévère par déficit en protéine jagunal homolog 1 |
| de | Neutropenie, kongenitale schwere, durch JAGN1-Mangel | SCN durch JAGN1-Defizienz · Schwere kongenitale Neutropenie aufgrund eines Mangels an Jagunal-Homolog-1-Protein |
| es | Neutropenia congénita grave por deficiencia de JAGN1 | NCG por deficiencia de JAGN1 · Neutropenia congénita grave por deficiencia del homólogo yagunal 1 |
| it | Neutropenia congenita grave, autosomica recessiva, da deficit di JAGN1 | Neutropenia congenita grave da deficit di jagunal homolog 1 deficiency · SCN da deficit di JAGN1 |
| nl | Ernstige congenitale neutropenie door JAGN1-deficiëntie | Ernstige congenitale neutropenie door deficiëntie van 'jagunal homolog 1' · SCN door JAGN1-deficiëntie |
| pt | Neutropenia congénita grave por deficiência JAGN1 | Neutropenia congénita grave por homologo 1 jagunal · SCN por deficiência JAGN1 |
| pl | Autosomalna recesywna ciężka wrodzona neutropenia z powodu niedoboru JAGN1 | Ciężka wrodzona neutropenia spowodowana niedoborem JAGN1 |
| cs | Autozomálně recesivní těžká kongenitální neutropenie způsobená deficitem JAGN1 | = en |
| uk | Тяжка вроджена нейтропенія, зумовлена дефіцитом JAGN1 | SCN через дефіцит JAGN1 · Тяжка вроджена нейтропенія внаслідок дефіциту ягунального гомолога 1 |
| zh | JAGN1缺陷所致常染色体隐性遗传性先天性中性粒细胞减少症 | |
| tr | JAGN1 eksikliğine bağlı otozomal resesif ağır doğumsal nötropeni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616022 | E | validated | |
| ICD-10 | D70 | NTBT | attributed | validated |
| ICD-11 | 4B00.00 | NTBT | index | validated |
| MONDO | 0014456 | E | validated | |
| UMLS | C5925036 | 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 (2):
- ORPHA:439849Autosomal recessive severe congenital neutropenia
rare genetic diseases; rare immunological 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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| JAGN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26926 | ENSG00000171135 | 616012 | 3p25.3 | jagunal vesicle mediated transporter 1 | 25129144[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 25129144[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25129144[PMID] |
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/423384
- This record as JSON: /data/d/423384.json