Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Synonyms: VPS45 deficiency · Vacuolar sorting protein 45 deficiency · Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital neutropenia-myelofibrosis-nephromegaly syndrome | VPS45 deficiency · Vacuolar sorting protein 45 deficiency · Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome |
| fr | Syndrome de neutropenie congénitale-myélofibrose-néphromégalie | Déficit en VPS45 · Déficit en Vacuolar sorting protein 45 · Syndrome de neutropenie congénitale-fibrose de la moelle osseuse-néphromégalie |
| de | Kongenitale Neutropenie-Myelofibrose-Nephromegalie-Syndrom | Kongenitale Neutropenie-Knochenmarkfibrose-Nephromegalie-Syndrom · Vakuolares Sortierprotein 45-Defizienz |
| es | Síndrome de neutropenia congénita-mielofibrosis-nefromegalia | Deficiencia de VPS45 · Deficiencia de proteína de clasificación vacuolar 45 · Síndrome de neutropenia congénita-fibrosis de la médula ósea-nefromegalia |
| it | Sindrome neutropenia congenita-mielofibrosi-nefromegalia | Deficit di VPS45 · Deficit di vacuolar sorting protein 45 · Sindrome neutropenia congenita-fibrosi del midollo osseo-nefromegalia · Sindrome neutropenia congenita-mielofibrosi-nefromegalia |
| nl | Congenitale neutropenie - myelofibrose - nefromegalie-syndroom | Congenitale neutropenie - beenmergfibrose - nefromegalie-syndroom · Deficiëntie van 'Vacuolar sorting' proteïne 45 · VPS45-deficiëntie |
| pt | Síndrome de neutropenia congénita-mielofibrose-nefromegalia | Deficiência VPS45 · Deficiência da proteina 45 de seleção vacuolar · Síndrome de neutropenia congénita-bibrose medula óssea-nefromegalia |
| pl | Zespół wrodzonej neutropenii, zwłóknienia szpiku i nefromegalii | Zespół nawracajace infekcje-zwłóknienie szpiku-nefromegalia · Zespół neutropenia wrodzona-mielofibroza-nefromegalia · Zespół neutropenia wrodzona-zwłóknienie szpiku-nefromegalia |
| cs | Syndrom zahrnující vrozenou neutropenii, myelofibrózu a nefromegalii | Deficit VPS45 · Syndrom zahrnující vrozenou neutropenii, fibrózu kostní dřeně a nefromegalii |
| uk | Синдром вродженої нейтропенії-мієлофіброзу-нефромегалії | Вродженаий синдром нейтропенії - фіброзу кісткового мозку - нефромегалії · Дефіцит білка 45 вакуолярного сортування · Дефіцит VPS45 |
| zh | 先天性中性粒细胞减少-骨髓纤维化-肾肿大综合征 | 先天性中性粒细胞减少-骨髓纤维化-肾肿大综合征 |
| tr | Doğumsal nötropeni-miyelofibroz-nefromegali sendromu | VPS45 eksikliği · Doğumsal nötropeni-kemik iliği fibrozis-nefromegali sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615285 | E | validated | |
| ICD-10 | D70 | NTBT | attributed | validated |
| MONDO | 0014118 | E | validated | |
| UMLS | C4755251 | 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 (1):
- 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 |
|---|---|---|---|---|---|---|---|---|
| VPS45 | Disease-causing germline mutation(s) in | Assessed | HGNC:14579 | ENSG00000136631 | 610035 | 1q21.2 | vacuolar protein sorting 45 homolog | 23738510[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 26358756[PMID]_28453180[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26358756[PMID]_28453180[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/369852
- This record as JSON: /data/d/369852.json