ORPHA:486
Autosomal dominant severe congenital neutropenia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant severe congenital neutropenia | |
| fr | Neutropénie congénitale sévère autosomique dominante | |
| de | Neutropenie, kongenitale schwere, autosomal-dominante | |
| es | Neutropenia congénita grave autosómica dominante | |
| it | Neutropenia congenita grave autosomica dominante | |
| nl | Autosomaal dominante ernstige congenitale neutropenie | |
| pt | Neutropenia congénita grave autossómica dominante | |
| pl | Autosomalna dominująca ciężka wrodzona neutropenia | |
| cs | Autozomálně dominantní těžká vrozená neutropenie | |
| uk | Аутосомно-домінантна тяжка вроджена нейтропенія | |
| zh | 常染色体显性严重先天性中性粒细胞减少症 | |
| tr | Otozomal dominant ağır doğumsal nötropeni |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202700 | E | validated | |
| OMIM | 257100 | BTNT | validated | |
| OMIM | 613107 | BTNT | validated | |
| OMIM | 619813 | BTNT | validated | |
| ICD-10 | D70 | NTBT | attributed | validated |
| ICD-11 | 4B00.00 | NTBT | index | validated |
| MONDO | 0008742 | E | validated | |
| UMLS | C4749612 | E | validated | |
| GARD | 9558 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:42738Severe congenital neutropenia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLPB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30664 | ENSG00000162129 | 616254 | 11q13.4 | ClpB family mitochondrial disaggregase | 34115842[PMID] |
| ELANE | Disease-causing germline mutation(s) in | Assessed | HGNC:3309 | ENSG00000197561 | 130130 | 19p13.3 | elastase, neutrophil expressed | |
| GFI1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4237 | ENSG00000162676 | 600871 | 1p22.1 | growth factor independent 1 transcriptional repressor | 12778173[PMID] |
| SRP19 | Disease-causing germline mutation(s) in | Assessed | HGNC:11300 | ENSG00000153037 | 182175 | 5q22.2 | signal recognition particle 19 | 36223592[PMID] |
| TCIRG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11647 | ENSG00000110719 | 604592 | 11q13.2 | T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | 24753205[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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.
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HPO phenotypes
31 annotations · validated 2019-04-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001875 | Decreased total neutrophil count | |
| Very frequent (99-80%) | ||
| HP:0002718 | Recurrent bacterial infections | |
| HP:0004429 | Recurrent viral infections | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002014 | Diarrhea | |
| HP:0001945 | Fever | |
| HP:0000230 | Gingivitis | |
| HP:0012311 | Increased total monocyte count | |
| HP:0001888 | Lymphopenia | |
| HP:0000155 | Oral ulcer | |
| HP:0000704 | Periodontitis | |
| HP:0025439 | Pharyngitis | |
| HP:0002090 | Pneumonia | |
| HP:0011107 | Recurrent aphthous stomatitis | |
| HP:0410018 | Recurrent ear infections | |
| HP:0004798 | Recurrent infection of the gastrointestinal tract | |
| HP:0005425 | Recurrent sinopulmonary infections | |
| HP:0001581 | Recurrent skin infections | |
| HP:0012384 | Rhinitis | |
| Occasional (29-5%) | ||
| HP:0006721 | Acute lymphoblastic leukemia | |
| HP:0004808 | Acute myeloid leukemia | |
| HP:0003453 | Antineutrophil antibody positivity | |
| HP:0001915 | Aplastic anemia | |
| HP:0100658 | Cellulitis | |
| HP:0001028 | Hemangioma | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0001909 | Leukemia | |
| HP:0002863 | Myelodysplasia | |
| HP:0000938 | Osteopenia | |
| HP:0006480 | Premature loss of teeth | |
| HP:0025452 | Pyoderma gangrenosum | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28593997[PMID]_28875503[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/486
- This record as JSON: /data/d/486.json