Neutropenia-monocytopenia-deafness syndrome
historical
Synonyms: Neutropenia-monocytopenia-hearing loss syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare syndrome characterized by congenital neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. Patients present with severe recurrent bacterial infections that may lead to bacterial septicemia. There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neutropenia-monocytopenia-deafness syndrome | Neutropenia-monocytopenia-hearing loss syndrome |
| fr | Syndrome de neutropénie-monocytopénie-surdité | |
| de | Neutropenie-Monozytopenie-Schwerhörigkeit-Syndrom | |
| es | Síndrome de neutropenia-monocitopenia-sordera | Síndrome de neutropenia-monocitopenia-hipoacusia |
| it | Neutropenia - monocitopenia - sordità | |
| nl | Neutropenie - monocytopenie - doofheid-syndroom | Neutropenie - monocytopenie - gehoorverlies-syndroom |
| pt | Síndrome de neutropenia-monocitopenia-surdez | |
| pl | Neutropenia - monocytopenia - głuchota | = en |
| cs | Syndrom zahrnující neutropenii, monocytopenii a hluchotu | = en |
| uk | Синдром нейтропенії-моноцитопенії-глухоти | Синдром нейтропенії-моноцитопенії-глухоти |
| zh | 中性粒细胞减少-单核细胞减少-耳聋综合征 | 中性粒细胞减少-单核细胞减少-听力丧失综合征 |
| tr | Nötropeni-monositopeni-sağırlık sendromu | Nötropeni-monositopeni-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D82.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0017100 | E | validated | |
| UMLS | C4518430 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 6604450[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6604450[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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004311 | Abnormal macrophage morphology | |
| HP:0001874 | Abnormality of neutrophils | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2690
- This record as JSON: /data/d/2690.json