ORPHA:647
Nijmegen breakage syndrome
Synonyms: AT V1 · Ataxia-telangiectasia, variant 1 · Berlin breakage syndrome · Immunodeficiency-microcephaly-chromosomal instability syndrome · Microcephaly-immunodeficiency-lymphoid malignancy syndrome · NBS · Seemanova syndrome type 2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nijmegen breakage syndrome | AT V1 · Ataxia-telangiectasia, variant 1 · Berlin breakage syndrome · Immunodeficiency-microcephaly-chromosomal instability syndrome · Microcephaly-immunodeficiency-lymphoid malignancy syndrome · NBS · Seemanova syndrome type 2 |
| fr | Syndrome de Nijmegen | AT V1 · Ataxie-télangiectasie variante 1 · Syndrome Berlin breakage · Syndrome Nijmegen breakage · Syndrome d'immunodéficience-microcéphalie-instabilité chromosomique · Syndrome de Nimègue · Syndrome de Seemanova type 2 · Syndrome de microcéphalie-immunodéficience-tumeur lymphoïde · Syndrome des cassures de Nijmegen |
| de | Nijmegen-Chromosomenbruch-Syndrom | AT V1 · Ataxia-Teleangiectasia Variante 1 · Berlin-breakage-Syndrom · Immundefekt-Mikrozephalie-Chromosomeninstabilität-Syndrom · Mikrozephalie-Immundefekt-Lymphoretikulom-Syndrom · NBS · Nijmegen-breakage-Syndrom · Seemanova-Syndrom, Typ 2 |
| es | Síndrome de rotura de Nijmegen | Ataxia-telangiectasia variante 1 · Síndrome de Seemanova tipo 2 · Síndrome de inmunodeficiencia-microcefalia-inestabilidad cromosómica · Síndrome de microcefalia-inmunodeficiencia-linfoma · Síndrome de rotura de Berlin |
| it | Sindrome di Nijmegen da frammentazione cromosomica | AT V1 · Atassia - telangectasia, variante 1 · Immunodeficienza - microcefalia - instabilità cromosomica · NBS · Sindrome da microcefalia, immunodeficienza e tumore linfoide · Sindrome da rotture cromosomiche di Berlino · Sindrome di Seemanova, tipo 2 |
| nl | Nijmegen-breuksyndroom | AT V1 · Ataxie-teleangiëctasie, variant 1 · Berlijn-breuksyndroom · Immuundeficiëntie - microcefalie - chromosomale instabiliteit-syndroom · Microcefalie - immuundeficiëntie - lymfoïde maligniteit-syndroom · NBS · Syndroom van Seemanova type 2 |
| pt | Síndrome de quebras de Nijmegen | Síndrome de imunodeficiência-microcefalia-instabilidade cromossómica · Síndrome de microcefalia-imunodeficiência-malignidade linfóide · Ataxia-telangiectasia, variante 1 · NBS · Síndrome Seemanova tipo 2 |
| pl | Zespół Nijmegen | AT V1 · Ataksja-telangiektazja, wariant 1 · Berlin breakage syndrome · Małogłowie - Niedobór odporności - lymphoreticuloma · NBS · Niedobór odporności- małogłowie - niestabilność chromosomowa · Zespół Seemanova typu 2 |
| cs | Nijmegen breakage syndrom | AT V1 · Ataxia telangiectasia, varianta 1 · Berlínský syndrom chromozomální instability · Syndrom zahrnující imunodeficit, mikrocefalii a chromozomální instabilitu · Syndrom zahrnující mikrocefalii, imunodeficit a lymforetikulom · NBS · Syndrom Seemanové, typ 2 |
| uk | Синдром хромосомної нестабільності Ніймегена | AT V1 · Атаксія-телеангіектазія, варіант 1 · Синдром Берліна · Синдром імунодефіциту-мікроцефалії-хромосомної нестабільності · Синдром мікроцефалії-імунодефіциту-лімфоїдної злоякісної пухлини · NBS · Синдром Сіманова, тип 2 |
| zh | Nijmegen breakage综合征 | 免疫缺陷-小头畸形-染色体不稳定综合征 |
| tr | Nijmegen kırılma sendromu | NBS · AT V1 · Berlin kırılma sendromu · Seemanova sendromu tip 2 · Ataksi-telenjiektazi, varyant 1 · Mikrosefali-immün yetmezlik-lenforetiküloma sendromu · İmmün yetmezlik-mikrosefali-kromozomal instabilite sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251260 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.31 | NTBT | index | validated |
| MONDO | 0009623 | E | validated | |
| MeSH | D049932 | E | validated | |
| UMLS | C0398791 | E | validated | |
| GARD | 3904 | E | validated | |
| MedDRA | 10067857 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:169346DNA repair defect other than combined T-cell and B-cell immunodeficiencies
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NBN | Disease-causing germline mutation(s) in | Assessed | HGNC:7652 | ENSG00000104320 | 602667 | 8q21.3 | nibrin | 20301355[PMID] |
5
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Not yet validated | 20301355[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | 0.7 / 100 000 | Russian Federation | Value and class | Validated | 33488600[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 3.1 / 100 000 | Poland | Value and class | Validated | 33488600[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 3.1 / 100 000 | Czech Republic | Value and class | Validated | 33488600[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 2.6 / 100 000 | Slovakia | Value and class | Validated | 33488600[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 2.3 / 100 000 | Belarus | Value and class | Validated | 33488600[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 1.3 / 100 000 | Ukraine | Value and class | Validated | 33488600[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.
6
HPO phenotypes
49 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011362 | Abnormal hair quantity | |
| HP:0003220 | Abnormality of chromosome stability | |
| HP:0000271 | Abnormality of the face | |
| HP:0001595 | Abnormality of the hair | |
| HP:0002023 | Anal atresia | |
| HP:0002025 | Anal stenosis | |
| HP:0012732 | Anorectal anomaly | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0004326 | Cachexia | |
| HP:0002028 | Chronic diarrhea | |
| HP:0000444 | Convex nasal ridge | |
| HP:0002002 | Deep philtrum | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000364 | Hearing abnormality | |
| HP:0001878 | Hemolytic anemia | |
| HP:0000294 | Low anterior hairline | |
| HP:0000400 | Macrotia | |
| HP:0001268 | Mental deterioration | |
| HP:0000252 | Microcephaly | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000448 | Prominent nose | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0005425 | Recurrent sinopulmonary infections | |
| HP:0000278 | Retrognathia | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000340 | Sloping forehead | |
| HP:0001873 | Thrombocytopenia | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0002664 | Neoplasm | |
| HP:0100515 | Pollakisuria | |
| Occasional (29-5%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0003011 | Abnormality of the musculature | |
| HP:0002488 | Acute leukemia | |
| HP:0012191 | B-cell lymphoma | |
| HP:0000175 | Cleft palate | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0001480 | Freckling | |
| HP:0009733 | Glioma | |
| HP:0002665 | Lymphoma | |
| HP:0001324 | Muscle weakness | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0002878 | Respiratory failure | |
| HP:0002859 | Rhabdomyosarcoma | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0012190 | T-cell lymphoma | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/647
- This record as JSON: /data/d/647.json