Nijmegen breakage syndrome-like disorder
Synonyms: Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder · NBSLD · RAD50 deficiency
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nijmegen breakage syndrome-like disorder | Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder · NBSLD · RAD50 deficiency |
| fr | Syndrome de Nijmegen-like | Déficit en RAD50 · Microcéphalie et instabilité chromosomique sans immunodéficience · NBSLD · Syndrome de Nimègue-like |
| de | Nijmegen-Breakage-Syndrom-ähnliche Krankheit | |
| es | Trastorno similar al síndrome de rotura de Nijmegen | Deficiencia de RAD50 · Microcefalia e inestabilidad cromosómica sin inmunodeficiencia · Trastorno tipo NBS |
| it | Malattia simile alla sindrome da rotture cromosomiche di Nijmegen | Deficit di RAD50 · Disturbo NBS-simile · Microcefalia e instabilità cromosomica senza immunodeficienza · NBSLD |
| nl | Nijmegen-breuksyndroom-achtige aandoening | Microcefalie en chromosomale instabiliteit zonder immuundeficiëntie · NBS-achtige aandoening · NBSLD · RAD50-deficiëntie |
| pt | Doença síndrome de quebras de Nijmegen-like | |
| pl | Zaburzenie podobne do zespołu Nijmegen | Małogłowie i niestabilność chromosomalna bez niedoboru odporności · NBSLD · Niedobór RAD50 · Zaburzenie podobne do NBS |
| cs | Porucha podobná nijmegenskému breakage syndromu | Mikrocefalie a chromozomální nestabilita bez imunodeficience · NBS-like disorder · NBSLD · RAD50 |
| uk | Захворювання, подібне до синдрому Неймегена | Мікроцефалія та хромосомна нестабільність без імунодефіциту · NBSLD · NBS-подібний розлад · Дефіцит RAD50 |
| zh | 奈梅亨断裂综合征样障碍 | 小头畸形和染色体不稳定不伴免疫缺陷 |
| tr | Nijmegen kırılma sendromu-benzeri bozukluk | NBSLD · RAD50 eksikliği · NBS-benzeri bozukluk · İmmün yetmezlik olmayan mikrosefali ve kromozomal instabilitesi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613078 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.31 | NTBT | index | validated |
| MONDO | 0013118 | E | validated | |
| MeSH | C567767 | E | validated | |
| UMLS | C2751318 | 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 (4):
- 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:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MRE11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7230 | ENSG00000020922 | 600814 | 11q21 | MRE11 double strand break repair nuclease | 21227757[PMID] |
| RAD50 | Disease-causing germline mutation(s) in | Assessed | HGNC:9816 | ENSG00000113522 | 604040 | 5q31.1 | RAD50 double strand break repair protein | 19409520[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 1887849[PMID]_19409520[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1887849[PMID]_19409520[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/240760
- This record as JSON: /data/d/240760.json