B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
Synonyms: BILU syndrome · Hoffman syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome | BILU syndrome · Hoffman syndrome |
| fr | Syndrome de déficit immunitaire en lymphocytes B-anomalie des membres-malformation urogénitale | Syndrome BILU · Syndrome Hoffman |
| de | B-Zell-Immundefekt-Extremitätenanomalien-urogenitale Fehlbildungen-Syndrom | BILU-Syndrom · Hoffman-Syndrom |
| es | Síndrome de inmunodeficiencia de células B-anomalías de las extremidades-malformaciones urogenitales | Síndrome BILU · Síndrome de Hoffman |
| it | Sindrome da immunodeficienza dei linfociti B, anomalie degli arti e malformazioni urogenitali | Sindrome BILU · Sindrome di Hoffman |
| nl | B-cel-immuundeficiëntie - ledemaatanomalieën - urogenitale malformaties-syndroom | BILU-syndroom · Syndroom van Hoffman |
| pt | Síndrome de imunodeficiência de células-B | |
| pl | Zespół malformacji moczowo-płciowych, wad kończyn i niedoboru odporności związanej z komórkami B | = en |
| cs | Syndrom zahrnující B-buněčnou imunodeficienci, anomálii končetin a urogenitální malformaci | = en |
| uk | Синдром В-клітинного імунодефіциту-аномалії кінцівок-урогенітальних вад розвитку | Синдром BILU · Синдром Гофмана |
| zh | B细胞免疫缺陷-肢体异常-泌尿生殖器畸形综合征 | 霍夫曼综合征（甲状腺功能减退性肌病） |
| tr | B hücre immün yetmezliği-ekstremite anomalisi-ürogenital malformasyon sendromu | BILU sendromu · Hoffman sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609296 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0035454 | E | validated | |
| MONDO | 12243 | E | validated | |
| MONDO | 35454 | E | validated | |
| MeSH | C563745 | E | validated | |
| UMLS | C1836437 | 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 (5):
- 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:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:229720Syndromic agammaglobulinemia
rare genetic diseases; rare immunological diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TOP2B | Disease-causing germline mutation(s) in | Assessed | HGNC:11990 | ENSG00000077097 | 126431 | 3p24.2 | DNA topoisomerase II beta | 31409799[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 31409799[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_31409799[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/567502
- This record as JSON: /data/d/567502.json