B-cell immunodeficiency, distal limb anomalies, and urogenital malformations(BILU)

MedGen UID:: 332208
•Concept ID:: C1836437
•: Disease or Syndrome

Synonyms:	BILU SYNDROME; HOFFMAN SYNDROME
SNOMED CT:	BILU (B-cell immunodeficiency, limb, urogenital) syndrome (1230295000); B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (1230295000)

Gene (location): Gene(s) directly associated with this condition or phenotype.	TOP2B (3p24.2)

Monarch Initiative:	MONDO:0012243
OMIM®:	609296

Definition

BILU syndrome is an autosomal dominant complex disorder characterized by humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations (summary by Hugle et al., 2011). [from OMIM]

Recent clinical studies

Clinical prediction guides

Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family.

Tischkowitz M, Goodman F, Koliou M, Webster D, Edery P, Jones A, Wilson LC
Clin Genet 2004 Dec;66(6):550-5. doi: 10.1111/j.1399-0004.2004.00349.x. PMID: 15521984

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B-cell immunodeficiency, distal limb anomalies, and urogenital malformations(BILU)

Definition

Recent clinical studies

Clinical prediction guides

Supplemental Content

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Genetic Testing Registry

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Molecular resources

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