Kabuki Syndrome

Preferred Label : Kabuki Syndrome;

NCIt synonyms : Niikawa-Kuroki Syndrome; KMS;

NCIt related terms : Kabuki Make-up Syndrome;

NCIt definition : A rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability.;

Alternative definition : NICHD: A syndrome caused in the majority of cases by heterozygous mutation(s) in the KMT2D gene, encoding lysine-specific methyltransferase 2D, an enzyme involved in chromatin regulation; a minority of cases result from mutation(s) in the X-linked KDM6A gene, encoding lysine-specific demethylase 6A, an enzyme involved in regulation of histone methylation. The condition is characterized by distinctive facial features, including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose and large protruding earlobes, dermatoglyphic anomalies, hypotonia, short stature, developmental delay, and intellectual impairment. Some patients also manifest congenital hyperinsulinism, the molecular mechanism of which is unknown.;

Details

Origin ID

C124837;

UMLS CUI

C0796004;

Automatic exact mappings (from CISMeF team)
- Hemangioma-thrombocytopenia syndrome [OMIM Phenotype]
- Hypogonadotropic hypogonadism 1 with or without anosmia [OMIM Phenotype]
Currated CISMeF NLP mapping
- Kabuki make-up syndrome [MedDRA Preferred Term]
- Kabuki make-up syndrome (disorder) [SNOMED CT concept]
- Kabuki syndrome [PASCAL descriptor]
- Kabuki syndrome [MeSH concept]
- Kabuki syndrome [ORDO Disease]
- Kabuki syndrome [DO Concept]
- Kabuki syndrome [ICD-11 More detail]
- Kabuki syndrome [OMIM phenotypic series]
- Kabuki syndrome [Disease (Nov.)]
- Kabuki syndrome 1 [OMIM Phenotype]
- Niikawa-Kuroki syndrome [MedDRA LLT]
- kabuki syndrome [MeSH Supplementary Concept]
DO Cross reference
- Kabuki syndrome [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Kabuki make-up syndrome [MedDRA Preferred Term]
- Kabuki make-up syndrome (disorder) [SNOMED CT concept]
- Kabuki syndrome [ORDO Disease]
- Kabuki syndrome [PASCAL descriptor]
- Kabuki syndrome [DO Concept]
- Kabuki syndrome [MeSH concept]
- Kabuki syndrome [Disease (Nov.)]
- Kabuki syndrome 1 [OMIM Phenotype]
- Niikawa-Kuroki syndrome [MedDRA LLT]
- kabuki syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients