Kabuki syndrome 1

Preferred Label : Kabuki syndrome 1;

Symbol : KABUK1;

CISMeF acronym : KABUK1; KMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Niikawa-kuroki syndrome; KMS; Kabuki make-up syndrome; Kabuki syndrome;

Description : Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). - Genetic Heterogeneity Kabuki syndrome-2 (300867) is caused by mutation in the KDM6A gene (300128) on chromosome Xp11.3.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myeloid/lymphoid or mixed lineage leukemia 2 gene (MLL2, 602113.0001);

Prefixed ID : #147920;

Details

Origin ID

147920;

UMLS CUI

C0796004;

Automatic exact mappings (from CISMeF team)
- ANOS1 wt Allele [NCIt concept]
- KMT2D wt Allele [NCIt concept]
- Kilometer [NCIt concept]
- Kilometer (qualifier value) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Kabuki Syndrome [NCIt concept]
- Kabuki make-up syndrome [MedDRA Preferred Term]
- Kabuki make-up syndrome (disorder) [SNOMED CT concept]
- Kabuki syndrome [PASCAL descriptor]
- Kabuki syndrome [DO Concept]
- Kabuki syndrome [Disease (Nov.)]
- Kabuki syndrome [ICD-11 More detail]
- Kabuki syndrome [MeSH concept]
- Kabuki syndrome [ORDO Disease]
- Niikawa-Kuroki syndrome [MedDRA LLT]
- kabuki syndrome [MeSH Supplementary Concept]
DO Cross reference
- Kabuki syndrome [DO Concept]
False automatic mappings
- Comoros [NCIt concept]
Genes related to phenotype
- Lysine-specific methyltransferase 2d [OMIM gene]
HPO term(s)
- Abnormal vertebral morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Anal atresia [HPO term]
- Anal stenosis [HPO term]
- Anoperineal fistula [HPO term]
- Atrial septal defect [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blue sclerae [HPO term]
- Broad nasal root [HPO term]
- Cafe-au-lait spot [HPO term]
- Cleft palate [HPO term]
- Coarctation of aorta [HPO term]
- Congenital hip dislocation [HPO term]
- Congenital hypothyroidism [HPO term]
- Crossed fused renal ectopia [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal tip [HPO term]
- Eversion of lateral third of lower eyelids [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Hemolytic anemia [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hirsutism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intestinal malrotation [HPO term]
- Joint hypermobility [HPO term]
- Large, prominent ears [HPO term]
- Long palpebral fissure [HPO term]
- Macrotia [HPO term]
- Malabsorption [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Preauricular pit [HPO term]
- Premature thelarche [HPO term]
- Prominent eyelashes [HPO term]
- Prominent fingertip pads [HPO term]
- Ptosis [HPO term]
- Recurrent aspiration pneumonia [HPO term]
- Recurrent infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent otitis media in infancy [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short 5th finger [HPO term]
- Short stature [HPO term]
- Sparse and thin eyebrow [HPO term]
- Strabismus [HPO term]
- Susceptibility to infection [HPO term]
- Ureteropelvic junction obstruction [HPO term]
- Ventricular septal defect [HPO term]
- Wide nasal bridge [HPO term]
- idiopathic thrombocytopenic purpura [HPO term]
- thick, arched eyebrows [HPO term]
ORDO concept(s)
- Kabuki syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Kabuki Syndrome [NCIt concept]
- Kabuki make-up syndrome [MedDRA Preferred Term]
- Kabuki make-up syndrome (disorder) [SNOMED CT concept]
- Kabuki syndrome [MeSH concept]
- Kabuki syndrome [ORDO Disease]
- Kabuki syndrome [DO Concept]
- Kabuki syndrome [PASCAL descriptor]
- Kabuki syndrome [Disease (Nov.)]
- Niikawa-Kuroki syndrome [MedDRA LLT]
- kabuki syndrome [MeSH Supplementary Concept]

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