Kabuki Syndrome 1 malady
Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases categories
23Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 65Wikipedia, 21GeneReviews, 33MalaCards
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OMIM:47 Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a... (147920) more...
MalaCards based summary: Kabuki Syndrome 1, also known as kabuki syndrome, is related to melanoma and endotheliitis, and has symptoms including abnormality of the nose, macrotia and abnormality of the eyelashes. An important gene associated with Kabuki Syndrome 1 is KMT2D (lysine (K)-specific methyltransferase 2D). Affiliated tissues include eye, heart and kidney.
Genetics Home Reference:23 Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese theater called Kabuki.
NIH Rare Diseases:43 Kabuki syndrome is a condition, present at birth, which affects many parts of the body. affected individuals have facial features that resemble the make-up worn by actors of kabuki, a japanese theatrical form. facial characteristics of kabuki syndrome may include long eye openings that slant upwards, arched eyebrows, prominent ears, and corners of the mouth that turn downwards. this syndrome typically causes mild to moderate intellectual disability as well as problems involving the heart, skeleton, teeth, and immune system. kabuki syndrome is inherited in an autosomal dominant pattern. most causes are caused by mutations in the mll2 gene. last updated: 9/8/2011
Wikipedia:65 Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa?Kuroki Syndrome, is a... more...
GeneReviews summary for kabuki
Kabuki Syndrome 1, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):49
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age
Symptoms by clinical synopsis from OMIM:147920
Clinical features from OMIM:147920
Symptoms:49 (show all 55)
HPO human phenotypes related to Kabuki Syndrome 1:(show all 98)
MalaCards organs/tissues related to Kabuki Syndrome 1:33
Eye, Heart, Kidney, Testes, Bone, Skin
UniProtKB/Swiss-Prot genetic disease variations for Kabuki Syndrome 1:64
Clinvar genetic disease variations for Kabuki Syndrome 1:7
Search GEO for disease gene expression data for Kabuki Syndrome 1.
Cellular components related to Kabuki Syndrome 1 according to GeneCards/GeneDecks:
Biological processes related to Kabuki Syndrome 1 according to GeneCards/GeneDecks:
28ICD10 via Orphanet
36MESH via Orphanet
48OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet