|
KABUK1
MCID: KBK002
MIFTS: 67
|
Kabuki Syndrome 1 (KABUK1)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Kabuki Syndrome 1:
Characteristics:Orphanet epidemiological data:58
kabuki syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
majority of cases are sporadic increased susceptibility to infections HPO:31GeneReviews:24
Penetrance Penetrance for pathogenic variants in kmt2d appears to be complete; not enough information is available to make any conclusions regarding penetrance for those with pathogenic variants in kdm6a. variable expressivity may lead to underascertainment of mildly affected individuals.
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis External Ids:
|
|
Genetics Home Reference :
25
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 Kabuki theater.
People with Kabuki syndrome have mild to severe developmental delay and intellectual disability. Affected individuals may also have seizures, an unusually small head size (microcephaly), or weak muscle tone (hypotonia). Some have eye problems such as rapid, involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).
Other characteristic features of Kabuki syndrome include short stature and skeletal abnormalities such as abnormal side-to-side curvature of the spine (scoliosis), short fifth (pinky) fingers, or problems with the hip and knee joints. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched, and dental problems are common in affected individuals. People with Kabuki syndrome may also have fingerprints with unusual features and fleshy pads at the tips of the fingers. These prominent finger pads are called fetal finger pads because they normally occur in human fetuses; in most people they disappear before birth.
A wide variety of other health problems occur in some people with Kabuki syndrome. Among the most commonly reported are heart abnormalities, frequent ear infections (otitis media), hearing loss, and early puberty.
MalaCards based summary : Kabuki Syndrome 1, also known as kabuki syndrome, is related to charge syndrome and leukemia, acute myeloid. An important gene associated with Kabuki Syndrome 1 is KMT2D (Lysine Methyltransferase 2D), and among its related pathways/superpathways are Lysine degradation and Chromatin organization. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and kidney, and related phenotypes are macrotia and abnormal dermatoglyphics Disease Ontology : 12 A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. NIH Rare Diseases : 52 Kabuki syndrome is a rare disorder that affects multiple parts of the body. It is present from birth. Specific symptoms and severity can vary. Features often include a characteristic facial appearance; skeletal abnormalities; short stature ; heart defects; and intellectual disability . Other signs and symptoms may include seizures , microcephaly , weak muscle tone (hypotonia ), eye problems, cleft palate , and dental problems. A variety of other health problems may also occur. Kabuki syndrome is most often caused by a mutation in the KMT2D gene , and inherited in an autosomal dominant manner. Some cases are due to a mutation in the KDM6A gene and are inherited in an X-linked dominant manner. Treatment is focused on the specific signs and symptoms in each affected person. OMIM : 56 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). (147920) KEGG : 36 Kabuki syndrome, or Kabuki make-up syndrome, is a multiple malformation/mental retardation syndrome that is inherited in an autosomal dominant manner. Patients often have long palpebral fissures with eversion of the lateral one-third of the lower eyelids and arched and broad eyebrows that resemble the make-up of actors in Kabuki, the traditional Japanese play. Other features include postnatal growth delay during the first year of life, persistent fetal fingertip pads, congenital heart defects, and skeletal anomalies such as the absence of digital triradius c and/or d. UniProtKB/Swiss-Prot : 73 Kabuki syndrome 1: 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, 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. Wikipedia : 74 Kabuki syndrome (also previously known as Kabuki-makeup syndrome (KMS) or Niikawa-Kuroki syndrome) is a... more...
GeneReviews:
NBK62111
|
Human phenotypes related to Kabuki Syndrome 1:58 31 (show top 50) (show all 97)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:147920GenomeRNAi Phenotypes related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:26 (show all 20)
MGI Mouse Phenotypes related to Kabuki Syndrome 1:45
|
Drugs for Kabuki Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 8)
Interventional clinical trials:
Cochrane evidence based reviews: kabuki syndrome |
MalaCards organs/tissues related to Kabuki Syndrome 1:40
Eye,
Heart,
Kidney,
Skin,
Brain,
Testes,
Lung
|
Articles related to Kabuki Syndrome 1:(show top 50) (show all 439)
|
|
- Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Kabuki Syndrome 1:6 (show top 50) (show all 738)
UniProtKB/Swiss-Prot genetic disease variations for Kabuki Syndrome 1:73 (show all 13)
Copy number variations for Kabuki Syndrome 1 from CNVD:7
|
|
Search
GEO
for disease gene expression data for Kabuki Syndrome 1.
|
Pathways related to Kabuki Syndrome 1 according to KEGG:36
Pathways related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:
|
Cellular components related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:(show all 18)
Molecular functions related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:
|
|