Aliases & Classifications for Kat6b Disorders

MalaCards integrated aliases for Kat6b Disorders:

Name: Kat6b Disorders 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance appears to be complete since all individuals reported to date who carry a kat6b pathogenic variant present a phenotype compatible with kat6b disorders.

Summaries for Kat6b Disorders

MalaCards based summary : Kat6b Disorders is related to genitopatellar syndrome and cleft palate, isolated. An important gene associated with Kat6b Disorders is KAT6B (Lysine Acetyltransferase 6B). Affiliated tissues include heart.

Wikipedia : 74 K(lysine) acetyltransferase 6B (KAT6B) is an enzyme that in humans is encoded by the KAT6B... more...

GeneReviews: NBK114806

Related Diseases for Kat6b Disorders

Graphical network of the top 20 diseases related to Kat6b Disorders:



Diseases related to Kat6b Disorders

Symptoms & Phenotypes for Kat6b Disorders

Drugs & Therapeutics for Kat6b Disorders

Search Clinical Trials , NIH Clinical Center for Kat6b Disorders

Genetic Tests for Kat6b Disorders

Anatomical Context for Kat6b Disorders

MalaCards organs/tissues related to Kat6b Disorders:

40
Heart

Publications for Kat6b Disorders

Articles related to Kat6b Disorders:

(show all 33)
# Title Authors PMID Year
1
Genitopatellar Syndrome Secondary to De NovoKAT6B Mutation: The First Genetically Confirmed Case in South Korea. 24
30900427 2019
2
Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. 24
30353918 2019
3
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? 24
28857140 2019
4
Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature. 24
31131026 2019
5
Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association. 24
30084242 2018
6
Genitopatellar syndrome: the first reported case in Japan. 24
29899993 2018
7
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. 24
28696035 2017
8
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion. 24
27880066 2017
9
Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family. 24
28758091 2017
10
A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome. 24
27696664 2017
11
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. 24
27452416 2017
12
Timing, rates and spectra of human germline mutation. 24
26656846 2016
13
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. 24
26334766 2015
14
Further delineation of the KAT6B molecular and phenotypic spectrum. 24
25424711 2015
15
MOZ and MORF acetyltransferases: Molecular interaction, animal development and human disease. 24
25920810 2015
16
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. 24
23436491 2013
17
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. 24
22715153 2012
18
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. 24
22577224 2012
19
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. 24
22265014 2012
20
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. 24
22265017 2012
21
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 24
22077973 2011
22
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. 24
21804188 2011
23
ING tumor suppressor proteins are critical regulators of chromatin acetylation required for genome expression and perpetuation. 24
16387653 2006
24
Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. 24
12868473 2003
25
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. 24
10882755 2000
26
Vertical transmission of the Ohdo blepharophimosis syndrome. 24
9605288 1998
27
Dubowitz syndrome: review of 141 cases including 36 previously unreported patients. 24
8723121 1996
28
The Ohdo blepharophimosis syndrome: a third case. 24
2002485 1991
29
Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation. 24
3430551 1987
30
Mental retardation with blepharophimosis. 24
3656379 1987
31
Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. 24
3723552 1986
32
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. 61
32424177 2020
33
KAT6B Disorders 61
23236640 2012

Variations for Kat6b Disorders

Expression for Kat6b Disorders

Search GEO for disease gene expression data for Kat6b Disorders.

Pathways for Kat6b Disorders

GO Terms for Kat6b Disorders

Sources for Kat6b Disorders

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72 UMLS via Orphanet
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