MCID: KT6001
MIFTS: 6

Kat6b-Related Disorders

Aliases & Classifications for Kat6b-Related Disorders

MalaCards integrated aliases for Kat6b-Related Disorders:

Name: Kat6b-Related Disorders 25

Characteristics:

GeneReviews:

25
Penetrance Kat6b alleles with truncating pathogenic variants have a high penetrance. truncating variants are not found in polymorphism databases, and all family members with truncating variants reported have findings of gps or sbbyss [campeau et al 2012a, simpson et al 2012]...

Summaries for Kat6b-Related Disorders

MalaCards based summary : Kat6b-Related Disorders is related to genitopatellar syndrome and blepharophimosis intellectual disability syndromes. An important gene associated with Kat6b-Related Disorders is KAT6B (Lysine Acetyltransferase 6B).

GeneReviews: NBK114806

Related Diseases for Kat6b-Related Disorders

Diseases related to Kat6b-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 genitopatellar syndrome 10.3
2 blepharophimosis intellectual disability syndromes 10.1

Symptoms & Phenotypes for Kat6b-Related Disorders

Drugs & Therapeutics for Kat6b-Related Disorders

Search Clinical Trials , NIH Clinical Center for Kat6b-Related Disorders

Genetic Tests for Kat6b-Related Disorders

Anatomical Context for Kat6b-Related Disorders

Publications for Kat6b-Related Disorders

Articles related to Kat6b-Related Disorders:

# Title Authors Year
1
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders. ( 30569622 )
2019
2
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. ( 29226580 )
2018
3
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. ( 28696035 )
2017
4
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion. ( 27880066 )
2016
5
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. ( 22715153 )
2012
6
KAT6B-Related Disorders ( 23236640 )
1993

Variations for Kat6b-Related Disorders

Expression for Kat6b-Related Disorders

Search GEO for disease gene expression data for Kat6b-Related Disorders.

Pathways for Kat6b-Related Disorders

GO Terms for Kat6b-Related Disorders

Sources for Kat6b-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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