MCID: KT6001
MIFTS: 4

Kat6b-Related Disorders

Aliases & Classifications for Kat6b-Related Disorders

MalaCards integrated aliases for Kat6b-Related Disorders:

Name: Kat6b-Related Disorders 23

Characteristics:

GeneReviews:

23
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. 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 10.1

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
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
2
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion. ( 27880066 )
2016
3
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. ( 22715153 )
2012
4
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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