MCID: KT6001
MIFTS: 5

Kat6b-Related Disorders

Aliases & Classifications for Kat6b-Related Disorders

MalaCards integrated aliases for Kat6b-Related Disorders:

Name: Kat6b-Related Disorders 24

Characteristics:

GeneReviews:

24
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 10.1
2 blepharophimosis intellectual disability syndromes 9.9

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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