MCID: KT6001
MIFTS: 5

Kat6b-Related Disorders malady

Categories: Genetic diseases

Aliases & Classifications for Kat6b-Related Disorders

Aliases & Descriptions for Kat6b-Related Disorders:

Name: Kat6b-Related Disorders 23 24

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]...

Classifications:



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:

id Related Disease Score Top Affiliating Genes
1 genitopatellar syndrome 9.8

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

Genetic tests related to Kat6b-Related Disorders:

id Genetic test Affiliating Genes
1 Kat6b-Related Disorders 24 KAT6B

Anatomical Context for Kat6b-Related Disorders

Publications for Kat6b-Related Disorders

Articles related to Kat6b-Related Disorders:

id Title Authors Year
1
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion. ( 27880066 )
2016
2
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. ( 22715153 )
2012
3
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....