MRD32
MCID: ATS476
MIFTS: 21

Autosomal Dominant Non-Syndromic Intellectual Disability 32 (MRD32)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 32

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 32:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 32 12 15
Mental Retardation, Autosomal Dominant, Type 32 39
Autosomal Dominant Mental Retardation 32 12
Mrd32 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070062

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 32

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of KAT6A on chromosome 8p11.21.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 32, also known as mental retardation, autosomal dominant, type 32, is related to arboleda-tham syndrome and mecp2 disorders. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 32 is KAT6A (Lysine Acetyltransferase 6A), and among its related pathways/superpathways are Chromatin organization and Regulation of TP53 Activity through Acetylation. Related phenotype is embryo.

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 32

Diseases in the Non-Syndromic Intellectual Disability family:

Autosomal Dominant Non-Syndromic Intellectual Disability Autosomal Recessive Non-Syndromic Intellectual Disability
Autosomal Dominant Non-Syndromic Intellectual Disability 1 Autosomal Dominant Non-Syndromic Intellectual Disability 2
Autosomal Dominant Non-Syndromic Intellectual Disability 3 Autosomal Dominant Non-Syndromic Intellectual Disability 4
Autosomal Dominant Non-Syndromic Intellectual Disability 5 Autosomal Dominant Non-Syndromic Intellectual Disability 6
Autosomal Dominant Non-Syndromic Intellectual Disability 8 Autosomal Dominant Non-Syndromic Intellectual Disability 9
Autosomal Dominant Non-Syndromic Intellectual Disability 19 Autosomal Dominant Non-Syndromic Intellectual Disability 24
Autosomal Dominant Non-Syndromic Intellectual Disability 27 Autosomal Dominant Non-Syndromic Intellectual Disability 32
Autosomal Dominant Non-Syndromic Intellectual Disability 44 Syngap1-Related Non-Syndromic Intellectual Disability

Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 32 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 arboleda-tham syndrome 12.0
2 mecp2 disorders 10.0 MECP2 FOXG1
3 gait apraxia 9.9 MECP2 FOXG1
4 syndromic intellectual disability 9.9 MECP2 KAT6A BRPF1
5 christianson syndrome 9.9 MECP2 FOXG1
6 lubs x-linked mental retardation syndrome 9.9 MECP2 FOXG1
7 chromosome 16p13.3 deletion syndrome, proximal 9.9 MECP2 KAT6B KAT6A
8 ohdo syndrome 9.8 MEAF6 KAT6B KAT6A ING5 BRPF1
9 ohdo syndrome, sbbys variant 9.8 MEAF6 KAT6B KAT6A ING5 BRPF1
10 silo filler's disease 9.6 POTEF ACTG1
11 autosomal dominant non-syndromic intellectual disability 9.6 MECP2 KAT6A FOXG1 CHD7
12 baraitser-winter syndrome 9.6 POTEF ACTG1
13 infancy electroclinical syndrome 9.6 MECP2 FOXG1
14 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 9.5 POTEF ACTG1
15 bone structure disease 9.5 RUNX2 PES1 MECP2
16 physical disorder 9.5 PES1 MECP2 FOXG1 CHD7
17 ptosis 9.4 PES1 KAT6B BRPF1 ACTG1
18 retinitis pigmentosa 8.0 SRSF2 POTEF PES1 MECP2 FOXG1 CHD7

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 32:



Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 32

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 32

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 32:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.23 ACTG1 BRPF1 CDX4 CHD7 FOXG1 KAT6A

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 32

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 32

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 32

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 32

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 32

Articles related to Autosomal Dominant Non-Syndromic Intellectual Disability 32:

# Title Authors PMID Year
1
A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing. 61
30775047 2019
2
Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism. 61
31754438 2017

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 32

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 32

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 32.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 32

Pathways related to Autosomal Dominant Non-Syndromic Intellectual Disability 32 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.2 MEAF6 KAT6B KAT6A ING5 BRPF1
2
Show member pathways
10.58 MEAF6 KAT6A ING5 BRPF1

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 32

Cellular components related to Autosomal Dominant Non-Syndromic Intellectual Disability 32 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.1 SRSF2 RUNX2 PES1 MECP2 MEAF6 KAT6B
2 nucleoplasm GO:0005654 9.93 SRSF2 RUNX2 PES1 MECP2 MEAF6 KAT6B
3 blood microparticle GO:0072562 9.5 SERPINF2 POTEF ACTG1
4 histone acetyltransferase complex GO:0000123 9.35 MEAF6 KAT6B KAT6A ING5 BRPF1
5 MOZ/MORF histone acetyltransferase complex GO:0070776 9.02 MEAF6 KAT6B KAT6A ING5 BRPF1

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability 32 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.02 RUNX2 MECP2 KAT6B KAT6A FOXG1 CHD7
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 SERPINF2 RUNX2 KAT6B KAT6A CHD7 CDX4
3 positive regulation of transcription, DNA-templated GO:0045893 9.88 RUNX2 MECP2 KAT6B KAT6A ING5 BRPF1
4 negative regulation of transcription, DNA-templated GO:0045892 9.83 RUNX2 MECP2 KAT6B KAT6A FOXG1
5 chromatin organization GO:0006325 9.73 MEAF6 KAT6B KAT6A ING5 CHD7 BRPF1
6 regulation of signal transduction by p53 class mediator GO:1901796 9.67 MEAF6 KAT6A ING5 BRPF1
7 protein acetylation GO:0006473 9.46 KAT6A ING5
8 histone H3-K14 acetylation GO:0044154 9.33 MEAF6 ING5 BRPF1
9 histone H3-K23 acetylation GO:0043972 9.32 MEAF6 BRPF1
10 histone H3 acetylation GO:0043966 9.26 KAT6B KAT6A ING5 BRPF1
11 histone acetylation GO:0016573 9.02 MECP2 MEAF6 KAT6B KAT6A ING5

Molecular functions related to Autosomal Dominant Non-Syndromic Intellectual Disability 32 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.92 RUNX2 MECP2 KAT6B KAT6A FOXG1 CHD7
2 protein binding GO:0005515 9.6 SRSF2 SERPINF2 RUNX2 POTEF PES1 MECP2
3 acetyltransferase activity GO:0016407 9.26 KAT6B KAT6A
4 H4 histone acetyltransferase activity GO:0010485 9.16 KAT6B KAT6A
5 histone acetyltransferase activity (H3-K23 specific) GO:0043994 8.96 MEAF6 BRPF1

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 32

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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