MRD24
MCID: ATS475
MIFTS: 20

Autosomal Dominant Non-Syndromic Intellectual Disability 24 (MRD24)

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

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 24

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 24:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 24 12 15
Autosomal Dominant Mental Retardation 24 12
Mrd24 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070054

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 24

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DEAF1 on chromosome 11p15.5.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 24, also known as autosomal dominant mental retardation 24, is related to vulto-van silfhout-de vries syndrome and mental retardation, autosomal dominant 13. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 24 is DEAF1 (DEAF1 Transcription Factor), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. Related phenotypes are mortality/aging and nervous system

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 24

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 24 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 vulto-van silfhout-de vries syndrome 11.5
2 mental retardation, autosomal dominant 13 10.3 DYNC1H1 DEAF1
3 erysipeloid 10.3 PSTPIP1 MEFV
4 miliaria pustulosa 10.3 PSTPIP1 LPIN2
5 charcot-marie-tooth disease, x-linked recessive, 2 10.2 SMAD9 DYNC1H1
6 pustulosis of palm and sole 10.2 PSTPIP1 LPIN2
7 wells syndrome 10.2 NLRP3 MEFV
8 sapho syndrome 10.2 PSTPIP1 LPIN2
9 periostitis 10.1 PSTPIP1 LPIN2
10 hereditary periodic fever syndrome 10.1 NLRP3 MEFV
11 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 10.1 MVK LPIN2
12 pityriasis rubra pilaris 10.1 PSTPIP1 LPIN2
13 familial cold autoinflammatory syndrome 1 10.1 NLRP3 MEFV
14 chronic meningitis 10.0 NLRP3 MEFV
15 psoriatic juvenile idiopathic arthritis 10.0 PSTPIP1 NLRP3 MEFV
16 relapsing fever 10.0 MVK MEFV
17 familial cold autoinflammatory syndrome 2 9.9 NLRP3 MVK MEFV
18 cervical adenitis 9.9 NLRP3 MVK MEFV
19 pharyngitis 9.9 NLRP3 MVK MEFV
20 peroxisomal disease 9.9 NLRP3 MVK MEFV
21 exanthem 9.9 NLRP3 MVK MEFV
22 erysipelas 9.8 MVK MEFV ELANE
23 schnitzler syndrome 9.8 NLRP3 MVK
24 chronic recurrent multifocal osteomyelitis 9.8 PSTPIP1 NLRP3 MEFV LPIN2
25 sebaceous gland disease 9.7 PSTPIP1 NLRP3 MEFV LPIN2
26 pyoderma 9.7 PSTPIP1 NLRP3 MVK MEFV
27 pyoderma gangrenosum 9.7 PSTPIP1 NLRP3 MVK MEFV
28 familial cold autoinflammatory syndrome 9.7 PSTPIP1 NLRP3 MVK MEFV
29 cinca syndrome 9.7 PSTPIP1 NLRP3 MVK MEFV
30 blau syndrome 9.7 PSTPIP1 NLRP3 MVK MEFV
31 familial mediterranean fever 9.7 PSTPIP1 NLRP3 MVK MEFV
32 behcet syndrome 9.7 PSTPIP1 NLRP3 MVK MEFV
33 cholangitis, primary sclerosing 9.7 SP100 ELANE AIRE
34 peritonitis 9.6 NLRP3 MEFV ELANE
35 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 9.5 PSTPIP1 NLRP3 MVK MEFV LPIN2
36 mevalonic aciduria 9.5 PSTPIP1 NLRP3 MVK MEFV LPIN2
37 proteasome-associated autoinflammatory syndrome 1 9.5 NLRP3 MVK MEFV ELANE
38 periodic fever, familial, autosomal dominant 9.3 PSTPIP1 NLRP3 MVK MEFV ELANE
39 muckle-wells syndrome 9.1 PSTPIP1 PRDM10 NLRP3 MVK MEFV
40 autosomal genetic disease 9.0 PRDM10 NLRP3 MEFV

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 24:



Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 24

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 24

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 24:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.9 AIRE DEAF1 DYNC1H1 ELANE HTR1A LPIN2
2 nervous system MP:0003631 9.61 AIRE DEAF1 DYNC1H1 HTR1A LPIN2 MVK
3 reproductive system MP:0005389 9.28 AIRE DYNC1H1 EIF4G3 LPIN2 MEFV MVK

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 24

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 24

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 24

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 24

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 24

Articles related to Autosomal Dominant Non-Syndromic Intellectual Disability 24:

# Title Authors PMID Year
1
Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene. 61
30451703 2019

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 24

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 24

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 24.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 24

Pathways related to Autosomal Dominant Non-Syndromic Intellectual Disability 24 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.39 PSTPIP1 NLRP3 MEFV
2
Show member pathways
10.86 PSTPIP1 NLRP3 MEFV

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 24

Cellular components related to Autosomal Dominant Non-Syndromic Intellectual Disability 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.4 XRCC6 SP100 SMAD9 PSTPIP1 NLRP3 MVK

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 behavioral fear response GO:0001662 9.16 HTR1A DEAF1
2 response to interferon-gamma GO:0034341 8.96 SP100 MEFV
3 negative regulation of inflammatory response GO:0050728 8.92 NLRP3 MVK MEFV ELANE

Molecular functions related to Autosomal Dominant Non-Syndromic Intellectual Disability 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.1 SP100 PSTPIP1 NLRP3 MVK MEFV AIRE

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 24

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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