MRD19
MCID: ATS417
MIFTS: 28

Autosomal Dominant Non-Syndromic Intellectual Disability 19 (MRD19)

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

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 19

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 19:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 19 12 15
Mental Retardation, Autosomal Dominant, Type 19 39
Autosomal Dominant Mental Retardation 19 12
Mrd19 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070049

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 19

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 19, also known as mental retardation, autosomal dominant, type 19, is related to neurodevelopmental disorder with spastic diplegia and visual defects and uterus perivascular epithelioid cell tumor. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 19 is PTCHD3 (Patched Domain Containing 3), and among its related pathways/superpathways are ERK Signaling and HIV Life Cycle. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 19

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 27
Syngap1-Related Non-Syndromic Intellectual Disability

Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 19 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder with spastic diplegia and visual defects 11.5
2 uterus perivascular epithelioid cell tumor 10.2 TFE3 MITF
3 perivascular epithelioid cell tumor 10.2 TFE3 MITF
4 clear cell papillary renal cell carcinoma 10.2 TFE3 MITF
5 childhood kidney cell carcinoma 10.2 TFE3 MITF
6 heritable thoracic aortic disease 10.2 SMAD4 SMAD3
7 waardenburg syndrome, type 2c 10.1 TFE3 MITF
8 hypomelanosis of ito 10.0 MITF AKT3
9 hypertrophic scars 10.0 SMAD3 SMAD2
10 waardenburg syndrome, type 2a 10.0 TFE3 MITF
11 hemimegalencephaly 9.9 CTNNB1 AKT3
12 loeys-dietz syndrome 3 9.9 SMAD3 SMAD2
13 loeys-dietz syndrome 4 9.9 SMAD3 SMAD2
14 nephrogenic systemic fibrosis 9.9 SMAD4 SMAD3 SMAD2
15 ureteral disease 9.9 SMAD4 SMAD3 SMAD2
16 clear cell adenocarcinoma 9.9 SMAD4 SMAD3 SMAD2
17 aortic aneurysm, familial thoracic 1 9.8 SMAD4 SMAD3 SMAD2
18 loeys-dietz syndrome 9.8 SMAD4 SMAD3 SMAD2
19 renal cell carcinoma, papillary, 1 9.8 TFE3 MITF CTNNB1
20 melanoma, cutaneous malignant 1 9.6 MITF CTNNB1 AKT3
21 peyronie's disease 9.6 SMAD4 SMAD3 HLA-A
22 cowden syndrome 9.6 SMAD4 AKT3 AKT2
23 microphthalmia 9.3 TFE3 MITF EP300 CTNNB1
24 pancreatic adenocarcinoma 9.0 SMAD4 SMAD3 SMAD2 CTNNB1 AKT2
25 t-cell leukemia 8.7 SMAD4 SMAD2 HLA-A EP300
26 endometrial cancer 8.4 SMAD4 SMAD3 SMAD2 EP300 CTNNB1 AKT3
27 pancreatic cancer 8.4 SMAD4 SMAD3 SMAD2 EP300 CTNNB1 AKT3
28 albinism, ocular, with late-onset sensorineural deafness 6.6 TFE3 SMAD4 SMAD3 SMAD2 PTCHD3 MITF

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 19:



Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 19

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 19

GenomeRNAi Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 19 according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.86 DDB1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.86 AKT2 CTNNB1 DDB1 SMAD2 SMAD4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.86 DDB1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.86 DDB1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-172 9.86 SMAD2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.86 CTNNB1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.86 SMAD4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.86 SMAD2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.86 SMAD4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.86 DDB1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.86 AKT2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.86 CTNNB1
13 Increased mitotic index GR00110-A-0 8.92 AKT2 AKT3 SMAD2 SMAD4

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 19:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 ABR AKT2 AKT3 CTNNB1 DDB1 EP300
2 growth/size/body region MP:0005378 10.13 AKT2 AKT3 CTNNB1 EP300 MITF SMAD2
3 hematopoietic system MP:0005397 10.11 AKT2 AKT3 CTNNB1 EP300 MITF SMAD2
4 endocrine/exocrine gland MP:0005379 10.1 AKT2 AKT3 CTNNB1 EP300 MITF SMAD2
5 immune system MP:0005387 10.09 AKT2 AKT3 CTNNB1 EP300 MITF SMAD2
6 mortality/aging MP:0010768 10.06 ABR AKT2 AKT3 CTNNB1 DDB1 EP300
7 craniofacial MP:0005382 10.05 CTNNB1 EP300 MITF SMAD2 SMAD3 SMAD4
8 integument MP:0010771 9.95 AKT2 CTNNB1 MITF SMAD2 SMAD3 SMAD4
9 liver/biliary system MP:0005370 9.85 AKT2 CTNNB1 MITF SMAD2 SMAD3 SMAD4
10 nervous system MP:0003631 9.85 ABR AKT2 AKT3 CTNNB1 DDB1 EP300
11 neoplasm MP:0002006 9.8 AKT2 AKT3 CTNNB1 EP300 SMAD2 SMAD3
12 normal MP:0002873 9.61 ABR AKT2 AKT3 CTNNB1 EP300 MITF
13 vision/eye MP:0005391 9.17 CTNNB1 DDB1 EP300 MITF SMAD2 SMAD3

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 19

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 19

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 19

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 19

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 19

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 19

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 19

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 19.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 19

Pathways related to Autosomal Dominant Non-Syndromic Intellectual Disability 19 according to GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 SMAD4 SMAD3 SMAD2 EP300 CTNNB1 AKT3
2
Show member pathways
13.66 SMAD4 SMAD3 SMAD2 HLA-A EP300 CTNNB1
3
Show member pathways
13.45 SMAD4 SMAD3 SMAD2 EP300 CTNNB1 AKT3
4
Show member pathways
12.99 SMAD4 SMAD3 SMAD2 EP300 DDB1 CTNNB1
5
Show member pathways
12.95 HLA-A EP300 CTNNB1 AKT3 AKT2
6
Show member pathways
12.91 HLA-A EP300 DDB1 CTNNB1 AKT3 AKT2
7
Show member pathways
12.81 SMAD4 SMAD3 SMAD2 EP300 CTNNB1 AKT3
8
Show member pathways
12.75 SMAD4 SMAD3 SMAD2 CTNNB1 AKT3 AKT2
9
Show member pathways
12.63 SMAD2 EP300 AKT3 AKT2
10
Show member pathways
12.63 MITF EP300 AKT3 AKT2
11
Show member pathways
12.58 TFE3 EP300 AKT3 AKT2
12
Show member pathways
12.56 SMAD3 EP300 CTNNB1 AKT3 AKT2
13
Show member pathways
12.51 SMAD4 SMAD3 EP300 CTNNB1
14
Show member pathways
12.49 SMAD4 SMAD3 SMAD2 CTNNB1
15 12.48 SMAD4 SMAD3 SMAD2 MITF EP300 CTNNB1
16
Show member pathways
12.42 SMAD4 SMAD3 SMAD2 CTNNB1 AKT3 AKT2
17 12.35 SMAD4 SMAD3 SMAD2 EP300
18
Show member pathways
12.34 SMAD4 SMAD3 SMAD2 EP300
19 12.3 SMAD2 CTNNB1 AKT3 AKT2
20
Show member pathways
12.29 EP300 AKT3 AKT2
21 12.24 SMAD4 SMAD3 SMAD2 CTNNB1
22
Show member pathways
12.23 SMAD3 SMAD2 AKT3 AKT2
23 12.18 SMAD4 SMAD3 SMAD2 CTNNB1
24 12.18 SMAD3 SMAD2 HLA-A AKT3 AKT2
25
Show member pathways
12.16 EP300 AKT3 AKT2
26
Show member pathways
12.16 CTNNB1 AKT3 AKT2
27 12.15 SMAD4 SMAD2 EP300 CTNNB1
28 12.15 SMAD4 SMAD3 SMAD2 CTNNB1
29
Show member pathways
12.12 SMAD3 EP300 CTNNB1 AKT3 AKT2
30 12.08 SMAD4 SMAD3 SMAD2 EP300
31
Show member pathways
12.08 SMAD4 SMAD3 EP300 AKT3 AKT2
32 12.07 SMAD4 SMAD3 SMAD2 AKT3 AKT2
33 12.06 CTNNB1 AKT3 AKT2
34
Show member pathways
12.03 SMAD4 SMAD3 SMAD2
35 12.02 EP300 CTNNB1 AKT3 AKT2
36 12.01 MITF AKT3 AKT2
37
Show member pathways
12 CTNNB1 AKT3 AKT2
38 11.99 CTNNB1 AKT3 AKT2
39 11.94 CTNNB1 AKT3 AKT2
40 11.94 EP300 AKT3 AKT2
41 11.94 SMAD4 SMAD3 CTNNB1 AKT3 AKT2
42 11.92 EP300 AKT3 AKT2
43 11.91 SMAD4 SMAD3 SMAD2 EP300
44 11.88 SMAD4 SMAD3 EP300 CTNNB1
45 11.88 SMAD4 SMAD3 SMAD2 CTNNB1 AKT3 AKT2
46
Show member pathways
11.86 SMAD4 SMAD3 SMAD2
47 11.84 SMAD4 SMAD3 SMAD2 HLA-A EP300 AKT3
48
Show member pathways
11.8 EP300 AKT3 AKT2
49 11.8 SMAD4 SMAD3 SMAD2 AKT3 AKT2
50 11.79 SMAD4 SMAD3 EP300

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 19

Cellular components related to Autosomal Dominant Non-Syndromic Intellectual Disability 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.02 TFE3 SMAD4 SMAD3 SMAD2 MITF EP300
2 nuclear chromatin GO:0000790 9.83 TFE3 SMAD4 SMAD3 SMAD2 MITF
3 transcription factor complex GO:0005667 9.55 SMAD4 SMAD3 SMAD2 EP300 CTNNB1
4 protein-containing complex GO:0032991 9.5 SMAD3 SMAD2 MITF EP300 DDB1 CTNNB1
5 postsynaptic density, intracellular component GO:0099092 9.4 CTNNB1 ABR
6 activin responsive factor complex GO:0032444 9.32 SMAD4 SMAD2
7 heteromeric SMAD protein complex GO:0071144 9.26 SMAD3 SMAD2
8 SMAD protein complex GO:0071141 8.8 SMAD4 SMAD3 SMAD2

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability 19 according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.15 TFE3 SMAD4 SMAD3 SMAD2 MITF EP300
2 regulation of transcription by RNA polymerase II GO:0006357 10.06 SMAD4 SMAD3 MITF EP300 CTNNB1
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 TFE3 SMAD4 SMAD3 SMAD2 MITF EP300
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.01 SMAD4 SMAD3 SMAD2 MITF EP300 CTNNB1
5 negative regulation of apoptotic process GO:0043066 9.99 SMAD3 MITF DDB1 CTNNB1 AKT2
6 negative regulation of cell proliferation GO:0008285 9.97 SMAD4 SMAD3 SMAD2 CTNNB1
7 positive regulation of gene expression GO:0010628 9.97 SMAD3 SMAD2 MITF EP300 CTNNB1
8 intracellular signal transduction GO:0035556 9.96 SMAD4 SMAD2 AKT3 AKT2 ABR
9 protein deubiquitination GO:0016579 9.91 SMAD4 SMAD3 SMAD2 EP300
10 in utero embryonic development GO:0001701 9.88 SMAD4 SMAD3 SMAD2 CTNNB1
11 response to hypoxia GO:0001666 9.86 SMAD4 SMAD3 EP300
12 positive regulation of DNA-binding transcription factor activity GO:0051091 9.82 SMAD3 EP300 CTNNB1
13 transforming growth factor beta receptor signaling pathway GO:0007179 9.81 SMAD4 SMAD3 SMAD2
14 lung development GO:0030324 9.81 SMAD2 EP300 CTNNB1
15 positive regulation of transcription, DNA-templated GO:0045893 9.8 TFE3 SMAD4 SMAD3 SMAD2 MITF EP300
16 SMAD protein signal transduction GO:0060395 9.75 SMAD4 SMAD3 SMAD2
17 gastrulation GO:0007369 9.69 SMAD4 SMAD3 SMAD2
18 embryonic pattern specification GO:0009880 9.68 SMAD3 SMAD2
19 adrenal gland development GO:0030325 9.67 SMAD3 SMAD2
20 signal transduction involved in regulation of gene expression GO:0023019 9.67 SMAD3 SMAD2
21 endoderm development GO:0007492 9.67 SMAD4 SMAD3 SMAD2
22 gastrulation with mouth forming second GO:0001702 9.66 SMAD4 CTNNB1
23 activin receptor signaling pathway GO:0032924 9.65 SMAD3 SMAD2
24 positive regulation of histone H3-K4 methylation GO:0051571 9.65 SMAD4 CTNNB1
25 secondary palate development GO:0062009 9.64 SMAD4 SMAD2
26 nodal signaling pathway GO:0038092 9.63 SMAD3 SMAD2
27 endoderm formation GO:0001706 9.62 SMAD2 CTNNB1
28 pericardium development GO:0060039 9.62 SMAD3 SMAD2
29 primary miRNA processing GO:0031053 9.61 SMAD3 SMAD2
30 developmental growth GO:0048589 9.61 SMAD4 SMAD3 SMAD2
31 positive regulation of DNA-templated transcription, initiation GO:2000144 9.6 MITF CTNNB1
32 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.58 SMAD4 SMAD3 SMAD2
33 regulation of transforming growth factor beta2 production GO:0032909 9.55 SMAD4 SMAD3
34 regulation of osteoclast differentiation GO:0045670 9.54 TFE3 MITF CTNNB1
35 canonical Wnt signaling pathway involved in negative regulation of apoptotic process GO:0044336 9.52 MITF CTNNB1
36 embryonic foregut morphogenesis GO:0048617 9.5 SMAD3 SMAD2 CTNNB1
37 paraxial mesoderm morphogenesis GO:0048340 9.46 SMAD3 SMAD2
38 positive regulation of epithelial to mesenchymal transition GO:0010718 9.46 SMAD4 SMAD3 SMAD2 CTNNB1
39 SMAD protein complex assembly GO:0007183 9.13 SMAD4 SMAD3 SMAD2
40 regulation of binding GO:0051098 8.8 SMAD4 SMAD3 SMAD2

Molecular functions related to Autosomal Dominant Non-Syndromic Intellectual Disability 19 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.1 TFE3 SMAD4 SMAD3 SMAD2 MITF EP300
2 DNA-binding transcription factor activity GO:0003700 9.93 TFE3 SMAD4 SMAD3 SMAD2 MITF CTNNB1
3 transcription factor binding GO:0008134 9.85 SMAD3 SMAD2 EP300 CTNNB1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.72 TFE3 SMAD4 SMAD3 SMAD2 MITF
5 transcription coregulator activity GO:0003712 9.69 SMAD4 SMAD3 EP300
6 RNA polymerase II transcription factor binding GO:0001085 9.65 SMAD4 EP300 CTNNB1
7 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.63 TFE3 SMAD4 SMAD3 SMAD2 MITF EP300
8 RNA polymerase II activating transcription factor binding GO:0001102 9.58 SMAD3 EP300 CTNNB1
9 nuclear hormone receptor binding GO:0035257 9.57 EP300 CTNNB1
10 enhancer binding GO:0035326 9.54 SMAD3 SMAD2
11 SMAD binding GO:0046332 9.54 SMAD3 SMAD2 CTNNB1
12 co-SMAD binding GO:0070410 9.52 SMAD3 SMAD2
13 primary miRNA binding GO:0070878 9.49 SMAD3 SMAD2
14 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 9.43 SMAD3 SMAD2
15 R-SMAD binding GO:0070412 9.43 SMAD4 SMAD3 SMAD2
16 chromatin binding GO:0003682 9.43 SMAD4 SMAD3 SMAD2 MITF EP300 CTNNB1
17 I-SMAD binding GO:0070411 8.8 SMAD4 SMAD2 CTNNB1

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 19

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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