MCID: RBN007
MIFTS: 20

Rubinstein Taybi Like Syndrome

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Rubinstein Taybi Like Syndrome

MalaCards integrated aliases for Rubinstein Taybi Like Syndrome:

Name: Rubinstein Taybi Like Syndrome 20 6
Broad Terminal Phalanges of the Thumbs and Great Toes, Antimongoloid Slant of the Palpebral Fissures, and Characteristic Beaked Noses 20

Classifications:



Summaries for Rubinstein Taybi Like Syndrome

MalaCards based summary : Rubinstein Taybi Like Syndrome, also known as broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses, is related to chromosome 16p13.3 deletion syndrome, proximal and multiple pterygium syndrome, escobar variant. An important gene associated with Rubinstein Taybi Like Syndrome is ASXL1 (ASXL Transcriptional Regulator 1), and among its related pathways/superpathways are PKMTs methylate histone lysines and Lysine degradation. Related phenotypes are craniofacial and neoplasm

Related Diseases for Rubinstein Taybi Like Syndrome

Graphical network of the top 20 diseases related to Rubinstein Taybi Like Syndrome:



Diseases related to Rubinstein Taybi Like Syndrome

Symptoms & Phenotypes for Rubinstein Taybi Like Syndrome

MGI Mouse Phenotypes related to Rubinstein Taybi Like Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 ASXL1 KMT2A KMT2D
2 neoplasm MP:0002006 8.8 ASXL1 KMT2A KMT2D

Drugs & Therapeutics for Rubinstein Taybi Like Syndrome

Search Clinical Trials , NIH Clinical Center for Rubinstein Taybi Like Syndrome

Genetic Tests for Rubinstein Taybi Like Syndrome

Anatomical Context for Rubinstein Taybi Like Syndrome

Publications for Rubinstein Taybi Like Syndrome

Articles related to Rubinstein Taybi Like Syndrome:

# Title Authors PMID Year
1
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders. 6
30806792 2019
2
A case with some clinical findings overlapping to Rubinstein-Taybi, Rubinstein-Taybi-like syndrome or multiple pterygium syndrome: coincidental findings or a new entity? 61
11432500 2001

Variations for Rubinstein Taybi Like Syndrome

ClinVar genetic disease variations for Rubinstein Taybi Like Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASXL1 NM_015338.6(ASXL1):c.3856C>T (p.Gln1286Ter) SNV Likely pathogenic 982208 20:31024371-31024371 20:32436568-32436568
2 ASXL1 NM_015338.6(ASXL1):c.4243C>T SNV Likely pathogenic 488969 rs754129466 20:31024758-31024758 20:32436955-32436955
3 KMT2A NM_001197104.2(KMT2A):c.5363+1del Deletion Likely pathogenic 982209 11:118365483-118365483 11:118494768-118494768
4 KMT2D NM_003482.4(KMT2D):c.6040C>T (p.Gln2014Ter) SNV Likely pathogenic 982210 12:49435941-49435941 12:49042158-49042158

Expression for Rubinstein Taybi Like Syndrome

Search GEO for disease gene expression data for Rubinstein Taybi Like Syndrome.

Pathways for Rubinstein Taybi Like Syndrome

Pathways related to Rubinstein Taybi Like Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.11 KMT2D KMT2A
2 10.42 KMT2D KMT2A

GO Terms for Rubinstein Taybi Like Syndrome

Cellular components related to Rubinstein Taybi Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone methyltransferase complex GO:0035097 8.62 KMT2D KMT2A

Biological processes related to Rubinstein Taybi Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.61 KMT2D KMT2A ASXL1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.58 KMT2D KMT2A ASXL1
3 methylation GO:0032259 9.46 KMT2D KMT2A
4 chromatin organization GO:0006325 9.43 KMT2D KMT2A ASXL1
5 regulation of megakaryocyte differentiation GO:0045652 9.37 KMT2D KMT2A
6 histone H3-K4 methylation GO:0051568 9.32 KMT2D KMT2A
7 histone H3-K4 trimethylation GO:0080182 9.16 KMT2D KMT2A
8 histone H3-K4 monomethylation GO:0097692 8.96 KMT2D KMT2A
9 histone H3-K4 dimethylation GO:0044648 8.62 KMT2D KMT2A

Molecular functions related to Rubinstein Taybi Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.43 KMT2D KMT2A ASXL1
2 transcription coactivator activity GO:0003713 9.16 KMT2D ASXL1
3 methyltransferase activity GO:0008168 8.96 KMT2D KMT2A
4 histone methyltransferase activity (H3-K4 specific) GO:0042800 8.62 KMT2D KMT2A

Sources for Rubinstein Taybi Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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