MCID: RBN007
MIFTS: 9

Rubinstein Taybi Like Syndrome

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

Aliases & Classifications for Rubinstein Taybi Like Syndrome

MalaCards integrated aliases for Rubinstein Taybi Like Syndrome:

Name: Rubinstein Taybi Like Syndrome 50
Broad Terminal Phalanges of the Thumbs and Great Toes, Antimongoloid Slant of the Palpebral Fissures, and Characteristic Beaked Noses 50

Classifications:



Summaries for Rubinstein Taybi Like Syndrome

MalaCards based summary : Rubinstein Taybi Like Syndrome, is also known as broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses. The drugs Valproic Acid and Anticonvulsants have been mentioned in the context of this disorder.

Related Diseases for Rubinstein Taybi Like Syndrome

Symptoms & Phenotypes for Rubinstein Taybi Like Syndrome

Drugs & Therapeutics for Rubinstein Taybi Like Syndrome

Drugs for Rubinstein Taybi Like Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
2 Anticonvulsants Phase 2
3 Antimanic Agents Phase 2
4 Central Nervous System Depressants Phase 2
5 GABA Agents Phase 2
6 Histone Deacetylase Inhibitors Phase 2
7 Neurotransmitter Agents Phase 2
8 Psychotropic Drugs Phase 2
9 Tranquilizing Agents Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo

Search 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

Variations for Rubinstein Taybi Like Syndrome

Expression for Rubinstein Taybi Like Syndrome

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

Pathways for Rubinstein Taybi Like Syndrome

GO Terms for Rubinstein Taybi Like Syndrome

Sources for Rubinstein Taybi Like Syndrome

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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