RATARS
MCID: RDT018
MIFTS: 8

Radio-Tartaglia Syndrome (RATARS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Radio-Tartaglia Syndrome

MalaCards integrated aliases for Radio-Tartaglia Syndrome:

Name: Radio-Tartaglia Syndrome 57
Ratars 57

Classifications:



External Ids:

OMIM® 57 619312

Summaries for Radio-Tartaglia Syndrome

OMIM® : 57 Radio-Tartaglia syndrome (RATARS) is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show hypotonia, mild motor difficulties, and craniofacial dysmorphism. Brain imaging may show nonspecific defects; rare patients have seizures or pyramidal signs. A subset of individuals may have congenital heart defects, precocious puberty, and obesity in females. Some of the features are similar to those observed in patients with chromosome 1p36 deletion syndrome (607872) (summary by Radio et al., 2021). (619312) (Updated 20-May-2021)

MalaCards based summary : Radio-Tartaglia Syndrome, also known as ratars, is related to chromosome 1p36 deletion syndrome. An important gene associated with Radio-Tartaglia Syndrome is SPEN (Spen Family Transcriptional Repressor).

Related Diseases for Radio-Tartaglia Syndrome

Diseases related to Radio-Tartaglia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 1p36 deletion syndrome 11.3

Symptoms & Phenotypes for Radio-Tartaglia Syndrome

Clinical features from OMIM®:

619312 (Updated 20-May-2021)

Drugs & Therapeutics for Radio-Tartaglia Syndrome

Search Clinical Trials , NIH Clinical Center for Radio-Tartaglia Syndrome

Genetic Tests for Radio-Tartaglia Syndrome

Anatomical Context for Radio-Tartaglia Syndrome

Publications for Radio-Tartaglia Syndrome

Articles related to Radio-Tartaglia Syndrome:

# Title Authors PMID Year
1
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. 57
33596411 2021

Variations for Radio-Tartaglia Syndrome

Expression for Radio-Tartaglia Syndrome

Search GEO for disease gene expression data for Radio-Tartaglia Syndrome.

Pathways for Radio-Tartaglia Syndrome

GO Terms for Radio-Tartaglia Syndrome

Sources for Radio-Tartaglia 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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