MCID: RRS015
MIFTS: 9

Rare Syndromic Intellectual Disability

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rare Syndromic Intellectual Disability

MalaCards integrated aliases for Rare Syndromic Intellectual Disability:

Name: Rare Syndromic Intellectual Disability 58 6

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA102369

Summaries for Rare Syndromic Intellectual Disability

MalaCards based summary : Rare Syndromic Intellectual Disability is related to x-linked intellectual disability-plagiocephaly syndrome and neurodegeneration, childhood-onset, with brain atrophy. An important gene associated with Rare Syndromic Intellectual Disability is ATXN7L3-AS1 (ATXN7L3 Antisense RNA 1).

Related Diseases for Rare Syndromic Intellectual Disability

Diseases in the Syndromic Intellectual Disability family:

Rare Syndromic Intellectual Disability

Diseases related to Rare Syndromic Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 x-linked intellectual disability-plagiocephaly syndrome 11.1
2 neurodegeneration, childhood-onset, with brain atrophy 9.5 UBTF ATXN7L3-AS1

Symptoms & Phenotypes for Rare Syndromic Intellectual Disability

Drugs & Therapeutics for Rare Syndromic Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Rare Syndromic Intellectual Disability

Genetic Tests for Rare Syndromic Intellectual Disability

Anatomical Context for Rare Syndromic Intellectual Disability

Publications for Rare Syndromic Intellectual Disability

Articles related to Rare Syndromic Intellectual Disability:

(showing 5, show less)
# Title Authors PMID Year
1
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature. 6
31931739 2020
2
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood. 6
30517966 2019
3
A recurrent de novo missense mutation in UBTF causes developmental neuroregression. 6
29300972 2018
4
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. 6
28777933 2017
5
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. 6
28191890 2017

Variations for Rare Syndromic Intellectual Disability

ClinVar genetic disease variations for Rare Syndromic Intellectual Disability:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATXN7L3-AS1 , UBTF NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) SNV Pathogenic 437909 rs1555582065 GRCh37: 17:42290219-42290219
GRCh38: 17:44212851-44212851

Expression for Rare Syndromic Intellectual Disability

Search GEO for disease gene expression data for Rare Syndromic Intellectual Disability.

Pathways for Rare Syndromic Intellectual Disability

GO Terms for Rare Syndromic Intellectual Disability

Sources for Rare Syndromic Intellectual Disability

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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