MCID: RRS015
MIFTS: 7

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 mental retardation, x-linked, with craniofacial dysmorphism 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:

# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, with craniofacial dysmorphism 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

Variations for Rare Syndromic Intellectual Disability

ClinVar genetic disease variations for Rare Syndromic Intellectual Disability:

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