MCID: TL2001
MIFTS: 7

Telo2-Related Intellectual Disability-Neurodevelopmental Disorder

Categories: Neuronal diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Telo2-Related Intellectual Disability-Neurodevelopmental...

MalaCards integrated aliases for Telo2-Related Intellectual Disability-Neurodevelopmental Disorder:

Name: Telo2-Related Intellectual Disability-Neurodevelopmental Disorder 56
You-Hoover-Fong Syndrome 56

Classifications:



External Ids:

Orphanet 56 ORPHA488642

Summaries for Telo2-Related Intellectual Disability-Neurodevelopmental...

MalaCards based summary : Telo2-Related Intellectual Disability-Neurodevelopmental Disorder, also known as you-hoover-fong syndrome, is related to you-hoover-fong syndrome. An important gene associated with Telo2-Related Intellectual Disability-Neurodevelopmental Disorder is TELO2 (Telomere Maintenance 2). Affiliated tissues include eye.

Related Diseases for Telo2-Related Intellectual Disability-Neurodevelopmental...

Diseases related to Telo2-Related Intellectual Disability-Neurodevelopmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 you-hoover-fong syndrome 12.7

Symptoms & Phenotypes for Telo2-Related Intellectual Disability-Neurodevelopmental...

Drugs & Therapeutics for Telo2-Related Intellectual Disability-Neurodevelopmental...

Search Clinical Trials , NIH Clinical Center for Telo2-Related Intellectual Disability-Neurodevelopmental Disorder

Genetic Tests for Telo2-Related Intellectual Disability-Neurodevelopmental...

Anatomical Context for Telo2-Related Intellectual Disability-Neurodevelopmental...

MalaCards organs/tissues related to Telo2-Related Intellectual Disability-Neurodevelopmental Disorder:

39
Eye

Publications for Telo2-Related Intellectual Disability-Neurodevelopmental...

Variations for Telo2-Related Intellectual Disability-Neurodevelopmental...

ClinVar genetic disease variations for Telo2-Related Intellectual Disability-Neurodevelopmental Disorder:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TELO2 NM_016111.3(TELO2): c.1100G> T (p.Cys367Phe) single nucleotide variant Pathogenic rs202020308 GRCh37 Chromosome 16, 1550445: 1550445
2 TELO2 NM_016111.3(TELO2): c.2159A> T (p.Asp720Val) single nucleotide variant Pathogenic rs878853271 GRCh38 Chromosome 16, 1506984: 1506984
3 TELO2 NM_016111.3(TELO2): c.2296G> A (p.Val766Met) single nucleotide variant Pathogenic rs371675497 GRCh38 Chromosome 16, 1507605: 1507605
4 TELO2 NM_016111.3(TELO2): c.779C> T (p.Pro260Leu) single nucleotide variant Pathogenic rs369656775 GRCh38 Chromosome 16, 1497457: 1497457
5 TELO2 NM_016111.3(TELO2): c.1826G> A (p.Arg609His) single nucleotide variant Pathogenic/Likely pathogenic rs754162070 GRCh38 Chromosome 16, 1502986: 1502986

Expression for Telo2-Related Intellectual Disability-Neurodevelopmental...

Search GEO for disease gene expression data for Telo2-Related Intellectual Disability-Neurodevelopmental Disorder.

Pathways for Telo2-Related Intellectual Disability-Neurodevelopmental...

GO Terms for Telo2-Related Intellectual Disability-Neurodevelopmental...

Sources for Telo2-Related Intellectual Disability-Neurodevelopmental...

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
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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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