MCID: SYN143
MIFTS: 10

Syndromic Telecanthus

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Syndromic Telecanthus

Summaries for Syndromic Telecanthus

MalaCards based summary : Syndromic Telecanthus is related to opitz-gbbb syndrome and opitz gbbb syndrome, type ii. Affiliated tissues include eye.

Related Diseases for Syndromic Telecanthus

Diseases related to Syndromic Telecanthus via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 opitz-gbbb syndrome 11.7
2 opitz gbbb syndrome, type ii 11.3
3 opitz gbbb syndrome, type i 11.3
4 krauss herman holmes syndrome 11.3
5 toe syndactyly, telecanthus, and anogenital and renal malformations 11.1

Graphical network of the top 20 diseases related to Syndromic Telecanthus:



Diseases related to Syndromic Telecanthus

Symptoms & Phenotypes for Syndromic Telecanthus

Drugs & Therapeutics for Syndromic Telecanthus

Search Clinical Trials , NIH Clinical Center for Syndromic Telecanthus

Genetic Tests for Syndromic Telecanthus

Anatomical Context for Syndromic Telecanthus

MalaCards organs/tissues related to Syndromic Telecanthus:

41
Eye

Publications for Syndromic Telecanthus

Variations for Syndromic Telecanthus

ClinVar genetic disease variations for Syndromic Telecanthus:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL11A1 NM_080629.2(COL11A1): c.4084_4101del (p.Ser1362_Pro1367del) deletion Likely pathogenic rs1553200431 1:103377736-103377753 1:102912180-102912197
2 COL5A2 NM_000393.5(COL5A2): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic rs1553517323 2:189949930-189949930 2:189085204-189085204
3 KAT6B NM_012330.4(KAT6B): c.3399_3402del (p.Arg1133fs) deletion Likely pathogenic rs1554844486 10:76784742-76784745 10:75024984-75024987
4 46;XY;t(1;9;5)(compleX)dn Translocation Likely pathogenic
5 46;XX;t(6;15)(q23;q22)dn Translocation Likely pathogenic
6 46;XX;t(5;7)(q12.2;q21.2)mat Translocation Uncertain significance

Expression for Syndromic Telecanthus

Search GEO for disease gene expression data for Syndromic Telecanthus.

Pathways for Syndromic Telecanthus

GO Terms for Syndromic Telecanthus

Sources for Syndromic Telecanthus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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