MCID: SYN143
MIFTS: 9

Syndromic Telecanthus

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Syndromic Telecanthus

MalaCards integrated aliases for Syndromic Telecanthus:

Name: Syndromic Telecanthus 58

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q10.3
UMLS via Orphanet 72 C0423113
Orphanet 58 ORPHA98575

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

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:

40
Eye

Publications for Syndromic Telecanthus

Variations for Syndromic Telecanthus

ClinVar genetic disease variations for Syndromic Telecanthus:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(1;9;5)(compleX)dnTranslocation Likely pathogenic 267825
2 46;XX;t(6;15)(q23;q22)dnTranslocation Likely pathogenic 267867
3 COL11A1 NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)deletion Likely pathogenic 523552 rs1553200431 1:103377736-103377753 1:102912180-102912197
4 COL5A2 NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)SNV Likely pathogenic 523366 rs1553517323 2:189949930-189949930 2:189085204-189085204
5 KAT6B NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)deletion Likely pathogenic 523499 rs1554844486 10:76784742-76784745 10:75024984-75024987
6 46;XX;t(5;7)(q12.2;q21.2)matTranslocation Uncertain significance 268045

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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