Syndromic Telecanthus disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Syndromic Telecanthus

MalaCards integrated aliases for Syndromic Telecanthus:

Name: Syndromic Telecanthus ⁵⁸

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital malformations of eyelid, lacrimal apparatus and orbit

Other congenital malformations of eyelid

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

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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.

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Related Diseases for Syndromic Telecanthus

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

#	Related Disease	Score
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

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Symptoms & Phenotypes for Syndromic Telecanthus

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Drugs & Therapeutics for Syndromic Telecanthus

Search Clinical Trials , NIH Clinical Center for Syndromic Telecanthus

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Genetic Tests for Syndromic Telecanthus

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Anatomical Context for Syndromic Telecanthus

MalaCards organs/tissues related to Syndromic Telecanthus:

⁴⁰

Eye

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Publications for Syndromic Telecanthus

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Genes for Syndromic Telecanthus

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Variations for Syndromic Telecanthus

ClinVar genetic disease variations for Syndromic Telecanthus:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

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

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Expression for Syndromic Telecanthus

Search GEO for disease gene expression data for Syndromic Telecanthus.

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Pathways for Syndromic Telecanthus

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GO Terms for Syndromic Telecanthus

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Sources for Syndromic Telecanthus

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia