Aliases & Classifications for Telecanthus

MalaCards integrated aliases for Telecanthus:

Name: Telecanthus 57 29 6

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
telecanthus:
Inheritance autosomal dominant inheritance


Summaries for Telecanthus

MalaCards based summary : Telecanthus is related to toe syndactyly, telecanthus, and anogenital and renal malformations and microcornea, myopic chorioretinal atrophy, and telecanthus. An important gene associated with Telecanthus is ADAMTS18 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18), and among its related pathways/superpathways is Diseases of glycosylation. Affiliated tissues include eye, heart and bone, and related phenotypes are intellectual disability and telecanthus

Wikipedia : 76 Telecanthus (from the Greek word "tele" (�?�?λε) meaning far, and the Latin word canthus, meaning either... more...

Description from OMIM: 187350

Related Diseases for Telecanthus

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 toe syndactyly, telecanthus, and anogenital and renal malformations 12.5
2 microcornea, myopic chorioretinal atrophy, and telecanthus 12.5
3 opitz gbbb syndrome, type ii 11.8
4 opitz-gbbb syndrome 11.6
5 blepharophimosis 11.3
6 hypertelorism 11.3
7 nasopalpebral lipoma-coloboma syndrome 11.3
8 frontonasal dysplasia with alar clefts 11.2
9 donnai-barrow syndrome 11.2
10 opitz gbbb syndrome, type i 11.2
11 krauss herman holmes syndrome 11.2
12 blepharophimosis, ptosis, and epicanthus inversus 11.2
13 orofaciodigital syndrome viii 11.1
14 simosa craniofacial syndrome 11.0
15 fetal akinesia syndrome, x-linked 11.0
16 blepharonasofacial malformation syndrome 10.9
17 lateral meningocele syndrome 10.9
18 orofaciodigital syndrome x 10.9
19 barber-say syndrome 10.9
20 camptodactyly syndrome, guadalajara, type i 10.9
21 frontofacionasal dysplasia 10.9
22 orofaciodigital syndrome ix 10.9
23 restrictive dermopathy, lethal 10.9
24 mesomelia-synostoses syndrome 10.9
25 gracile bone dysplasia 10.9
26 chromosome 2p16.1-p15 deletion syndrome 10.9
27 cranioectodermal dysplasia 2 10.9
28 chromosome 3pter-p25 deletion syndrome 10.9
29 short stature with microcephaly and distinctive facies 10.9
30 orofaciodigital syndrome xiv 10.9
31 van maldergem syndrome 10.9
32 aniridia renal agenesis psychomotor retardation 10.9
33 seaver cassidy syndrome 10.9
34 epicanthus 10.4
35 ptosis 10.2
36 ectropion 10.1
37 distichiasis 9.9
38 hemifacial microsomia 9.9
39 split-hand/foot malformation 1 9.9
40 strabismus 9.9
41 vesicoureteral reflux 1 9.9
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
43 craniosynostosis 9.9
44 holoprosencephaly 9.9
45 lymphedema 9.9
46 amblyopia 9.9
47 hypospadias 9.9
48 hydronephrosis 9.9
49 dysostosis 9.9
50 waardenburg's syndrome 9.9

Graphical network of the top 20 diseases related to Telecanthus:



Diseases related to Telecanthus

Symptoms & Phenotypes for Telecanthus

Symptoms via clinical synopsis from OMIM:

57
Neuro:
mental retardation

Mouth:
bilateral cleft lip and cleft palate

Eyes:
increased medial canthi separation without abnormal separation of the orbits

Teeth:
dental agenesis


Clinical features from OMIM:

187350

Human phenotypes related to Telecanthus:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 telecanthus 32 HP:0000506
3 bilateral cleft lip and palate 32 HP:0002744
4 anodontia 32 HP:0000674

Drugs & Therapeutics for Telecanthus

Search Clinical Trials , NIH Clinical Center for Telecanthus

Genetic Tests for Telecanthus

Genetic tests related to Telecanthus:

# Genetic test Affiliating Genes
1 Telecanthus 29

Anatomical Context for Telecanthus

MalaCards organs/tissues related to Telecanthus:

41
Eye, Heart, Bone

Publications for Telecanthus

Articles related to Telecanthus:

(show all 43)
# Title Authors Year
1
Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome. ( 28511421 )
2017
2
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. ( 26882209 )
2016
3
Medial canthopexy of old unrepaired naso-orbito-ethmoidal (noe) traumatic telecanthus. ( 23731578 )
2014
4
Medial canthopexy using Y-V epicanthoplasty incision in the correction of telecanthus. ( 23407259 )
2014
5
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. ( 23818446 )
2013
6
Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome. ( 22686506 )
2012
7
Congenital ectropion uveae with iris coloboma and telecanthus. ( 21256075 )
2011
8
Medial canthal degloving injuries: the triad of telecanthus, ptosis, and lacrimal trauma. ( 21921742 )
2011
9
Identification of a novel mutation in FOXL2 gene that leads to blepharophimosis ptosis epicanthus inversus and telecanthus syndrome in a Tunisian consanguineous family. ( 19929410 )
2010
10
Telecanthus and hypertelorism in frontoethmoidal meningoencephaloceles and the surgical correction of these conditions: Part I. An orbital anthropomorphometric evaluation of the Khmer subpopulation of Cambodia. ( 18216679 )
2008
11
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. ( 18297069 )
2008
12
Telecanthus and hypertelorism in frontoethmoidal meningoencephaloceles and the surgical correction of these conditions: Part II. A novel surgical approach in the treatment of telecanthus. ( 18216680 )
2008
13
A case of epicanthus, telecanthus, high palate, transitional vertebra associated with vesicoureteral reflux. ( 17187628 )
2007
14
Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs. ( 11992488 )
2002
15
Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and "prehensile" halluces: a new syndrome? ( 9856555 )
1998
16
Effectiveness of primary correction of traumatic telecanthus. ( 8627099 )
1995
17
Blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality in sisters. ( 8538074 )
1995
18
Treatment of congenital forms of telecanthus with custom-designed titanium medial canthal tendon screws. ( 7947448 )
1994
19
Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant. ( 8074148 )
1994
20
Management of combined frontonaso-orbital/skull base fractures and telecanthus in 355 cases. ( 1637538 )
1992
21
Repair of telecanthus by anterior fixation of cantilevered miniplates. ( 1495794 )
1992
22
Correction of telecanthus in the blepharophimosis syndrome. ( 1639597 )
1992
23
Holoprosencephaly, telecanthus and ectrodactyly: a second case. ( 1342859 )
1992
24
Radial ray defects, triangular face, telecanthus, sparse hair, dwarfism, and mental retardation. ( 1785626 )
1991
25
Parental age in the blepharophimosis, ptosis, epicanthus inversus, telecanthus complex. ( 2389797 )
1990
26
Mandibulofacial dysostosis or bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia: a new syndrome? ( 2556918 )
1989
27
The telecanthus-hypospadias syndrome. ( 3050099 )
1988
28
Posttraumatic telecanthus. ( 3268495 )
1988
29
Brief clinical report: syndrome of telecanthus, hypertelorism, strabismus, and pes cavus in father and son. ( 3970067 )
1985
30
Observations on distichiasis, telecanthus, ectropion and blow-out orbital fracture. ( 6487188 )
1984
31
Additional lacrimal findings in the syndrome of blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus. ( 6864429 )
1983
32
The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia. ( 7091184 )
1982
33
A new method for telecanthus correction in Waardenburg syndrome. ( 6791571 )
1981
34
The pulley canthopexy for residual telecanthus after hypertelorism repair or facial trauma. ( 7004317 )
1980
35
The correction of telecanthus and epicanthal folds. ( 6994012 )
1980
36
Posttraumatic pseudohypertelorism. (Telecanthus). ( 760717 )
1979
37
Syndrome of ocular and facial anomalies, telecanthus, and deafness. ( 4626128 )
1972
38
Telecanthus--or dystopia? ( 5013256 )
1972
39
Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name. ( 5568616 )
1971
40
Expressivity of heritable telecanthus in five generations of a kindred. ( 5002294 )
1971
41
EPICANTHUS AND TELECANTHUS. ( 14199224 )
1964
42
EPICANTHUS AND TELECANTHUS. ( 14077771 )
1963
43
EPICANTHAL FOLDS AND THE PROBLEM OF TELECANTHUS. ( 14123160 )
1963

Variations for Telecanthus

ClinVar genetic disease variations for Telecanthus:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh37 Chromosome 1, 103377736: 103377753
2 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh38 Chromosome 1, 102912180: 102912197
3 COL5A2 NM_000393.4(COL5A2): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 189949930: 189949930
4 COL5A2 NM_000393.4(COL5A2): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 189085204: 189085204
5 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic GRCh37 Chromosome 10, 76784742: 76784745
6 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic GRCh38 Chromosome 10, 75024984: 75024987

Expression for Telecanthus

Search GEO for disease gene expression data for Telecanthus.

Pathways for Telecanthus

Pathways related to Telecanthus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 ADAMTS18 NOTCH3

GO Terms for Telecanthus

Biological processes related to Telecanthus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.26 CCNQ FOXL2 NOTCH3 SALL1
2 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 8.62 FOXL2 WDR35

Sources for Telecanthus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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