Aliases & Classifications for Telecanthus

MalaCards integrated aliases for Telecanthus:

Name: Telecanthus 58 30 6

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
telecanthus:
Inheritance autosomal dominant inheritance


Summaries for Telecanthus

MalaCards based summary : Telecanthus is related to donnai-barrow syndrome and blepharophimosis. An important gene associated with Telecanthus is ADAMTS18 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18). Affiliated tissues include eye and skin, and related phenotypes are intellectual disability and telecanthus

Wikipedia : 77 Telecanthus (from the Greek word "tele" (τῆλε) 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 66)
# Related Disease Score Top Affiliating Genes
1 donnai-barrow syndrome 31.7 ADAMTS18 COL11A1
2 blepharophimosis 31.2 FOXL2 KAT6B
3 toe syndactyly, telecanthus, and anogenital and renal malformations 12.6
4 microcornea, myopic chorioretinal atrophy, and telecanthus 12.6
5 opitz gbbb syndrome, type ii 11.8
6 opitz-gbbb syndrome 11.6
7 hypertelorism 11.3
8 nasopalpebral lipoma-coloboma syndrome 11.3
9 frontonasal dysplasia with alar clefts 11.3
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 ix 11.1
14 short stature with microcephaly and distinctive facies 11.1
15 simosa craniofacial syndrome 11.1
16 fetal akinesia syndrome, x-linked 11.1
17 blepharonasofacial malformation syndrome 11.0
18 lateral meningocele syndrome 11.0
19 orofaciodigital syndrome x 11.0
20 barber-say syndrome 11.0
21 camptodactyly syndrome, guadalajara, type i 11.0
22 frontofacionasal dysplasia 11.0
23 restrictive dermopathy, lethal 11.0
24 orofaciodigital syndrome viii 11.0
25 mesomelia-synostoses syndrome 11.0
26 gracile bone dysplasia 11.0
27 chromosome 2p16.1-p15 deletion syndrome 11.0
28 cranioectodermal dysplasia 2 11.0
29 chromosome 3pter-p25 deletion syndrome 11.0
30 orofaciodigital syndrome xiv 11.0
31 van maldergem syndrome 11.0
32 aniridia renal agenesis psychomotor retardation 11.0
33 seaver cassidy syndrome 11.0
34 epicanthus 10.4
35 ptosis 10.3
36 meningocele 10.2 ADAMTS18 NOTCH3
37 coloboma of macula 10.1
38 chromosome 2q35 duplication syndrome 10.1
39 ectropion 10.1
40 vitreoretinal dystrophy 10.1 ADAMTS18 COL11A1
41 kniest dysplasia 10.0 ADAMTS18 COL11A1
42 distichiasis 9.9
43 hemifacial microsomia 9.9
44 split-hand/foot malformation 1 9.9
45 strabismus 9.9
46 vesicoureteral reflux 1 9.9
47 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
48 craniosynostosis 9.9
49 holoprosencephaly 9.9
50 lymphedema 9.9

Graphical network of the top 20 diseases related to Telecanthus:



Diseases related to Telecanthus

Symptoms & Phenotypes for Telecanthus

Human phenotypes related to Telecanthus:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 telecanthus 33 HP:0000506
3 bilateral cleft lip and palate 33 HP:0002744
4 anodontia 33 HP:0000674

Symptoms via clinical synopsis from OMIM:

58
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

GenomeRNAi Phenotypes related to Telecanthus according to GeneCards Suite gene sharing:

27 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.96 COL11A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.96 COL5A2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.96 COL11A1 COL5A2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.96 COL11A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.96 COL11A1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.96 COL11A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.96 ADAMTS18
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.96 COL11A1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.96 ADAMTS18 COL11A1 COL5A2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.96 COL11A1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.96 ADAMTS18 COL11A1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.96 ADAMTS18
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.96 ADAMTS18
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.96 ADAMTS18
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.96 ADAMTS18
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.96 COL11A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.75 COL5A2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.75 COL11A1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.75 COL11A1 COL5A2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.75 COL11A1 COL5A2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.75 COL11A1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.75 COL11A1 COL5A2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.75 ADAMTS18
24 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.75 COL11A1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.75 ADAMTS18
26 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.75 COL11A1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.75 ADAMTS18
28 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.75 ADAMTS18 COL11A1 COL5A2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.75 ADAMTS18
30 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.75 ADAMTS18 COL11A1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.75 COL5A2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.75 COL11A1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.75 COL11A1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.75 COL11A1 COL5A2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.75 COL11A1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.75 COL11A1

MGI Mouse Phenotypes related to Telecanthus:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.56 CCNQ COL11A1 COL5A2 CRIPT FOXL2 NOTCH3
2 respiratory system MP:0005388 9.02 ADAMTS18 COL11A1 COL5A2 NOTCH3 WDR35

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 30

Anatomical Context for Telecanthus

MalaCards organs/tissues related to Telecanthus:

42
Eye, Skin

Publications for Telecanthus

Articles related to Telecanthus:

(show all 44)
# Title Authors Year
1
Correction of Congenital Telecanthus by Extended Medial Epicanthoplasty With Skin Redraping Method. ( 30870171 )
2019
2
Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome. ( 28511421 )
2017
3
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. ( 26882209 )
2016
4
Medial canthopexy using Y-V epicanthoplasty incision in the correction of telecanthus. ( 23407259 )
2014
5
Medial canthopexy of old unrepaired naso-orbito-ethmoidal (noe) traumatic telecanthus. ( 23731578 )
2014
6
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. ( 23818446 )
2013
7
Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome. ( 22686506 )
2012
8
Congenital ectropion uveae with iris coloboma and telecanthus. ( 21256075 )
2011
9
Medial canthal degloving injuries: the triad of telecanthus, ptosis, and lacrimal trauma. ( 21921742 )
2011
10
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
11
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
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
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. ( 18297069 )
2008
14
A case of epicanthus, telecanthus, high palate, transitional vertebra associated with vesicoureteral reflux. ( 17187628 )
2007
15
Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs. ( 11992488 )
2002
16
Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and "prehensile" halluces: a new syndrome? ( 9856555 )
1998
17
Blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality in sisters. ( 8538074 )
1995
18
Effectiveness of primary correction of traumatic telecanthus. ( 8627099 )
1995
19
Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant. ( 8074148 )
1994
20
Treatment of congenital forms of telecanthus with custom-designed titanium medial canthal tendon screws. ( 7947448 )
1994
21
Correction of telecanthus in the blepharophimosis syndrome. ( 1639597 )
1992
22
Holoprosencephaly, telecanthus and ectrodactyly: a second case. ( 1342859 )
1992
23
Repair of telecanthus by anterior fixation of cantilevered miniplates. ( 1495794 )
1992
24
Management of combined frontonaso-orbital/skull base fractures and telecanthus in 355 cases. ( 1637538 )
1992
25
Radial ray defects, triangular face, telecanthus, sparse hair, dwarfism, and mental retardation. ( 1785626 )
1991
26
Parental age in the blepharophimosis, ptosis, epicanthus inversus, telecanthus complex. ( 2389797 )
1990
27
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
28
The telecanthus-hypospadias syndrome. ( 3050099 )
1988
29
Posttraumatic telecanthus. ( 3268495 )
1988
30
Brief clinical report: syndrome of telecanthus, hypertelorism, strabismus, and pes cavus in father and son. ( 3970067 )
1985
31
Observations on distichiasis, telecanthus, ectropion and blow-out orbital fracture. ( 6487188 )
1984
32
Additional lacrimal findings in the syndrome of blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus. ( 6864429 )
1983
33
The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia. ( 7091184 )
1982
34
A new method for telecanthus correction in Waardenburg syndrome. ( 6791571 )
1981
35
The pulley canthopexy for residual telecanthus after hypertelorism repair or facial trauma. ( 7004317 )
1980
36
The correction of telecanthus and epicanthal folds. ( 6994012 )
1980
37
Posttraumatic pseudohypertelorism. (Telecanthus). ( 760717 )
1979
38
Syndrome of ocular and facial anomalies, telecanthus, and deafness. ( 4626128 )
1972
39
Telecanthus--or dystopia? ( 5013256 )
1972
40
Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name. ( 5568616 )
1971
41
Expressivity of heritable telecanthus in five generations of a kindred. ( 5002294 )
1971
42
EPICANTHUS AND TELECANTHUS. ( 14199224 )
1964
43
EPICANTHUS AND TELECANTHUS. ( 14077771 )
1963
44
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 46;XY;t(1;9;5)(compleX)dn Translocation Likely pathogenic
2 46;XX;t(6;15)(q23;q22)dn Translocation Likely pathogenic
3 46;XX;t(5;7)(q12.2;q21.2)mat Translocation Uncertain significance
4 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic rs1553200431 GRCh37 Chromosome 1, 103377736: 103377753
5 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic rs1553200431 GRCh38 Chromosome 1, 102912180: 102912197
6 COL5A2 NM_000393.4(COL5A2): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic rs1553517323 GRCh37 Chromosome 2, 189949930: 189949930
7 COL5A2 NM_000393.4(COL5A2): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic rs1553517323 GRCh38 Chromosome 2, 189085204: 189085204
8 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic rs1554844486 GRCh37 Chromosome 10, 76784742: 76784745
9 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic rs1554844486 GRCh38 Chromosome 10, 75024984: 75024987

Expression for Telecanthus

Search GEO for disease gene expression data for Telecanthus.

Pathways for Telecanthus

GO Terms for Telecanthus

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

# Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 9.16 COL11A1 COL5A2
2 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 8.96 FOXL2 WDR35
3 positive regulation of transcription by RNA polymerase II GO:0045944 8.92 FOXL2 KAT6B NOTCH3 SALL1

Molecular functions related to Telecanthus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL11A1 COL5A2

Sources for Telecanthus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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