Aliases & Classifications for Telecanthus

MalaCards integrated aliases for Telecanthus:

Name: Telecanthus 56 29 6

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
telecanthus:
Inheritance autosomal dominant inheritance


Summaries for Telecanthus

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

Wikipedia : 74 Telecanthus, or dystopia canthorum, refers to increased distance between the inner corners of the... more...

More information 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 98)
# Related Disease Score Top Affiliating Genes
1 hypertelorism 31.7 OGS2 COL11A1
2 blepharophimosis 31.3 KAT6B FOXL2
3 epicanthus 30.2 KAT6B FOXL2
4 ptosis 29.5 NOTCH3 KAT6B FOXL2
5 renal hypoplasia 29.4 SALL1 KAT6B
6 toe syndactyly, telecanthus, and anogenital and renal malformations 12.7
7 microcornea, myopic chorioretinal atrophy, and telecanthus 12.7
8 syndromic telecanthus 12.2
9 opitz gbbb syndrome, type ii 12.1
10 blepharophimosis, ptosis, and epicanthus inversus 11.7
11 opitz-gbbb syndrome 11.7
12 donnai-barrow syndrome 11.6
13 frontonasal dysplasia with alar clefts 11.4
14 waardenburg's syndrome 11.4
15 nasopalpebral lipoma-coloboma syndrome 11.4
16 mesomelia-synostoses syndrome 11.4
17 opitz gbbb syndrome, type i 11.3
18 krauss herman holmes syndrome 11.3
19 lateral meningocele syndrome 11.2
20 orofaciodigital syndrome ix 11.2
21 short stature with microcephaly and distinctive facies 11.2
22 simosa craniofacial syndrome 11.2
23 fetal akinesia syndrome, x-linked 11.2
24 blepharonasofacial malformation syndrome 11.0
25 branchiooculofacial syndrome 11.0
26 waardenburg syndrome, type 3 11.0
27 orofaciodigital syndrome x 11.0
28 scalp-ear-nipple syndrome 11.0
29 waardenburg syndrome, type 1 11.0
30 waardenburg syndrome, type 2a 11.0
31 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.0
32 barber-say syndrome 11.0
33 camptodactyly syndrome, guadalajara, type i 11.0
34 cranioectodermal dysplasia 1 11.0
35 frontofacionasal dysplasia 11.0
36 kaufman oculocerebrofacial syndrome 11.0
37 restrictive dermopathy, lethal 11.0
38 orofaciodigital syndrome viii 11.0
39 waardenburg syndrome, type 2b 11.0
40 gracile bone dysplasia 11.0
41 waardenburg syndrome, type 2e 11.0
42 chromosome 2p16.1-p15 deletion syndrome 11.0
43 cranioectodermal dysplasia 2 11.0
44 chromosome 3pter-p25 deletion syndrome 11.0
45 orofaciodigital syndrome xiv 11.0
46 3mc syndrome 11.0
47 van maldergem syndrome 11.0
48 seaver cassidy syndrome 11.0
49 branchiootic syndrome 1 10.2
50 ectropion 10.2

Graphical network of the top 20 diseases related to Telecanthus:



Diseases related to Telecanthus

Symptoms & Phenotypes for Telecanthus

Human phenotypes related to Telecanthus:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 telecanthus 31 HP:0000506
3 bilateral cleft lip and palate 31 HP:0002744
4 anodontia 31 HP:0000674

Symptoms via clinical synopsis from OMIM:

56
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:

26 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10 COL11A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10 COL11A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10 COL11A1 COL5A2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 10 COL5A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10 COL11A1 COL5A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10 COL11A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10 COL11A1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 10 COL11A1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10 ADAMTS18
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10 COL11A1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 10 ADAMTS18 COL11A1 COL5A2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10 COL11A1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10 ADAMTS18
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10 ADAMTS18
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10 ADAMTS18
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10 COL11A1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10 ADAMTS18
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10 COL11A1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 COL5A2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.72 COL11A1 COL5A2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.72 COL11A1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.72 COL11A1 COL5A2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.72 ADAMTS18
24 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.72 COL11A1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.72 ADAMTS18
26 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.72 COL11A1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.72 ADAMTS18
28 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.72 ADAMTS18 COL11A1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.72 ADAMTS18 COL11A1 COL5A2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.72 ADAMTS18
31 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.72 ADAMTS18 COL11A1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.72 COL5A2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 COL11A1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.72 COL11A1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.72 COL11A1 COL5A2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.72 COL11A1

MGI Mouse Phenotypes related to Telecanthus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 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 29

Anatomical Context for Telecanthus

MalaCards organs/tissues related to Telecanthus:

40
Eye, Bone, Heart, Skin, Brain, Kidney

Publications for Telecanthus

Articles related to Telecanthus:

(show top 50) (show all 367)
# Title Authors PMID Year
1
Expressivity of heritable telecanthus in five generations of a kindred. 61 56
5002294 1971
2
Objective measurement of interpupillary distance. 56
5365062 1969
3
Improvement of Periorbital Appearance in Apert Syndrome After Subcranial Le Fort III With Bipartition and Distraction. 61
32011541 2020
4
Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance. 61
31945512 2020
5
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3. 61
32006683 2020
6
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth. 61
31980904 2020
7
Traumatic Telecanthus and Posterior Lacrimal Crest Avulsion in a Six-Year-Old Child. 61
31490433 2019
8
Oblique transnasal wiring canthopexy via Y-V epicanthoplasty for telecanthus correction in a patient with Waardenburg syndrome. 61
31658799 2019
9
A Novel Medial Canthal Reconstruction Technique in Children With Blepharophimosis Syndrome. 61
31033640 2019
10
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. 61
31422817 2019
11
Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report. 61
31363371 2019
12
Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder. 61
30213762 2019
13
Orbital Trauma. 61
31037047 2019
14
Complications and Treatment of Delayed or Inadequately Treated Nasoorbitoethmoid Fractures. 61
31037052 2019
15
Correction of Congenital Telecanthus by Extended Medial Epicanthoplasty With Skin Redraping Method. 61
30870171 2019
16
Management of median and paramedian craniofacial clefts. 61
30691993 2019
17
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 61
30827496 2019
18
Pediatric Nasoorbitoethmoid Fractures: Cause, Classification, and Management. 61
30589796 2019
19
Nablus syndrome: Easy to diagnose yet difficult to solve. 61
30580486 2018
20
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report. 61
30314436 2018
21
Diagnostic algorithm of Down syndrome by minor physical anomaly. 61
30581204 2018
22
Amniotic Band Syndrome: A Review of 2 Cases. 61
29634607 2018
23
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. 61
29861108 2018
24
Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations. 61
29134781 2018
25
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. 61
29021403 2018
26
STAR syndrome plus: The first description of a female patient with the lethal form. 61
29088509 2017
27
Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome. 61
28849110 2017
28
Exposure to Sodium Valproate during Pregnancy: Facial Features and Signs of Autism. 61
28635121 2017
29
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion. 61
27880066 2017
30
The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon. 61
28302550 2017
31
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 61
28332779 2017
32
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype. 61
28322501 2017
33
Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11. 61
28328127 2017
34
1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome. 61
28211977 2017
35
Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome. 61
28511421 2017
36
Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia. 61
27324866 2017
37
Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. 61
28924383 2017
38
Single-Stage Combined Craniofacial Repair for Frontoethmoidal Meningoencephalocele. 61
27831977 2017
39
Neurofibromatosis Type 1 Presenting with Ophthalmic Features: A Case Series. 61
28050470 2016
40
[Anesthetic Management of an Infant with a Chromosome 14q Terminal Deletion Syndrome]. 61
30358289 2016
41
Educational report: A case of lacrimal sac rhinosporidiosis. 61
27541939 2016
42
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. 61
26882209 2016
43
Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands. 61
27354242 2016
44
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome. 61
27139419 2016
45
Ocular Findings in Children With 22q11.2 Deletion Syndrome. 61
27182748 2016
46
Development of Strabismus in Children Initially Diagnosed with Pseudostrabismus. 61
27220260 2016
47
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge. 61
27488160 2016
48
STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis. 61
27104747 2016
49
Understanding paediatric allergic fungal sinusitis: Is it more aggressive? 61
26363894 2015
50
Achondroplasia and Macular Coloboma. 61
26692730 2015

Variations for Telecanthus

ClinVar genetic disease variations for 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 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 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 8.96 WDR35 FOXL2
2 collagen fibril organization GO:0030199 8.62 COL5A2 COL11A1

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 COL5A2 COL11A1

Sources for 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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