Aliases & Classifications for Hypertelorism

MalaCards integrated aliases for Hypertelorism:

Name: Hypertelorism 57 29 6

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypertelorism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 145400
MedGen 42 C0020534
ICD10 33 Q75.2
SNOMED-CT via HPO 69 263681008 194021007 22006008

Summaries for Hypertelorism

OMIM : 57 Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995). (145400)

MalaCards based summary : Hypertelorism is related to opitz gbbb syndrome, type ii and leopard syndrome. An important gene associated with Hypertelorism is EFNB1 (Ephrin B1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Endometrial cancer. The drugs Simvastatin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are hypertelorism and Decreased viability

Wikipedia : 76 Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring... more...

Related Diseases for Hypertelorism

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

(show top 50) (show all 279)
# Related Disease Score Top Affiliating Genes
1 opitz gbbb syndrome, type ii 33.5 MID1 SPECC1L
2 leopard syndrome 32.8 BRAF PTPN11 RAF1
3 noonan syndrome 1 31.8 BRAF PTPN11 RAF1
4 noonan syndrome with multiple lentigines 31.7 BRAF PTPN11 RAF1
5 hypospadias 30.7 FGFR2 MID1 SPECC1L
6 hypertelorism, microtia, facial clefting syndrome 12.3
7 hypertelorism, teebi type 12.2
8 hypertelorism, preauricular sinus, punctal pits, and deafness 12.1
9 hypertelorism and tetralogy of fallot 11.9
10 intellectual deficit - short stature - hypertelorism 11.9
11 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes 11.8
12 intellectual disability-short stature-hypertelorism syndrome 11.8
13 corpus callosum agenesis-macrocephaly-hypertelorism syndrome 11.8
14 opitz gbbb syndrome, type i 11.7
15 baraitser-winter syndrome 11.6
16 donnai-barrow syndrome 11.6
17 opitz-gbbb syndrome 11.6
18 baraitser-winter syndrome 1 11.5
19 acrofrontofacionasal dysostosis 2 11.4
20 hamamy syndrome 11.4
21 saethre-chotzen syndrome 11.4
22 craniofacial-deafness-hand syndrome 11.3
23 elsahy-waters syndrome 11.3
24 wolf-hirschhorn syndrome 11.3
25 seaver cassidy syndrome 11.3
26 frontonasal dysplasia 1 11.2
27 sotos syndrome 1 11.1
28 santos mateus leal syndrome 11.1
29 3mc syndrome 2 11.0
30 mandibulofacial dysostosis with macroblepharon and macrostomia 11.0
31 hemifacial hyperplasia 11.0 EFNB1 FGFR2
32 telecanthus 10.9
33 gastrocutaneous syndrome 10.9
34 gillessen-kaesbach-nishimura syndrome 10.9
35 krauss herman holmes syndrome 10.9
36 opitz-kaveggia syndrome 10.9
37 plagiocephaly 10.9 FGFR2 TWIST1
38 greig cephalopolysyndactyly syndrome 10.8
39 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 10.8
40 ritscher-schinzel syndrome 1 10.8
41 neu-laxova syndrome 1 10.8
42 weaver syndrome 10.8
43 craniofrontonasal syndrome 10.8
44 acromelic frontonasal dysostosis 10.8
45 noonan syndrome-like disorder with loose anagen hair 1 10.8
46 loeys-dietz syndrome 1 10.8
47 acrofrontofacionasal dysostosis 10.8
48 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 10.8
49 external auditory canal, bilateral atresia of, with congenital vertical talus 10.8
50 hartsfield syndrome 10.8

Graphical network of the top 20 diseases related to Hypertelorism:



Diseases related to Hypertelorism

Symptoms & Phenotypes for Hypertelorism

Symptoms via clinical synopsis from OMIM:

57
Eyes:
hypertelorism


Clinical features from OMIM:

145400

Human phenotypes related to Hypertelorism:

32
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.64 BRAF
2 Decreased viability GR00221-A-1 9.64 RET RAF1
3 Decreased viability GR00221-A-2 9.64 RET RAF1
4 Decreased viability GR00221-A-4 9.64 RET BRAF
5 Decreased viability GR00231-A 9.64 RET RAF1
6 Decreased viability GR00301-A 9.64 RET BRAF FGFR2 RAF1
7 Decreased viability GR00342-S-1 9.64 FGFR2
8 Decreased viability GR00342-S-2 9.64 FGFR2
9 Decreased viability GR00342-S-3 9.64 FGFR2
10 Decreased viability GR00381-A-1 9.64 BRAF
11 Decreased viability GR00402-S-2 9.64 RET BRAF FGFR2 RAF1

MGI Mouse Phenotypes related to Hypertelorism:

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.42 ANKRD11 BRAF COL1A1 EFNB1 FGFR2 GJA1
2 behavior/neurological MP:0005386 10.39 ANKRD11 BRAF COL1A1 FGFR2 GJA1 MECP2
3 growth/size/body region MP:0005378 10.37 RET TFAP2A TWIST1 ANKRD11 BRAF COL1A1
4 mortality/aging MP:0010768 10.35 ANKRD11 BRAF COL1A1 EFNB1 FGFR2 GJA1
5 cellular MP:0005384 10.34 TWIST1 BRAF COL1A1 EFNB1 FGFR2 GJA1
6 craniofacial MP:0005382 10.33 ANKRD11 BRAF COL1A1 EFNB1 FGFR2 GJA1
7 cardiovascular system MP:0005385 10.3 GJA1 MECP2 PTPN11 RAF1 RET TFAP2A
8 endocrine/exocrine gland MP:0005379 10.27 EFNB1 FGFR2 GJA1 MECP2 PTPN11 RAF1
9 immune system MP:0005387 10.26 ANKRD11 BRAF COL1A1 EFNB1 FGFR2 GJA1
10 hearing/vestibular/ear MP:0005377 10.25 BRAF COL1A1 EFNB1 FGFR2 GJA1 MECP2
11 hematopoietic system MP:0005397 10.24 PTPN11 RAF1 RET TFAP2A ANKRD11 BRAF
12 digestive/alimentary MP:0005381 10.19 BRAF COL1A1 EFNB1 FGFR2 PTPN11 RET
13 nervous system MP:0003631 10.18 BRAF COL1A1 EFNB1 FGFR2 GJA1 MECP2
14 integument MP:0010771 10.16 BRAF COL1A1 EFNB1 FGFR2 GJA1 MECP2
15 muscle MP:0005369 10.11 COL1A1 FGFR2 GJA1 MID1 PTPN11 RAF1
16 limbs/digits/tail MP:0005371 10.1 COL1A1 EFNB1 FGFR2 GJA1 PTPN11 RET
17 no phenotypic analysis MP:0003012 10.02 COL1A1 EFNB1 FGFR2 GJA1 MECP2 NSD1
18 normal MP:0002873 10.02 BRAF COL1A1 FGFR2 GJA1 MECP2 MID1
19 neoplasm MP:0002006 9.91 BRAF COL1A1 FGFR2 PTPN11 RAF1 RET
20 respiratory system MP:0005388 9.85 RET TFAP2A BRAF COL1A1 EFNB1 FGFR2
21 skeleton MP:0005390 9.7 ANKRD11 BRAF COL1A1 EFNB1 FGFR2 GJA1
22 pigmentation MP:0001186 9.65 BRAF COL1A1 FGFR2 PTPN11 TFAP2A
23 vision/eye MP:0005391 9.32 ANKRD11 BRAF COL1A1 EFNB1 FGFR2 GJA1

Drugs & Therapeutics for Hypertelorism

Drugs for Hypertelorism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
2
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
3 tannic acid Approved, Nutraceutical Phase 1, Phase 2
4 Anticholesteremic Agents Phase 2,Not Applicable
5 Antimetabolites Phase 2,Not Applicable
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
7 Hypolipidemic Agents Phase 2,Not Applicable
8 Lipid Regulating Agents Phase 2,Not Applicable
9 Anesthetics Phase 2
10 Antioxidants Phase 2
11 Protective Agents Phase 2
12 Phytosterol Nutraceutical Phase 1, Phase 2,Not Applicable
13 Vedolizumab Approved 943609-66-3
14 Gastrointestinal Agents

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
2 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
3 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
5 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
6 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
7 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420 Not Applicable
8 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
9 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
10 The Safety Assessment of Vedolizumab During Pregnancy in IBD Patient Recruiting NCT02617927
11 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
12 Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) Recruiting NCT01630460
13 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
14 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
15 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425

Search NIH Clinical Center for Hypertelorism

Genetic Tests for Hypertelorism

Genetic tests related to Hypertelorism:

# Genetic test Affiliating Genes
1 Hypertelorism 29

Anatomical Context for Hypertelorism

MalaCards organs/tissues related to Hypertelorism:

41
Eye, Skin

Publications for Hypertelorism

Articles related to Hypertelorism:

(show top 50) (show all 71)
# Title Authors Year
1
Primary aesthetic correction of nasal anomaly with costal graft in treating orbital hypertelorism. ( 29174553 )
2018
2
Ocular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience. ( 28350678 )
2017
3
Cranium Bifidum Occultum Associated with Hypertelorism Treated with Posterior Vault Reconstruction and Orbital Box Osteotomies: Case Report and Technical Note. ( 28522383 )
2017
4
Surgical correction of grade III hypertelorism. ( 29354594 )
2017
5
Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation. ( 27505181 )
2017
6
Bilateral cleft lip and palate, hypertelorism with agenesis of corpus callosum. ( 27054869 )
2016
7
Effectiveness of a Novel Augmented Reality-Based Navigation System in Treatment of Orbital Hypertelorism. ( 26545227 )
2016
8
Re: Effectiveness of a Novel Augmented Reality-Based Navigation System in Treatment of Orbital Hypertelorism. ( 27220020 )
2016
9
INTERMITTENT EXOTROPIA COURSE IN FRONTONASAL DYSPLASIA AND SEVERE ORBITAL HYPERTELORISM: CASE REPORT. ( 29693854 )
2016
10
Tessier Clefts and Hypertelorism. ( 27712820 )
2016
11
Hypertelorism correction with facial bipartition and box osteotomy: does soft tissue translation correlate with bony movement? ( 25469891 )
2015
12
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. ( 26111080 )
2015
13
Treatment of orbital hypertelorism using inverted U-shaped osteotomy. ( 25699535 )
2015
14
Nasal chondroma presenting as hypertelorism. ( 25730333 )
2015
15
The value of three-dimensional printing modelling for surgical correction of orbital hypertelorism. ( 25249178 )
2015
16
A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a. ( 24887031 )
2014
17
Hypertelorism and micro-orbit simultaneous correction in a patient with paramedian bilateral facial clefts. ( 25203583 )
2014
18
Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation. ( 24668755 )
2014
19
Loss of Function HDAC8 Mutations Cause a Phenotypic Spectrum of Cornelia de Lange Syndrome-like Features, Ocular Hypertelorism, Large Fontanelle and X-linked Inheritance. ( 24403048 )
2014
20
Hypertelorism. ( 25593412 )
2014
21
Confirmation of the macroblepharon, ectropion, hypertelorism, and macrostomia syndrome. ( 23448909 )
2013
22
Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly: report of a second case and confirmation of the phenotype. ( 22610273 )
2012
23
Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report. ( 22496945 )
2012
24
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome. ( 21326312 )
2011
25
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice. ( 21542058 )
2011
26
HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31. ( 21480481 )
2011
27
Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment. ( 19610086 )
2009
28
Ocular hypertelorism and exotropia as presenting signs in Diamond-Blackfan anemia. ( 19184317 )
2009
29
Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings. ( 19650062 )
2009
30
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. ( 19938075 )
2009
31
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
32
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
33
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? ( 17236195 )
2007
34
Single stage craniofacial reconstruction for fronto-nasal encephalocele and hypertelorism in an adult. ( 17657369 )
2007
35
What is the incidence of hypertelorism in Filipino frontonasal encephalocele patients? ( 17414274 )
2007
36
Central nervous system abnormalities on midline facial defects with hypertelorism detected by magnetic resonance image and computed tomography. ( 17220995 )
2006
37
A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly. ( 14699621 )
2004
38
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases. ( 11152141 )
2001
39
Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome? ( 11152154 )
2001
40
Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35). ( 10706364 )
2000
41
High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance. ( 10794262 )
2000
42
[Syndromes 7. Hypertelorism (Greig syndrome)]. ( 11930838 )
1999
43
XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. ( 10398236 )
1999
44
Association of holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism: a possible third case. ( 9689997 )
1998
45
Two brothers with hypospadias, hypertelorism, upper lid coloboma and mixed type hearing loss: a new syndrome. ( 9843000 )
1998
46
Microcephaly with agenesis of corticospinal tracts and arthrogryposis, hypospadias, single umbilical artery, hypertelorism, and renal and adrenal hypoplasia--previously undescribed syndrome. ( 9286455 )
1997
47
Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder form of Barber-Say Syndrome. ( 9415700 )
1997
48
Hypertelorism and hypospadias associated with a de novo apparently balanced translocation between 8q22.3-23 and 20p13. ( 9028465 )
1997
49
Hypertelorism-microtia-clefting (HMC) syndrome. ( 7811429 )
1994
50
Orbital hypertelorism. ( 7813159 )
1994

Variations for Hypertelorism

ClinVar genetic disease variations for Hypertelorism:

6
(show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
2 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh38 Chromosome MT, 8993: 8993
3 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918494 GRCh37 Chromosome 10, 123276877: 123276877
4 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918494 GRCh38 Chromosome 10, 121517363: 121517363
5 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
6 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh38 Chromosome 10, 43121968: 43121968
7 COL1A1 NM_000088.3(COL1A1): c.1777G> A (p.Gly593Ser) single nucleotide variant Pathogenic rs66527965 GRCh37 Chromosome 17, 48270399: 48270399
8 COL1A1 NM_000088.3(COL1A1): c.1777G> A (p.Gly593Ser) single nucleotide variant Pathogenic rs66527965 GRCh38 Chromosome 17, 50193038: 50193038
9 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 GRCh37 Chromosome 5, 176710828: 176710828
10 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 GRCh38 Chromosome 5, 177283827: 177283827
11 ELN NM_000501.3(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh37 Chromosome 7, 73469100: 73469100
12 ELN NM_000501.3(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh38 Chromosome 7, 74054770: 74054770
13 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 12, 114971734: 114971744
14 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 19, 35769937: 35769968
15 RIT1 NM_006912.5(RIT1): c.67A> C (p.Lys23Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs869312687 GRCh37 Chromosome 1, 155880486: 155880486
16 RIT1 NM_006912.5(RIT1): c.67A> C (p.Lys23Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs869312687 GRCh38 Chromosome 1, 155910695: 155910695
17 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh37 Chromosome 16, 89347633: 89347633
18 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh38 Chromosome 16, 89281225: 89281225
19 MLLT1 NM_005934.3(MLLT1): c.1418G> A (p.Arg473Gln) single nucleotide variant Likely pathogenic rs749203329 GRCh37 Chromosome 19, 6213798: 6213798
20 MLLT1 NM_005934.3(MLLT1): c.1418G> A (p.Arg473Gln) single nucleotide variant Likely pathogenic rs749203329 GRCh38 Chromosome 19, 6213787: 6213787
21 46;XY;t(3;17)(p14.3;q24.3)dn Translocation Likely pathogenic
22 46;XY;t(1;5)(p35.3;q31.3)dn Translocation Pathogenic
23 46;XY;inv(6)(q22.2q27)dn inversion Pathogenic
24 46;XY;t(8;10)(q13;p13)dn Translocation Pathogenic
25 46;XY;t(14;15)(q32.1;q15)dn Translocation Uncertain significance
26 Translocation Uncertain significance
27 46;XY;t(16;20)(q23.1;p11.22) Translocation Uncertain significance
28 46;X;inv(X)(p22.31q13.1)dn inversion Uncertain significance
29 46;XX;t(5;17)(p15.31~32;q25.3)dn Translocation Uncertain significance
30 46;XY;inv(1)(p22.3p34.1)dn inversion Pathogenic
31 46;XX;t(7;14)(p15;q24)dn Translocation Uncertain significance
32 46;XY;t(1;10;4)(p32.2;q21.1;q23)dn Translocation Uncertain significance
33 TFAP2B NM_003221.3(TFAP2B): c.830C> G (p.Ser277Trp) single nucleotide variant Uncertain significance rs1057518947 GRCh37 Chromosome 6, 50805696: 50805696
34 TFAP2B NM_003221.3(TFAP2B): c.830C> G (p.Ser277Trp) single nucleotide variant Uncertain significance rs1057518947 GRCh38 Chromosome 6, 50837983: 50837983
35 PIGL NM_004278.3(PIGL): c.176C> A (p.Pro59His) single nucleotide variant Uncertain significance rs1057518948 GRCh38 Chromosome 17, 16217402: 16217402
36 PIGL NM_004278.3(PIGL): c.176C> A (p.Pro59His) single nucleotide variant Uncertain significance rs1057518948 GRCh37 Chromosome 17, 16120716: 16120716
37 RPS6KA3 NM_004586.2(RPS6KA3): c.533C> G (p.Ala178Gly) single nucleotide variant Likely pathogenic rs1057518914 GRCh37 Chromosome X, 20211665: 20211665
38 RPS6KA3 NM_004586.2(RPS6KA3): c.533C> G (p.Ala178Gly) single nucleotide variant Likely pathogenic rs1057518914 GRCh38 Chromosome X, 20193547: 20193547
39 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh37 Chromosome 1, 103377736: 103377753
40 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh38 Chromosome 1, 102912180: 102912197
41 POGZ NM_015100.3(POGZ): c.2771delC (p.Pro924Argfs) deletion Pathogenic GRCh37 Chromosome 1, 151378740: 151378740
42 POGZ NM_015100.3(POGZ): c.2771delC (p.Pro924Argfs) deletion Pathogenic GRCh38 Chromosome 1, 151406264: 151406264
43 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh37 Chromosome 6, 10398926: 10398927
44 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh38 Chromosome 6, 10398693: 10398694
45 COL5A1 NM_000093.4(COL5A1): c.3760C> T (p.Pro1254Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 134812620: 134812620
46 COL5A1 NM_000093.4(COL5A1): c.3760C> T (p.Pro1254Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 137704466: 137704466
47 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 75030037: 75030037
48 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 76789795: 76789795
49 SLC12A6 NM_005135.2(SLC12A6): c.599dup (p.Ser201Leufs) duplication Likely pathogenic GRCh38 Chromosome 15, 34255386: 34255386
50 SLC12A6 NM_005135.2(SLC12A6): c.599dup (p.Ser201Leufs) duplication Likely pathogenic GRCh37 Chromosome 15, 34547587: 34547587

Expression for Hypertelorism

Search GEO for disease gene expression data for Hypertelorism.

Pathways for Hypertelorism

GO Terms for Hypertelorism

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.89 BRAF FGFR2 RAF1 RET
2 positive regulation of gene expression GO:0010628 9.8 BRAF GJA1 RET TFAP2A TWIST1
3 negative regulation of apoptotic process GO:0043066 9.8 BRAF FGFR2 RAF1 RET TFAP2A TWIST1
4 osteoblast differentiation GO:0001649 9.79 COL1A1 GJA1 TWIST1
5 in utero embryonic development GO:0001701 9.78 ANKRD11 FGFR2 GJA1 TWIST1
6 wound healing GO:0042060 9.76 COL1A1 FGFR2 RAF1
7 multicellular organism growth GO:0035264 9.73 ANKRD11 FGFR2 PTPN11
8 cellular response to mechanical stimulus GO:0071260 9.72 COL1A1 GJA1 PTPN11
9 cellular response to retinoic acid GO:0071300 9.67 COL1A1 FGFR2 RET
10 response to peptide hormone GO:0043434 9.63 BRAF COL1A1 GJA1
11 face development GO:0060324 9.62 BRAF RAF1
12 neurotrophin TRK receptor signaling pathway GO:0048011 9.61 PTPN11 RAF1
13 bone development GO:0060348 9.61 ANKRD11 FGFR2 TWIST1
14 response to hyperoxia GO:0055093 9.6 COL1A1 MT-ATP6
15 eyelid development in camera-type eye GO:0061029 9.58 TFAP2A TWIST1
16 organ growth GO:0035265 9.57 FGFR2 PTPN11
17 neuron maturation GO:0042551 9.54 MECP2 RET
18 skeletal system morphogenesis GO:0048705 9.54 ANKRD11 COL1A1 FGFR2
19 negative regulation of histone acetylation GO:0035067 9.52 MECP2 TWIST1
20 head morphogenesis GO:0060323 9.51 ANKRD11 BRAF
21 negative regulation of signal transduction GO:0009968 9.46 BRAF FGFR2 RAF1 RET
22 embryonic cranial skeleton morphogenesis GO:0048701 9.43 FGFR2 TFAP2A TWIST1
23 face morphogenesis GO:0060325 9.13 ANKRD11 COL1A1 PTPN11
24 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.02 BRAF FGFR2 PTPN11 RAF1 RET

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

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.46 GJA1 MECP2 PTPN11 TWIST1
2 protein tyrosine kinase binding GO:1990782 9.26 GJA1 PTPN11
3 MAP kinase kinase kinase activity GO:0004709 9.26 BRAF FGFR2 RAF1 RET
4 mitogen-activated protein kinase kinase binding GO:0031434 8.92 BRAF FGFR2 RAF1 RET

Sources for Hypertelorism

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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