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 leopard syndrome and noonan syndrome 1. An important gene associated with Hypertelorism is FGFR2 (Fibroblast Growth Factor Receptor 2), 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, heart and bone, 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 313)
# Related Disease Score Top Affiliating Genes
1 leopard syndrome 32.4 RAF1 PTPN11 BRAF
2 noonan syndrome 1 31.9 RIT1 RAF1 PTPN11 BRAF
3 noonan syndrome with multiple lentigines 31.3 RAF1 PTPN11 BRAF
4 hypospadias 31.0 SPECC1L MID1 FGFR2
5 lentigines 30.0 RAF1 PTPN11 BRAF
6 strabismus 29.7 TWIST1 POGZ MED13L FGFR2
7 hypertelorism, microtia, facial clefting syndrome 12.4
8 hypertelorism, teebi type 12.4
9 hypertelorism, preauricular sinus, punctal pits, and deafness 12.2
10 intellectual deficit - short stature - hypertelorism 12.2
11 hypertelorism and tetralogy of fallot 12.0
12 intellectual developmental disorder with hypertelorism and distinctive facies 12.0
13 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes 12.0
14 intellectual disability-short stature-hypertelorism syndrome 12.0
15 corpus callosum agenesis-macrocephaly-hypertelorism syndrome 12.0
16 opitz gbbb syndrome, type i 11.9
17 acrofrontofacionasal dysostosis 2 11.8
18 baraitser-winter syndrome 11.8
19 donnai-barrow syndrome 11.8
20 opitz-gbbb syndrome 11.7
21 opitz gbbb syndrome, type ii 11.7
22 baraitser-winter syndrome 1 11.7
23 seaver cassidy syndrome 11.6
24 elsahy-waters syndrome 11.6
25 hamamy syndrome 11.6
26 saethre-chotzen syndrome 11.5
27 gastrocutaneous syndrome 11.5
28 craniofacial-deafness-hand syndrome 11.5
29 wolf-hirschhorn syndrome 11.4
30 frontonasal dysplasia 1 11.3
31 sotos syndrome 1 11.3
32 external auditory canal, bilateral atresia of, with congenital vertical talus 11.3
33 bagatelle cassidy syndrome 11.3
34 santos mateus leal syndrome 11.3
35 leopard syndrome 1 11.2
36 3mc syndrome 2 11.2
37 mandibulofacial dysostosis with macroblepharon and macrostomia 11.2
38 telecanthus 11.1
39 gillessen-kaesbach-nishimura syndrome 11.1
40 krauss herman holmes syndrome 11.1
41 opitz-kaveggia syndrome 11.0
42 greig cephalopolysyndactyly syndrome 11.0
43 craniofrontonasal syndrome 11.0
44 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 10.9
45 ritscher-schinzel syndrome 1 10.9
46 nasodigitoacoustic syndrome 10.9
47 neu-laxova syndrome 1 10.9
48 3mc syndrome 1 10.9
49 weaver syndrome 10.9
50 acromelic frontonasal dysostosis 10.9

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 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.98 BRAF
2 Decreased viability GR00221-A-1 9.98 RAF1 RET
3 Decreased viability GR00221-A-2 9.98 RAF1 RET
4 Decreased viability GR00221-A-4 9.98 BRAF RET
5 Decreased viability GR00231-A 9.98 RAF1 RET
6 Decreased viability GR00301-A 9.98 BRAF FGFR2 RAF1 RET
7 Decreased viability GR00342-S-1 9.98 FGFR2
8 Decreased viability GR00342-S-2 9.98 FGFR2
9 Decreased viability GR00342-S-3 9.98 FGFR2
10 Decreased viability GR00381-A-1 9.98 BRAF
11 Decreased viability GR00402-S-2 9.98 BRAF FGFR2 RAF1 RET
12 shRNA abundance <= 50% GR00343-S 9.32 FGFR2 MECP2 MED13L MID1 POGZ PTPN11

MGI Mouse Phenotypes related to Hypertelorism:

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.45 ANKRD11 BRAF COL1A1 EFNB1 FGFR2 GJA1
2 cellular MP:0005384 10.41 BRAF COL1A1 EFNB1 FGFR2 GJA1 MECP2
3 behavior/neurological MP:0005386 10.39 ANKRD11 BRAF COL1A1 FGFR2 GJA1 MECP2
4 craniofacial MP:0005382 10.37 ANKRD11 BRAF COL1A1 EFNB1 FGFR2 GJA1
5 growth/size/body region MP:0005378 10.37 ANKRD11 BRAF COL1A1 EFNB1 FGFR2 GJA1
6 mortality/aging MP:0010768 10.35 ANKRD11 BRAF COL1A1 EFNB1 FGFR2 GJA1
7 cardiovascular system MP:0005385 10.3 BRAF COL1A1 FGFR2 GJA1 MECP2 PTPN11
8 endocrine/exocrine gland MP:0005379 10.27 BRAF COL1A1 EFNB1 FGFR2 GJA1 MECP2
9 immune system MP:0005387 10.26 ANKRD11 BRAF COL1A1 EFNB1 FGFR2 GJA1
10 hearing/vestibular/ear MP:0005377 10.25 ANKRD11 BRAF COL1A1 EFNB1 FGFR2 GJA1
11 hematopoietic system MP:0005397 10.24 ANKRD11 BRAF COL1A1 EFNB1 FGFR2 GJA1
12 nervous system MP:0003631 10.22 BRAF COL1A1 EFNB1 FGFR2 GJA1 MECP2
13 digestive/alimentary MP:0005381 10.19 BRAF COL1A1 EFNB1 FGFR2 PTPN11 RET
14 integument MP:0010771 10.16 BRAF COL1A1 EFNB1 FGFR2 GJA1 MECP2
15 limbs/digits/tail MP:0005371 10.15 BRAF COL1A1 EFNB1 FGFR2 GJA1 PTPN11
16 muscle MP:0005369 10.11 BRAF COL1A1 FGFR2 GJA1 MID1 PTPN11
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 BRAF COL1A1 EFNB1 FGFR2 GJA1 MECP2
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 15)
# 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 94-09-7, 1994-09-7 2337
3 tannic acid Approved Phase 1, Phase 2
4 Phytosterol Phase 1, Phase 2,Not Applicable
5 Antimetabolites Phase 2,Not Applicable
6 Lipid Regulating Agents Phase 2,Not Applicable
7 Hypolipidemic Agents Phase 2,Not Applicable
8 Anticholesteremic Agents Phase 2,Not Applicable
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
10 Gastrointestinal Agents Phase 1, Phase 2
11 Cholic Acids Phase 1, Phase 2
12 Antioxidants Phase 2
13 Protective Agents Phase 2
14 Anesthetics Phase 2
15 Vedolizumab Approved 943609-66-3

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
2 Smith-Lemli-Opitz Syndrome and Cholic Acid Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
3 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
4 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
5 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
6 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
7 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
8 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420 Not Applicable
9 The Safety Assessment of Vedolizumab During Pregnancy in IBD Patient Recruiting NCT02617927
10 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
11 Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) Recruiting NCT01630460
12 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425
13 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
14 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
15 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
16 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721

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, Heart, Bone, Skin, Pituitary, Testis, Brain

Publications for Hypertelorism

Articles related to Hypertelorism:

(show top 50) (show all 224)
# Title Authors Year
1
Primary aesthetic correction of nasal anomaly with costal graft in treating orbital hypertelorism. ( 29174553 )
2018
2
Hypertelorism Secondary to Mucocele in the Paranasal Sinuses. ( 30015745 )
2018
3
Ocular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience. ( 28350678 )
2017
4
Cranium Bifidum Occultum Associated with Hypertelorism Treated with Posterior Vault Reconstruction and Orbital Box Osteotomies: Case Report and Technical Note. ( 28522383 )
2017
5
Surgical correction of grade III hypertelorism. ( 29354594 )
2017
6
Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation. ( 27505181 )
2017
7
Bilateral cleft lip and palate, hypertelorism with agenesis of corpus callosum. ( 27054869 )
2016
8
Effectiveness of a Novel Augmented Reality-Based Navigation System in Treatment of Orbital Hypertelorism. ( 26545227 )
2016
9
Re: Effectiveness of a Novel Augmented Reality-Based Navigation System in Treatment of Orbital Hypertelorism. ( 27220020 )
2016
10
INTERMITTENT EXOTROPIA COURSE IN FRONTONASAL DYSPLASIA AND SEVERE ORBITAL HYPERTELORISM: CASE REPORT. ( 29693854 )
2016
11
Tessier Clefts and Hypertelorism. ( 27712820 )
2016
12
Hypertelorism correction with facial bipartition and box osteotomy: does soft tissue translation correlate with bony movement? ( 25469891 )
2015
13
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. ( 26111080 )
2015
14
Treatment of orbital hypertelorism using inverted U-shaped osteotomy. ( 25699535 )
2015
15
Nasal chondroma presenting as hypertelorism. ( 25730333 )
2015
16
The value of three-dimensional printing modelling for surgical correction of orbital hypertelorism. ( 25249178 )
2015
17
A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a. ( 24887031 )
2014
18
Hypertelorism and micro-orbit simultaneous correction in a patient with paramedian bilateral facial clefts. ( 25203583 )
2014
19
Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation. ( 24668755 )
2014
20
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
21
Hypertelorism. ( 25593412 )
2014
22
Confirmation of the macroblepharon, ectropion, hypertelorism, and macrostomia syndrome. ( 23448909 )
2013
23
Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly: report of a second case and confirmation of the phenotype. ( 22610273 )
2012
24
Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report. ( 22496945 )
2012
25
Hypertelorism correction: what happens with growth? Evaluation of a series of 95 surgical cases. ( 22090248 )
2012
26
Discussion: Hypertelorism correction: what happens with growth? Evaluation of a series of 95 surgical cases. ( 22373977 )
2012
27
A case of orbital hypertelorism with recovery of binocular vision after surgical treatment. ( 22381454 )
2012
28
Ocular findings in children with orbital hypertelorism. ( 23018735 )
2012
29
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome. ( 21326312 )
2011
30
Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice. ( 21542058 )
2011
31
HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31. ( 21480481 )
2011
32
3D visualization and simulation in surgical planning system of orbital hypertelorism. ( 20703527 )
2011
33
Refinement of the correction of orbital hypertelorism. ( 21233750 )
2011
34
Ocular hypertelorism in an orthodontic patient. ( 21457866 )
2011
35
Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism. ( 20453311 )
2010
36
Malformations of cortical development in patients with midline facial defects and ocular hypertelorism. ( 20590457 )
2010
37
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
38
Ocular hypertelorism and exotropia as presenting signs in Diamond-Blackfan anemia. ( 19184317 )
2009
39
Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings. ( 19650062 )
2009
40
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities. ( 19938075 )
2009
41
Oriental surgical protocol in orbital hypertelorism. ( 19387359 )
2009
42
Surgical correction of orbital hypertelorism: a surgical evolution through time. ( 19461324 )
2009
43
Stereolithography: a method for planning the surgical correction of the hypertelorism. ( 19816281 )
2009
44
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
45
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
46
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? ( 17236195 )
2007
47
Single stage craniofacial reconstruction for fronto-nasal encephalocele and hypertelorism in an adult. ( 17657369 )
2007
48
What is the incidence of hypertelorism in Filipino frontonasal encephalocele patients? ( 17414274 )
2007
49
Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: new syndrome? ( 17230486 )
2007
50
Mucocele of the paranasal sinuses as a cause of acquired orbital hypertelorism: the second case. ( 17512343 )
2007

Variations for Hypertelorism

ClinVar genetic disease variations for Hypertelorism:

6 (show all 44)
# 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 PIGL NM_004278.3(PIGL): c.500T> C (p.Leu167Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145303331 GRCh37 Chromosome 17, 16220000: 16220000
10 PIGL NM_004278.3(PIGL): c.500T> C (p.Leu167Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145303331 GRCh38 Chromosome 17, 16316686: 16316686
11 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 GRCh37 Chromosome 5, 176710828: 176710828
12 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 GRCh38 Chromosome 5, 177283827: 177283827
13 ELN NM_000501.3(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh37 Chromosome 7, 73469100: 73469100
14 ELN NM_000501.3(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh38 Chromosome 7, 74054770: 74054770
15 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 12, 114971734: 114971744
16 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 19, 35769937: 35769968
17 RIT1 NM_006912.5(RIT1): c.67A> C (p.Lys23Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs869312687 GRCh37 Chromosome 1, 155880486: 155880486
18 RIT1 NM_006912.5(RIT1): c.67A> C (p.Lys23Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs869312687 GRCh38 Chromosome 1, 155910695: 155910695
19 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh37 Chromosome 16, 89347633: 89347633
20 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh38 Chromosome 16, 89281225: 89281225
21 MLLT1 NM_005934.3(MLLT1): c.1418G> A (p.Arg473Gln) single nucleotide variant Likely pathogenic rs749203329 GRCh37 Chromosome 19, 6213798: 6213798
22 MLLT1 NM_005934.3(MLLT1): c.1418G> A (p.Arg473Gln) single nucleotide variant Likely pathogenic rs749203329 GRCh38 Chromosome 19, 6213787: 6213787
23 TFAP2B NM_003221.3(TFAP2B): c.830C> G (p.Ser277Trp) single nucleotide variant Uncertain significance rs1057518947 GRCh37 Chromosome 6, 50805696: 50805696
24 TFAP2B NM_003221.3(TFAP2B): c.830C> G (p.Ser277Trp) single nucleotide variant Uncertain significance rs1057518947 GRCh38 Chromosome 6, 50837983: 50837983
25 PIGL NM_004278.3(PIGL): c.176C> A (p.Pro59His) single nucleotide variant Uncertain significance rs1057518948 GRCh38 Chromosome 17, 16217402: 16217402
26 PIGL NM_004278.3(PIGL): c.176C> A (p.Pro59His) single nucleotide variant Uncertain significance rs1057518948 GRCh37 Chromosome 17, 16120716: 16120716
27 RPS6KA3 NM_004586.2(RPS6KA3): c.533C> G (p.Ala178Gly) single nucleotide variant Likely pathogenic rs1057518914 GRCh37 Chromosome X, 20211665: 20211665
28 RPS6KA3 NM_004586.2(RPS6KA3): c.533C> G (p.Ala178Gly) single nucleotide variant Likely pathogenic rs1057518914 GRCh38 Chromosome X, 20193547: 20193547
29 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh37 Chromosome 1, 103377736: 103377753
30 COL11A1 NM_080629.2(COL11A1): c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) deletion Likely pathogenic GRCh38 Chromosome 1, 102912180: 102912197
31 POGZ NM_015100.3(POGZ): c.2771delC (p.Pro924Argfs) deletion Pathogenic GRCh37 Chromosome 1, 151378740: 151378740
32 POGZ NM_015100.3(POGZ): c.2771delC (p.Pro924Argfs) deletion Pathogenic GRCh38 Chromosome 1, 151406264: 151406264
33 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh37 Chromosome 6, 10398926: 10398927
34 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh38 Chromosome 6, 10398693: 10398694
35 COL5A1 NM_000093.4(COL5A1): c.3760C> T (p.Pro1254Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 137704466: 137704466
36 COL5A1 NM_000093.4(COL5A1): c.3760C> T (p.Pro1254Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 134812620: 134812620
37 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 75030037: 75030037
38 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 76789795: 76789795
39 SLC12A6 NM_005135.2(SLC12A6): c.599dup (p.Ser201Leufs) duplication Likely pathogenic GRCh38 Chromosome 15, 34255386: 34255386
40 SLC12A6 NM_005135.2(SLC12A6): c.599dup (p.Ser201Leufs) duplication Likely pathogenic GRCh37 Chromosome 15, 34547587: 34547587
41 MID1 NM_000381.3(MID1): c.1765A> G (p.Asn589Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 10417647: 10417647
42 MID1 NM_000381.3(MID1): c.1765A> G (p.Asn589Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 10449607: 10449607
43 subset of 31 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18900000-20500000) copy number gain Uncertain significance GRCh37 Chromosome 22, 18900000: 20500000
44 EFNB1 GRCh37/hg19 Xq13.1(chrX: 68058460-68059931) copy number loss Pathogenic GRCh37 Chromosome X, 68058460: 68059931

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 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.86 BRAF FGFR2 PTPN11 RET
2 positive regulation of gene expression GO:0010628 9.85 BRAF GJA1 RET TFAP2A TWIST1
3 MAPK cascade GO:0000165 9.81 BRAF FGFR2 RAF1 RET
4 platelet activation GO:0030168 9.79 COL1A1 PTPN11 RAF1
5 osteoblast differentiation GO:0001649 9.79 COL1A1 GJA1 TWIST1
6 wound healing GO:0042060 9.77 COL1A1 FGFR2 RAF1
7 multicellular organism growth GO:0035264 9.75 ANKRD11 FGFR2 PTPN11
8 in utero embryonic development GO:0001701 9.73 ANKRD11 FGFR2 GJA1 TWIST1
9 cellular response to mechanical stimulus GO:0071260 9.71 COL1A1 GJA1 PTPN11
10 cellular response to retinoic acid GO:0071300 9.65 COL1A1 FGFR2 RET
11 negative regulation of apoptotic process GO:0043066 9.63 BRAF FGFR2 RAF1 RET TFAP2A TWIST1
12 face development GO:0060324 9.62 BRAF RAF1
13 peptidyl-tyrosine phosphorylation GO:0018108 9.62 BRAF EFNB1 FGFR2 RET
14 response to hyperoxia GO:0055093 9.59 COL1A1 MT-ATP6
15 eyelid development in camera-type eye GO:0061029 9.58 TFAP2A TWIST1
16 response to peptide hormone GO:0043434 9.58 BRAF COL1A1 GJA1
17 organ growth GO:0035265 9.57 FGFR2 PTPN11
18 neuron maturation GO:0042551 9.55 MECP2 RET
19 bone development GO:0060348 9.54 ANKRD11 FGFR2 TWIST1
20 negative regulation of histone acetylation GO:0035067 9.52 MECP2 TWIST1
21 head morphogenesis GO:0060323 9.49 ANKRD11 BRAF
22 skeletal system morphogenesis GO:0048705 9.43 ANKRD11 COL1A1 FGFR2
23 embryonic cranial skeleton morphogenesis GO:0048701 9.13 FGFR2 TFAP2A TWIST1
24 face morphogenesis GO:0060325 8.8 ANKRD11 COL1A1 PTPN11
25 cell differentiation GO:0030154 10.08 BRAF EFNB1 FGFR2 RAF1 RET TWIST1

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 9.26 GJA1 MECP2 PTPN11 TWIST1
2 mitogen-activated protein kinase kinase binding GO:0031434 9.16 BRAF RAF1
3 protein tyrosine kinase activity GO:0004713 8.92 BRAF EFNB1 FGFR2 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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