Aliases & Classifications for Hypertelorism

MalaCards integrated aliases for Hypertelorism:

Name: Hypertelorism 56 29 6 32

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hypertelorism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 145400
ICD10 32 Q75.2
MedGen 41 C0020534
SNOMED-CT via HPO 68 194021007 22006008 263681008

Summaries for Hypertelorism

OMIM : 56 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 hypertelorism, microtia, facial clefting syndrome and opitz gbbb syndrome, type ii. An important gene associated with Hypertelorism is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Developmental Biology and Neural Crest Differentiation. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and bone, and related phenotypes are hypertelorism and mortality/aging

Wikipedia : 74 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 460)
# Related Disease Score Top Affiliating Genes
1 hypertelorism, microtia, facial clefting syndrome 34.5 TWIST1 FGFR2
2 opitz gbbb syndrome, type ii 34.0 SPECC1L MID1
3 saethre-chotzen syndrome 33.5 TWIST1 FGFR2 EFNB1
4 apert syndrome 32.5 TWIST1 FGFR2 EFNB1
5 crouzon syndrome 32.2 TWIST1 FGFR2 EFNB1
6 hypospadias 31.4 SPECC1L MID1 FGFR2
7 craniosynostosis 31.1 TWIST1 SPECC1L FGFR2 EFNB1
8 ptosis 30.8 TWIST1 SPECC1L PAX6 ANKRD11
9 synostosis 30.8 TWIST1 FGFR2 EFNB1
10 macrostomia, isolated 30.6 SPECC1L POGZ
11 farsightedness 30.5 NSD1 ANKRD11
12 coloboma of iris 30.2 TFAP2A PAX6
13 cleft palate, isolated 30.0 TWIST1 TFAP2A SPECC1L NSD1 MID1 FGFR2
14 strabismus 29.9 TWIST1 POGZ PAX6 MED13L FGFR2
15 vesicoureteral reflux 1 29.5 RET MED13L FGFR2
16 patent ductus arteriosus 1 29.5 TFAP2A NSD1 ELN
17 visual epilepsy 29.4 SCN1A POGZ NSD1 MECP2
18 scoliosis 29.4 NSD1 MED13L MECP2 ELN COL1A1
19 esotropia 29.3 TFAP2A PAX6 ANKRD11
20 alacrima, achalasia, and mental retardation syndrome 29.2 SCN1A MED13L MECP2 ANKRD11
21 hypertelorism, teebi type 12.6
22 intellectual developmental disorder with hypertelorism and distinctive facies 12.4
23 hypertelorism, preauricular sinus, punctal pits, and deafness 12.4
24 intellectual deficit - short stature - hypertelorism 12.4
25 hypertelorism and tetralogy of fallot 12.3
26 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes 12.3
27 donnai-barrow syndrome 12.1
28 intellectual disability-short stature-hypertelorism syndrome 12.1
29 corpus callosum agenesis-macrocephaly-hypertelorism syndrome 12.1
30 opitz-gbbb syndrome 12.1
31 opitz gbbb syndrome, type i 12.0
32 baraitser-winter syndrome 1 12.0
33 baraitser-winter syndrome 12.0
34 acrofrontofacionasal dysostosis 2 12.0
35 hamamy syndrome 12.0
36 elsahy-waters syndrome 11.9
37 gastrocutaneous syndrome 11.9
38 hartsfield syndrome 11.8
39 seaver cassidy syndrome 11.8
40 craniofacial-deafness-hand syndrome 11.7
41 leopard syndrome 11.7
42 mandibulofacial dysostosis with macroblepharon and macrostomia 11.6
43 wolf-hirschhorn syndrome 11.6
44 frontonasal dysplasia 1 11.5
45 craniofrontonasal syndrome 11.5
46 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 11.4
47 external auditory canal, bilateral atresia of, with congenital vertical talus 11.4
48 bagatelle cassidy syndrome 11.4
49 santos mateus leal syndrome 11.4
50 sotos syndrome 1 11.4

Graphical network of the top 20 diseases related to Hypertelorism:



Diseases related to Hypertelorism

Symptoms & Phenotypes for Hypertelorism

Human phenotypes related to Hypertelorism:

31
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316

Symptoms via clinical synopsis from OMIM:

56
Eyes:
hypertelorism

Clinical features from OMIM:

145400

MGI Mouse Phenotypes related to Hypertelorism:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.36 ANKRD11 CCNK COL1A1 EFNB1 FGFR2 MECP2
2 behavior/neurological MP:0005386 10.34 ANKRD11 COL1A1 FGFR2 MECP2 MID1 MYH10
3 embryo MP:0005380 10.34 ANKRD11 COL1A1 EFNB1 FGFR2 MECP2 MID1
4 growth/size/body region MP:0005378 10.32 ANKRD11 COL1A1 EFNB1 FGFR2 MECP2 MID1
5 cellular MP:0005384 10.28 COL1A1 EFNB1 FGFR2 MECP2 MYH10 PAX6
6 cardiovascular system MP:0005385 10.25 COL1A1 FGFR2 MECP2 MYH10 PAX6 PIK3CA
7 craniofacial MP:0005382 10.22 ANKRD11 COL1A1 EFNB1 FGFR2 MECP2 MYH10
8 nervous system MP:0003631 10.18 COL1A1 EFNB1 FGFR2 MECP2 MID1 MYH10
9 digestive/alimentary MP:0005381 10.05 COL1A1 EFNB1 FGFR2 PAX6 RET TFAP2A
10 muscle MP:0005369 10.01 COL1A1 FGFR2 MID1 MYH10 PAX6 PIK3CA
11 hearing/vestibular/ear MP:0005377 10 ANKRD11 COL1A1 EFNB1 FGFR2 MECP2 PAX6
12 normal MP:0002873 9.91 COL1A1 FGFR2 MECP2 MID1 MYH10 PAX6
13 no phenotypic analysis MP:0003012 9.87 COL1A1 EFNB1 FGFR2 MECP2 NSD1 PIK3CA
14 respiratory system MP:0005388 9.76 COL1A1 EFNB1 FGFR2 MECP2 PAX6 RET
15 skeleton MP:0005390 9.65 ANKRD11 COL1A1 EFNB1 FGFR2 MECP2 MYH10
16 vision/eye MP:0005391 9.28 ANKRD11 COL1A1 EFNB1 FGFR2 MECP2 MYH10

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
tannic acid Approved Phase 1, Phase 2 1401-55-4
2
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
3
Simvastatin Approved Phase 2 79902-63-9 54454
4 Anticholesteremic Agents Phase 2
5 Hypolipidemic Agents Phase 2
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
7 Lipid Regulating Agents Phase 2
8 Antimetabolites Phase 2
9 Protective Agents Phase 2
10 Anesthetics Phase 2
11 Antioxidants Phase 2
12 Cholic Acids Phase 1, Phase 2
13 Gastrointestinal Agents Phase 1, Phase 2
14 Phytosterol

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 The Effects of Dietary Cholesterol in the 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 Investigation of 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 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
7 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
8 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
9 Bohring-Opitz Syndrome and ASXL-Related Phenotypes Registry Recruiting NCT03303716
10 Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630460
11 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
12 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Terminated NCT01356420
13 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation 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:

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

Publications for Hypertelorism

Articles related to Hypertelorism:

(show top 50) (show all 2143)
# Title Authors PMID Year
1
Hypertelorism: interorbital growth, measurements, and pathogenetic considerations. 61 56
8636632 1995
2
Hypertelorism in Several Generations. 61 56
21031712 1927
3
[Physiological euryopia and pathological hypertelorismus ocularis]. 56
13206986 1954
4
A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum. 61
31953237 2020
5
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature. 61
32003537 2020
6
Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings. 61
31428919 2020
7
Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance. 61
31945512 2020
8
Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant. 61
32021610 2020
9
Treatment of the Patient With Crouzon Syndrome With Orthognathic Surgery. 61
31934979 2020
10
Postoperative Complications of Box-Shift Osteotomy for Orbital Hypertelorism. 61
31977694 2020
11
Frontonasal dysplasia: A case report. 61
31914496 2019
12
ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome. 61
31600785 2019
13
Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings. 61
31942422 2019
14
Apert syndrome: prenatal diagnosis challenge. 61
31822532 2019
15
Virtual 3D planning of osteotomies for craniosynostoses and complex craniofacial malformations. 61
31568779 2019
16
Lacrimal drainage anomalies in Tessier cleft 3 with unilateral anophthalmos. 61
31771345 2019
17
Case series: Amniotic band sequence with craniofacial abnormalities. 61
31407870 2019
18
Hypertelorism. 61
31679589 2019
19
Addressing hypertelorism: Indications and techniques. 61
31557491 2019
20
Surgical treatment of orbital hypertelorism: Historical evolution and development prospects. 61
31519384 2019
21
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome. 61
31573334 2019
22
Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome. 61
31403828 2019
23
The relationship between external bony defects and widened lateral interorbital distance in frontoethmoidal encephalomeningocele. 61
31409529 2019
24
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 61
31568861 2019
25
A New Technique Using Modified Dehaan's Method for Median Cleft Lip Closure: A Case Report. 61
31448395 2019
26
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature. 61
31336229 2019
27
Michelin Tire Baby Syndrome: A Rare Case with Review of Literature. 61
31696012 2019
28
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome. 61
31285555 2019
29
Controversy on the Age of Hypertelorism Correction. 61
31107381 2019
30
A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment 61
30468148 2019
31
Ocular manifestations in Gorlin-Goltz syndrome. 61
31533758 2019
32
Mandibulofacial dysostosis with microcephaly: a syndrome to remember. 61
31413053 2019
33
Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C. 61
31152339 2019
34
Treating Craniofacial Dysostoses with Hypertelorism by Monobloc Facial Bipartition Distraction: Surgical and Educational Videos. 61
31348356 2019
35
Discussion: Treating Craniofacial Dysostoses with Hypertelorism by Monobloc Facial Bipartition Distraction: Surgical and Educational Videos. 61
31348357 2019
36
Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature. 61
30183454 2019
37
Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation. 61
31443662 2019
38
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. 61
31173466 2019
39
Shprintzen-Goldberg syndrome with plagiocephaly: A case report. 61
31577075 2019
40
The History of Noonan Syndrome. 61
31115193 2019
41
Pathogenic Variants in GPC4 Cause Keipert Syndrome. 61
30982611 2019
42
Radiography of Chitayat syndrome in an infant male. 61
30728880 2019
43
Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report. 61
30455119 2019
44
Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient. 61
30953504 2019
45
Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report. 61
31010437 2019
46
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype. 61
29967133 2019
47
Importance of cardiovascular examination in patients with multiple lentigines: two cases of LEOPARD syndrome with hypertrophic cardiomyopathy. 61
29717636 2019
48
Management of median and paramedian craniofacial clefts. 61
30691993 2019
49
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. 61
30758909 2019
50
State-of-the-Art Hypertelorism Management. 61
30851750 2019

Variations for Hypertelorism

ClinVar genetic disease variations for Hypertelorism:

6 (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
2 MED13L t(12;19)(q24.21;q12)Translocation Pathogenic 218934
3 MT-ATP6 NC_012920.1:m.8993T>GSNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993
4 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr)SNV Pathogenic 13919 rs74799832 10:43617416-43617416 10:43121968-43121968
5 COL1A1 NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser)SNV Pathogenic 17326 rs66527965 17:48270399-48270399 17:50193038-50193038
6 46;XY;t(1;5)(p35.3;q31.3)dnTranslocation Pathogenic 267817
7 46;XY;inv(6)(q22.2q27)dninversion Pathogenic 267839
8 46;XY;t(8;10)(q13;p13)dnTranslocation Pathogenic 267850
9 46;XY;inv(1)(p22.3p34.1)dninversion Pathogenic 268016
10 ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)SNV Pathogenic 242882 rs1114167291 16:89347633-89347633 16:89281225-89281225
11 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs)deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264
12 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs)deletion Pathogenic 523459 rs1554110735 6:10398926-10398927 6:10398693-10398694
13 EFNB1 GRCh37/hg19 Xq13.1(chrX:68058460-68059931)copy number loss Pathogenic 523309 X:68058460-68059931
14 SCN1A NM_006920.6(SCN1A):c.3294dup (p.Ser1099fs)duplication Pathogenic 599005 rs1559193213 2:166892659-166892660 2:166036149-166036150
15 MYH10 NM_001256012.2(MYH10):c.4505G>C (p.Arg1502Pro)SNV Pathogenic 625873 17:8395781-8395781 17:8492463-8492463
16 PIK3CA NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)SNV Pathogenic/Likely pathogenic 376498 rs1057519942 3:178921548-178921548 3:179203760-179203760
17 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
18 FGFR2 NM_022970.3(FGFR2):c.1087+1319C>GSNV Pathogenic/Likely pathogenic 13271 rs121918494 10:123276877-123276877 10:121517363-121517363
19 NSD1 NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln)SNV Pathogenic/Likely pathogenic 159398 rs587784177 5:176710828-176710828 5:177283827-177283827
20 ELN NM_000501.4(ELN):c.1150+1G>ASNV Pathogenic/Likely pathogenic 163391 rs727503030 7:73469100-73469100 7:74054770-74054770
21 RPS6KA3 NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)SNV Likely pathogenic 374121 rs1057518914 X:20211665-20211665 X:20193547-20193547
22 MLLT1 NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln)SNV Likely pathogenic 242890 rs749203329 19:6213798-6213798 19:6213787-6213787
23 46;XY;t(3;17)(p14.3;q24.3)dnTranslocation Likely pathogenic 267799
24 COL11A1 NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)deletion Likely pathogenic 523552 rs1553200431 1:103377736-103377753 1:102912180-102912197
25 KAT6B NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)SNV Likely pathogenic 523500 rs1554846212 10:76789795-76789795 10:75030037-75030037
26 SLC12A6 NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs)duplication Likely pathogenic 523557 rs1555380716 15:34547586-34547587 15:34255385-34255386
27 FGF14 NM_175929.2(FGF14):c.501dup (p.Arg168fs)duplication Likely pathogenic 598976 rs1566823361 13:102379082-102379083 13:101726732-101726733
28 RIT1 NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)SNV Conflicting interpretations of pathogenicity 224122 rs869312687 1:155880486-155880486 1:155910695-155910695
29 PIGL NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)SNV Conflicting interpretations of pathogenicity 30544 rs145303331 17:16220000-16220000 17:16316686-16316686
30 46;XY;t(14;15)(q32.1;q15)dnTranslocation Uncertain significance 267907
31 46;XY;ins(7;10)(q32;q22.1q24.3);t(9;16)(q22;q12.1)dnTranslocation Uncertain significance 267922
32 46;XY;t(16;20)(q23.1;p11.22)Translocation Uncertain significance 267924
33 46;X;inv(X)(p22.31q13.1)dninversion Uncertain significance 267938
34 46;XX;t(5;17)(p15.31~32;q25.3)dnTranslocation Uncertain significance 268007
35 MID1 NM_033290.4(MID1):c.1765A>G (p.Asn589Asp)SNV Uncertain significance 523364 rs1556001939 X:10417647-10417647 X:10449607-10449607
36 subset of 31 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18900000-20500000)copy number gain Uncertain significance 523272 22:18900000-20500000
37 COL5A1 NM_001278074.1(COL5A1):c.3760C>T (p.Pro1254Ser)SNV Uncertain significance 523325 rs1554805125 9:137704466-137704466 9:134812620-134812620
38 46;XX;t(7;14)(p15;q24)dnTranslocation Uncertain significance 268026
39 46;XY;t(1;10;4)(p32.2;q21.1;q23)dnTranslocation Uncertain significance 268034
40 TFAP2B NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp)SNV Uncertain significance 374174 rs1057518947 6:50805696-50805696 6:50837983-50837983
41 PIGL NM_004278.4(PIGL):c.176C>A (p.Pro59His)SNV Uncertain significance 374175 rs1057518948 17:16120716-16120716 17:16217402-16217402

Expression for Hypertelorism

Search GEO for disease gene expression data for Hypertelorism.

Pathways for Hypertelorism

Pathways related to Hypertelorism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 SCN1A RET PIK3CA PAX6 MYH10 MED13L
2 11.44 TWIST1 TFAP2A FGFR2
3 11.17 RET PIK3CA FGFR2
4 11.08 TFAP2A PAX6 MECP2 FGFR2

GO Terms for Hypertelorism

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.95 TWIST1 TFAP2A PAX6 NSD1 MECP2 FGFR2
2 regulation of gene expression GO:0010468 9.8 POGZ PIK3CA PAX6 MECP2
3 in utero embryonic development GO:0001701 9.76 TWIST1 MYH10 FGFR2 ANKRD11
4 neuron migration GO:0001764 9.74 TWIST1 PAX6 MYH10
5 positive regulation of transcription, DNA-templated GO:0045893 9.73 TFAP2A RET PAX6 NSD1 MECP2 COL1A1
6 axonogenesis GO:0007409 9.71 PAX6 MYH10 FGFR2
7 retina development in camera-type eye GO:0060041 9.61 RET PAX6 MYH10
8 cellular response to retinoic acid GO:0071300 9.58 RET FGFR2 COL1A1
9 response to hyperoxia GO:0055093 9.56 MT-ATP6 COL1A1
10 neuron maturation GO:0042551 9.55 RET MECP2
11 bone development GO:0060348 9.54 TWIST1 FGFR2 ANKRD11
12 eyelid development in camera-type eye GO:0061029 9.52 TWIST1 TFAP2A
13 neuromuscular process controlling posture GO:0050884 9.51 SCN1A MECP2
14 skeletal system morphogenesis GO:0048705 9.33 FGFR2 COL1A1 ANKRD11
15 lacrimal gland development GO:0032808 9.32 PAX6 FGFR2
16 embryonic cranial skeleton morphogenesis GO:0048701 9.13 TWIST1 TFAP2A FGFR2
17 axon guidance GO:0007411 9.02 RET PIK3CA PAX6 MYH10 EFNB1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 TWIST1 TFAP2A RET POGZ PIK3CA PAX6

Sources for Hypertelorism

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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