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 saethre-chotzen syndrome. 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 eye, bone and heart, 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 467)
# Related Disease Score Top Affiliating Genes
1 hypertelorism, microtia, facial clefting syndrome 34.6 TWIST1 FGFR2
2 saethre-chotzen syndrome 33.5 TWIST1 FGFR2 EFNB1
3 apert syndrome 32.5 TWIST1 FGFR2 EFNB1
4 crouzon syndrome 32.2 TWIST1 FGFR2 EFNB1
5 hypospadias 31.4 SPECC1L MID1 FGFR2
6 dysostosis 31.2 TWIST1 SPECC1L FGFR2 EFNB1
7 craniosynostosis 31.1 TWIST1 SPECC1L FGFR2 EFNB1
8 synostosis 30.7 TWIST1 FGFR2 EFNB1
9 chromosome 2q35 duplication syndrome 30.6 TWIST1 FGFR2 EFNB1
10 ptosis 30.6 TWIST1 SPECC1L PAX6 MYH10 ANKRD11
11 farsightedness 30.5 NSD1 ANKRD11
12 coloboma of iris 30.2 TFAP2A PAX6
13 cleft palate, isolated 30.1 TWIST1 TFAP2A SPECC1L NSD1 FGFR2
14 strabismus 29.9 TWIST1 POGZ PAX6 MED13L FGFR2
15 vesicoureteral reflux 1 29.5 RET MED13L FGFR2
16 cornelia de lange syndrome 29.4 POGZ MED13L MECP2 ANKRD11
17 scoliosis 29.3 NSD1 MED13L MECP2 FGFR2 ELN COL1A1
18 esotropia 29.3 TFAP2A PAX6 ANKRD11
19 visual epilepsy 29.2 SCN1A POGZ NSD1 MECP2 ANKRD11
20 alacrima, achalasia, and mental retardation syndrome 29.1 SCN1A MED13L MECP2 ANKRD11
21 microcephaly 28.3 TWIST1 SCN1A RET POGZ PAX6 NSD1
22 hypertelorism, teebi type 12.6
23 intellectual developmental disorder with hypertelorism and distinctive facies 12.4
24 hypertelorism, preauricular sinus, punctal pits, and deafness 12.4
25 intellectual deficit - short stature - hypertelorism 12.4
26 hypertelorism and tetralogy of fallot 12.3
27 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes 12.3
28 intellectual disability-short stature-hypertelorism syndrome 12.2
29 donnai-barrow syndrome 12.2
30 corpus callosum agenesis-macrocephaly-hypertelorism syndrome 12.1
31 opitz-gbbb syndrome 12.1
32 opitz gbbb syndrome, type ii 12.1
33 opitz gbbb syndrome, type i 12.0
34 baraitser-winter syndrome 1 12.0
35 baraitser-winter syndrome 12.0
36 acrofrontofacionasal dysostosis 2 12.0
37 hamamy syndrome 12.0
38 elsahy-waters syndrome 12.0
39 gastrocutaneous syndrome 11.9
40 hartsfield syndrome 11.8
41 seaver cassidy syndrome 11.8
42 craniofacial-deafness-hand syndrome 11.7
43 noonan syndrome with multiple lentigines 11.7
44 mandibulofacial dysostosis with macroblepharon and macrostomia 11.7
45 wolf-hirschhorn syndrome 11.6
46 craniofrontonasal syndrome 11.6
47 frontonasal dysplasia 1 11.5
48 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 11.4
49 external auditory canal, bilateral atresia of, with congenital vertical talus 11.4
50 bagatelle cassidy syndrome 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 94-09-7, 1994-09-7 2337
3
Simvastatin Approved Phase 2 79902-63-9 54454
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
5 Lipid Regulating Agents Phase 2
6 Hypolipidemic Agents Phase 2
7 Anticholesteremic Agents Phase 2
8 Antimetabolites Phase 2
9 Anesthetics Phase 2
10 Antioxidants Phase 2
11 Protective Agents Phase 2
12 Gastrointestinal Agents Phase 1, Phase 2
13 Cholic Acids Phase 1, Phase 2
14 Phytosterol

Interventional clinical trials:

(show all 12)
# 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 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
8 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
9 Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630460
10 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
11 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Terminated NCT01356420
12 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
Eye, Bone, Heart, Skin, Brain, Pituitary, Kidney

Publications for Hypertelorism

Articles related to Hypertelorism:

(show top 50) (show all 2169)
# Title Authors PMID Year
1
Hypertelorism: interorbital growth, measurements, and pathogenetic considerations. 56 61
8636632 1995
2
Hypertelorism in Several Generations. 61 56
21031712 1927
3
[Physiological euryopia and pathological hypertelorismus ocularis]. 56
13206986 1954
4
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa). 61
32406590 2020
5
Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing. 61
32577269 2020
6
A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin. 61
32240827 2020
7
Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it. 61
32495660 2020
8
Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha-2a therapy: Case report. 61
32065515 2020
9
Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis. 61
32510873 2020
10
Treatment of the Patient With Crouzon Syndrome With Orthognathic Surgery. 61
31934979 2020
11
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. 61
32130795 2020
12
Thyrotoxic Periodic Paralysis With Features of Andersen-Tawil Syndrome: A Case Report and Literature Review. 61
32432016 2020
13
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability. 61
32397165 2020
14
Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report. 61
32357851 2020
15
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases. 61
32295219 2020
16
First report of tethered cord syndrome in a patient with Sotos syndrome. 61
32331522 2020
17
A Novel Missense Variant in the ALX4 Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family. 61
32216639 2020
18
Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance. 61
31945512 2020
19
Greig Cephalopolysyndactyly Syndrome with Oral Manifestations: A Rare Case Report. 61
32566533 2020
20
A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum. 61
31953237 2020
21
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 61
31568861 2020
22
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature. 61
32003537 2020
23
Outcomes of Intracranial Versus Subcranial Approaches to the Frontofacial Skeleton. 61
32439382 2020
24
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. 61
32109420 2020
25
[A case report of BCL11B mutation induced neurodevelopmental disorder and literature review]. 61
32135595 2020
26
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. 61
32164556 2020
27
Dental and maxillofacial features of Noonan Syndrome: Case series of ten patients. 61
32113883 2020
28
4q27 deletion and 7q36.1 microduplication in a patient with multiple malformations and hearing loss: a case report. 61
32126996 2020
29
Postoperative Complications of Box-Shift Osteotomy for Orbital Hypertelorism. 61
31977694 2020
30
Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands. 61
32152069 2020
31
Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings. 61
31428919 2020
32
Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant. 61
32021610 2020
33
Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review. 61
32373379 2020
34
Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation. 61
32187602 2020
35
Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome. 61
32528524 2020
36
Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat. 61
32467733 2020
37
ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome. 61
31600785 2019
38
Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings. 61
31942422 2019
39
Frontonasal dysplasia: A case report. 61
31914496 2019
40
Apert syndrome: prenatal diagnosis challenge. 61
31822532 2019
41
Hypertelorism. 61
31679589 2019
42
Addressing hypertelorism: Indications and techniques. 61
31557491 2019
43
Case series: Amniotic band sequence with craniofacial abnormalities. 61
31407870 2019
44
Lacrimal drainage anomalies in Tessier cleft 3 with unilateral anophthalmos. 61
31771345 2019
45
Surgical treatment of orbital hypertelorism: Historical evolution and development prospects. 61
31519384 2019
46
Virtual 3D planning of osteotomies for craniosynostoses and complex craniofacial malformations. 61
31568779 2019
47
The relationship between external bony defects and widened lateral interorbital distance in frontoethmoidal encephalomeningocele. 61
31409529 2019
48
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome. 61
31573334 2019
49
Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome. 61
31403828 2019
50
Ocular manifestations in Gorlin-Goltz syndrome. 61
31533758 2019

Variations for Hypertelorism

ClinVar genetic disease variations for Hypertelorism:

6 (show all 42) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs)deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264
2 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs)deletion Pathogenic 523459 rs1554110735 6:10398926-10398927 6:10398693-10398694
3 EFNB1 GRCh37/hg19 Xq13.1(chrX:68058460-68059931)copy number loss Pathogenic 523309 X:68058460-68059931
4 SCN1A NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs)duplication Pathogenic 599005 rs1559193213 2:166892659-166892660 2:166036149-166036150
5 MYH10 NM_001256012.2(MYH10):c.4505G>C (p.Arg1502Pro)SNV Pathogenic 625873 17:8395781-8395781 17:8492463-8492463
6 NCBI36/hg18 9q22.32-22.33(chr9:95946863-99986314)x1copy number loss Pathogenic 694603
7 MT-ATP6 NC_012920.1:m.8993T>GSNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993
8 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr)SNV Pathogenic 13919 rs74799832 10:43617416-43617416 10:43121968-43121968
9 COL1A1 NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser)SNV Pathogenic 17326 rs66527965 17:48270399-48270399 17:50193038-50193038
10 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
11 46;XY;t(1;5)(p35.3;q31.3)dnTranslocation Pathogenic 267817
12 46;XY;inv(6)(q22.2q27)dninversion Pathogenic 267839
13 46;XY;t(8;10)(q13;p13)dnTranslocation Pathogenic 267850
14 MED13L t(12;19)(q24.21;q12)Translocation Pathogenic 218934
15 ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)SNV Pathogenic 242882 rs1114167291 16:89347633-89347633 16:89281225-89281225
16 46;XY;inv(1)(p22.3p34.1)dninversion Pathogenic 268016
17 NSD1 NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln)SNV Pathogenic/Likely pathogenic 159398 rs587784177 5:176710828-176710828 5:177283827-177283827
18 ELN NM_000501.4(ELN):c.1150+1G>ASNV Pathogenic/Likely pathogenic 163391 rs727503030 7:73469100-73469100 7:74054770-74054770
19 FGFR2 NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)SNV Pathogenic/Likely pathogenic 13271 rs121918494 10:123276877-123276877 10:121517363-121517363
20 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
21 PIK3CA NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)SNV Pathogenic/Likely pathogenic 376498 rs1057519942 3:178921548-178921548 3:179203760-179203760
22 COL11A1 NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)deletion Likely pathogenic 523552 rs1553200431 1:103377736-103377753 1:102912180-102912197
23 RPS6KA3 NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)SNV Likely pathogenic 374121 rs1057518914 X:20211665-20211665 X:20193547-20193547
24 FGF14 NM_004115.3(FGF14):c.486dup (p.Arg163fs)duplication Likely pathogenic 598976 rs1566823361 13:102379082-102379083 13:101726732-101726733
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 MLLT1 NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln)SNV Likely pathogenic 242890 rs749203329 19:6213798-6213798 19:6213787-6213787
28 46;XY;t(3;17)(p14.3;q24.3)dnTranslocation Likely pathogenic 267799
29 RIT1 NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)SNV Conflicting interpretations of pathogenicity 224122 rs869312687 1:155880486-155880486 1:155910695-155910695
30 PIGL NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)SNV Conflicting interpretations of pathogenicity 30544 rs145303331 17:16220000-16220000 17:16316686-16316686
31 MID1 NM_000381.4(MID1):c.1765A>G (p.Asn589Asp)SNV Uncertain significance 523364 rs1556001939 X:10417647-10417647 X:10449607-10449607
32 subset of 31 genes: TBX1 GRCh37/hg19 22q11.21(chr22:18900000-20500000)copy number gain Uncertain significance 523272 22:18900000-20500000
33 COL5A1 NM_001278074.1(COL5A1):c.3760C>T (p.Pro1254Ser)SNV Uncertain significance 523325 rs1554805125 9:137704466-137704466 9:134812620-134812620
34 46;XX;t(7;14)(p15;q24)dnTranslocation Uncertain significance 268026
35 46;XY;t(1;10;4)(p32.2;q21.1;q23)dnTranslocation Uncertain significance 268034
36 TFAP2B NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp)SNV Uncertain significance 374174 rs1057518947 6:50805696-50805696 6:50837983-50837983
37 PIGL NM_004278.4(PIGL):c.176C>A (p.Pro59His)SNV Uncertain significance 374175 rs1057518948 17:16120716-16120716 17:16217402-16217402
38 46;XY;t(14;15)(q32.1;q15)dnTranslocation Uncertain significance 267907
39 46;XY;ins(7;10)(q32;q22.1q24.3);t(9;16)(q22;q12.1)dnTranslocation Uncertain significance 267922
40 46;XY;t(16;20)(q23.1;p11.22)Translocation Uncertain significance 267924
41 46;X;inv(X)(p22.31q13.1)dninversion Uncertain significance 267938
42 46;XX;t(5;17)(p15.31~32;q25.3)dnTranslocation Uncertain significance 268007

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 11.18 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 16)
# 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 in utero embryonic development GO:0001701 9.76 TWIST1 MYH10 FGFR2 ANKRD11
3 neuron migration GO:0001764 9.73 TWIST1 PAX6 MYH10
4 positive regulation of transcription, DNA-templated GO:0045893 9.73 TFAP2A RET PAX6 NSD1 MECP2 COL1A1
5 axonogenesis GO:0007409 9.71 PAX6 MYH10 FGFR2
6 cellular response to retinoic acid GO:0071300 9.61 RET FGFR2 COL1A1
7 retina development in camera-type eye GO:0060041 9.58 RET PAX6 MYH10
8 response to hyperoxia GO:0055093 9.55 MT-ATP6 COL1A1
9 bone development GO:0060348 9.54 TWIST1 FGFR2 ANKRD11
10 neuron maturation GO:0042551 9.52 RET MECP2
11 eyelid development in camera-type eye GO:0061029 9.51 TWIST1 TFAP2A
12 neuromuscular process controlling posture GO:0050884 9.49 SCN1A MECP2
13 skeletal system morphogenesis GO:0048705 9.33 FGFR2 COL1A1 ANKRD11
14 lacrimal gland development GO:0032808 9.32 PAX6 FGFR2
15 embryonic cranial skeleton morphogenesis GO:0048701 9.13 TWIST1 TFAP2A FGFR2
16 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 9.58 TWIST1 TFAP2A SPECC1L RET POGZ PIK3CA

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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