Aliases & Classifications for Hypertelorism

MalaCards integrated aliases for Hypertelorism:

Name: Hypertelorism 57 29 6 33

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypertelorism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 145400
ICD10 33 Q75.2
MedGen 42 C0020534

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 and kbg syndrome. An important gene associated with Hypertelorism is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Developmental Biology and Neuroscience. The drugs Simvastatin and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and heart, and related phenotypes are hypertelorism and embryo

Wikipedia : 75 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 449)
# Related Disease Score Top Affiliating Genes
1 opitz-gbbb syndrome 33.8 SPECC1L MID1
2 kbg syndrome 32.2 MECP2 ANKRD11
3 hypospadias 31.8 SPECC1L MID1 FGFR2
4 white-sutton syndrome 31.6 POGZ MECP2
5 axenfeld-rieger syndrome, type 3 31.5 PAX6 COL1A1
6 synostosis 31.0 TWIST1 FGFR2 EFNB1
7 ptosis 30.9 TWIST1 PAX6 ANKRD11
8 macrostomia, isolated 30.9 SPECC1L POGZ
9 cleft palate, isolated 30.6 TWIST1 TFAP2A FGFR2 COL11A1
10 coloboma of iris 30.6 TFAP2A PAX6
11 esotropia 29.9 TFAP2A COL11A1 ANKRD11
12 strabismus 29.8 TWIST1 POGZ MED13L FGFR2 COL11A1
13 visual epilepsy 29.7 SCN1A POGZ MECP2
14 scoliosis 29.4 NSD1 MED13L MECP2 COL1A1
15 alacrima, achalasia, and mental retardation syndrome 28.9 SCN1A MED13L MECP2 ANKRD11
16 hypertelorism, teebi type 12.6
17 hypertelorism, microtia, facial clefting syndrome 12.6
18 intellectual developmental disorder with hypertelorism and distinctive facies 12.4
19 hypertelorism, preauricular sinus, punctal pits, and deafness 12.4
20 intellectual deficit - short stature - hypertelorism 12.4
21 hypertelorism and tetralogy of fallot 12.3
22 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes 12.3
23 donnai-barrow syndrome 12.1
24 intellectual disability-short stature-hypertelorism syndrome 12.1
25 corpus callosum agenesis-macrocephaly-hypertelorism syndrome 12.1
26 opitz gbbb syndrome, type ii 12.1
27 opitz gbbb syndrome, type i 12.0
28 baraitser-winter syndrome 1 12.0
29 baraitser-winter syndrome 12.0
30 hamamy syndrome 12.0
31 elsahy-waters syndrome 11.9
32 acrofrontofacionasal dysostosis 2 11.9
33 gastrocutaneous syndrome 11.9
34 saethre-chotzen syndrome 11.9
35 hartsfield syndrome 11.8
36 seaver cassidy syndrome 11.8
37 leopard syndrome 11.7
38 craniofacial-deafness-hand syndrome 11.7
39 mandibulofacial dysostosis with macroblepharon and macrostomia 11.6
40 wolf-hirschhorn syndrome 11.6
41 frontonasal dysplasia 1 11.5
42 craniofrontonasal syndrome 11.5
43 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 11.4
44 external auditory canal, bilateral atresia of, with congenital vertical talus 11.4
45 bagatelle cassidy syndrome 11.4
46 santos mateus leal syndrome 11.4
47 sotos syndrome 1 11.4
48 3mc syndrome 1 11.4
49 acromelic frontonasal dysostosis 11.4
50 noonan syndrome 1 11.3

Graphical network of the top 20 diseases related to Hypertelorism:



Diseases related to Hypertelorism

Symptoms & Phenotypes for Hypertelorism

Human phenotypes related to Hypertelorism:

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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
hypertelorism

Clinical features from OMIM:

145400

MGI Mouse Phenotypes related to Hypertelorism:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.32 ANKRD11 COL1A1 EFNB1 FGFR2 MECP2 MID1
2 behavior/neurological MP:0005386 10.31 ANKRD11 COL1A1 FGFR2 MECP2 MID1 MYH10
3 growth/size/body region MP:0005378 10.31 ANKRD11 COL11A1 COL1A1 EFNB1 FGFR2 MECP2
4 cellular MP:0005384 10.29 COL1A1 EFNB1 FGFR2 MECP2 MYH10 PAX6
5 craniofacial MP:0005382 10.28 ANKRD11 COL11A1 COL1A1 EFNB1 FGFR2 MECP2
6 mortality/aging MP:0010768 10.28 ANKRD11 COL11A1 COL1A1 EFNB1 FGFR2 MECP2
7 cardiovascular system MP:0005385 10.21 COL1A1 FGFR2 MECP2 MYH10 PAX6 RET
8 immune system MP:0005387 10.16 ANKRD11 COL11A1 COL1A1 EFNB1 FGFR2 MECP2
9 digestive/alimentary MP:0005381 10.13 COL11A1 COL1A1 EFNB1 FGFR2 PAX6 RET
10 nervous system MP:0003631 10.13 COL11A1 COL1A1 EFNB1 FGFR2 MECP2 MID1
11 hearing/vestibular/ear MP:0005377 10.08 ANKRD11 COL11A1 COL1A1 EFNB1 FGFR2 MECP2
12 limbs/digits/tail MP:0005371 9.98 COL11A1 COL1A1 EFNB1 FGFR2 RET TFAP2A
13 muscle MP:0005369 9.91 COL1A1 FGFR2 MID1 MYH10 PAX6 RET
14 normal MP:0002873 9.91 COL1A1 FGFR2 MECP2 MID1 MYH10 PAX6
15 respiratory system MP:0005388 9.81 COL11A1 COL1A1 EFNB1 FGFR2 MECP2 PAX6
16 skeleton MP:0005390 9.65 ANKRD11 COL11A1 COL1A1 EFNB1 FGFR2 MECP2
17 vision/eye MP:0005391 9.23 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
Simvastatin Approved Phase 2 79902-63-9 54454
2
tannic acid Approved Phase 1, Phase 2 1401-55-4
3
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
4 Lipid Regulating Agents Phase 2
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
6 Hypolipidemic Agents Phase 2
7 Antimetabolites Phase 2
8 Anticholesteremic Agents Phase 2
9 Antioxidants Phase 2
10 Protective Agents Phase 2
11 Anesthetics Phase 2
12 Gastrointestinal Agents Phase 1, Phase 2
13 Cholic Acids Phase 1, Phase 2
14 Phytosterol

Interventional clinical trials:

(show all 14)
# 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 Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Simvastatin
8 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
9 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
10 Bohring-Opitz Syndrome and ASXL-Related Phenotypes Registry Recruiting NCT03303716
11 Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630460
12 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
13 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Terminated NCT01356420
14 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:

41
Eye, Bone, Heart, Skin, Brain, Pituitary, Kidney

Publications for Hypertelorism

Articles related to Hypertelorism:

(show top 50) (show all 2121)
# Title Authors PMID Year
1
Hypertelorism: interorbital growth, measurements, and pathogenetic considerations. 38 8
8636632 1995
2
Hypertelorism in Several Generations. 38 8
21031712 1927
3
[Physiological euryopia and pathological hypertelorismus ocularis]. 8
13206986 1954
4
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome. 38
31285555 2019
5
Treating Craniofacial Dysostoses with Hypertelorism by Monobloc Facial Bipartition Distraction: Surgical and Educational Videos. 38
31348356 2019
6
Discussion: Treating Craniofacial Dysostoses with Hypertelorism by Monobloc Facial Bipartition Distraction: Surgical and Educational Videos. 38
31348357 2019
7
Case series: Amniotic band sequence with craniofacial abnormalities. 38
31407870 2019
8
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. 38
31173466 2019
9
Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature. 38
30183454 2019
10
Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C. 38
31152339 2019
11
Mandibulofacial dysostosis with microcephaly: a syndrome to remember. 38
31413053 2019
12
Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings. 38
31428919 2019
13
Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome. 38
31403828 2019
14
The relationship between external bony defects and widened lateral interorbital distance in frontoethmoidal encephalomeningocele. 38
31409529 2019
15
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. 38
31336229 2019
16
Controversy on the Age of Hypertelorism Correction. 38
31107381 2019
17
Pathogenic Variants in GPC4 Cause Keipert Syndrome. 38
30982611 2019
18
The History of Noonan Syndrome. 38
31115193 2019
19
Importance of cardiovascular examination in patients with multiple lentigines: two cases of LEOPARD syndrome with hypertrophic cardiomyopathy. 38
29717636 2019
20
State-of-the-Art Hypertelorism Management. 38
30851750 2019
21
Management of median and paramedian craniofacial clefts. 38
30691993 2019
22
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. 38
30758909 2019
23
Radiography of Chitayat syndrome in an infant male. 38
30728880 2019
24
Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report. 38
30455119 2019
25
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype. 38
29967133 2019
26
Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient. 38
30953504 2019
27
Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report. 38
31010437 2019
28
[Liver dysfunction for 8 years with hypertension for 1 week in an 8-year-old girl]. 38
30907355 2019
29
Exposure, entropion, and bilateral corneal ulceration in a newborn as a manifestation of chromosome 22 q11.2 duplication syndrome. 38
30505980 2019
30
Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation. 38
30962759 2019
31
A novel mutation in the GATAD2B gene associated with severe intellectual disability. 38
30482549 2019
32
Barber Say Syndrome (A New Case Report). 38
30984591 2019
33
An enigma of Gorlin-Goltz syndrome: Two cases reported in mother and daughter. 38
30967739 2019
34
Clinical and genetic findings of two cases with Apert syndrome. 38
30657466 2019
35
UBE2A-related X-linked intellectual disability. 38
30179896 2019
36
Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature. 38
31244773 2019
37
Ocular Manifestations of the NAA10-Related Syndrome. 38
31093388 2019
38
[Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: a case report and literature review]. 38
30630233 2019
39
Gorlin-Goltz syndrome. 38
30995852 2019
40
Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome. 38
30591916 2018
41
Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. 38
30450715 2018
42
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. 38
30526868 2018
43
Rhombencephalosynapsis: Fused cerebellum, confused geneticists. 38
30580482 2018
44
A Cleidocranial Dysplasia Case with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment. 38
30468148 2018
45
[Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome]. 38
30392209 2018
46
Ultrasonographic prenatal imaging of fetal ocular and orbital abnormalities. 38
29705173 2018
47
Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature. 38
30442194 2018
48
PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities. 38
29808498 2018
49
Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature. 38
29689188 2018
50
Surgery of complex craniofacial defects: A single-step AM-based methodology. 38
30337077 2018

Variations for Hypertelorism

ClinVar genetic disease variations for Hypertelorism:

6 (show all 40)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POGZ NM_015100.4(POGZ): c.2771del (p.Pro924fs) deletion Pathogenic rs1553212868 1:151378740-151378740 1:151406264-151406264
2 TFAP2A NM_003220.3(TFAP2A): c.1037_1038del (p.Lys346fs) deletion Pathogenic rs1554110735 6:10398926-10398927 6:10398693-10398694
3 EFNB1 GRCh37/hg19 Xq13.1(chrX: 68058460-68059931) copy number loss Pathogenic X:68058460-68059931 :0-0
4 MT-ATP6 NC_012920.1: m.8993T> G single nucleotide variant Pathogenic rs199476133 MT:8993-8993 MT:8993-8993
5 RET NM_020630.5(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 10:43617416-43617416 10:43121968-43121968
6 COL1A1 NM_000088.3(COL1A1): c.1777G> A (p.Gly593Ser) single nucleotide variant Pathogenic rs66527965 17:48270399-48270399 17:50193038-50193038
7 46;XY;t(1;5)(p35.3;q31.3)dn Translocation Pathogenic
8 46;XY;inv(6)(q22.2q27)dn inversion Pathogenic
9 46;XY;t(8;10)(q13;p13)dn Translocation Pathogenic
10 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 5:176662864-176662864 5:177235863-177235863
11 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic
12 ANKRD11 NM_001256182.2(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 16:89347633-89347633 16:89281225-89281225
13 46;XY;inv(1)(p22.3p34.1)dn inversion Pathogenic
14 SCN1A NM_006920.6(SCN1A): c.3294dup (p.Ser1099fs) duplication Pathogenic 2:166892659-166892660 2:166036150-166036150
15 MYH10 NM_001256012.2(MYH10): c.4505G> C (p.Arg1502Pro) single nucleotide variant Pathogenic 17:8395781-8395781 17:8492463-8492463
16 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 5:176710828-176710828 5:177283827-177283827
17 ELN NM_000501.4(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 7:73469100-73469100 7:74054770-74054770
18 FGFR2 NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918494 10:123276877-123276877 10:121517363-121517363
19 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121907922 11:31811483-31811483 11:31789935-31789935
20 RPS6KA3 NM_004586.3(RPS6KA3): c.533C> G (p.Ala178Gly) single nucleotide variant Likely pathogenic rs1057518914 X:20211665-20211665 X:20193547-20193547
21 COL11A1 NM_080629.2(COL11A1): c.4084_4101del (p.Ser1362_Pro1367del) deletion Likely pathogenic rs1553200431 1:103377736-103377753 1:102912180-102912197
22 KAT6B NM_012330.4(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic rs1554846212 10:76789795-76789795 10:75030037-75030037
23 SLC12A6 NM_005135.2(SLC12A6): c.599dup (p.Ser201fs) duplication Likely pathogenic rs1555380716 15:34547587-34547587 15:34255386-34255386
24 MLLT1 NM_005934.4(MLLT1): c.1418G> A (p.Arg473Gln) single nucleotide variant Likely pathogenic rs749203329 19:6213798-6213798 19:6213787-6213787
25 46;XY;t(3;17)(p14.3;q24.3)dn Translocation Likely pathogenic
26 FGF14 NM_175929.2(FGF14): c.501dup (p.Arg168fs) duplication Likely pathogenic 13:102379082-102379083 13:101726733-101726733
27 RIT1 NM_006912.6(RIT1): c.67A> C (p.Lys23Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs869312687 1:155880486-155880486 1:155910695-155910695
28 PIGL NM_004278.4(PIGL): c.500T> C (p.Leu167Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145303331 17:16220000-16220000 17:16316686-16316686
29 COL5A1 NM_000093.4(COL5A1): c.3760C> T (p.Pro1254Ser) single nucleotide variant Uncertain significance rs1554805125 9:137704466-137704466 9:134812620-134812620
30 MID1 NM_033290.4(MID1): c.1765A> G (p.Asn589Asp) single nucleotide variant Uncertain significance rs1556001939 X:10417647-10417647 X:10449607-10449607
31 subset of 31 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18900000-20500000) copy number gain Uncertain significance 22:18900000-20500000 :0-0
32 TFAP2B NM_003221.4(TFAP2B): c.830C> G (p.Ser277Trp) single nucleotide variant Uncertain significance rs1057518947 6:50805696-50805696 6:50837983-50837983
33 PIGL NM_004278.4(PIGL): c.176C> A (p.Pro59His) single nucleotide variant Uncertain significance rs1057518948 17:16120716-16120716 17:16217402-16217402
34 46;XX;t(7;14)(p15;q24)dn Translocation Uncertain significance
35 46;XY;t(1;10;4)(p32.2;q21.1;q23)dn Translocation Uncertain significance
36 46;XY;t(14;15)(q32.1;q15)dn Translocation Uncertain significance
37 Translocation Uncertain significance
38 46;XY;t(16;20)(q23.1;p11.22) Translocation Uncertain significance
39 46;X;inv(X)(p22.31q13.1)dn inversion Uncertain significance
40 46;XX;t(5;17)(p15.31~32;q25.3)dn Translocation Uncertain significance

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
13.01 SCN1A RET PAX6 MYH10 MED13L FGFR2
2 11.99 TFAP2A SCN1A RET MECP2
3 11.18 TFAP2A RIT1 PAX6 MECP2 FGFR2
4 11.14 TWIST1 TFAP2A FGFR2

GO Terms for Hypertelorism

Cellular components related to Hypertelorism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.8 ELN COL1A1 COL11A1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.97 TWIST1 TFAP2A PAX6 NSD1 MECP2 FGFR2
2 animal organ morphogenesis GO:0009887 9.77 PAX6 FGFR2 ELN
3 neuron migration GO:0001764 9.76 TWIST1 PAX6 MYH10
4 ossification GO:0001503 9.74 TWIST1 COL1A1 COL11A1
5 axonogenesis GO:0007409 9.73 PAX6 MYH10 FGFR2
6 axon guidance GO:0007411 9.73 RET PAX6 MYH10 EFNB1
7 in utero embryonic development GO:0001701 9.67 TWIST1 MYH10 FGFR2 ANKRD11
8 cellular response to retinoic acid GO:0071300 9.65 RET FGFR2 COL1A1
9 retina development in camera-type eye GO:0060041 9.63 RET PAX6 MYH10
10 positive regulation of transcription, DNA-templated GO:0045893 9.63 TFAP2A RET PAX6 NSD1 MECP2 COL1A1
11 histone methylation GO:0016571 9.61 NSD1 MECP2
12 embryonic pattern specification GO:0009880 9.61 FGFR2 EFNB1
13 aortic valve morphogenesis GO:0003180 9.6 TWIST1 ELN
14 response to hyperoxia GO:0055093 9.58 MT-ATP6 COL1A1
15 inner ear morphogenesis GO:0042472 9.58 TFAP2A FGFR2 COL11A1
16 neuromuscular process controlling posture GO:0050884 9.55 SCN1A MECP2
17 eyelid development in camera-type eye GO:0061029 9.54 TWIST1 TFAP2A
18 neuron maturation GO:0042551 9.52 RET MECP2
19 bone development GO:0060348 9.43 TWIST1 FGFR2 ANKRD11
20 lacrimal gland development GO:0032808 9.32 PAX6 FGFR2
21 negative regulation of histone acetylation GO:0035067 9.21 TWIST1
22 embryonic cranial skeleton morphogenesis GO:0048701 9.13 TWIST1 TFAP2A FGFR2
23 skeletal system morphogenesis GO:0048705 8.92 FGFR2 COL1A1 COL11A1 ANKRD11

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 ELN COL1A1 COL11A1

Sources for Hypertelorism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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