MCID: HMF006
MIFTS: 58

Hemifacial Microsomia

Categories: Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Hemifacial Microsomia

MalaCards integrated aliases for Hemifacial Microsomia:

Name: Hemifacial Microsomia 57 12 76 53 59 13
Goldenhar Syndrome 57 12 76 53 59 29 44 15 73
Oculoauriculovertebral Dysplasia 57 53 59
Oav Dysplasia 57 53 59
Oavs 57 53 59
First and Second Branchial Arch Syndrome 12 53
Expanded Spectrum Hemifacial Microsomia 53 59
Oculo-Auriculo-Vertebral Dysplasia 76 53
Oculo-Auriculo-Vertebral Spectrum 76 53
Facioauriculovertebral Dysplasia 53 59
Facioauriculovertebral Sequence 57 53
Oculoauriculovertebral Syndrome 53 59
Otomandibular Dysostosis 12 59
Fav Sequence 57 53
Goldenhar Syndrome with Ipsilateral Radial Defect 73
Expanded Spectrum of Hemifacial Microsomia 53
Oculoauriculovertebral Spectrum; Oavs 57
Facio-Auriculo-Vertebral Spectrum 12
Oculoauriculovertebral Spectrum 57
First Branchial Arch Syndrome 59
Laterofacial Microsomia 59
Otomandibular Syndrome 59
Microsomia, Hemifacial 40
First Arch Syndrome 12
Goldenhar Disease 53
Oav Dysplasia 12
Oavd 53
Hfm 57

Characteristics:

Orphanet epidemiological data:

59
goldenhar syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
most cases are sporadic
discordant phenotype among monozygotic twins has been reported
abnormal morphogenesis of first and second branchial arches
estimated frequence 1/3000 to 1/5000
slight male predominance (3:2)
often unilateral involvement


HPO:

32
hemifacial microsomia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemifacial Microsomia

NIH Rare Diseases : 53 Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. The main sign and symptoms are facial asymmetry (one side of the face is different from the other), a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the heart, lungs, kidneys, and central nervous system. It is due to problems that occur when the fetus is forming within the womb of the mother, in structures known as the first and second brachial arch. These structures will develop to form the neck and the head. The cause is still unknown. Goldenhar syndrome is part of a group of conditions known as craniofacial microsomia. It is not known whether the conditions included in the group really are different conditions or part of the same problem with different degrees of severity. Treatment is age-dependent, with interventions at appropriate stages during the growth and development of the skull and face.

MalaCards based summary : Hemifacial Microsomia, also known as goldenhar syndrome, is related to townes-brocks syndrome and branchiootorenal syndrome. An important gene associated with Hemifacial Microsomia is HFM (Hemifacial Microsomia), and among its related pathways/superpathways is Transcriptional regulation of pluripotent stem cells. The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and lung, and related phenotypes are malar flattening and agenesis of corpus callosum

OMIM : 57 Hemifacial microsomia is a common birth defect involving the first and second branchial arch derivatives. It typically affects the external ear, middle ear, mandible and temporomandibular joint, muscles of mastication and facial muscles, and other facial soft tissues on the affected side. In some cases, other facial structures, such as the orbit, eye, nose, cranium, or neck, may be involved. Involvement is usually limited to one side, but bilateral involvement is known. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. The phenotype is highly variable. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance (summary by Poole, 1989 and Hennekam et al., 2010). See also hemifacial microsomia with radial defects (141400) and oculoauriculofrontonasal dysplasia (OAFNS; 601452), which may be part of the OAV spectrum. (164210)

Disease Ontology : 12 A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.

Wikipedia : 76 Goldenhar syndrome (also known as oculo-auriculo-vertebral (OAV) syndrome) is a rare congenital defect... more...

Related Diseases for Hemifacial Microsomia

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 townes-brocks syndrome 30.1 SALL1 SALL4
2 branchiootorenal syndrome 29.7 HOXA2 OTX2 SALL1
3 treacher collins syndrome 1 29.4 ALX3 HOXA2
4 renal hypodysplasia/aplasia 1 29.3 HOXA2 SALL1
5 hemifacial microsomia with radial defects 12.4
6 craniofacial microsomia 11.9
7 folate malabsorption, hereditary 11.8
8 vacterl association 11.5
9 klippel-feil syndrome 11.2
10 duane-radial ray syndrome 10.3 SALL1 SALL4
11 dysostosis 10.2
12 chromosome 10p duplication 10.2
13 microtia 10.2
14 hemifacial hyperplasia 10.1
15 facial paralysis 10.1
16 ankylosis 10.1
17 cleft lip 10.1
18 sirenomelia 10.1
19 cleft lip/palate 10.1
20 cat eye syndrome 9.9
21 cri-du-chat syndrome 9.9
22 femoral-facial syndrome 9.9
23 solitary median maxillary central incisor 9.9
24 optic nerve hypoplasia, bilateral 9.9
25 palatopharyngeal incompetence 9.9
26 telecanthus 9.9
27 vater/vacterl association 9.9
28 cerebellar hypoplasia 9.9
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
30 lymphedema 9.9
31 inguinal hernia 9.9
32 microphthalmia 9.9
33 heart disease 9.9
34 pancreatitis 9.9
35 skin tag 9.9
36 neuropathy 9.9
37 gigantism 9.9
38 branchiootorenal/branchiootic syndrome 9.9
39 hypotonia 9.9
40 ptosis 9.9
41 congenital ptosis 9.9
42 central core myopathy 9.9
43 myopathy 9.9
44 poland syndrome 9.8 ALX3 HOXA2
45 anus, imperforate 9.8 SALL1 SATB2
46 agnathia-otocephaly complex 9.8 ALX3 OTX2
47 acrofrontofacionasal dysostosis 9.6 ALX3 SATB2
48 van der woude syndrome 1 9.6 BRF1 SATB2
49 maxillonasal dysplasia, binder type 9.5 ALX3 SATB2
50 meningocele 9.5 ALX3 SATB2

Graphical network of the top 20 diseases related to Hemifacial Microsomia:



Diseases related to Hemifacial Microsomia

Symptoms & Phenotypes for Hemifacial Microsomia

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
agenesis of corpus callosum
hydrocephalus
arnold-chiari malformation
occipital encephalocele
mental retardation
more
Head And Neck Mouth:
cleft palate
cleft lip
macrostomia
parotid agenesis
soft palate malfunction

Head And Neck Eyes:
strabismus
microphthalmia
blepharophimosis
epibulbar dermoid
anophthalmia
more
Genitourinary Ureters:
vesicoureteral reflux
ureteropelvic junction obstruction

Skeletal Spine:
hemivertebrae
block vertebrae
vertebral hypoplasia
vertebral anomalies

Head And Neck Neck:
branchial cleft remnant

Head And Neck Ears:
microtia
unilateral external ear deformity
anotia
hearing loss, conductive
preauricular tags
more
Genitourinary Kidneys:
ectopic kidney
renal agenesis
multicystic dysplastic kidney

Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect
aortic coarctation

Head And Neck Face:
facial asymmetry
maxillary hypoplasia
mandibular hypoplasia
malar hypoplasia
small half of face
more
Respiratory Lung:
lung hypoplasia


Clinical features from OMIM:

164210

Human phenotypes related to Hemifacial Microsomia:

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
5 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
8 microtia 59 32 frequent (33%) Frequent (79-30%) HP:0008551
9 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
10 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
11 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
12 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
13 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
14 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
15 ectopic kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000086
16 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
17 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
18 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
19 non-midline cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0100335
20 wide mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000154
21 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
22 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
23 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
24 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
25 abnormality of the pharynx 59 32 occasional (7.5%) Occasional (29-5%) HP:0000600
26 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
27 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
28 tracheoesophageal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0002575
29 hemivertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0002937
30 preauricular skin tag 59 32 hallmark (90%) Very frequent (99-80%) HP:0000384
31 tracheomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002779
32 facial asymmetry 59 32 hallmark (90%) Very frequent (99-80%) HP:0000324
33 epibulbar dermoid 59 32 frequent (33%) Frequent (79-30%) HP:0001140
34 atresia of the external auditory canal 59 32 frequent (33%) Frequent (79-30%) HP:0000413
35 block vertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0003305
36 anophthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000528
37 aplasia/hypoplasia of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0009601
38 abnormality of the middle ear 59 32 frequent (33%) Frequent (79-30%) HP:0000370
39 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
40 abnormality of the inner ear 59 32 frequent (33%) Frequent (79-30%) HP:0000359
41 upper eyelid coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000636
42 pulmonary hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002089
43 vertebral hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008417
44 unilateral external ear deformity 59 32 frequent (33%) Frequent (79-30%) HP:0008605
45 hydrocephalus 32 HP:0000238
46 sensorineural hearing impairment 32 HP:0000407
47 strabismus 32 HP:0000486
48 patent ductus arteriosus 32 HP:0001643
49 coarctation of aorta 32 HP:0001680
50 arnold-chiari malformation 32 HP:0002308

MGI Mouse Phenotypes related to Hemifacial Microsomia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 HOXA2 SATB2 OTX2 SALL1 ALX3 SALL4
2 digestive/alimentary MP:0005381 9.88 OTX2 SALL1 ALX3 SALL4 HOXA2 SATB2
3 embryo MP:0005380 9.85 OTX2 SALL1 ALX3 SALL4 HOXA2 SATB2
4 craniofacial MP:0005382 9.83 SATB2 OTX2 ALX3 SALL4 HOXA2
5 mortality/aging MP:0010768 9.7 MYT1 SATB2 OTX2 SALL1 ALX3 SALL4
6 hearing/vestibular/ear MP:0005377 9.62 OTX2 SALL1 SALL4 HOXA2
7 limbs/digits/tail MP:0005371 9.56 SATB2 SALL1 ALX3 SALL4
8 nervous system MP:0003631 9.43 SATB2 OTX2 SALL1 ALX3 SALL4 HOXA2
9 skeleton MP:0005390 9.1 SATB2 OTX2 SALL1 ALX3 SALL4 HOXA2

Drugs & Therapeutics for Hemifacial Microsomia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
2 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
3 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752 Not Applicable
4 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
5 Accuracy of a CAD/CAM Surgical Template for Mandible Distraction Recruiting NCT03270618 Not Applicable
6 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
7 Comparison Between Internal and External Distractors in Osteogenesis Not yet recruiting NCT03540329 Not Applicable

Search NIH Clinical Center for Hemifacial Microsomia

Cochrane evidence based reviews: goldenhar syndrome

Genetic Tests for Hemifacial Microsomia

Genetic tests related to Hemifacial Microsomia:

# Genetic test Affiliating Genes
1 Goldenhar Syndrome 29

Anatomical Context for Hemifacial Microsomia

MalaCards organs/tissues related to Hemifacial Microsomia:

41
Eye, Kidney, Lung, Skin, Heart, Bone, Tongue

Publications for Hemifacial Microsomia

Articles related to Hemifacial Microsomia:

(show top 50) (show all 280)
# Title Authors Year
1
Whole-exome sequencing for monozygotic twins discordant for hemifacial microsomia. ( 29551253 )
2018
2
Asymmetrically enlarged parietal foramina in a rare case of Goldenhar syndrome with a possible etiopathogenesis. ( 29416828 )
2018
3
Three-dimensional analysis of cranial base morphology in patients with hemifacial microsomia. ( 29292127 )
2018
4
Facial Paralysis in Patients With Hemifacial Microsomia: Frequency, Distribution, and Association With Other OMENS Abnormalities. ( 29771843 )
2018
5
One-Year Relapse of Mandibular Distraction for Hemifacial Microsomia Using Masseteric Botulinum Toxin Type A Injections. ( 29894467 )
2018
6
Reconstruction of the Adult Hemifacial Microsomia Patient with Temporomandibular Joint Total Joint Prosthesis and Orthognathic Surgery. ( 29736288 )
2018
7
Hemifacial microsomia (oculo-auriculo-vertebral spectrum) in an individual from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Italy). ( 29653314 )
2018
8
Temporomandibular Joint Ankylosis After Ramus Construction With Free Fibula Flaps in Children With Hemifacial Microsomia. ( 29852140 )
2018
9
Comprehensive consideration and design with the virtual surgical planning-assisted treatment for hemifacial microsomia in adult patients. ( 29887198 )
2018
10
Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat. ( 29346049 )
2018
11
Simultaneous maxillomandibular distraction osteogenesis in hemifacial microsomia: Report of 7 cases. ( 28706792 )
2017
12
Reconstruction of nongrowing hemifacial microsomia patient with custom-made unilateral temporomandibular joint total joint prosthesis and orthognathic surgery. ( 28316925 )
2017
13
An integrated surgical protocol for adult patients with hemifacial microsomia: Methods and outcome. ( 28783745 )
2017
14
Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia. ( 28319315 )
2017
15
Effects of unilateral vertical mandibular distraction osteogenesis on airway anatomy in children with hemifacial microsomia. ( 29126770 )
2017
16
Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association. ( 28377826 )
2017
17
Early Orthopaedic Treatment of Hemifacial Microsomia. ( 29387494 )
2017
18
Hemifacial Microsomia and Accessory Auricles in an Adolescent Boy. ( 28400648 )
2017
19
Surgical correction of mandibular hypoplasia in hemifacial microsomia: A retrospective study in 39 patients. ( 28457824 )
2017
20
Microsurgical SCIA/SIEA flap for facial contour correction in patient with hemifacial microsomia. ( 28604380 )
2017
21
Auricular Reconstruction in Hemifacial Microsomia with an Expanded Two-Flap Method. ( 28445373 )
2017
22
Hemifacial Microsomia : Clinicoradiological Insight and Report of a Case. ( 28458495 )
2017
23
Implant-Retained Prosthetic Auricular Reconstruction in a Hemifacial Microsomia Individual: A Clinical Report. ( 28085981 )
2017
24
Costochondral Graft in Young Children With Hemifacial Microsomia. ( 27922961 )
2017
25
Hemifacial Microsomia in a Cat. ( 28718994 )
2017
26
Combined Bimaxillary Distraction Osteogenesis Associated with Orthognathic Surgery for Hemifacial Microsomia in Adults. ( 28233131 )
2017
27
Parental Stress in Parents of a Child With Hemifacial Microsomia: The Role of Child Characteristics and Parental Coping Strategies. ( 27632763 )
2016
28
Computer-Assisted Distraction Osteogenesis in the Treatment of Hemifacial Microsomia. ( 27526230 )
2016
29
Application of free serratus anterior fascial flap for reconstruction of ear deformity due to hemifacial microsomia: A report of two cases. ( 27987254 )
2016
30
Simultaneous maxillo-mandibular distraction in early adolescence as a single treatment modality for durable correction of type II unilateral hemifacial microsomia: Follow-up till completion of growth. ( 27499513 )
2016
31
Clinico-Radiologic Perspective of a Case of Hemifacial Microsomia. ( 26894197 )
2016
32
7q21.11 Microdeletion in a Neonate With Goldenhar Syndrome: Case Report and a Literature Review. ( 26068384 )
2016
33
AIRWAY MANAGEMENT WITH DIRECT LARYNGOSCOPY IN A CHILD WITH GOLDENHAR SYNDROME. ( 27276779 )
2016
34
Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate. ( 26775633 )
2016
35
Bimaxillary Orthognathic Approach to Correct Skeletal Facial Asymmetry of Hemifacial Microsomia in Adults. ( 26908014 )
2016
36
Neurotrophic keratopathy secondary to trigeminal nerve aplasia in patient with Goldenhar syndrome. ( 26819096 )
2016
37
A novel step osteotomy for correction of hemifacial microsomia - A case report. ( 27761391 )
2016
38
Relationship Between Mandibular Ramus Height and Masticatory Muscle Function in Patients With Unilateral Hemifacial Microsomia. ( 26752018 )
2016
39
Combined maxillary and mandibular distractionA osteogenesis in patients with hemifacial microsomia. ( 25919102 )
2015
40
Goldenhar Syndrome with Tessier's 7 Cleft: Report of a Case. ( 25838668 )
2015
41
Cranial base deviation in hemifacial microsomia by craniometric analysis. ( 25569421 )
2015
42
Precise positioning of an intraoral distractor using augmented reality in patients with hemifacial microsomia. ( 25465484 )
2015
43
Surgical guide assistant mandibular distraction osteogenesis and sagittal split osteotomy in the treatment of hemifacial microsomia. ( 25699536 )
2015
44
The influence of gender and laterality on the incidence of hemifacial microsomia. ( 25723655 )
2015
45
Nonsurgical Treatment of Hemifacial Microsomia: A Case Report. ( 26734473 )
2015
46
Three-dimensional functional unit analysis of hemifacial microsomia mandible-a preliminary report. ( 26413495 )
2015
47
Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract. ( 26635984 )
2015
48
Hemifacial microsomia and lung hypoplasia. ( 25946776 )
2015
49
A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations. ( 26294998 )
2015
50
Installing an original sleeve for rod unaccessible pain from a distraction device in a hemifacial microsomia patient. ( 26073915 )
2015

Variations for Hemifacial Microsomia

Expression for Hemifacial Microsomia

Search GEO for disease gene expression data for Hemifacial Microsomia.

Pathways for Hemifacial Microsomia

Pathways related to Hemifacial Microsomia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.31 SALL1 SALL4

GO Terms for Hemifacial Microsomia

Cellular components related to Hemifacial Microsomia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.56 ALX3 BRF1 HOXA2 MYT1 OTX2 SALL1
2 heterochromatin GO:0000792 8.62 SALL1 SALL4

Biological processes related to Hemifacial Microsomia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.8 ALX3 BRF1 HOXA2 MYT1 SALL1 SALL4
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.73 HOXA2 SALL1 SALL4 SATB2
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.72 HOXA2 OTX2 SALL1 SALL4 SATB2
4 regulation of transcription, DNA-templated GO:0006355 9.56 ALX3 BRF1 HOXA2 MYT1 OTX2 SALL1
5 neurogenesis GO:0022008 9.49 SALL1 SALL4
6 somatic stem cell population maintenance GO:0035019 9.48 SALL1 SALL4
7 pattern specification process GO:0007389 9.46 ALX3 HOXA2
8 ventricular septum development GO:0003281 9.4 SALL1 SALL4
9 osteoblast development GO:0002076 9.37 HOXA2 SATB2
10 embryonic skeletal system morphogenesis GO:0048704 9.33 ALX3 HOXA2 SATB2
11 multicellular organism development GO:0007275 9.17 ALX3 HOXA2 MYT1 OTX2 SALL1 SALL4

Molecular functions related to Hemifacial Microsomia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.72 HOXA2 MYT1 OTX2 SALL1 SALL4
2 DNA binding GO:0003677 9.7 ALX3 HOXA2 MYT1 OTX2 SALL1 SALL4
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 HOXA2 OTX2 SALL1 SATB2
4 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.5 ALX3 HOXA2 MYT1 OTX2 SALL1 SALL4
5 sequence-specific DNA binding GO:0043565 9.1 ALX3 HOXA2 OTX2 SALL1 SALL4 SATB2

Sources for Hemifacial Microsomia

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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