HFM
MCID: HMF006
MIFTS: 55

Hemifacial Microsomia (HFM)

Categories: Bone diseases, Ear diseases, Fetal diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Hemifacial Microsomia

MalaCards integrated aliases for Hemifacial Microsomia:

Name: Hemifacial Microsomia 56 12 74 52 13
Goldenhar Syndrome 56 12 74 52 29 43 15 71
Oculo-Auriculo-Vertebral Spectrum 74 52 58
First and Second Branchial Arch Syndrome 12 52
Oculo-Auriculo-Vertebral Dysplasia 74 52
Oculoauriculovertebral Dysplasia 56 52
Oculoauriculovertebral Spectrum 56 58
Facioauriculovertebral Sequence 56 52
Oav Dysplasia 56 52
Fav Sequence 56 52
Oavs 56 52
Goldenhar Syndrome with Ipsilateral Radial Defect 71
Expanded Spectrum of Hemifacial Microsomia 52
Expanded Spectrum Hemifacial Microsomia 52
Oculoauriculovertebral Spectrum; Oavs 56
Facio-Auriculo-Vertebral Spectrum 12
Facioauriculovertebral Dysplasia 52
Oculoauriculovertebral Syndrome 52
Otomandibular Dysostosis 12
Microsomia, Hemifacial 39
First Arch Syndrome 12
Goldenhar Disease 52
Oav Dysplasia 12
Oav Spectrum 58
Oavd 52
Hfm 56

Characteristics:

OMIM:

56
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:

31
hemifacial microsomia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Hemifacial Microsomia

NIH Rare Diseases : 52 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 microtia and branchiootorenal syndrome. An important gene associated with Hemifacial Microsomia is HFM (Hemifacial Microsomia), and among its related pathways/superpathways are Neural Crest Differentiation and Dopaminergic Neurogenesis. The drugs Tenofovir and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and kidney, and related phenotypes are intellectual disability and microtia

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.

OMIM : 56 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)

Wikipedia : 74 Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose,... 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 312)
# Related Disease Score Top Affiliating Genes
1 microtia 31.7 TCOF1 HOXA2
2 branchiootorenal syndrome 30.7 SALL1 OTX2 HOXA2
3 townes-brocks syndrome 30.5 SALL4 SALL1 FGF8
4 tooth size 30.4 MSX1 FGF8
5 renal hypodysplasia/aplasia 1 30.0 SALL1 FGFR1 FGF8
6 corpus callosum lipoma 29.8 MSX2 FGFR1 ALX3
7 holoprosencephaly 29.7 OTX2 FGFR1 FGF8 ALX3
8 synostosis 29.6 SALL4 MSX2 FGFR1 FGF8 ALX3
9 charge syndrome 29.4 SALL1 OTX2 MSX1 FGFR1 FGF8 EFTUD2
10 dysostosis 29.4 TCOF1 OTX2 MSX2 FGFR1 FGF8 EFTUD2
11 postaxial acrofacial dysostosis 29.3 TCOF1 POLR1D EFTUD2
12 craniosynostosis 29.3 MSX2 MSX1 FGFR1 FGF8
13 treacher collins syndrome 1 29.2 TCOF1 POLR1D MSX1 EFTUD2 ALX3
14 parietal foramina 29.2 MSX2 MSX1 FGF8 ALX3
15 tooth agenesis 29.1 MSX2 MSX1 FGFR1 FGF8
16 coloboma of macula 27.8 TCOF1 SALL1 POLR1D OTX2 MSX1 FGFR1
17 cleft palate, isolated 27.6 TCOF1 POLR1D MSX2 MSX1 HOXA2 FGFR1
18 hemifacial microsomia with radial defects 12.7
19 craniofacial microsomia 12.5
20 folate malabsorption, hereditary 12.4
21 vacterl association 11.8
22 klippel-feil syndrome 11.8
23 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 11.6
24 microtia-anotia 11.6
25 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.2
26 cleft lip 10.9
27 cleft lip/palate 10.8
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
29 facial paralysis 10.6
30 macrostomia, isolated 10.6
31 fryns microphthalmia syndrome 10.5
32 sensorineural hearing loss 10.5
33 ankylosis 10.5
34 heart septal defect 10.4
35 cholesteatoma of middle ear 10.4
36 dysphagia 10.4
37 ear malformation 10.4
38 torticollis 10.4
39 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
40 branchiootic syndrome 1 10.4
41 ventricular septal defect 10.4
42 overgrowth syndrome 10.4
43 chromosome 10p duplication 10.3
44 scoliosis 10.3
45 atrial heart septal defect 10.3
46 skin tag 10.3
47 neuropathy 10.3
48 chromosomal triplication 10.3
49 sirenomelia 10.3
50 facial cleft 10.3

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



Diseases related to Hemifacial Microsomia

Symptoms & Phenotypes for Hemifacial Microsomia

Human phenotypes related to Hemifacial Microsomia:

31 (show all 41)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 microtia 31 HP:0008551
3 hydrocephalus 31 HP:0000238
4 sensorineural hearing impairment 31 HP:0000407
5 strabismus 31 HP:0000486
6 cleft palate 31 HP:0000175
7 micrognathia 31 HP:0000347
8 ectopic kidney 31 HP:0000086
9 coarctation of aorta 31 HP:0001680
10 wide mouth 31 HP:0000154
11 hypoplasia of the maxilla 31 HP:0000327
12 conductive hearing impairment 31 HP:0000405
13 cleft upper lip 31 HP:0000204
14 facial asymmetry 31 HP:0000324
15 anophthalmia 31 HP:0000528
16 microphthalmia 31 HP:0000568
17 tetralogy of fallot 31 HP:0001636
18 patent ductus arteriosus 31 HP:0001643
19 vesicoureteral reflux 31 HP:0000076
20 preauricular skin tag 31 HP:0000384
21 hemivertebrae 31 HP:0002937
22 malar flattening 31 HP:0000272
23 ventricular septal defect 31 HP:0001629
24 blepharophimosis 31 HP:0000581
25 arnold-chiari malformation 31 HP:0002308
26 agenesis of corpus callosum 31 HP:0001274
27 multicystic kidney dysplasia 31 HP:0000003
28 ureteropelvic junction obstruction 31 HP:0000074
29 atresia of the external auditory canal 31 HP:0000413
30 block vertebrae 31 HP:0003305
31 branchial anomaly 31 HP:0009794
32 pulmonary hypoplasia 31 HP:0002089
33 renal agenesis 31 HP:0000104
34 occipital encephalocele 31 HP:0002085
35 upper eyelid coloboma 31 HP:0000636
36 anotia 31 HP:0009892
37 vertebral hypoplasia 31 HP:0008417
38 hemifacial hypoplasia 31 HP:0011332
39 limbal dermoid 31 HP:0001140
40 hypoplasia of facial musculature 31 HP:0004660
41 unilateral external ear deformity 31 HP:0008605

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
microtia
anotia
unilateral external ear deformity
hearing loss, conductive
preauricular tags
more
Head And Neck Eyes:
strabismus
anophthalmia
microphthalmia
blepharophimosis
epibulbar dermoid
more
Genitourinary Kidneys:
ectopic kidney
renal agenesis
multicystic dysplastic kidney

Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect
aortic coarctation

Genitourinary Ureters:
vesicoureteral reflux
ureteropelvic junction obstruction

Head And Neck Neck:
branchial cleft remnant

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

Head And Neck Face:
facial asymmetry
hypoplasia of facial musculature
maxillary hypoplasia
mandibular hypoplasia
malar hypoplasia
more
Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Spine:
hemivertebrae
block vertebrae
vertebral hypoplasia
vertebral anomalies

Respiratory Lung:
lung hypoplasia

Clinical features from OMIM:

164210

MGI Mouse Phenotypes related to Hemifacial Microsomia:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.33 ALX3 BRF1 FGF8 FGFR1 GALNS HOXA2
2 embryo MP:0005380 10.32 ALX3 BRF1 EFTUD2 FGF8 FGFR1 HOXA2
3 growth/size/body region MP:0005378 10.32 ALX3 BRF1 EFTUD2 FGF8 FGFR1 HOXA2
4 behavior/neurological MP:0005386 10.31 ALX3 EFTUD2 FGF8 FGFR1 HOXA2 MSX1
5 digestive/alimentary MP:0005381 10.22 ALX3 FGF8 FGFR1 HOXA2 MSX1 MSX2
6 cardiovascular system MP:0005385 10.21 FGF8 FGFR1 HOXA2 MSX1 MSX2 OTX2
7 homeostasis/metabolism MP:0005376 10.21 ALX3 BRF1 EFTUD2 FGF8 FGFR1 GALNS
8 mortality/aging MP:0010768 10.21 ALX3 BRF1 EFTUD2 FGF8 FGFR1 HOXA2
9 craniofacial MP:0005382 10.19 ALX3 FGF8 FGFR1 HOXA2 MSX1 MSX2
10 hearing/vestibular/ear MP:0005377 10.16 FGF8 FGFR1 HOXA2 MSX1 MSX2 OTX2
11 endocrine/exocrine gland MP:0005379 10.15 ALX3 BRF1 FGF8 FGFR1 MSX1 MSX2
12 limbs/digits/tail MP:0005371 10.01 ALX3 FGF8 FGFR1 MSX1 MSX2 SALL1
13 nervous system MP:0003631 9.96 ALX3 FGF8 FGFR1 HOXA2 MSX1 MSX2
14 muscle MP:0005369 9.87 FGF8 FGFR1 HOXA2 MSX1 MSX2 OTX2
15 normal MP:0002873 9.76 FGF8 FGFR1 HOXA2 MSX1 MSX2 OTX2
16 skeleton MP:0005390 9.7 ALX3 FGF8 FGFR1 GALNS HOXA2 MSX1
17 vision/eye MP:0005391 9.28 ALX3 FGF8 FGFR1 GALNS MSX1 MSX2

Drugs & Therapeutics for Hemifacial Microsomia

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tenofovir Experimental, Investigational Phase 3 147127-20-6 464205
2 Anti-Infective Agents Phase 3
3 Anti-HIV Agents Phase 3
4 Reverse Transcriptase Inhibitors Phase 3
5 Antiviral Agents Phase 3
6 Anti-Retroviral Agents Phase 3

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 The Use of Tenofovir Disoproxil Fumarate (TDF) in the Management of Patients With Inactive Chronic Hepatitis B (CHB) Infection Enrolling by invitation NCT02600117 Phase 3 Tenofovir disoproxil fumarate
2 Randomized Controlled Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Facial Soft Tissue Augmentation in Patients With Craniofacial Microsomia. Completed NCT01674439 Phase 2
3 Accuracy Evaluation of A CAD/CAM Surgical Template for Mandible Distraction Unknown status NCT03270618
4 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
5 Potential of Mesenchymal Stem Cell Enriched Adipose Tissue Grafting for Contour Deformities of Face Unknown status NCT02494752
6 Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome. Completed NCT04056858
7 Technical Notes on Novel Technique and Step by Step Construction of Computer Guided for Mandibular Distraction Osteogenesis Completed NCT03869021
8 The Effect of Bone Marrow Aspirate Concentrate on Bone Regenerate During Rapid Mandibular Distraction Osteogensis Completed NCT03861650
9 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
10 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
11 Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology Recruiting NCT04351893
12 Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children With Craniofacial Microsomia Active, not recruiting NCT03806361
13 Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry Not yet recruiting NCT03540329

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:

40
Eye, Bone, Kidney, Lung, Skin, Heart, Bone Marrow

Publications for Hemifacial Microsomia

Articles related to Hemifacial Microsomia:

(show top 50) (show all 1138)
# Title Authors PMID Year
1
A novel de novo mutation in MYT1, the unique OAVS gene identified so far. 56 61
28612832 2017
2
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS. 61 56
27358179 2016
3
Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1. 61 56
19213029 2009
4
Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. 61 56
18792983 2008
5
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). 61 56
18553555 2008
6
Goldenhar syndrome associated with growth hormone deficiency. 56 61
18618991 2008
7
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. 56 61
17431915 2007
8
Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. 61 56
17297623 2007
9
A family with autosomal dominant oculo-auriculo-vertebral spectrum. 56 61
17159507 2007
10
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 61 56
16761296 2006
11
Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. 56 61
16407370 2006
12
Clinical manifestations in 17 Greek patients with Goldenhar syndrome. 56 61
17100205 2006
13
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? 56 61
15800906 2005
14
Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement. 56 61
15194950 2004
15
Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome? 56 61
12825068 2003
16
Caruncle abnormalities in the oculo-auriculo-vertebral spectrum. 61 56
12457402 2002
17
Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach. 56 61
12410187 2002
18
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. 56 61
11810276 2001
19
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. 61 56
11478532 2001
20
A family with dominant oculoauriculovertebral spectrum. 56 61
9714437 1998
21
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. 61 56
8669439 1996
22
Transgenic mouse model of hemifacial microsomia: cloning and characterization of insertional mutation region on chromosome 10. 61 56
7531669 1994
23
A case of Goldenhar syndrome associated with growth hormone deficiency. 56 61
8358046 1993
24
Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. 61 56
8494034 1993
25
Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome). 61 56
1442880 1992
26
Hemifacial microsomia. 56 61
2773499 1989
27
Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy. 61 56
3681908 1987
28
Goldenhar complex in discordant monozygotic twins: a case report and review of the literature. 56 61
3314503 1987
29
Genetic aspects of hemifacial microsomia. 56 61
6542550 1984
30
Hemifacial microsomia and variants: pedigree data. 56 61
6881197 1983
31
Cranial defects in the Goldenhar syndrome. 61 56
6859095 1983
32
Genetic aspects of hemifacial microsomia. 56 61
6684097 1983
33
Autosomal dominant Goldenhar syndrome. 56 61
7171780 1982
34
Goldenhar syndrome and hemifacial microsomia: observations on three patients. 61 56
7389743 1980
35
Hemifacial microsomia. 56 61
4998565 1971
36
Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. 56
25118188 2014
37
Expanded spectrum of oculo-auriculo-vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations. 56
21188766 2011
38
Familial oculoauriculovertebral sequence with lymphoma in one sibling. 56
18855923 2008
39
Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome. 56
17786119 2007
40
Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. 56
17506093 2007
41
Oculoauriculovertebral spectrum with 5p15.33-pter deletion. 56
16760734 2006
42
Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS). 56
15103713 2004
43
Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. 56
12494430 2003
44
TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. 56
12210332 2002
45
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. 56
10647898 1999
46
Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism. 56
8818446 1996
47
Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum. 56
7586653 1995
48
Oculoauriculovertebral anomaly: segregation analysis. 56
1415339 1992
49
Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly. 56
3400721 1988
50
Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. 56
3812588 1987

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 10.93 MSX2 MSX1 FGFR1 FGF8
2 10.61 OTX2 MSX1 FGF8

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 9.44 TCOF1 SALL4 SALL1 RPS6KB2 POLR1D OTX2

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.11 SALL4 SALL1 OTX2 MSX2 MSX1 HOXA2
2 multicellular organism development GO:0007275 10.09 OTX2 MSX2 MSX1 HOXA2 FGFR1 FGF8
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.04 SALL4 SALL1 MSX2 MSX1 HOXA2 FGFR1
4 heart development GO:0007507 9.88 SALL4 SALL1 MSX1 FGF8
5 anterior/posterior pattern specification GO:0009952 9.8 MSX2 MSX1 HOXA2
6 embryonic digit morphogenesis GO:0042733 9.71 SALL1 MSX2 MSX1
7 odontogenesis GO:0042476 9.67 MSX2 MSX1 FGF8
8 midbrain development GO:0030901 9.65 OTX2 MSX1 FGFR1
9 dopaminergic neuron differentiation GO:0071542 9.64 OTX2 FGF8
10 embryonic morphogenesis GO:0048598 9.63 MSX2 MSX1
11 osteoblast development GO:0002076 9.63 MSX2 HOXA2
12 negative regulation of transcription regulatory region DNA binding GO:2000678 9.62 MSX2 MSX1
13 generation of neurons GO:0048699 9.61 FGFR1 FGF8
14 gonad development GO:0008406 9.61 SALL1 FGF8
15 embryonic forelimb morphogenesis GO:0035115 9.61 MSX2 MSX1 ALX3
16 branching involved in salivary gland morphogenesis GO:0060445 9.6 FGFR1 FGF8
17 organ induction GO:0001759 9.59 FGFR1 FGF8
18 mammary gland epithelium development GO:0061180 9.58 MSX2 MSX1
19 outer ear morphogenesis GO:0042473 9.56 SALL1 FGFR1
20 BMP signaling pathway involved in heart development GO:0061312 9.52 MSX2 MSX1
21 middle ear morphogenesis GO:0042474 9.5 MSX1 HOXA2 FGFR1
22 embryonic nail plate morphogenesis GO:0035880 9.46 MSX2 MSX1
23 signal transduction involved in regulation of gene expression GO:0023019 9.43 MSX2 MSX1 FGF8
24 positive regulation of mesenchymal cell apoptotic process GO:2001055 9.4 MSX2 MSX1
25 activation of meiosis GO:0090427 9.37 MSX2 MSX1
26 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.33 MSX2 MSX1 FGF8
27 embryonic limb morphogenesis GO:0030326 9.26 SALL4 MSX2 MSX1 FGFR1
28 embryonic hindlimb morphogenesis GO:0035116 8.92 MSX2 MSX1 FGF8 ALX3

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.56 SALL4 SALL1 POLR1D OTX2 MSX2 MSX1
2 sequence-specific DNA binding GO:0043565 9.55 OTX2 MSX2 MSX1 HOXA2 ALX3
3 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 8.92 SALL1 MSX2 MSX1 HOXA2

Sources for Hemifacial Microsomia

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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