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HFM
MCID: HMF006
MIFTS: 55

Hemifacial Microsomia (HFM)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hemifacial Microsomia

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MalaCards integrated aliases for Hemifacial Microsomia:

Name: Hemifacial Microsomia 57 12 73 20 13
Goldenhar Syndrome 57 12 73 20 29 44 15 70
Oculo-Auriculo-Vertebral Spectrum 73 20 58
First and Second Branchial Arch Syndrome 12 20
Oculo-Auriculo-Vertebral Dysplasia 73 20
Oculoauriculovertebral Dysplasia 57 20
Oculoauriculovertebral Spectrum 57 58
Facioauriculovertebral Sequence 57 20
Oav Dysplasia 57 20
Fav Sequence 57 20
Oavs 57 20
Goldenhar Syndrome with Ipsilateral Radial Defect 70
Expanded Spectrum of Hemifacial Microsomia 20
Expanded Spectrum Hemifacial Microsomia 20
Oculoauriculovertebral Spectrum; Oavs 57
Facio-Auriculo-Vertebral Spectrum 12
Facioauriculovertebral Dysplasia 20
Oculoauriculovertebral Syndrome 20
Otomandibular Dysostosis 12
Microsomia, Hemifacial 39
First Arch Syndrome 12
Goldenhar Disease 20
Oav Dysplasia 12
Oav Spectrum 58
Oavd 20
Hfm 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Eye diseases Ear diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Hemifacial Microsomia

About this section
GARD : 20 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 dysostosis. An important gene associated with Hemifacial Microsomia is HFM (Hemifacial Microsomia), and among its related pathways/superpathways are Neural Crest Differentiation and Inhibition of Ribosome Biogenesis by p14(ARF). The drugs Entecavir and Adefovir dipivoxil have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and heart, and related phenotypes are intellectual disability and agenesis of corpus callosum

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® : 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) (Updated 20-May-2021)

Wikipedia : 73 Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose,... more...

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Related Diseases for Hemifacial Microsomia

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

(show top 50) (show all 303)
# Related Disease Score Top Affiliating Genes
1 microtia 31.4 TCOF1 HOXA2 EFTUD2
2 dysostosis 30.5 TCOF1 OTX2 MSX2 EFTUD2
3 branchiootorenal syndrome 30.4 SALL1 OTX2 HOXA2
4 townes-brocks syndrome 30.3 SALL4 SALL1 FGF8
5 charge syndrome 30.2 TCOF1 TBX1 OTX2 FGF8 EFTUD2
6 tooth size 30.1 MSX1 FGF8
7 acrofacial dysostosis 1, nager type 30.0 TCOF1 POLR1D EFTUD2
8 synostosis 30.0 SALL4 MSX2 FREM1 FGF8
9 renal hypodysplasia/aplasia 1 29.9 SALL1 FREM1 FGF8
10 ankyloglossia with or without tooth anomalies 29.8 TBX1 MSX1
11 postaxial acrofacial dysostosis 29.8 TCOF1 POLR1D EFTUD2
12 treacher collins syndrome 1 29.6 TCOF1 POLR1D POLR1C EFTUD2
13 craniosynostosis 29.5 MSX2 MSX1 FREM1 FGF8
14 holoprosencephaly 29.4 OTX2 MSX2 MSX1 FGF8
15 parietal foramina 29.4 MSX2 MSX1 FGF8
16 double outlet right ventricle 29.2 TBX1 MSX2 MSX1 FGF8
17 coloboma of macula 28.3 TCOF1 TBX1 SALL1 POLR1D POLR1C OTX2
18 cleft palate, isolated 28.2 TCOF1 TBX1 POLR1D POLR1C MSX2 MSX1
19 craniofacial microsomia 11.7
20 folate malabsorption, hereditary 11.6
21 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 11.5
22 hemifacial microsomia with radial defects 11.5
23 vacterl association 11.2
24 klippel-feil syndrome 11.2
25 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.0
26 cleft lip 10.8
27 cleft lip/palate 10.7
28 facial paralysis 10.5
29 macrostomia, isolated 10.5
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
31 fryns microphthalmia syndrome 10.4
32 sensorineural hearing loss 10.4
33 ankylosis 10.4
34 cholesteatoma of middle ear 10.3
35 dysphagia 10.3
36 heart septal defect 10.3
37 ear malformation 10.2
38 torticollis 10.2
39 branchiootic syndrome 1 10.2
40 microphthalmia 10.2
41 ventricular septal defect 10.2
42 skin tag 10.2
43 overgrowth syndrome 10.2
44 ivic syndrome 10.2 SALL4 SALL1
45 chromosome 10p duplication 10.2
46 benign teratoma 10.2
47 cystic teratoma 10.2
48 mature teratoma 10.2
49 neurofibromatosis, type i 10.2
50 digeorge syndrome 10.2

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



Diseases related to Hemifacial Microsomia
Sources

Symptoms & Phenotypes for Hemifacial Microsomia

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Human phenotypes related to Hemifacial Microsomia:

31 (show all 41)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 agenesis of corpus callosum 31 HP:0001274
3 hydrocephalus 31 HP:0000238
4 microtia 31 HP:0008551
5 sensorineural hearing impairment 31 HP:0000407
6 strabismus 31 HP:0000486
7 cleft palate 31 HP:0000175
8 micrognathia 31 HP:0000347
9 ectopic kidney 31 HP:0000086
10 coarctation of aorta 31 HP:0001680
11 wide mouth 31 HP:0000154
12 hypoplasia of the maxilla 31 HP:0000327
13 conductive hearing impairment 31 HP:0000405
14 cleft upper lip 31 HP:0000204
15 facial asymmetry 31 HP:0000324
16 anophthalmia 31 HP:0000528
17 microphthalmia 31 HP:0000568
18 tetralogy of fallot 31 HP:0001636
19 patent ductus arteriosus 31 HP:0001643
20 vesicoureteral reflux 31 HP:0000076
21 preauricular skin tag 31 HP:0000384
22 hemivertebrae 31 HP:0002937
23 malar flattening 31 HP:0000272
24 ventricular septal defect 31 HP:0001629
25 blepharophimosis 31 HP:0000581
26 arnold-chiari malformation 31 HP:0002308
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®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
agenesis of corpus callosum
hydrocephalus
arnold-chiari malformation
occipital encephalocele
mental retardation
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

Head And Neck Ears:
microtia
anotia
unilateral external ear deformity
hearing loss, conductive
preauricular tags
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Hemifacial Microsomia:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.27 EFTUD2 FGF8 FREM1 HOXA2 MSX1 MSX2
2 behavior/neurological MP:0005386 10.26 EFTUD2 FGF8 HOXA2 MSX1 MSX2 OTX2
3 embryo MP:0005380 10.26 EFTUD2 FGF8 HOXA2 MSX1 MSX2 OTX2
4 mortality/aging MP:0010768 10.21 EFTUD2 FGF8 FREM1 HOXA2 MSX1 MSX2
5 digestive/alimentary MP:0005381 10.19 FGF8 FREM1 HOXA2 MSX1 MSX2 OTX2
6 craniofacial MP:0005382 10.16 FGF8 FREM1 HOXA2 MSX1 MSX2 OTX2
7 hearing/vestibular/ear MP:0005377 10.09 FGF8 HOXA2 MSX1 MSX2 OTX2 SALL1
8 limbs/digits/tail MP:0005371 10.01 FGF8 FREM1 MSX1 MSX2 SALL1 SALL4
9 muscle MP:0005369 9.87 FGF8 FREM1 HOXA2 MSX1 MSX2 OTX2
10 normal MP:0002873 9.86 FGF8 FREM1 HOXA2 MSX1 MSX2 OTX2
11 respiratory system MP:0005388 9.7 FGF8 FREM1 HOXA2 MSX1 OTX2 TBX1
12 skeleton MP:0005390 9.65 FGF8 FREM1 HOXA2 MSX1 MSX2 OTX2
13 vision/eye MP:0005391 9.28 FGF8 FREM1 MSX1 MSX2 OTX2 POLR1C
Sources

Drugs & Therapeutics for Hemifacial Microsomia

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Entecavir Approved, Investigational Phase 2 142217-69-4 153941
2
Adefovir dipivoxil Approved, Investigational Phase 2 142340-99-6 60871
3
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
4
Telbivudine Approved, Investigational Phase 2 3424-98-4 159269
5
Tenofovir Experimental, Investigational Phase 2 147127-20-6 464205
6
Adefovir Investigational Phase 2 106941-25-7
7 Antiviral Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 A Phase 2, Open-label Study to Evaluate the Safety and Efficacy of Switching to Tenofovir Alafenamide (TAF) From Tenofovir Disoproxil Fumarate (TDF) and/or Other Oral Antiviral Treatment (OAV) in Virologically Suppressed Chronic Hepatitis B Subjects With Renal and/or Hepatic Impairment Completed NCT03180619 Phase 2 TAF
3 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Multi-center Study to Evaluate the Safety, Tolerability and Antiviral Activity of GS-9688 in Virally-Suppressed Adult Subjects With Chronic Hepatitis B Completed NCT03491553 Phase 2 Selgantolimod;Placebo;Hepatitis B virus (HBV) OAV Therapy
4 Potential of Mesenchymal Stem Cell Enriched Adipose Tissue Grafting for Contour Deformities of Face Unknown status NCT02494752
5 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
6 The Effect of Bone Marrow Aspirate Concentrate on Bone Regenerate During Rapid Mandibular Distraction Osteogensis Completed NCT03861650
7 Technical Notes on Novel Technique and Step by Step Construction of Computer Guided for Mandibular Distraction Osteogenesis Completed NCT03869021
8 Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome. Completed NCT04056858
9 Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology Recruiting NCT04351893
10 Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children With Craniofacial Microsomia Active, not recruiting NCT03806361

Search NIH Clinical Center for Hemifacial Microsomia

Cochrane evidence based reviews: goldenhar syndrome

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Genetic Tests for Hemifacial Microsomia

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Genetic tests related to Hemifacial Microsomia:

# Genetic test Affiliating Genes
1 Goldenhar Syndrome 29
Sources

Anatomical Context for Hemifacial Microsomia

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MalaCards organs/tissues related to Hemifacial Microsomia:

40
Eye, Bone, Heart, Kidney, Tongue, Skin, Myeloid
Sources

Publications for Hemifacial Microsomia

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Articles related to Hemifacial Microsomia:

(show top 50) (show all 1194)
# Title Authors PMID Year
1
A novel de novo mutation in MYT1, the unique OAVS gene identified so far. 57 61
28612832 2017
2
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS. 57 61
27358179 2016
3
Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1. 61 57
19213029 2009
4
Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. 61 57
18792983 2008
5
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). 61 57
18553555 2008
6
Goldenhar syndrome associated with growth hormone deficiency. 57 61
18618991 2008
7
Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. 57 61
17297623 2007
8
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. 57 61
17431915 2007
9
A family with autosomal dominant oculo-auriculo-vertebral spectrum. 57 61
17159507 2007
10
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 61 57
16761296 2006
11
Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. 57 61
16407370 2006
12
Clinical manifestations in 17 Greek patients with Goldenhar syndrome. 61 57
17100205 2006
13
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? 57 61
15800906 2005
14
Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement. 57 61
15194950 2004
15
Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome? 57 61
12825068 2003
16
Caruncle abnormalities in the oculo-auriculo-vertebral spectrum. 57 61
12457402 2002
17
Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach. 61 57
12410187 2002
18
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. 61 57
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. 57 61
11478532 2001
20
A family with dominant oculoauriculovertebral spectrum. 57 61
9714437 1998
21
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. 57 61
8669439 1996
22
Transgenic mouse model of hemifacial microsomia: cloning and characterization of insertional mutation region on chromosome 10. 61 57
7531669 1994
23
A case of Goldenhar syndrome associated with growth hormone deficiency. 61 57
8358046 1993
24
Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. 57 61
8494034 1993
25
Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome). 61 57
1442880 1992
26
Hemifacial microsomia. 61 57
2773499 1989
27
Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy. 61 57
3681908 1987
28
Goldenhar complex in discordant monozygotic twins: a case report and review of the literature. 57 61
3314503 1987
29
Genetic aspects of hemifacial microsomia. 57 61
6542550 1984
30
Hemifacial microsomia and variants: pedigree data. 57 61
6881197 1983
31
Cranial defects in the Goldenhar syndrome. 57 61
6859095 1983
32
Genetic aspects of hemifacial microsomia. 57 61
6684097 1983
33
Autosomal dominant Goldenhar syndrome. 57 61
7171780 1982
34
Goldenhar syndrome and hemifacial microsomia: observations on three patients. 61 57
7389743 1980
35
Hemifacial microsomia. 57 61
4998565 1971
36
Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. 57
25118188 2014
37
Expanded spectrum of oculo-auriculo-vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations. 57
21188766 2011
38
Familial oculoauriculovertebral sequence with lymphoma in one sibling. 57
18855923 2008
39
Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome. 57
17786119 2007
40
Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. 57
17506093 2007
41
Oculoauriculovertebral spectrum with 5p15.33-pter deletion. 57
16760734 2006
42
Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS). 57
15103713 2004
43
Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. 57
12494430 2003
44
TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. 57
12210332 2002
45
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. 57
10647898 1999
46
Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism. 57
8818446 1996
47
Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum. 57
7586653 1995
48
Oculoauriculovertebral anomaly: segregation analysis. 57
1415339 1992
49
Discordance of signs in monozygotic twins concordant for the Goldenhar anomaly. 57
3400721 1988
50
Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. 57
3812588 1987
Sources

Variations for Hemifacial Microsomia

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Expression for Hemifacial Microsomia

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Search GEO for disease gene expression data for Hemifacial Microsomia.
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Pathways for Hemifacial Microsomia

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

# Super pathways Score Top Affiliating Genes
1
Neural Crest Differentiation 1
11.34 MSX2 MSX1 FGF8
2
Inhibition of Ribosome Biogenesis by p14(ARF) 63
10.6 POLR1D POLR1C
3
Dopaminergic Neurogenesis 1
10.28 OTX2 MSX1 FGF8
4
Assembly of RNA Polymerase-I Initiation Complex 63
9.96 POLR1D POLR1C
Sources

GO Terms for Hemifacial Microsomia

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase III complex GO:0005666 8.96 POLR1D POLR1C
2 RNA polymerase I complex GO:0005736 8.62 POLR1D POLR1C

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.08 TBX1 SALL4 SALL1 OTX2 MSX2 MSX1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 TBX1 SALL4 SALL1 OTX2 MSX1 HOXA2
3 multicellular organism development GO:0007275 9.8 TBX1 OTX2 MSX2 MSX1 HOXA2 FREM1
4 anterior/posterior pattern specification GO:0009952 9.65 TBX1 MSX1 HOXA2
5 embryonic hindlimb morphogenesis GO:0035116 9.59 MSX1 FGF8
6 motor neuron axon guidance GO:0008045 9.58 HOXA2 FGF8
7 outflow tract septum morphogenesis GO:0003148 9.58 TBX1 FGF8
8 dopaminergic neuron differentiation GO:0071542 9.57 OTX2 FGF8
9 thyroid gland development GO:0030878 9.56 TBX1 FGF8
10 embryonic morphogenesis GO:0048598 9.52 MSX2 MSX1
11 signal transduction involved in regulation of gene expression GO:0023019 9.51 MSX1 FGF8
12 pharyngeal system development GO:0060037 9.49 TBX1 FGF8
13 aorta morphogenesis GO:0035909 9.46 TBX1 FGF8
14 negative regulation of transcription regulatory region DNA binding GO:2000678 9.43 MSX2 MSX1
15 gonad development GO:0008406 9.4 SALL1 FGF8
16 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.37 MSX1 FGF8
17 heart development GO:0007507 9.35 TBX1 SALL4 SALL1 MSX1 FGF8
18 heart morphogenesis GO:0003007 9.33 TBX1 MSX1 FGF8
19 embryonic viscerocranium morphogenesis GO:0048703 9.32 TBX1 HOXA2
20 middle ear morphogenesis GO:0042474 8.8 TBX1 MSX1 HOXA2

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 9.55 TBX1 OTX2 MSX2 MSX1 HOXA2
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 TBX1 SALL4 SALL1 OTX2 MSX2 MSX1
3 DNA binding GO:0003677 9.28 TBX1 SALL4 SALL1 POLR1D POLR1C OTX2
Sources

Sources for Hemifacial Microsomia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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