OAVS
MCID: GLD001
MIFTS: 62

Goldenhar Syndrome (OAVS) malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories
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Summaries for Goldenhar Syndrome

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NIH Rare Diseases:42 Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. affected individuals commonly have 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 facial structure, heart, lungs, kidneys, and central nervous system. the underlying cause of the condition remains unknown. last updated: 11/9/2010

MalaCards based summary: Goldenhar Syndrome, also known as hemifacial microsomia, is related to microtia and renal agenesis, and has symptoms including facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy, hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia and hypoplastic mandibula/partial absence of the mandibula. An important gene associated with Goldenhar Syndrome is SALL1 (spalt-like transcription factor 1). The compound Water have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and lung, and related mouse phenotypes are hearing/vestibular/ear and skeleton.

Disease Ontology:8 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:65 Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome) is a rare congenital defect... more...

Description from OMIM:46 164210

Aliases & Classifications for Goldenhar Syndrome

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 62UMLS, 20GeneTests, 9diseasecard, 46OMIM, 22GTR, 57SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Goldenhar Syndrome, Aliases & Descriptions:

Name: Goldenhar Syndrome 8 42 10 48 62
Hemifacial Microsomia 8 9 42 20 46 48
Otomandibular Dysostosis 8 20 48 62
First and Second Branchial Arch Syndrome 8 42 20
Goldenhar Disease 42 20 22
Facio-Auriculo-Vertebral Spectrum 8 62
Facioauriculovertebral Dysplasia 48 62
Oculoauriculovertebral Dysplasia 48 62
Facioauriculovertebral Sequence 42 62
Oculoauriculovertebral Spectrum 48 62
Oculoauriculovertebral Syndrome 48 62
 
Craniofacial Microsomia 42 62
Otomandibular Syndrome 48 62
First Arch Syndrome 8 62
Oavs 48 62
Expanded Spectrum of Hemifacial Microsomia 48
First Branchial Arch Syndrome 48
Fetal Growth Retardation 62
Laterofacial Microsomia 48
Oav Dysplasia 8
Oav Dysplasia 48
Fav Sequence 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
goldenhar syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology8 DOID:2907
OMIM46 164210
NCIt39 C84740
MESH via Orphanet35 D006053
ICD10 via Orphanet26 Q87.0, Q75.8
UMLS via Orphanet63 C0265240, C0432130

Related Diseases for Goldenhar Syndrome

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Graphical network of the top 20 diseases related to Goldenhar Syndrome:



Diseases related to goldenhar syndrome

Symptoms for Goldenhar Syndrome

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Clinical features from OMIM:

164210

Symptoms:

48 (show all 44)
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • hypoplastic mandibula/partial absence of the mandibula
  • preauricular/branchial tags/appendages
  • hearing loss/hypoacusia/deafness
  • tags on cheeks
  • micrognathia/retrognathia/micrognathism/retrognathism
  • conjunctival tumor/epibulbar dermoid
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • external auditory canal atresia/stenosis/agenesis
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • abnormal vertebral size/shape
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • visual loss/blindness/amblyopia
  • coloboma of the eyelid
  • macrostomia/big mouth
  • anomalies of the ribs
  • scoliosis
  • vertebral segmentation anomaly/hemivertebrae
  • thumb hypoplasia/aplasia/absence
  • anomaly of the pharynx/pharyngeal anomaly
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • laryngomalacia
  • tracheomalacia/tracheobronchomalacia
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • tetralogy of fallot/trilogy of fallot
  • ventricular septal defect/interventricular communication
  • agenesis/hypoplasia/aplasia of kidneys
  • ectopic/horseshoe/fused kidneys
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • corpus callosum/septum pellucidum total/partial agenesis
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autism/autistic disoders
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism

HPO human phenotypes related to Goldenhar Syndrome:

(show all 79)
id Description Frequency HPO Source Accession
1 facial asymmetry hallmark (90%) HP:0000324
2 micrognathia hallmark (90%) HP:0000347
3 hearing impairment hallmark (90%) HP:0000365
4 preauricular skin tag hallmark (90%) HP:0000384
5 cleft palate typical (50%) HP:0000175
6 micrognathia typical (50%) HP:0000347
7 abnormality of the inner ear typical (50%) HP:0000359
8 low-set, posteriorly rotated ears typical (50%) HP:0000368
9 preauricular skin tag typical (50%) HP:0000384
10 atresia of the external auditory canal typical (50%) HP:0000413
11 epibulbar dermoid typical (50%) HP:0001140
12 neurological speech impairment typical (50%) HP:0002167
13 abnormal form of the vertebral bodies typical (50%) HP:0003312
14 non-midline cleft lip typical (50%) HP:0100335
15 wide mouth occasional (7.5%) HP:0000154
16 visual impairment occasional (7.5%) HP:0000505
17 abnormality of the pharynx occasional (7.5%) HP:0000600
18 cleft eyelid occasional (7.5%) HP:0000625
19 autism occasional (7.5%) HP:0000717
20 abnormality of the ribs occasional (7.5%) HP:0000772
21 muscular hypotonia occasional (7.5%) HP:0001252
22 laryngomalacia occasional (7.5%) HP:0001601
23 ventricular septal defect occasional (7.5%) HP:0001629
24 tetralogy of fallot occasional (7.5%) HP:0001636
25 ventriculomegaly occasional (7.5%) HP:0002119
26 cerebral cortical atrophy occasional (7.5%) HP:0002120
27 tracheoesophageal fistula occasional (7.5%) HP:0002575
28 scoliosis occasional (7.5%) HP:0002650
29 tracheomalacia occasional (7.5%) HP:0002779
30 vertebral segmentation defect occasional (7.5%) HP:0003422
31 short stature occasional (7.5%) HP:0004322
32 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
33 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
34 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
35 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
36 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
37 abnormal localization of kidney occasional (7.5%) HP:0100542
38 cognitive impairment occasional (7.5%) HP:0100543
39 multicystic kidney dysplasia HP:0000003
40 autosomal dominant inheritance HP:0000006
41 ureteropelvic junction obstruction HP:0000074
42 vesicoureteral reflux HP:0000076
43 ectopic kidney HP:0000086
44 renal agenesis HP:0000104
45 wide mouth HP:0000154
46 cleft palate HP:0000175
47 cleft upper lip HP:0000204
48 hydrocephalus HP:0000238
49 malar flattening HP:0000272
50 facial asymmetry HP:0000324
51 hypoplasia of the maxilla HP:0000327
52 micrognathia HP:0000347
53 preauricular skin tag HP:0000384
54 conductive hearing impairment HP:0000405
55 sensorineural hearing impairment HP:0000407
56 atresia of the external auditory canal HP:0000413
57 strabismus HP:0000486
58 anophthalmia HP:0000528
59 microphthalmos HP:0000568
60 blepharophimosis HP:0000581
61 upper eyelid coloboma HP:0000636
62 epibulbar dermoid HP:0001140
63 intellectual disability HP:0001249
64 agenesis of corpus callosum HP:0001274
65 ventricular septal defect HP:0001629
66 tetralogy of fallot HP:0001636
67 patent ductus arteriosus HP:0001643
68 coarctation of aorta HP:0001680
69 occipital encephalocele HP:0002085
70 pulmonary hypoplasia HP:0002089
71 arnold-chiari malformation HP:0002308
72 hemivertebrae HP:0002937
73 block vertebrae HP:0003305
74 hypoplasia of facial musculature HP:0004660
75 vertebral hypoplasia HP:0008417
76 microtia HP:0008551
77 unilateral external ear deformity HP:0008605
78 branchial anomaly HP:0009794
79 anotia HP:0009892

Drugs & Therapeutics for Goldenhar Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Goldenhar Syndrome

Genetic Tests for Goldenhar Syndrome

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Genetic tests related to Goldenhar Syndrome:

id Genetic test Affiliating Genes
1 Goldenhar Syndrome20 22
2 First and Second Branchial Arch Syndrome20
3 Otomandibular Dysostosis20
4 Hemifacial Microsomia20

Anatomical Context for Goldenhar Syndrome

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MalaCards organs/tissues related to Goldenhar Syndrome:

32
Kidney, Eye, Lung, Heart, Skin, Bone, Myeloid, Pons, Tongue

Animal Models for Goldenhar Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Goldenhar Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0TCOF1, SALL1, EYA1
2MP:00053908.7NCOA1, TCOF1, SALL1, EYA1
3MP:00053808.6EYA1, SALL1, TCOF1, NCOA1
4MP:00053818.5GPX7, EYA1, SALL1, TCOF1
5MP:00053678.4NCOA1, SALL1, EYA1, GPX7
6MP:00107687.9EYA1, SALL1, TCOF1, COX6A1, GPX7

Publications for Goldenhar Syndrome

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Articles related to Goldenhar Syndrome:

(show top 50)    (show all 156)
idTitleAuthorsYear
1
Goldenhar syndrome - a case report. (25178617)
2014
2
Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment. (24504787)
2014
3
Bladder hamartoma: a unique cause of urinary retention in a child with Goldenhar syndrome. (23354199)
2013
4
Goldenhar syndrome and medulloblastoma: A coincidental association? The first case report. (23953647)
2013
5
A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome-OMIM%164210. (24024059)
2013
6
Goldenhar syndrome: a report of 3 cases. (23723509)
2013
7
Successful tracheal intubation using fiberoptic bronchoscope via an I-gela8c supraglottic airway in a pediatric patient with Goldenhar syndrome -A case report-. (23904941)
2013
8
Dorsal radiocarpal dislocation in a patient with Goldenhar syndrome: case report. (24426941)
2013
9
Axillary block as the sole anesthetic for peripherally inserted central catheter placement in an infant with goldenhar syndrome. (24371529)
2013
10
First description of unilateral lung agenesis and anomalous pulmonary venous connection in a newborn with Goldenhar syndrome. (22309948)
2012
11
Goldenhar syndrome in association with Duane syndrome. (23279771)
2012
12
Goldenhar syndrome: a new case expanding the phenotype by costal agenesis and pulmonary hypoplasia. (23047519)
2012
13
Goldenhar syndrome phenotypes and 22q11 deletion. (21271674)
2011
14
Successful airway management in a patient with Goldenhar syndrome using preoperative three-dimensional computed tomography. (21826818)
2011
15
Pulmonary hypoplasia in a newborn with Goldenhar syndrome. (20006771)
2010
16
Infectious keratitis in a newborn with goldenhar syndrome. (20128554)
2010
17
Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome. (20571379)
2010
18
Goldenhar syndrome associated with prenatal maternal Fluoxetine ingestion: Cause or coincidence? (20641101)
2010
19
Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literature. (19783022)
2010
20
A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome? (18553512)
2008
21
Goldenhar syndrome with duodenal atresia: a new finding. (18388789)
2008
22
Radiological evidence of Goldenhar syndrome in a paleopathological case from a South German ossuary. (18996519)
2008
23
A review of physical, behavioral, and oral characteristics associated with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndrome. (18683396)
2008
24
Atypical goldenhar syndrome: a case report. (17315807)
2006
25
Goldenhar syndrome (oculoauriculovertebral dysplasia): report of one case. (17078468)
2006
26
Inner ear abnormalities in patients with Goldenhar syndrome. (15891641)
2005
27
Severe abnormalities of the pons in two infants with goldenhar syndrome. (15328563)
2004
28
Three-dimensional diagnosis of Goldenhar syndrome. (15543541)
2004
29
Goldenhar syndrome and neuroblastoma: a chance association? (14632345)
2003
30
Goldenhar syndrome and hereditary tyrosinemia type 1. (12518207)
2002
31
Letter to the editor: acute myeloid leukemia in a child with Goldenhar syndrome. (11984812)
2002
32
A theory on the embryogenesis of oculo-auriculo-vertebral (Goldenhar) syndrome. (11314495)
2000
33
Goldenhar syndrome associated with various cardiovascular malformations. (9741741)
1998
34
Goldenhar syndrome among infants born in military hospitals to Gulf War veterans. (9408975)
1997
35
Rare associations with Goldenhar syndrome. (7883328)
1994
36
Urologic manifestations of Goldenhar syndrome. (8284889)
1994
37
A case of Goldenhar syndrome associated with growth hormone deficiency. (8358046)
1993
38
Goldenhar syndrome with tetralogy of Fallot. (8314279)
1993
39
Goldenhar syndrome and autistic behaviour. (1426690)
1992
40
Laryngeal manifestations of Goldenhar syndrome. (1285565)
1992
41
Orthopaedic manifestations of Goldenhar syndrome. (3056973)
1988
42
IVF and Goldenhar syndrome. (3681913)
1987
43
Congenital absence of the portal vein in oculoauriculovertebral dysplasia (Goldenhar syndrome). (3529022)
1986
44
Goldenhar syndrome (oculo-auriculo-vertebral dysplasia) in new born. (7343493)
1981
45
Goldenhar syndrome and airway management. (685897)
1978
46
Associated malformations of the eye and the ear. The Goldenhar syndrome. (740353)
1978
47
Goldenhar syndrome. Associated with submandibular gland hyperplasia and hemihypoplasia of the mobile tongue. (1267727)
1976
48
A case of Goldenhar syndrome associated with an inguinal hernia and extensive renal, ureteric, and bladder abnormalities. (1072809)
1976
49
Goldenhar syndrome. (4789118)
1973
50
Coloboma of the iris and choroid and retinal detachment in oculo-auricular dysplasia (Goldenhar syndrome). (5076735)
1972

Variations for Goldenhar Syndrome

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Clinvar genetic disease variations for Goldenhar Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1SALL1NM_002968.2(SALL1): c.1256T> A (p.Leu419Ter)single nucleotide variantPathogenicrs137853084GRCh37Chr 16, 51174877: 51174877

Expression for genes affiliated with Goldenhar Syndrome

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Expression patterns in normal tissues for genes affiliated with Goldenhar Syndrome

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Pathways for genes affiliated with Goldenhar Syndrome

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Compounds for genes affiliated with Goldenhar Syndrome

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Compounds related to Goldenhar Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Water248.7COX6A1, EYA1, GPX7

GO Terms for genes affiliated with Goldenhar Syndrome

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Biological processes related to Goldenhar Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:0424739.7SALL1, EYA1
2branching involved in ureteric bud morphogenesisGO:0016589.6SALL1, EYA1
3positive regulation of neuron differentiationGO:0456669.3NCOA1, SALL1
4positive regulation of transcription from RNA polymerase II promoterGO:0459449.2NCOA1, SALL1, EYA1

Products for genes affiliated with Goldenhar Syndrome

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Sources for Goldenhar Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet