OAVS
MCID: GLD001
MIFTS: 61

Goldenhar Syndrome (OAVS) malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories

Summaries for Goldenhar Syndrome

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Goldenhar Syndrome, also known as hemifacial microsomia, is related to renal agenesis and townes-brocks syndrome, and has symptoms including facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy, ventricular septal defect/interventricular communication and anomaly of the pharynx/pharyngeal anomaly. An important gene associated with Goldenhar Syndrome is HFM (Hemifacial microsomia). 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:9 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:66 Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome) is a rare congenital defect... more...

Description from OMIM:48 164210

Aliases & Classifications for Goldenhar Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
goldenhar syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

goldenhar syndrome 9 44 11 50 63
hemifacial microsomia 9 10 44 21 48 50
first and second branchial arch syndrome 9 44 21
otomandibular dysostosis 9 21 50
goldenhar disease 44 21 23
craniofacial microsomia 44 50
facio-auriculo-vertebral spectrum 9
facioauriculovertebral dysplasia 50
oculoauriculovertebral dysplasia 50
oculoauriculovertebral syndrome 50
oculoauriculovertebral spectrum 50
facioauriculovertebral sequence 44
first branchial arch syndrome 50
fetal growth retardation 63
laterofacial microsomia 50
otomandibular syndrome 50
first arch syndrome 9
oav dysplasia 9
oav dysplasia 50
fav sequence 44
oavs 50


External Ids:

Disease Ontology9 DOID:2907
OMIM48 164210
NCIt41 C84740
MESH via Orphanet37 D006053
ICD10 via Orphanet27 Q87.0, Q75.8
SNOMED-CT via Orphanet60 15557005, 205418005, 254026007 367462009, 254025006, more
UMLS via Orphanet64 C0265240, C0432130

Related Diseases for Goldenhar Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Clinical features from OMIM:

164210

Symptoms:

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

Drugs & Therapeutics for Goldenhar Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Goldenhar Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Goldenhar Syndrome:

id Genetic test Affiliating Genes
1 Goldenhar Syndrome21 23
2 First and Second Branchial Arch Syndrome21
3 Otomandibular Dysostosis21
4 Hemifacial Microsomia21

Anatomical Context for Goldenhar Syndrome

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34MalaCards
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MalaCards organs/tissues related to Goldenhar Syndrome:

34
Kidney, Eye, Lung, Heart, Skin, Bone, Tongue, Pons, Myeloid

Animal Models for Goldenhar Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Goldenhar Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9TCOF1, EYA1, SALL1
2MP:00053908.7NCOA1, TCOF1, SALL1, EYA1
3MP:00053808.6EYA1, SALL1, TCOF1, NCOA1
4MP:00053818.5TCOF1, GPX7, EYA1, SALL1
5MP:00053678.4GPX7, EYA1, SALL1, NCOA1
6MP:00107687.9TCOF1, SALL1, EYA1, GPX7, COX6A1

Publications for Goldenhar Syndrome

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53PubMed
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Articles related to Goldenhar Syndrome:

(show top 50)    (show all 148)
idTitleAuthorsYear
1
Bladder hamartoma: a unique cause of urinary retention in a child with Goldenhar syndrome. (23354199)
2013
2
Goldenhar syndrome and medulloblastoma: A coincidental association? The first case report. (23953647)
2013
3
A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome-OMIM%164210. (24024059)
2013
4
Goldenhar syndrome: a report of 3 cases. (23723509)
2013
5
Successful tracheal intubation using fiberoptic bronchoscope via an I-gela8c supraglottic airway in a pediatric patient with Goldenhar syndrome -A case report-. (23904941)
2013
6
Dorsal radiocarpal dislocation in a patient with Goldenhar syndrome: case report. (24426941)
2013
7
Axillary block as the sole anesthetic for peripherally inserted central catheter placement in an infant with goldenhar syndrome. (24371529)
2013
8
An unusual association of Goldenhar syndrome. (23053767)
2013
9
Goldenhar syndrome in association with Duane syndrome. (23279771)
2012
10
Goldenhar syndrome: a new case expanding the phenotype by costal agenesis and pulmonary hypoplasia. (23047519)
2012
11
Case report: airway and concurrent hemodynamic management in a neonate with oculo-auriculo-vertebral (Goldenhar) syndrome, severe cervical scoliosis, interrupted aortic arch, multiple ventricular septal defects, and an unstable cervical spine. (22834469)
2012
12
Goldenhar syndrome phenotypes and 22q11 deletion. (21271674)
2011
13
Successful airway management in a patient with Goldenhar syndrome using preoperative three-dimensional computed tomography. (21826818)
2011
14
Pulmonary hypoplasia in a newborn with Goldenhar syndrome. (20006771)
2010
15
Infectious keratitis in a newborn with goldenhar syndrome. (20128554)
2010
16
Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome. (20571379)
2010
17
Goldenhar syndrome associated with prenatal maternal Fluoxetine ingestion: Cause or coincidence? (20641101)
2010
18
Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literature. (19783022)
2010
19
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
20
Goldenhar syndrome with duodenal atresia: a new finding. (18388789)
2008
21
Radiological evidence of Goldenhar syndrome in a paleopathological case from a South German ossuary. (18996519)
2008
22
A review of physical, behavioral, and oral characteristics associated with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndrome. (18683396)
2008
23
Atypical goldenhar syndrome: a case report. (17315807)
2006
24
Goldenhar syndrome (oculoauriculovertebral dysplasia): report of one case. (17078468)
2006
25
Goldenhar syndrome with various clinical manifestations. (16986988)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Goldenhar Syndrome:

1
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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25HMDB
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Compounds related to Goldenhar Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Water258.7COX6A1, EYA1, GPX7

GO Terms for genes affiliated with Goldenhar Syndrome

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17Gene Ontology
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Biological processes related to Goldenhar Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:0424739.6SALL1, EYA1
2branching involved in ureteric bud morphogenesisGO:0016589.5SALL1, EYA1
3positive regulation of neuron differentiationGO:0456669.3NCOA1, SALL1
4positive regulation of transcription from RNA polymerase II promoterGO:0459449.1NCOA1, SALL1, EYA1

Products for genes affiliated with Goldenhar Syndrome

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Sources for Goldenhar Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet