MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Eye Abnormalities (D005124)
..Starting node
..expand
Oculoauricular Syndrome (C567416)

       Child Nodes:



 Sister Nodes: 
..expandAblepharon macrostomia syndrome (C535557)
..expandAniridia (D015783) Child10
..expandAnkyloblepharon filiforme adnatum (C536373)
..expandAnophthalmos (D000853) Child8
..expandAnterior segment mesenchymal dysgenesis (C537775)
..expandAsymmetric Short Stature Syndrome (C566248)
..expandAxenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandAxenfeld-Rieger syndrome (C535679) Child3
..expandBASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
..expandBlepharophimosis (D016569) Child17
..expandBlue diaper syndrome (C536239)
..expandBrachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..expandBrittle cornea syndrome 1 (C536192)
..expandChemke Oliver Mallek syndrome (C535922)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandCODAS syndrome (C536434)
..expandCole Carpenter syndrome (C535963)
..expandColoboma (D003103) Child43
..expandCraniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
..expandCryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
..expandDESANTO-SHINAWI SYNDROME (OMIM:616708)
..expandDwarfism stiff joint ocular abnormalities (C535724)
..expandEctopia Lentis (D004479) Child13
..expandFACES syndrome (C536384)
..expandFoveal Hypoplasia and Anterior Segment Dysgenesis (C563774)
..expandFraser Syndrome (D058497)
..expandFronto-facio-nasal dysplasia (C538063)
..expandFrontoocular Syndrome (C565340)
..expandGoniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
..expandHay-Wells syndrome (C535847)
..expandHydrophthalmos (D006871)
..expandIridogoniodysgenesis and skeletal anomalies (C535534)
..expandIridogoniodysgenesis type1 (C535535)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandJejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..expandJoubert syndrome 1 (C536293)
..expandJoubert syndrome 2 (C536294)
..expandJoubert Syndrome 9 (C567364)
..expandKapur Toriello syndrome (C537008)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandMacrophthalmia, Colobomatous, with Microcornea (C566533)
..expandMaxillofacial Dysostosis (C563599)
..expandMesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..expandMicrocornea, glaucoma, and absent frontal sinuses (C537552)
..expandMicrophthalmos (D008850) Child57
..expandMOMES Syndrome (C564660)
..expandNephrotic syndrome ocular anomalies (C536403)
..expandNephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
..expandNEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
..expandOculoauricular Syndrome (C567416)
..expandOculoauriculofrontonasal syndrome (C537865)
..expandOculocerebrocutaneous syndrome (C538088)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculomaxillofacial dysostosis (C537736)
..expandOculopalatocerebral Syndrome (C564935)
..expandOculopalatoskeletal syndrome (C537738)
..expandOculorenocerebellar syndrome (C537739)
..expandPena Shokeir syndrome Type 2 (C536646)
..expandPersistent Hyperplastic Primary Vitreous (D054514)
..expandPersistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..expandPeters anomaly (C537884)
..expandPHACE association (C537892)
..expandPierson syndrome (C537185)
..expandPopliteal Pterygium Syndrome (C562509)
..expandPopliteal Pterygium Syndrome, Lethal Type (C564874)
..expandPrepapillary Vascular Loops (C563287)
..expandPupil, Egg-Shaped (C566731)
..expandPupillary Membrane, Persistence Of (C562700)
..expandRetinal Dysplasia (D015792) Child2
..expandRieger syndrome 2 (C535680)
..expandRozin Hertz Goodman syndrome (C535876)
..expandSchmid-Fraccaro syndrome (C535918)
..expandTorsion dystonia with onset in infancy (C536969)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9034
Name:Oculoauricular Syndrome
Definition:
Alternative IDs:DO:DOID:0060482|OMIM:612109
ParentIDs:MESH:D005124
TreeNumbers:C11.250/C567416 |C16.131.384/C567416
Synonyms:MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT, OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONE DYSTROPHY, AND ANOMALIES OF THE EXTERNAL EAR |OCACS |SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME
Slim Mappings:Congenital abnormality|Eye disease
Reference: MedGen: C567416
MeSH: C567416
OMIM: 612109;
MSeqDR LSDB:  
Genes: HMX1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007700Anterior segment dysgenesis
3 HP:0000518Cataract
NAMDC:  Cataracts
4 HP:0000589Coloboma
5 HP:0007906Increased intraocular pressure
6 HP:0001104Macular hypoplasia
7 HP:0000482Microcornea
8 HP:0012376Microphakia
9 HP:0000568Microphthalmia
10 HP:0000639Nystagmus
11 HP:0000510Rod-cone dystrophy
12 HP:0000647Sclerocornea
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_018942.3(HMX1):c.879A>G (p.Ala293=)3166HMX1Benignrs13303225RCV000828589|RCV001702839; NMedGen:CN517202|MONDO:MONDO:0012802,MedGen:C2677500,OMIM:612109, Orphanet:157962488695878869587TC4:g.8869587T>C-
NM_018942.3(HMX1):c.650A>C (p.Gln217Pro)3166HMX1Pathogenicrs876657398RCV000172907; NMONDO:MONDO:0012802,MedGen:C2677500,OMIM:612109, Orphanet:157962488698168869816TGNC_000004.11:g.8869816T>GClinGen:CA10575718,OMIM:142992.0002C2677500 612109 Oculoauricular syndrome;
MSeqDR Portal