OCACS
MCID: OCL048
MIFTS: 36
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Oculoauricular Syndrome (OCACS)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Oculoauricular Syndrome:
Characteristics:Orphanet epidemiological data:58
oculoauricular syndrome, schorderet type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Ear diseases
ICD10:
32
33
Orphanet: 58
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KEGG :
36
Oculo-auricular syndrome is a rare developmental recessive condition characterized by ophthalmic anomalies and a particular cleft ear lobule. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas, and rod-cone dystrophy. Mutation in the human Hmx1 ortholog HMX1 (NKX5-3) results in this disease.
MalaCards based summary : Oculoauricular Syndrome, also known as schorderet-munier-franceschetti syndrome, is related to microtia-anotia and ovarian cancer. An important gene associated with Oculoauricular Syndrome is HMX1 (H6 Family Homeobox 1), and among its related pathways/superpathways is Hedgehog signaling pathway (KEGG). Affiliated tissues include eye, and related phenotypes are cataract and nystagmus Disease Ontology : 12 A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. UniProtKB/Swiss-Prot : 73 Oculoauricular syndrome: A syndrome characterized by microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear. Wikipedia : 74 Oculoauricular syndrome is a rare genetic condition affecting the eyes and ears. It is due to mutations... more...
More information from OMIM:
612109
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Human phenotypes related to Oculoauricular Syndrome:31 (show all 11)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:612109MGI Mouse Phenotypes related to Oculoauricular Syndrome:45
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Cochrane evidence based reviews: oculoauricular syndrome |
MalaCards organs/tissues related to Oculoauricular Syndrome:40
Eye
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Articles related to Oculoauricular Syndrome:
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ClinVar genetic disease variations for Oculoauricular Syndrome:6
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Search
GEO
for disease gene expression data for Oculoauricular Syndrome.
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Cellular components related to Oculoauricular Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Oculoauricular Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Oculoauricular Syndrome according to GeneCards Suite gene sharing:
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