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OCACS
MCID: OCL048
MIFTS: 36

Oculoauricular Syndrome (OCACS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Oculoauricular Syndrome

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MalaCards integrated aliases for Oculoauricular Syndrome:

Name: Oculoauricular Syndrome 57 12 72 29 13 6 44 15 70
Schorderet-Munier-Franceschetti Syndrome 57 72
Oculo-Auricular Syndrome 36 39
Ocacs 57 72
Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, and Anomalies of the External Ear 57
Oculoauricular Syndrome, Schorderet Type 58

Characteristics:

Orphanet epidemiological data:

58
oculoauricular syndrome, schorderet type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
oculoauricular syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060482
OMIM® 57 612109
KEGG 36 H01012
ICD10 32 Q87.8
ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA157962
MedGen 41 C2677500
UMLS 70 C2677500
Sources

Summaries for Oculoauricular Syndrome

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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 entropion. 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 nystagmus and cataract

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 : 72 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 : 73 Oculoauricular syndrome is a rare genetic condition affecting the eyes and ears. It is due to mutations... more...

More information from OMIM: 612109
Sources

Related Diseases for Oculoauricular Syndrome

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Diseases related to Oculoauricular Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 microtia-anotia 11.0
2 entropion 10.2 HMX3 HMX1
3 retinitis pigmentosa 10.1
4 cone dystrophy 10.1
5 retinal degeneration 10.0
6 coloboma of macula 9.9
7 anterior segment dysgenesis 9.9
8 microphthalmia 9.9
9 cataract 9.9
10 fundus dystrophy 9.9
11 coloboma of iris 9.9
12 inherited retinal disorder 9.9
13 anodontia 9.9 EVC2 EVC
14 short-rib thoracic dysplasia 12 9.8 EVC2 EVC
15 mckusick-kaufman syndrome 9.8 EVC2 EVC
16 weyers acrofacial dysostosis 9.8 EVC2 EVC
17 acrofacial dysostosis 9.7 EVC2 EVC
18 tooth agenesis 9.7 HMX1 EVC2 EVC
19 atrioventricular septal defect 9.7 EVC2 EVC
20 osteochondrodysplasia 9.6 NKX3-2 EVC2 EVC
21 short-rib thoracic dysplasia 6 with or without polydactyly 9.6 EVC2 EVC

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



Diseases related to Oculoauricular Syndrome
Sources

Symptoms & Phenotypes for Oculoauricular Syndrome

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Human phenotypes related to Oculoauricular Syndrome:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 cataract 31 HP:0000518
3 microphthalmia 31 HP:0000568
4 sclerocornea 31 HP:0000647
5 microcornea 31 HP:0000482
6 rod-cone dystrophy 31 HP:0000510
7 macular hypoplasia 31 HP:0001104
8 coloboma 31 HP:0000589
9 ocular hypertension 31 HP:0007906
10 microphakia 31 HP:0012376
11 ocular anterior segment dysgenesis 31 HP:0007700

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
cataract
microphthalmia
sclerocornea
microcornea
more
Head And Neck Ears:
lobular aplasia
narrow intertragic notch
abnormal bridge connecting the crus of the helix and antihelix

Clinical features from OMIM®:

612109 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Oculoauricular Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 EPHA6 EVC EVC2 HMX1 HMX2 HMX3
2 cellular MP:0005384 9.95 EVC EVC2 HMX1 HOXA2 NKX2-8 NKX3-2
3 craniofacial MP:0005382 9.85 EVC EVC2 HMX1 HOXA2 NKX3-2 UHRF1
4 mortality/aging MP:0010768 9.81 EVC EVC2 HMX1 HMX2 HMX3 HOXA2
5 hearing/vestibular/ear MP:0005377 9.65 HMX1 HMX2 HMX3 HOXA2 NKX3-2
6 nervous system MP:0003631 9.5 HMX1 HMX2 HMX3 HOXA2 NKX2-8 NKX3-2
7 skeleton MP:0005390 9.17 EVC EVC2 HMX1 HMX2 HOXA2 NKX3-2
Sources

Drugs & Therapeutics for Oculoauricular Syndrome

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Search Clinical Trials , NIH Clinical Center for Oculoauricular Syndrome

Cochrane evidence based reviews: oculoauricular syndrome

Sources

Genetic Tests for Oculoauricular Syndrome

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Genetic tests related to Oculoauricular Syndrome:

# Genetic test Affiliating Genes
1 Oculoauricular Syndrome 29 HMX1
Sources

Anatomical Context for Oculoauricular Syndrome

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MalaCards organs/tissues related to Oculoauricular Syndrome:

40
Eye
Sources

Publications for Oculoauricular Syndrome

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Articles related to Oculoauricular Syndrome:

# Title Authors PMID Year
1
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy. 61 6 57
25574057 2015
2
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. 57 6
18423520 2008
3
Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation. 61
29140751 2018
Sources

Variations for Oculoauricular Syndrome

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ClinVar genetic disease variations for Oculoauricular Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HMX1 HMX1, 26-BP DEL, NT215 Deletion Pathogenic 14865 GRCh37:
GRCh38:
2 HMX1 NM_018942.3(HMX1):c.650A>C (p.Gln217Pro) SNV Pathogenic 192315 rs876657398 GRCh37: 4:8869816-8869816
GRCh38: 4:8868090-8868090
Sources

Expression for Oculoauricular Syndrome

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Search GEO for disease gene expression data for Oculoauricular Syndrome.
Sources

Pathways for Oculoauricular Syndrome

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Pathways related to Oculoauricular Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Hedgehog signaling pathway (KEGG) 36
10.37 EVC2 EVC
Sources

GO Terms for Oculoauricular Syndrome

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Cellular components related to Oculoauricular Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.17 UHRF1 NKX3-2 NKX2-8 HOXA2 HMX3 HMX2
2 ciliary membrane GO:0060170 9.16 EVC2 EVC
3 plasma membrane protein complex GO:0098797 8.96 EVC2 EVC

Biological processes related to Oculoauricular Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.63 NKX3-2 NKX2-8 HOXA2 HMX3 HMX2 HMX1
2 regulation of transcription, DNA-templated GO:0006355 9.43 NKX3-2 NKX2-8 HOXA2 HMX3 HMX2 HMX1
3 smoothened signaling pathway GO:0007224 9.37 EVC2 EVC
4 inner ear morphogenesis GO:0042472 9.32 HMX3 HMX2
5 middle ear morphogenesis GO:0042474 9.26 NKX3-2 HOXA2
6 multicellular organism development GO:0007275 9.1 NKX2-8 HOXA2 HMX3 HMX2 HMX1 EPHA6

Molecular functions related to Oculoauricular Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.7 UHRF1 NKX3-2 NKX2-8 HOXA2 HMX3 HMX2
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.43 HMX3 HMX2 HMX1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 NKX3-2 NKX2-8 HOXA2 HMX3 HMX2 HMX1
4 sequence-specific double-stranded DNA binding GO:1990837 9.02 NKX3-2 NKX2-8 HOXA2 HMX2 HMX1
Sources

Sources for Oculoauricular Syndrome

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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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