OCACS
MCID: OCL048
MIFTS: 32

Oculoauricular Syndrome (OCACS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Oculoauricular Syndrome

MalaCards integrated aliases for Oculoauricular Syndrome:

Name: Oculoauricular Syndrome 58 12 76 30 13 6 45 15 74
Schorderet-Munier-Franceschetti Syndrome 58 76
Oculo-Auricular Syndrome 38 41
Ocacs 58 76
Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, and Anomalies of the External Ear 58
Oculoauricular Syndrome, Schorderet Type 60

Characteristics:

Orphanet epidemiological data:

60
oculoauricular syndrome, schorderet type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
oculoauricular syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060482
OMIM 58 612109
KEGG 38 H01012
ICD10 34 Q87.8
ICD10 via Orphanet 35 Q87.8
Orphanet 60 ORPHA157962
MedGen 43 C2677500
UMLS 74 C2677500

Summaries for Oculoauricular Syndrome

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.

MalaCards based summary : Oculoauricular Syndrome, also known as schorderet-munier-franceschetti syndrome, is related to microtia-anotia and cataract. An important gene associated with Oculoauricular Syndrome is HMX1 (H6 Family Homeobox 1). Affiliated tissues include eye, and related phenotypes are nystagmus and cataract

UniProtKB/Swiss-Prot : 76 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 : 77 Oculoauricular syndrome is a rare genetic condition affecting the eyes and ears. It is due to mutations... more...

Description from OMIM: 612109

Related Diseases for Oculoauricular Syndrome

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

# Related Disease Score Top Affiliating Genes
1 microtia-anotia 11.2
2 cataract 10.1
3 fundus dystrophy 10.1
4 anterior segment dysgenesis 10.1

Symptoms & Phenotypes for Oculoauricular Syndrome

Human phenotypes related to Oculoauricular Syndrome:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 cataract 33 HP:0000518
3 microphthalmia 33 HP:0000568
4 sclerocornea 33 HP:0000647
5 rod-cone dystrophy 33 HP:0000510
6 microcornea 33 HP:0000482
7 microphakia 33 HP:0012376
8 coloboma 33 HP:0000589
9 macular hypoplasia 33 HP:0001104
10 ocular anterior segment dysgenesis 33 HP:0007700
11 ocular hypertension 33 HP:0007906

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
cataract
microphthalmia
sclerocornea
rod-cone dystrophy
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

MGI Mouse Phenotypes related to Oculoauricular Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 EPHA6 GLIS2 HMX1 HMX2 HMX3
2 endocrine/exocrine gland MP:0005379 9.26 EPHA6 HMX2 HMX3 HOXA7
3 hearing/vestibular/ear MP:0005377 8.8 HMX1 HMX2 HMX3

Drugs & Therapeutics for Oculoauricular Syndrome

Search Clinical Trials , NIH Clinical Center for Oculoauricular Syndrome

Cochrane evidence based reviews: oculoauricular syndrome

Genetic Tests for Oculoauricular Syndrome

Genetic tests related to Oculoauricular Syndrome:

# Genetic test Affiliating Genes
1 Oculoauricular Syndrome 30 HMX1

Anatomical Context for Oculoauricular Syndrome

MalaCards organs/tissues related to Oculoauricular Syndrome:

42
Eye

Publications for Oculoauricular Syndrome

Articles related to Oculoauricular Syndrome:

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

Variations for Oculoauricular Syndrome

ClinVar genetic disease variations for Oculoauricular Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HMX1 HMX1, 26-BP DEL, NT215 deletion Pathogenic
2 HMX1 NM_018942.2(HMX1): c.650A> C (p.Gln217Pro) single nucleotide variant Pathogenic rs876657398 GRCh38 Chromosome 4, 8868090: 8868090
3 HMX1 NM_018942.2(HMX1): c.650A> C (p.Gln217Pro) single nucleotide variant Pathogenic rs876657398 GRCh37 Chromosome 4, 8869816: 8869816

Expression for Oculoauricular Syndrome

Search GEO for disease gene expression data for Oculoauricular Syndrome.

Pathways for Oculoauricular Syndrome

GO Terms for Oculoauricular Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.62 HMX1 HMX2 HMX3 HOXA7
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.58 GLIS2 HMX1 HOXA7
3 negative regulation of transcription, DNA-templated GO:0045892 9.54 GLIS2 HMX1 HOXA7
4 nervous system development GO:0007399 9.43 GLIS2 HMX2 HMX3
5 inner ear morphogenesis GO:0042472 9.16 HMX2 HMX3
6 cell differentiation GO:0030154 9.13 GLIS2 HMX2 HMX3
7 multicellular organism development GO:0007275 9.02 GLIS2 HMX1 HMX2 HMX3 HOXA7

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.65 GLIS2 HMX1 HMX2 HMX3 HOXA7
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.33 GLIS2 HMX1 HMX3
3 sequence-specific DNA binding GO:0043565 9.26 HMX1 HMX2 HMX3 HOXA7
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.02 GLIS2 HMX1 HMX2 HMX3 HOXA7

Sources for Oculoauricular Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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