MCID: OCL048
MIFTS: 33

Oculoauricular Syndrome

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

Aliases & Classifications for Oculoauricular Syndrome

MalaCards integrated aliases for Oculoauricular Syndrome:

Name: Oculoauricular Syndrome 57 12 75 29 13 6 44 15 73
Schorderet-Munier-Franceschetti Syndrome 57 75
Oculo-Auricular Syndrome 37 40
Ocacs 57 75
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 59

Characteristics:

Orphanet epidemiological data:

59
oculoauricular syndrome, schorderet type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
oculoauricular syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 612109
Disease Ontology 12 DOID:0060482
ICD10 33 Q87.8
Orphanet 59 ORPHA157962
ICD10 via Orphanet 34 Q87.8
MedGen 42 C2677500
KEGG 37 H01012
UMLS 73 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 retinitis. 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 : 75 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 : 76 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 11.0
2 retinitis 9.9
3 fundus dystrophy 9.9
4 anterior segment dysgenesis 9.9
5 cataract 9.9

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



Diseases related to Oculoauricular Syndrome

Symptoms & Phenotypes for Oculoauricular Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Oculoauricular Syndrome:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 cataract 32 HP:0000518
3 microphthalmia 32 HP:0000568
4 sclerocornea 32 HP:0000647
5 microcornea 32 HP:0000482
6 rod-cone dystrophy 32 HP:0000510
7 microphakia 32 HP:0012376
8 coloboma 32 HP:0000589
9 macular hypoplasia 32 HP:0001104
10 increased intraocular pressure 32 HP:0007906
11 anterior segment dysgenesis 32 HP:0007700

MGI Mouse Phenotypes related to Oculoauricular Syndrome:

46
# 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 29 HMX1

Anatomical Context for Oculoauricular Syndrome

MalaCards organs/tissues related to Oculoauricular Syndrome:

41
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 )
2017
2
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy. ( 25574057 )
2015

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 9.65 GLIS2 HMX1 HMX2 HMX3 HOXA7
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.61 GLIS2 HMX1 HOXA7
3 nervous system development GO:0007399 9.58 GLIS2 HMX2 HMX3
4 transcription, DNA-templated GO:0006351 9.55 GLIS2 HMX1 HMX2 HMX3 HOXA7
5 negative regulation of transcription, DNA-templated GO:0045892 9.54 GLIS2 HMX1 HOXA7
6 inner ear morphogenesis GO:0042472 9.32 HMX2 HMX3
7 cell differentiation GO:0030154 9.26 EPHA6 GLIS2 HMX2 HMX3
8 multicellular organism development GO:0007275 9.1 EPHA6 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 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.02 GLIS2 HMX1 HMX2 HMX3 HOXA7

Sources for Oculoauricular Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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