MCID: OCL048
MIFTS: 33

Oculoauricular Syndrome

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

Aliases & Classifications for Oculoauricular Syndrome

MalaCards integrated aliases for Oculoauricular Syndrome:

Name: Oculoauricular Syndrome 53 12 71 28 13 41 14 69
Schorderet-Munier-Franceschetti Syndrome 53 71
Ocacs 53 71
Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, and Anomalies of the External Ear 53
Oculoauricular Syndrome, Schorderet Type 55
Oculo-Auricular Syndrome 36

Characteristics:

Orphanet epidemiological data:

55
oculoauricular syndrome, schorderet type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
oculoauricular syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 612109
Disease Ontology 12 DOID:0060482
ICD10 32 Q87.8
Orphanet 55 ORPHA157962
ICD10 via Orphanet 33 Q87.8
MedGen 39 C2677500
KEGG 36 H01012
UMLS 69 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, and has symptoms including nystagmus, cataract and microphthalmia. An important gene associated with Oculoauricular Syndrome is HMX1 (H6 Family Homeobox 1). Affiliated tissues include eye, and related phenotypes are behavior/neurological and endocrine/exocrine gland

UniProtKB/Swiss-Prot : 71 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 : 72 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 cataract 9.9
3 retinitis 9.9

Symptoms & Phenotypes for Oculoauricular Syndrome

Symptoms via clinical synopsis from OMIM:

53
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:

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 microphakia 31 HP:0012376
8 coloboma 31 HP:0000589
9 macular hypoplasia 31 HP:0001104
10 increased intraocular pressure 31 HP:0007906
11 anterior segment dysgenesis 31 HP:0007700

MGI Mouse Phenotypes related to Oculoauricular Syndrome:

43
# 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 28 HMX1

Anatomical Context for Oculoauricular Syndrome

MalaCards organs/tissues related to Oculoauricular Syndrome:

38
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

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 cell differentiation GO:0030154 9.61 GLIS2 HMX2 HMX3
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.58 GLIS2 HMX1 HOXA7
3 regulation of transcription, DNA-templated GO:0006355 9.55 GLIS2 HMX1 HMX2 HMX3 HOXA7
4 nervous system development GO:0007399 9.54 GLIS2 HMX2 HMX3
5 negative regulation of transcription, DNA-templated GO:0045892 9.5 GLIS2 HMX1 HOXA7
6 transcription, DNA-templated GO:0006351 9.35 GLIS2 HMX1 HMX2 HMX3 HOXA7
7 inner ear morphogenesis GO:0042472 9.26 HMX2 HMX3
8 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 9.46 GLIS2 HMX1 HMX3 HOXA7
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.13 GLIS2 HMX1 HMX3
3 sequence-specific DNA binding GO:0043565 8.92 HMX1 HMX2 HMX3 HOXA7

Sources for Oculoauricular Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....