Oculoauricular Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁹

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 612109

Disease Ontology ¹² DOID:0060482

ICD10 ³³ Q87.8

MeSH ⁴⁴ C567416 D005124

Orphanet ⁵⁹ ORPHA157962

ICD10 via Orphanet ³⁴ Q87.8

MedGen ⁴² C2677500

KEGG ³⁷ H01012

SNOMED-CT via HPO ⁶⁹ 258211005 26098002 28835009 more

UMLS ⁷³ C2677500

Sources

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 : 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

Sources

Related Diseases for Oculoauricular Syndrome

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

#	Related Disease	Score
1	microtia-anotia	11.1
2	cataract	10.0
3	fundus dystrophy	10.0
4	anterior segment dysgenesis	10.0

Sources

Symptoms & Phenotypes for Oculoauricular Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Oculoauricular Syndrome:

³² (show all 11)

#	Description	HPO Source Accession
1	nystagmus ³²	HP:0000639
2	cataract ³²	HP:0000518
3	microphthalmia ³²	HP:0000568
4	sclerocornea ³²	HP:0000647
5	rod-cone dystrophy ³²	HP:0000510
6	microcornea ³²	HP:0000482
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 developmental abnormality 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

Sources

Drugs & Therapeutics for Oculoauricular Syndrome

Search Clinical Trials , NIH Clinical Center for Oculoauricular Syndrome

Cochrane evidence based reviews: oculoauricular syndrome

Sources

Genetic Tests for Oculoauricular Syndrome

Genetic tests related to Oculoauricular Syndrome:

#	Genetic test	Affiliating Genes
1	Oculoauricular Syndrome ²⁹	HMX1

Sources

Anatomical Context for Oculoauricular Syndrome

MalaCards organs/tissues related to Oculoauricular Syndrome:

⁴¹

Eye

Sources

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

Sources

Genes for Oculoauricular Syndrome

Genes related to Oculoauricular Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HMX1	H6 Family Homeobox 1	Protein Coding	1393.27	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)	18423520 25574057
2	EPHA6	EPH Receptor A6	Protein Coding	16.8	DISEASES inferred ¹⁵
3	HMX2	H6 Family Homeobox 2	Protein Coding	16.44	DISEASES inferred ¹⁵
4	GLIS2	GLIS Family Zinc Finger 2	Protein Coding	15.94	DISEASES inferred ¹⁵
5	HMX3	H6 Family Homeobox 3	Protein Coding	7.62	DISEASES inferred ¹⁵
6	HOXA7	Homeobox A7	Protein Coding	5.93	DISEASES inferred ¹⁵

Sources

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

Sources

Expression for Oculoauricular Syndrome

Search GEO for disease gene expression data for Oculoauricular Syndrome.

Sources

Pathways for Oculoauricular Syndrome

Sources

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	cell differentiation	GO:0030154	9.26	EPHA6 GLIS2 HMX2 HMX3
6	inner ear morphogenesis	GO:0042472	9.16	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

Sources for Oculoauricular Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Oculoauricular Syndrome (OCACS)

Aliases & Classifications for Oculoauricular Syndrome

MalaCards integrated aliases for Oculoauricular Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Oculoauricular Syndrome

Related Diseases for Oculoauricular Syndrome

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

Symptoms & Phenotypes for Oculoauricular Syndrome

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Oculoauricular Syndrome:

MGI Mouse Phenotypes related to Oculoauricular Syndrome:

Drugs & Therapeutics for Oculoauricular Syndrome

Cochrane evidence based reviews: oculoauricular syndrome

Genetic Tests for Oculoauricular Syndrome

Genetic tests related to Oculoauricular Syndrome:

Anatomical Context for Oculoauricular Syndrome

MalaCards organs/tissues related to Oculoauricular Syndrome:

Publications for Oculoauricular Syndrome

Articles related to Oculoauricular Syndrome:

Genes for Oculoauricular Syndrome

Genes related to Oculoauricular Syndrome (1 elite genes):

Variations for Oculoauricular Syndrome

ClinVar genetic disease variations for Oculoauricular Syndrome:

Expression for Oculoauricular Syndrome

Pathways for Oculoauricular Syndrome

GO Terms for Oculoauricular Syndrome

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

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

Sources for Oculoauricular Syndrome