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

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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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

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: ⁶⁰

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060482

OMIM ⁵⁸ 612109

KEGG ³⁸ H01012

MeSH ⁴⁵ C567416 D005124

ICD10 ³⁴ Q87.8

ICD10 via Orphanet ³⁵ Q87.8

Orphanet ⁶⁰ ORPHA157962

MedGen ⁴³ C2677500

SNOMED-CT via HPO ⁷⁰ 112222000 128306009 193570009 more

UMLS ⁷⁴ C2677500

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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

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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	11.2
2	cataract	10.1
3	fundus dystrophy	10.1
4	anterior segment dysgenesis	10.1

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Symptoms & Phenotypes for Oculoauricular Syndrome

Human phenotypes related to Oculoauricular Syndrome:

³³ (show all 11)

#	Description	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

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Drugs & Therapeutics for Oculoauricular Syndrome

Search Clinical Trials , NIH Clinical Center for Oculoauricular Syndrome

Cochrane evidence based reviews: oculoauricular syndrome

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Genetic Tests for Oculoauricular Syndrome

Genetic tests related to Oculoauricular Syndrome:

#	Genetic test	Affiliating Genes
1	Oculoauricular Syndrome ³⁰	HMX1

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Anatomical Context for Oculoauricular Syndrome

MalaCards organs/tissues related to Oculoauricular Syndrome:

⁴²

Eye

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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 )	Abdel-Salam GMH...Afifi HH	2018
2	Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy. ( 25574057 )	Gillespie RL...Black GC	2015
3	Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. ( 18423520 )	Schorderet DF...Munier FL	2008

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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	1402.21	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	18423520 25574057
2	HMX2	H6 Family Homeobox 2	Protein Coding	16.52	DISEASES inferred ¹⁵
3	EPHA6	EPH Receptor A6	Protein Coding	16.48	DISEASES inferred ¹⁵
4	GLIS2	GLIS Family Zinc Finger 2	Protein Coding	16	DISEASES inferred ¹⁵
5	HMX3	H6 Family Homeobox 3	Protein Coding	7.94	DISEASES inferred ¹⁵
6	HOXA7	Homeobox A7	Protein Coding	6.12	DISEASES inferred ¹⁵

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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

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Expression for Oculoauricular Syndrome

Search GEO for disease gene expression data for Oculoauricular Syndrome.

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Pathways for Oculoauricular Syndrome

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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

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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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

Human phenotypes related to Oculoauricular Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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