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 ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶ ⁴³ ¹⁵ ⁷¹

Schorderet-Munier-Franceschetti Syndrome ⁵⁶ ⁷³

Oculo-Auricular Syndrome ³⁶ ³⁹

Ocacs ⁵⁶ ⁷³

Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, and Anomalies of the External Ear ⁵⁶

Oculoauricular Syndrome, Schorderet Type ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

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: ³² ³³

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: ⁵⁸

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060482

OMIM ⁵⁶ 612109

KEGG ³⁶ H01012

MeSH ⁴³ C567416 D005124

ICD10 ³² Q87.8

ICD10 via Orphanet ³³ Q87.8

Orphanet ⁵⁸ ORPHA157962

MedGen ⁴¹ C2677500

SNOMED-CT via HPO ⁶⁸ 112222000 128306009 193570009 more

UMLS ⁷¹ C2677500

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Summaries for Oculoauricular Syndrome

KEGG : ³⁶ Oculo-auricular syndrome is a rare developmental recessive condition characterized by ophthalmic anomalies and a particular cleft ear lobule. Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas, and rod-cone dystrophy. Mutation in the human Hmx1 ortholog HMX1 (NKX5-3) results in this disease.

MalaCards based summary : Oculoauricular Syndrome, also known as schorderet-munier-franceschetti syndrome, is related to microtia-anotia and ovarian cancer. An important gene associated with Oculoauricular Syndrome is HMX1 (H6 Family Homeobox 1), and among its related pathways/superpathways is Hedgehog signaling pathway (KEGG). Affiliated tissues include eye, and related phenotypes are cataract and nystagmus

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.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Oculoauricular syndrome is a rare genetic condition affecting the eyes and ears. It is due to mutations... more...

More information 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:

(show all 25)

#	Related Disease	Score	Top Affiliating Genes
1	microtia-anotia	11.3
2	ovarian cancer	10.3
3	ovarian epithelial cancer	10.3
4	entropion	10.3	HMX3 HMX1
5	retinitis pigmentosa	10.2
6	cone dystrophy	10.2
7	coloboma of macula	10.1
8	anterior segment dysgenesis	10.1
9	microphthalmia	10.1
10	cataract	10.1
11	fundus dystrophy	10.1
12	coloboma of iris	10.1
13	inherited retinal disorder	10.1
14	retinal degeneration	10.1
15	anodontia	9.9	EVC2 EVC
16	clouston syndrome	9.9	EVC2 EVC
17	short-rib thoracic dysplasia 12	9.9	EVC2 EVC
18	polydactyly, postaxial, type a1	9.8	EVC2 EVC
19	mckusick-kaufman syndrome	9.8	EVC2 EVC
20	weyers acrofacial dysostosis	9.8	EVC2 EVC
21	acrofacial dysostosis	9.7	EVC2 EVC
22	short-rib thoracic dysplasia 6 with or without polydactyly	9.7	EVC2 EVC
23	cranioectodermal dysplasia 1	9.6	EVC2 EVC
24	odontochondrodysplasia	9.5	NKX3-2 EVC2 EVC
25	atrioventricular septal defect	9.5	EVC2 EVC

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

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Symptoms & Phenotypes for Oculoauricular Syndrome

Human phenotypes related to Oculoauricular Syndrome:

³¹ (show all 11)

#	Description	HPO Source Accession
1	cataract ³¹	HP:0000518
2	nystagmus ³¹	HP:0000639
3	microphthalmia ³¹	HP:0000568
4	sclerocornea ³¹	HP:0000647
5	microcornea ³¹	HP:0000482
6	rod-cone dystrophy ³¹	HP:0000510
7	macular hypoplasia ³¹	HP:0001104
8	coloboma ³¹	HP:0000589
9	ocular hypertension ³¹	HP:0007906
10	microphakia ³¹	HP:0012376
11	ocular anterior segment dysgenesis ³¹	HP:0007700

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
cataract
nystagmus
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

MGI Mouse Phenotypes related to Oculoauricular Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.03	EPHA6 EVC HMX1 HMX2 HMX3 HOXA2
2	growth/size/body region	MP:0005378	9.97	EVC EVC2 HMX1 HMX2 HMX3 HOXA2
3	mortality/aging	MP:0010768	9.91	EVC EVC2 HMX1 HMX2 HMX3 HOXA2
4	craniofacial	MP:0005382	9.8	EVC EVC2 HMX1 HOXA2 NKX3-2
5	hearing/vestibular/ear	MP:0005377	9.72	HMX1 HMX2 HMX3 HOXA2 NKX3-2
6	nervous system	MP:0003631	9.56	HMX1 HMX2 HMX3 HOXA2 HOXC4 NKX2-8
7	muscle	MP:0005369	9.55	HMX2 HMX3 HOXA2 HOXC4 NKX3-2
8	skeleton	MP:0005390	9.17	EVC EVC2 HMX1 HMX2 HOXA2 HOXC4

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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 ²⁹	HMX1

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Anatomical Context for Oculoauricular Syndrome

MalaCards organs/tissues related to Oculoauricular Syndrome:

⁴⁰

Eye

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Publications for Oculoauricular Syndrome

Articles related to Oculoauricular Syndrome:

#	Title	Authors	PMID	Year
1	Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy. ⁶¹ ⁶ ⁵⁶	Gillespie RL...Black GC	25574057	2015
2	Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. ⁶ ⁵⁶	Schorderet DF...Munier FL	18423520	2008
3	Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation. ⁶¹	Abdel-Salam GMH...Afifi HH	29140751	2018

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Genes for Oculoauricular Syndrome

Genes related to Oculoauricular Syndrome (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HMX1	H6 Family Homeobox 1	Protein Coding	1393.37	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	18423520 25574057
2	HMX3	H6 Family Homeobox 3	Protein Coding	7.49	DISEASES inferred ¹⁵
3	HMX2	H6 Family Homeobox 2	Protein Coding	6.69	DISEASES inferred ¹⁵
4	CCDC90B	Coiled-Coil Domain Containing 90B	Protein Coding	6.21	DISEASES inferred ¹⁵
5	EPHA6	EPH Receptor A6	Protein Coding	6.18	DISEASES inferred ¹⁵
6	NKX3-2	NK3 Homeobox 2	Protein Coding	6.15	DISEASES inferred ¹⁵
7	NKX2-8	NK2 Homeobox 8	Protein Coding	6.05	DISEASES inferred ¹⁵
8	HOXA2	Homeobox A2	Protein Coding	5.75	DISEASES inferred ¹⁵
9	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	5.73	DISEASES inferred ¹⁵
10	HOXC4	Homeobox C4	Protein Coding	5.58	DISEASES inferred ¹⁵
11	SH3KBP1	SH3 Domain Containing Kinase Binding Protein 1	Protein Coding	5.52	DISEASES inferred ¹⁵
12	EVC	EvC Ciliary Complex Subunit 1	Protein Coding	5.52	DISEASES inferred ¹⁵

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Variations for Oculoauricular Syndrome

ClinVar genetic disease variations for Oculoauricular Syndrome:

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	HMX1	HMX1, 26-BP DEL, NT215	deletion	Pathogenic	14865
2	HMX1	NM_018942.3(HMX1):c.650A>C (p.Gln217Pro)	SNV	Pathogenic	192315	rs876657398	4:8869816-8869816	4:8868090-8868090

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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

Pathways related to Oculoauricular Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Hedgehog signaling pathway (KEGG) ³⁶	10.32	EVC2 EVC

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GO Terms for Oculoauricular Syndrome

Cellular components related to Oculoauricular Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear chromatin	GO:0000790	9.17	NKX3-2 NKX2-8 HOXC4 HOXA2 HMX3 HMX2
2	ciliary membrane	GO:0060170	9.16	EVC2 EVC
3	plasma membrane protein complex	GO:0098797	8.96	EVC2 EVC

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	9.5	NKX3-2 NKX2-8 HOXC4 HOXA2 HMX3 HMX2
2	skeletal system development	GO:0001501	9.43	NKX3-2 HOXC4 EVC
3	inner ear morphogenesis	GO:0042472	9.37	HMX3 HMX2
4	embryonic skeletal system morphogenesis	GO:0048704	9.32	HOXC4 HOXA2
5	multicellular organism development	GO:0007275	9.17	NKX2-8 HOXC4 HOXA2 HMX3 HMX2 HMX1
6	middle ear morphogenesis	GO:0042474	9.16	NKX3-2 HOXA2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding	GO:0003677	9.7	NKX3-2 NKX2-8 HOXC4 HOXA2 HMX3 HMX2
2	RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0000978	9.56	NKX3-2 NKX2-8 HOXC4 HOXA2
3	DNA-binding transcription repressor activity, RNA polymerase II-specific	GO:0001227	9.5	NKX3-2 HOXA2 HMX1
4	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.5	NKX3-2 NKX2-8 HOXC4 HOXA2 HMX3 HMX2
5	sequence-specific DNA binding	GO:0043565	9.17	NKX3-2 NKX2-8 HOXC4 HOXA2 HMX3 HMX2

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Sources for Oculoauricular Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁶ DrugBank

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¹⁸ ExPASy

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

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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:

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

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

Pathways related to Oculoauricular Syndrome according to GeneCards Suite gene sharing:

GO Terms for Oculoauricular Syndrome

Cellular components related to Oculoauricular Syndrome according to GeneCards Suite gene sharing:

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