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 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 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

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

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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 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

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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	11.0
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:

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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 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

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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:

⁴¹

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 G.M.H....Afifi H.H.	2017
2	Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy. ( 25574057 )	Gillespie R.L....Black G.C.	2015

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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	1393.59	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	16.95	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	HMX2	H6 Family Homeobox 2	Protein Coding	16.55	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	GLIS2	GLIS Family Zinc Finger 2	Protein Coding	16.01	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	HMX3	H6 Family Homeobox 3	Protein Coding	7.73	DISEASES inferred ¹⁵
6	HOXA7	Homeobox A7	Protein Coding	6	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	9.65	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

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Sources for Oculoauricular Syndrome

¹ BioSystems

² BitterDB

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⁴ Cell Signaling Technology

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⁴¹ MalaCards

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⁵⁷ OMIM

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⁵⁹ Orphanet

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⁶⁸ SNOMED-CT

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⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia