Optic Disc Anomalies with Retinal and/or Macular Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

MalaCards integrated aliases for Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

Name: Optic Disc Anomalies with Retinal and/or Macular Dystrophy ⁵⁷ ¹² ³⁶ ¹⁵ ³⁹

Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome ⁵⁸ ²⁹ ⁶

Odrmd ⁵⁷ ⁷³

Optic Disk Anomalies with Retinal and/or Macular Dystrophy ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

HPO:

³¹

optic disc anomalies with retinal and/or macular dystrophy:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital malformations of posterior segment of eye

Other congenital malformations of posterior segment of eye

Orphanet: ⁵⁸

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0080635

OMIM® ⁵⁷ 212550

KEGG ³⁶ H02231

MeSH ⁴⁴ D008850

ICD10 via Orphanet ³³ Q14.8

Orphanet ⁵⁸ ORPHA435930

MedGen ⁴¹ C1859311 C4225424

SNOMED-CT via HPO ⁶⁸ 128306009 193570009 204108000 more

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Summaries for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

KEGG : ³⁶ Optic disc anomalies with retinal and/or macular dystrophy (ODRMD) is an autosomal recessive ocular disorder. It has been reported that a homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.

MalaCards based summary : Optic Disc Anomalies with Retinal and/or Macular Dystrophy, also known as colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, is related to trichohepatoenteric syndrome 2 and gastrointestinal defects and immunodeficiency syndrome. An important gene associated with Optic Disc Anomalies with Retinal and/or Macular Dystrophy is SIX6 (SIX Homeobox 6), and among its related pathways/superpathways is Deadenylation-dependent mRNA decay. Affiliated tissues include eye, and related phenotypes are glaucoma and retinal detachment

Disease Ontology : ¹² A microphthalmia that has material basis in homozygous mutation in the SIX6 gene on chromosome 14q23.

UniProtKB/Swiss-Prot : ⁷³ Optic disk anomalies with retinal and/or macular dystrophy: An ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia.

More information from OMIM: 212550

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Related Diseases for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Diseases related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	trichohepatoenteric syndrome 2	9.9	TTC37 SKIV2L
2	gastrointestinal defects and immunodeficiency syndrome	9.9	TTC37 SKIV2L
3	diarrhea 5, with tufting enteropathy, congenital	9.8	TTC37 SKIV2L
4	diarrhea	9.8	TTC37 SKIV2L
5	congenital diarrhea	9.8	TTC37 SKIV2L
6	diarrhea 2, with microvillus atrophy	9.7	TTC37 SKIV2L
7	familial woolly hair syndrome	9.6	TTC37 SKIV2L
8	trichohepatoenteric syndrome 1	9.6	TTC37 SKIV2L DNAI2

Graphical network of the top 20 diseases related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

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Symptoms & Phenotypes for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Human phenotypes related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

³¹ (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	glaucoma ³¹	occasional (7.5%)	HP:0000501
2	retinal detachment ³¹	occasional (7.5%)	HP:0000541
3	iris coloboma ³¹	occasional (7.5%)	HP:0000612
4	chorioretinal coloboma ³¹	occasional (7.5%)	HP:0000567
5	nystagmus ³¹		HP:0000639
6	cataract ³¹		HP:0000518
7	microphthalmia ³¹		HP:0000568
8	miosis ³¹		HP:0000616
9	retinal dystrophy ³¹		HP:0000556
10	horizontal nystagmus ³¹		HP:0000666
11	macular atrophy ³¹		HP:0007401

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Eyes:
retinal dystrophy
horizontal nystagmus
chorioretinal coloboma (rare)
retinal detachment (rare)
microphthalmia (in some patients)
more

Clinical features from OMIM®:

212550 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Search Clinical Trials , NIH Clinical Center for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

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Genetic Tests for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Genetic tests related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

#	Genetic test	Affiliating Genes
1	Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome ²⁹	SIX6

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Anatomical Context for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

MalaCards organs/tissues related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

⁴⁰

Eye

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Publications for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Articles related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

#	Title	Authors	PMID	Year
1	A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation. ⁵⁷ ⁶	Yariz KO...Tekin M	24702266	2015
2	Homozygous truncation of SIX6 causes complex microphthalmia in humans. ⁶ ⁵⁷	Aldahmesh MA...Alkuraya FS	23167593	2013

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Genes for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Genes related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SIX6	SIX Homeobox 6	Protein Coding	1381.34	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵	23167593
2	TTC37	Tetratricopeptide Repeat Domain 37	Protein Coding	5.46	DISEASES inferred ¹⁵
3	DNAI2	Dynein Axonemal Intermediate Chain 2	Protein Coding	5.36	DISEASES inferred ¹⁵
4	SKIV2L	Ski2 Like RNA Helicase	Protein Coding	5.08	DISEASES inferred ¹⁵
5	SLC27A4	Solute Carrier Family 27 Member 4	Protein Coding	4.95	DISEASES inferred ¹⁵
6	MMACHC	Metabolism Of Cobalamin Associated C	Protein Coding	4.9	DISEASES inferred ¹⁵

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Variations for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

ClinVar genetic disease variations for Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SIX6	NM_007374.3(SIX6):c.532_536del (p.Asn178fs)	Deletion	Pathogenic	189377	rs786205142	14:60976648-60976652	14:60509930-60509934
2	SIX6	NM_007374.3(SIX6):c.110T>C (p.Leu37Pro)	SNV	Pathogenic	189378	rs786204851	14:60976226-60976226	14:60509508-60509508
3	SIX6	NM_007374.3(SIX6):c.549C>G (p.Asp183Glu)	SNV	Likely pathogenic	870595		14:60976665-60976665	14:60509947-60509947
4	SIX6	NM_007374.3(SIX6):c.493A>G (p.Thr165Ala)	SNV	Uncertain significance	4436	rs104894480	14:60976609-60976609	14:60509891-60509891
5	SIX6	NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)	SNV	Uncertain significance	445796	rs146737847	14:60976501-60976501	14:60509783-60509783
6	SIX6	NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)	SNV	Likely benign	522355	rs45549246	14:60977843-60977843	14:60511125-60511125
7	SIX6	NM_007374.3(SIX6):c.421C>A (p.His141Asn)	SNV	Benign	260163	rs33912345	14:60976537-60976537	14:60509819-60509819

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Expression for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Search GEO for disease gene expression data for Optic Disc Anomalies with Retinal and/or Macular Dystrophy.

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Pathways for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Pathways related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Deadenylation-dependent mRNA decay ⁶⁵ Show member pathways Deadenylation of mRNA ⁶⁵ mRNA decay by 3 to 5' exoribonuclease ⁶⁵ mRNA decay by 5 to 3' exoribonuclease ⁶⁵ RNA degradation ³⁶	10.91	TTC37 SKIV2L

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GO Terms for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Cellular components related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Ski complex	GO:0055087	8.62	TTC37 SKIV2L

Biological processes related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	GO:0043928	8.96	TTC37 SKIV2L
2	RNA catabolic process	GO:0006401	8.62	TTC37 SKIV2L

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Sources for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

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 FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

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 MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

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

Optic Disc Anomalies with Retinal and/or Macular Dystrophy (ODRMD)

Aliases & Classifications for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

MalaCards integrated aliases for Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Related Diseases for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Diseases related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

Symptoms & Phenotypes for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Human phenotypes related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Genetic Tests for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Genetic tests related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

Anatomical Context for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

MalaCards organs/tissues related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

Publications for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Articles related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

Genes for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Genes related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy (1 elite genes):

Variations for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

ClinVar genetic disease variations for Optic Disc Anomalies with Retinal and/or Macular Dystrophy:

Expression for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Pathways for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Pathways related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy according to GeneCards Suite gene sharing:

GO Terms for Optic Disc Anomalies with Retinal and/or Macular Dystrophy

Cellular components related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy according to GeneCards Suite gene sharing:

Biological processes related to Optic Disc Anomalies with Retinal and/or Macular Dystrophy according to GeneCards Suite gene sharing:

Sources for Optic Disc Anomalies with Retinal and/or Macular Dystrophy