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 ⁵⁶ ³⁶ ³⁹

Odrmd ⁵⁶ ⁷³

Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome ⁵⁸

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:

⁵⁶

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

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:

OMIM ⁵⁶ 212550

KEGG ³⁶ H02231

MeSH ⁴³ 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, is also known as odrmd. An important gene associated with Optic Disc Anomalies with Retinal and/or Macular Dystrophy is SIX6 (SIX Homeobox 6). Affiliated tissues include eye, and related phenotypes are chorioretinal coloboma and glaucoma

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

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

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Clinical features from OMIM:

212550

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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

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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. ⁵⁶ ⁶	Yariz KO...Tekin M	24702266	2015
2	Homozygous truncation of SIX6 causes complex microphthalmia in humans. ⁵⁶ ⁶	Aldahmesh MA...Alkuraya FS	23167593	2013
3	Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. ⁶	Gallardo ME...Bovolenta P	15266624	2004

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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	PubmedIds
1	SIX6	SIX Homeobox 6	Protein Coding	1250	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸	15266624 23167593 24702266

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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.110T>C (p.Leu37Pro)	SNV	Pathogenic	189378	rs786204851	14:60976226-60976226	14:60509508-60509508
2	SIX6	NM_007374.3(SIX6):c.532_536del (p.Asn178fs)	deletion	Likely pathogenic	189377	rs786205142	14:60976648-60976652	14:60509930-60509934
3	SIX6	NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)	SNV	Conflicting interpretations of pathogenicity	445796	rs146737847	14:60976501-60976501	14:60509783-60509783
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.614T>G (p.Leu205Arg)	SNV	Likely benign	522355	rs45549246	14:60977843-60977843	14:60511125-60511125
6	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

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

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

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⁷¹ UMLS

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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

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

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

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

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