HOGA
MCID: GYR004
MIFTS: 51

Gyrate Atrophy of Choroid and Retina (HOGA)

Categories: Blood diseases, Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Gyrate Atrophy of Choroid and Retina

MalaCards integrated aliases for Gyrate Atrophy of Choroid and Retina:

Name: Gyrate Atrophy of Choroid and Retina 58 54 60 76 39
Gyrate Atrophy 58 12 77 54 26 76 56 6 45 15 74
Ornithine Aminotransferase Deficiency 58 77 54 26 60 76 30 56 6
Hoga 58 54 26 60 76
Hyperornithinemia with Gyrate Atrophy of Choroid and Retina 58 54 26 76
Oat Deficiency 58 54 26 76
Okt Deficiency 58 54 26 76
Ornithine Keto Acid Aminotransferase Deficiency 58 26 76
Ornithine-Delta-Aminotransferase Deficiency 58 26 76
Hyperornithinemia 54 60 74
Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia 58 13
Hyperornithinemia-Gyrate Atrophy of Choroid and Retina Syndrome 54 60
Fuchs Atrophia Gyrata Chorioideae Et Retinae 54 74
Gyrate Atrophy of the Choroid and Retina 77 26
Ornithinemia with Gyrate Atrophy 12 26
Gacr 58 76
Hyperornithinemia with Gyrate Atrophy of Choroid and Retina; Hoga 58
Ornithine Ketoacid Aminotransferase Deficiency 54
Gyrate Atrophy of the Choroid and/or Retina 12
Atrophy, Gyrate, of Choroid and Retina ) 41
Gyrate Atrophy of the Retina 12
Girate Atrophy of the Retina 54
Ornithine Aminotransferase 13

Characteristics:

Orphanet epidemiological data:

60
gyrate atrophy of choroid and retina
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy,stillbirth;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
visual symptoms present by late childhood


HPO:

33
gyrate atrophy of choroid and retina:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:1415
OMIM 58 258870
MeSH 45 D015799
NCIt 51 C84744
SNOMED-CT 69 87126009
MESH via Orphanet 46 C537132
ICD10 via Orphanet 35 E72.4
UMLS via Orphanet 75 C0018425 C0599035
Orphanet 60 ORPHA414

Summaries for Gyrate Atrophy of Choroid and Retina

NIH Rare Diseases : 54 Gyrate atrophy of the choroid and retina is an inherited disorder of protein metabolism characterized by progressive vision loss. Symptoms such as nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision develop during childhood. Over time, the field of vision progressively narrows, resulting in tunnel vision. Cataracts may also develop. These vision changes may lead to blindness by about the age of 50. While most people with gyrate atrophy of the choroid and retina have no symptoms other than vision loss, neonatal hyperammonemia (excess ammonia in the blood in the newborn period), neurological abnormalities, intellectual disability, peripheral nerve problems, and muscle weakness may occur. This condition is caused by mutations in the OAT gene and is inherited in an autosomal recessive manner. Treatment may include dietary supplements and/or a specialized diet.

MalaCards based summary : Gyrate Atrophy of Choroid and Retina, also known as gyrate atrophy, is related to hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and macular retinal edema. An important gene associated with Gyrate Atrophy of Choroid and Retina is OAT (Ornithine Aminotransferase), and among its related pathways/superpathways are Viral mRNA Translation and Amino Acid metabolism. The drugs Ornithine and Pyridoxine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and skeletal muscle, and related phenotypes are blindness and abnormality of metabolism/homeostasis

Genetics Home Reference : 26 Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50.

OMIM : 58 Gyrate atrophy of the choroid and retina due to deficiency of ornithine aminotransferase is clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence (summary by Peltola et al., 2002). See 238970 for another hyperornithinemia syndrome. (258870)

UniProtKB/Swiss-Prot : 76 Hyperornithinemia with gyrate atrophy of choroid and retina: A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence.

Wikipedia : 77 Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an... more...

Related Diseases for Gyrate Atrophy of Choroid and Retina

Graphical network of the top 20 diseases related to Gyrate Atrophy of Choroid and Retina:



Diseases related to Gyrate Atrophy of Choroid and Retina

Symptoms & Phenotypes for Gyrate Atrophy of Choroid and Retina

Human phenotypes related to Gyrate Atrophy of Choroid and Retina:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 blindness 33 HP:0000618
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 emg abnormality 33 HP:0003457
4 myopia 33 HP:0000545
5 nyctalopia 33 HP:0000662
6 proximal muscle weakness 33 HP:0003701
7 chorioretinal atrophy 33 HP:0000533
8 posterior subcapsular cataract 33 HP:0007787

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
progressive chorioretinal degeneration
myopia (onset in first decade)
night blindness (onset in first decade)
progressive loss of peripheral vision (onset in first decade)
blindness (onset in fourth or fifth decade)
more
Laboratory Abnormalities:
elevated plasma ornithine (~10-fold)
ornithine-delta-aminotransferase (oat) deficiency
plasma ammonia not elevated
elevated urinary ornithine, lysine, arginine
decreased plasma lysine, glutamic acid, and glutamine

Muscle Soft Tissue:
mild proximal muscle weakness (<10% of patients)
tubular aggregates in type 2 skeletal muscle fibers
abnormal emg

Clinical features from OMIM:

258870

Drugs & Therapeutics for Gyrate Atrophy of Choroid and Retina

Drugs for Gyrate Atrophy of Choroid and Retina (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ornithine Approved, Nutraceutical Phase 1 3184-13-2, 70-26-8 6262
2
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
3
Pyridoxal Phosphate Approved, Investigational, Nutraceutical 54-47-7 1051
4 Vitamin B 6
5 arginine
6
Pyridoxal Experimental, Nutraceutical 66-72-8 1050

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Gene Therapy for Gyrate Atrophy Completed NCT00001735 Phase 1
2 Gyrate Atrophy of the Choroid and Retina Completed NCT00001166
3 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Gyrate Atrophy of Choroid and Retina

Cochrane evidence based reviews: gyrate atrophy

Genetic Tests for Gyrate Atrophy of Choroid and Retina

Genetic tests related to Gyrate Atrophy of Choroid and Retina:

# Genetic test Affiliating Genes
1 Ornithine Aminotransferase Deficiency 30 OAT

Anatomical Context for Gyrate Atrophy of Choroid and Retina

MalaCards organs/tissues related to Gyrate Atrophy of Choroid and Retina:

42
Retina, Eye, Skeletal Muscle, Skin, Liver, Brain, Thyroid

Publications for Gyrate Atrophy of Choroid and Retina

Articles related to Gyrate Atrophy of Choroid and Retina:

(show top 50) (show all 210)
# Title Authors Year
1
Resolution of cystoid macular edema following arginine-restricted diet and vitamin B6 supplementation in a case of gyrate atrophy. ( 29654911 )
2018
2
Cystoid macular edema secondary to gyrate atrophy in a child treated with sub-tenon injection of triamcinolone acetonide. ( 30505995 )
2018
3
Letter to the editor regarding: "cystoid macular edema secondary to gyrate atrophy in a child treated with sub-tenon injection of triamcinolone acetonide". ( 30891531 )
2018
4
Dexamethasone implant for the treatment of gyrate atrophy associated macular edema. ( 30559013 )
2018
5
Bilateral choroidal neovascularization associated with gyrate atrophy managed with intravitreal bevacizumab. ( 28560651 )
2018
6
Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG). ( 29437727 )
2018
7
Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report. ( 29649987 )
2018
8
Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy. ( 29757052 )
2018
9
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina. ( 30251682 )
2018
10
Bevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina. ( 30335551 )
2018
11
Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant. ( 30366948 )
2018
12
Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report. ( 30429681 )
2018
13
Inborn Errors of Metabolism: Gyrate Atrophy. ( 30578510 )
2018
14
Reversal of cystoid macular edema in gyrate atrophy patients. ( 28388263 )
2017
15
Carbonic Anhydrase Inhibitor with Topical NSAID Therapy to Manage Cystoid Macular Edema in a Case of Gyrate Atrophy. ( 28708224 )
2017
16
Progression of gyrate atrophy measured with ultra-wide-field imaging. ( 26003990 )
2016
17
A late discovery of familial gyrate atrophy of the choroid and retina. ( 26951877 )
2016
18
Gyrate Atrophy-Like Phenotype: Normal Plasma Ornithine and Retinal Crystals. ( 27309525 )
2016
19
Ultrawide field fluorescein angiogram in a family with gyrate atrophy and foveoschisis. ( 27433038 )
2016
20
Ultra-wide Field Imaging of an Operated Macular Hole in Gyrate Atrophy. ( 27621797 )
2016
21
Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy. ( 26770854 )
2015
22
Gyrate Atrophy in 2 Siblings - Ophthalmological Findings and A New Mutation. ( 26259030 )
2015
23
Long-term Follow-up of Astrocytic Hamartoma of the Optic Disc Associated With Gyrate Atrophy. ( 25856828 )
2015
24
Gyrate atrophy of the choroid and retina with cystoid macular edema and unilateral optic disc drusen. ( 25643373 )
2015
25
Intravitreal ranibizumab for choroidal neovascularization secondary to gyrate atrophy in a young patient: a multimodal imaging analysis. ( 26419008 )
2015
26
OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina. ( 24429551 )
2014
27
Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia. ( 25187693 )
2014
28
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. ( 23076989 )
2013
29
Gyrate atrophy of the choroid and retina diagnosed by ornithine-I'-aminotransferase gene analysis: a case report. ( 24082780 )
2013
30
Gyrate atrophy of choroid and retina with myopia, cataract and systemic proximal myopathy: A rare case report from rural India. ( 23382768 )
2012
31
Retinal structure, function, and molecular pathologic features in gyrate atrophy. ( 22182799 )
2012
32
Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation. ( 22674428 )
2012
33
Retinal detachment and gyrate atrophy of the choroid and retina: case report. ( 22552420 )
2012
34
Bilateral spontaneous dislocation of posterior chamber intraocular lens in a patient with gyrate atrophy. ( 22446909 )
2012
35
Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy. ( 21464322 )
2011
36
Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6. ( 22698901 )
2011
37
Gyrate atrophy of the choroid and retina: a case report. ( 21534348 )
2011
38
Induction of arginase II mRNA by nitric oxide using an in vitro model of gyrate atrophy of choroid and retina. ( 20811048 )
2011
39
First reported cases of gyrate atrophy of the choroid from Nepal. ( 22798087 )
2010
40
Occipital porencephaly in a child with gyrate atrophy of the choroid and retina. ( 21035079 )
2010
41
Retinal detachment causing unilateral blindness in a 12-year-old girl with gyrate atrophy. ( 19757146 )
2009
42
Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report. ( 17565677 )
2007
43
Macular edema associated with gyrate atrophy managed with intravitreal triamcinolone: a case report. ( 18157315 )
2007
44
Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia. ( 17088329 )
2007
45
Gyrate atrophy with bilateral full thickness macular hole. ( 16021183 )
2006
46
Osteoporosis associated with gyrate atrophy: a case report. ( 16906410 )
2006
47
Cystoid macular edema in gyrate atrophy of the choroid and retina: a fluorescein angiography and optical coherence tomography evaluation. ( 16038665 )
2005
48
Bilateral late posterior chamber intraocular lens dislocation with the capsular bag in a patient with gyrate atrophy. ( 15210246 )
2004
49
Gyrate atrophy associated with astrocytic hamartoma of the optic disc. ( 15580003 )
2004
50
Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up. ( 15159649 )
2004

Variations for Gyrate Atrophy of Choroid and Retina

UniProtKB/Swiss-Prot genetic disease variations for Gyrate Atrophy of Choroid and Retina:

76 (show all 28)
# Symbol AA change Variation ID SNP ID
1 OAT p.Asn54Lys VAR_000565 rs121965048
2 OAT p.Tyr55His VAR_000566 rs121965037
3 OAT p.Asn89Lys VAR_000567 rs386833602
4 OAT p.Cys93Phe VAR_000568 rs121965038
5 OAT p.Arg154Leu VAR_000569 rs121965039
6 OAT p.Arg180Thr VAR_000570 rs121965040
7 OAT p.Ala226Val VAR_000572 rs121965059
8 OAT p.Pro241Leu VAR_000573 rs121965051
9 OAT p.Tyr245Cys VAR_000574 rs121965046
10 OAT p.Arg250Pro VAR_000575 rs121965052
11 OAT p.Thr267Ile VAR_000576 rs386833618
12 OAT p.Ala270Pro VAR_000577 rs121965041
13 OAT p.Arg271Lys VAR_000578 rs121965042
14 OAT p.His319Tyr VAR_000579 rs121965049
15 OAT p.Val332Met VAR_000580 rs121965047
16 OAT p.Gly353Asp VAR_000581 rs121965053
17 OAT p.Gly375Ala VAR_000582 rs121965045
18 OAT p.Cys394Arg VAR_000583 rs121965054
19 OAT p.Leu402Pro VAR_000584 rs121965043
20 OAT p.Pro417Leu VAR_000585 rs121965044
21 OAT p.Leu437Phe VAR_000586 rs1800456
22 OAT p.Gln90Glu VAR_015648 rs121965060
23 OAT p.Gly51Asp VAR_071924 rs11553554
24 OAT p.Gln104Arg VAR_071925 rs386833604
25 OAT p.Pro199Gln VAR_071926 rs267606925
26 OAT p.Glu318Lys VAR_071927 rs386833621
27 OAT p.Cys394Tyr VAR_071928 rs386833597
28 OAT p.Ile436Asn VAR_071929 rs386833598

ClinVar genetic disease variations for Gyrate Atrophy of Choroid and Retina:

6 (show top 50) (show all 197)
# Gene Variation Type Significance SNP ID Assembly Location
1 OAT NM_000274.3(OAT): c.648+14A> G single nucleotide variant Benign rs9422807 GRCh37 Chromosome 10, 126093991: 126093991
2 OAT NM_000274.3(OAT): c.648+14A> G single nucleotide variant Benign rs9422807 GRCh38 Chromosome 10, 124405422: 124405422
3 OAT NM_000274.3(OAT): c.1224T> C (p.His408=) single nucleotide variant Uncertain significance rs201864147 GRCh37 Chromosome 10, 126086607: 126086607
4 OAT NM_000274.3(OAT): c.1224T> C (p.His408=) single nucleotide variant Uncertain significance rs201864147 GRCh38 Chromosome 10, 124398038: 124398038
5 OAT NM_000274.3(OAT): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121965034 GRCh37 Chromosome 10, 126100738: 126100738
6 OAT NM_000274.3(OAT): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121965034 GRCh38 Chromosome 10, 124412169: 124412169
7 OAT NM_000274.3(OAT): c.159delC (p.His53Glnfs) deletion Pathogenic rs386833599 GRCh37 Chromosome 10, 126100582: 126100582
8 OAT NM_000274.3(OAT): c.159delC (p.His53Glnfs) deletion Pathogenic rs386833599 GRCh38 Chromosome 10, 124412013: 124412013
9 OAT NM_000274.3(OAT): c.550_552delGCT (p.Ala184del) deletion Pathogenic rs121965035 GRCh37 Chromosome 10, 126094101: 126094103
10 OAT NM_000274.3(OAT): c.550_552delGCT (p.Ala184del) deletion Pathogenic rs121965035 GRCh38 Chromosome 10, 124405532: 124405534
11 OAT NM_000274.3(OAT): c.1186C> T (p.Arg396Ter) single nucleotide variant Likely pathogenic rs121965036 GRCh37 Chromosome 10, 126086645: 126086645
12 OAT NM_000274.3(OAT): c.1186C> T (p.Arg396Ter) single nucleotide variant Likely pathogenic rs121965036 GRCh38 Chromosome 10, 124398076: 124398076
13 OAT NM_000274.3(OAT): c.163T> C (p.Tyr55His) single nucleotide variant Pathogenic rs121965037 GRCh37 Chromosome 10, 126100578: 126100578
14 OAT NM_000274.3(OAT): c.163T> C (p.Tyr55His) single nucleotide variant Pathogenic rs121965037 GRCh38 Chromosome 10, 124412009: 124412009
15 OAT NM_000274.3(OAT): c.278G> T (p.Cys93Phe) single nucleotide variant Pathogenic rs121965038 GRCh37 Chromosome 10, 126097456: 126097456
16 OAT NM_000274.3(OAT): c.278G> T (p.Cys93Phe) single nucleotide variant Pathogenic rs121965038 GRCh38 Chromosome 10, 124408887: 124408887
17 OAT NM_000274.3(OAT): c.461G> T (p.Arg154Leu) single nucleotide variant Pathogenic rs121965039 GRCh37 Chromosome 10, 126097170: 126097170
18 OAT NM_000274.3(OAT): c.461G> T (p.Arg154Leu) single nucleotide variant Pathogenic rs121965039 GRCh38 Chromosome 10, 124408601: 124408601
19 OAT NM_000274.3(OAT): c.539G> C (p.Arg180Thr) single nucleotide variant Pathogenic rs121965040 GRCh37 Chromosome 10, 126094114: 126094114
20 OAT NM_000274.3(OAT): c.539G> C (p.Arg180Thr) single nucleotide variant Pathogenic rs121965040 GRCh38 Chromosome 10, 124405545: 124405545
21 OAT NM_000274.3(OAT): c.808G> C (p.Ala270Pro) single nucleotide variant Pathogenic rs121965041 GRCh37 Chromosome 10, 126091588: 126091588
22 OAT NM_000274.3(OAT): c.808G> C (p.Ala270Pro) single nucleotide variant Pathogenic rs121965041 GRCh38 Chromosome 10, 124403019: 124403019
23 OAT NM_000274.3(OAT): c.812G> A (p.Arg271Lys) single nucleotide variant Pathogenic rs121965042 GRCh37 Chromosome 10, 126091584: 126091584
24 OAT NM_000274.3(OAT): c.812G> A (p.Arg271Lys) single nucleotide variant Pathogenic rs121965042 GRCh38 Chromosome 10, 124403015: 124403015
25 OAT NM_000274.3(OAT): c.1205T> C (p.Leu402Pro) single nucleotide variant Pathogenic rs121965043 GRCh37 Chromosome 10, 126086626: 126086626
26 OAT NM_000274.3(OAT): c.1205T> C (p.Leu402Pro) single nucleotide variant Pathogenic rs121965043 GRCh38 Chromosome 10, 124398057: 124398057
27 OAT NM_000274.3(OAT): c.1250C> T (p.Pro417Leu) single nucleotide variant Pathogenic rs121965044 GRCh37 Chromosome 10, 126086581: 126086581
28 OAT NM_000274.3(OAT): c.1250C> T (p.Pro417Leu) single nucleotide variant Pathogenic rs121965044 GRCh38 Chromosome 10, 124398012: 124398012
29 OAT NM_000274.3(OAT): c.1311G> C (p.Leu437Phe) single nucleotide variant Benign rs1800456 GRCh37 Chromosome 10, 126086520: 126086520
30 OAT NM_000274.3(OAT): c.1311G> C (p.Leu437Phe) single nucleotide variant Benign rs1800456 GRCh38 Chromosome 10, 124397951: 124397951
31 OAT NM_000274.3(OAT): c.1124G> C (p.Gly375Ala) single nucleotide variant Pathogenic rs121965045 GRCh37 Chromosome 10, 126089444: 126089444
32 OAT NM_000274.3(OAT): c.1124G> C (p.Gly375Ala) single nucleotide variant Pathogenic rs121965045 GRCh38 Chromosome 10, 124400875: 124400875
33 OAT NM_000274.3(OAT): c.734A> G (p.Tyr245Cys) single nucleotide variant Pathogenic rs121965046 GRCh37 Chromosome 10, 126092404: 126092404
34 OAT NM_000274.3(OAT): c.734A> G (p.Tyr245Cys) single nucleotide variant Pathogenic rs121965046 GRCh38 Chromosome 10, 124403835: 124403835
35 OAT NM_000274.3(OAT): c.1134C> T (p.Asn378=) single nucleotide variant Benign rs11461 GRCh37 Chromosome 10, 126089434: 126089434
36 OAT NM_000274.3(OAT): c.1134C> T (p.Asn378=) single nucleotide variant Benign rs11461 GRCh38 Chromosome 10, 124400865: 124400865
37 OAT NM_000274.3(OAT): c.994G> A (p.Val332Met) single nucleotide variant Pathogenic/Likely pathogenic rs121965047 GRCh37 Chromosome 10, 126090315: 126090315
38 OAT NM_000274.3(OAT): c.994G> A (p.Val332Met) single nucleotide variant Pathogenic/Likely pathogenic rs121965047 GRCh38 Chromosome 10, 124401746: 124401746
39 OAT NM_000274.3(OAT): c.162C> A (p.Asn54Lys) single nucleotide variant Pathogenic rs121965048 GRCh37 Chromosome 10, 126100579: 126100579
40 OAT NM_000274.3(OAT): c.162C> A (p.Asn54Lys) single nucleotide variant Pathogenic rs121965048 GRCh38 Chromosome 10, 124412010: 124412010
41 OAT NM_000274.3(OAT): c.955C> T (p.His319Tyr) single nucleotide variant Pathogenic rs121965049 GRCh37 Chromosome 10, 126090354: 126090354
42 OAT NM_000274.3(OAT): c.955C> T (p.His319Tyr) single nucleotide variant Pathogenic rs121965049 GRCh38 Chromosome 10, 124401785: 124401785
43 OAT NM_000274.3(OAT): c.425_520del (p.Gly142_Ala173del) deletion Pathogenic/Likely pathogenic rs386833609 GRCh38 Chromosome 10, 124408634: 124408642
44 OAT NM_000274.3(OAT): c.425_520del (p.Gly142_Ala173del) deletion Pathogenic/Likely pathogenic rs386833609 GRCh37 Chromosome 10, 126097203: 126097211
45 OAT OAT, ALU INS insertion Pathogenic
46 OAT NM_000274.3(OAT): c.550G> A (p.Ala184Thr) single nucleotide variant Pathogenic rs121965050 GRCh37 Chromosome 10, 126094103: 126094103
47 OAT NM_000274.3(OAT): c.550G> A (p.Ala184Thr) single nucleotide variant Pathogenic rs121965050 GRCh38 Chromosome 10, 124405534: 124405534
48 OAT NM_000274.3(OAT): c.722C> T (p.Pro241Leu) single nucleotide variant Likely pathogenic rs121965051 GRCh37 Chromosome 10, 126092416: 126092416
49 OAT NM_000274.3(OAT): c.722C> T (p.Pro241Leu) single nucleotide variant Likely pathogenic rs121965051 GRCh38 Chromosome 10, 124403847: 124403847
50 OAT NM_000274.3(OAT): c.749G> C (p.Arg250Pro) single nucleotide variant Pathogenic rs121965052 GRCh37 Chromosome 10, 126092389: 126092389

Expression for Gyrate Atrophy of Choroid and Retina

Search GEO for disease gene expression data for Gyrate Atrophy of Choroid and Retina.

Pathways for Gyrate Atrophy of Choroid and Retina

Pathways related to Gyrate Atrophy of Choroid and Retina according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 GATM OAT PYCR1 SLC25A15
2 11.22 OAT PYCR1
3
Show member pathways
10.89 GATM OAT PYCR1
4
Show member pathways
10.77 OAT PYCR1
5
Show member pathways
10.18 GATM OAT PYCR1

GO Terms for Gyrate Atrophy of Choroid and Retina

Cellular components related to Gyrate Atrophy of Choroid and Retina according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.92 GATM OAT PYCR1 SLC25A15

Biological processes related to Gyrate Atrophy of Choroid and Retina according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.16 OAT ROM1
2 cellular amino acid biosynthetic process GO:0008652 8.96 OAT PYCR1
3 L-proline biosynthetic process GO:0055129 8.62 OAT PYCR1

Sources for Gyrate Atrophy of Choroid and Retina

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