MCID: GYR004
MIFTS: 50

Gyrate Atrophy of Choroid and Retina

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic 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 57 53 59 75 38
Gyrate Atrophy 57 12 76 53 25 75 55 6 44 15 73
Ornithine Aminotransferase Deficiency 57 76 53 25 59 75 29 55 6
Hoga 57 53 25 59 75
Hyperornithinemia with Gyrate Atrophy of Choroid and Retina 57 53 25 75
Oat Deficiency 57 53 25 75
Okt Deficiency 57 53 25 75
Ornithine Keto Acid Aminotransferase Deficiency 57 25 75
Ornithine-Delta-Aminotransferase Deficiency 57 25 75
Hyperornithinemia 53 59 73
Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia 57 13
Hyperornithinemia-Gyrate Atrophy of Choroid and Retina Syndrome 53 59
Fuchs Atrophia Gyrata Chorioideae Et Retinae 53 73
Gyrate Atrophy of the Choroid and Retina 76 25
Ornithinemia with Gyrate Atrophy 12 25
Gacr 57 75
Hyperornithinemia with Gyrate Atrophy of Choroid and Retina; Hoga 57
Ornithine Ketoacid Aminotransferase Deficiency 53
Gyrate Atrophy of the Choroid and/or Retina 12
Atrophy, Gyrate, of Choroid and Retina ) 40
Gyrate Atrophy of the Retina 12
Girate Atrophy of the Retina 53
Ornithine Aminotransferase 13

Characteristics:

Orphanet epidemiological data:

59
gyrate atrophy of choroid and retina
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
visual symptoms present by late childhood


HPO:

32
gyrate atrophy of choroid and retina:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 258870
Disease Ontology 12 DOID:1415
MeSH 44 D015799
NCIt 50 C84744
Orphanet 59 ORPHA414
ICD10 via Orphanet 34 E72.4
MESH via Orphanet 45 C537132
UMLS via Orphanet 74 C0599035 C0018425

Summaries for Gyrate Atrophy of Choroid and Retina

NIH Rare Diseases : 53 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 ornithinemia. An important gene associated with Gyrate Atrophy of Choroid and Retina is OAT (Ornithine Aminotransferase), and among its related pathways/superpathways are Amino Acid metabolism and Arginine and proline metabolism. The drugs Ornithine and Pyridoxal 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

OMIM : 57 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 : 75 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.

Genetics Home Reference : 25 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.

Wikipedia : 76 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

Diseases related to Gyrate Atrophy of Choroid and Retina via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 33.5 OAT SLC25A15
2 ornithinemia 10.9
3 choroiditis 10.7
4 myopathy 10.2
5 retinitis pigmentosa 10.1
6 leber congenital amaurosis 4 10.1
7 cataract 10.1
8 myopia 10.1
9 retinitis 10.1
10 cystinuria 9.5 OAT SLC6A18
11 choroid disease 8.1 DXO OAT PYCR1 SLC6A18

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Gyrate Atrophy of Choroid and Retina:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 blindness 32 HP:0000618
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 emg abnormality 32 HP:0003457
4 myopia 32 HP:0000545
5 nyctalopia 32 HP:0000662
6 proximal muscle weakness 32 HP:0003701
7 chorioretinal atrophy 32 HP:0000533
8 posterior subcapsular cataract 32 HP:0007787

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.5 SLC25A15 SLC6A18
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.5 SLC6A18
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.5 SLC25A15
4 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.5 SLC6A18
5 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.5 SLC25A15
6 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.5 SLC6A18
7 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.5 SLC6A18
8 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.5 SLC6A18
9 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.5 SLC25A15 SLC6A18
10 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.5 SLC25A15
11 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.5 SLC6A18
12 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.5 SLC25A15
13 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.5 SLC25A15

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 70-26-8, 3184-13-2 6262
2
Pyridoxal Approved, Nutraceutical 66-72-8 1050
3
Pyridoxal Phosphate Approved, Investigational, Nutraceutical 54-47-7 1051
4
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
5 Vitamin B 6
6 arginine Nutraceutical

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 29 OAT

Anatomical Context for Gyrate Atrophy of Choroid and Retina

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

41
Retina, Eye, Skeletal Muscle, Skin, Liver, Ovary, Thyroid

Publications for Gyrate Atrophy of Choroid and Retina

Articles related to Gyrate Atrophy of Choroid and Retina:

(show top 50) (show all 186)
# Title Authors Year
1
Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy. ( 26770854 )
2015
2
Gyrate Atrophy in 2 Siblings - Ophthalmological Findings and A New Mutation. ( 26259030 )
2015
3
Long-term Follow-up of Astrocytic Hamartoma of the Optic Disc Associated With Gyrate Atrophy. ( 25856828 )
2015
4
Gyrate atrophy of the choroid and retina with cystoid macular edema and unilateral optic disc drusen. ( 25643373 )
2015
5
OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina. ( 24429551 )
2014
6
Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia. ( 25187693 )
2014
7
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. ( 23076989 )
2013
8
Gyrate atrophy of the choroid and retina diagnosed by ornithine-I'-aminotransferase gene analysis: a case report. ( 24082780 )
2013
9
Gyrate atrophy of choroid and retina with myopia, cataract and systemic proximal myopathy: A rare case report from rural India. ( 23382768 )
2012
10
Retinal structure, function, and molecular pathologic features in gyrate atrophy. ( 22182799 )
2012
11
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
12
Retinal detachment and gyrate atrophy of the choroid and retina: case report. ( 22552420 )
2012
13
Bilateral spontaneous dislocation of posterior chamber intraocular lens in a patient with gyrate atrophy. ( 22446909 )
2012
14
Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy. ( 21464322 )
2011
15
Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6. ( 22698901 )
2011
16
Gyrate atrophy of the choroid and retina: a case report. ( 21534348 )
2011
17
Induction of arginase II mRNA by nitric oxide using an in vitro model of gyrate atrophy of choroid and retina. ( 20811048 )
2011
18
First reported cases of gyrate atrophy of the choroid from Nepal. ( 22798087 )
2010
19
Occipital porencephaly in a child with gyrate atrophy of the choroid and retina. ( 21035079 )
2010
20
Retinal detachment causing unilateral blindness in a 12-year-old girl with gyrate atrophy. ( 19757146 )
2009
21
Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report. ( 17565677 )
2007
22
Macular edema associated with gyrate atrophy managed with intravitreal triamcinolone: a case report. ( 18157315 )
2007
23
Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia. ( 17088329 )
2007
24
Gyrate atrophy with bilateral full thickness macular hole. ( 16021183 )
2006
25
Osteoporosis associated with gyrate atrophy: a case report. ( 16906410 )
2006
26
Cystoid macular edema in gyrate atrophy of the choroid and retina: a fluorescein angiography and optical coherence tomography evaluation. ( 16038665 )
2005
27
Bilateral late posterior chamber intraocular lens dislocation with the capsular bag in a patient with gyrate atrophy. ( 15210246 )
2004
28
Gyrate atrophy associated with astrocytic hamartoma of the optic disc. ( 15580003 )
2004
29
Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up. ( 15159649 )
2004
30
Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy. ( 15249361 )
2004
31
Gyrate atrophy of the choroid: two cases. ( 12854386 )
2003
32
Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children. ( 11831916 )
2002
33
Gyrate atrophy of choroid and retina. ( 12408285 )
2002
34
Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia. ( 12221166 )
2002
35
Assessment of visual function in patients with gyrate atrophy who are considered candidates for gene replacement. ( 11346393 )
2001
36
[Gyrate atrophy of late disclosure]. ( 11913240 )
2001
37
Hyperornithinemia associated with gyrate atrophy of the choroid and retina in a child with myopia. ( 11521006 )
2001
38
Immune response to retinal antigens in patients with gyrate atrophy and other hereditary retinal dystrophies. ( 11449323 )
2001
39
Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase. ( 11297489 )
2001
40
Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina. ( 10655512 )
2000
41
Oral lysine feeding in gyrate atrophy with hyperornithinaemia--a pilot study. ( 10896280 )
2000
42
Possible role of polyamines in gyrate atrophy. ( 11271933 )
2000
43
Characteristics of L-ornithine: 2-oxoacid aminotransferase and potential prenatal diagnosis of gyrate atrophy of the choroid and retina by first trimester chorionic villus sampling. ( 10807973 )
2000
44
[Gyrate atrophy of the choroid and retina: a case report]. ( 11033500 )
2000
45
Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy. ( 10617919 )
1999
46
Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia. ( 10430418 )
1999
47
Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia. ( 10604138 )
1999
48
Creatine corrects muscle 31P spectrum in gyrate atrophy with hyperornithinaemia. ( 10583455 )
1999
49
Muscle creatine phosphate in gyrate atrophy of the choroid and retina with hyperornithinaemia--clues to pathogenesis. ( 10354199 )
1999
50
Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers. ( 9727717 )
1998

Variations for Gyrate Atrophy of Choroid and Retina

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

75 (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 181)
# Gene Variation Type Significance SNP ID Assembly Location
1 OAT NM_000274.3(OAT): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121965034 GRCh37 Chromosome 10, 126100738: 126100738
2 OAT NM_000274.3(OAT): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121965034 GRCh38 Chromosome 10, 124412169: 124412169
3 OAT NM_000274.3(OAT): c.159delC (p.His53Glnfs) deletion Pathogenic/Likely pathogenic rs386833599 GRCh37 Chromosome 10, 126100582: 126100582
4 OAT NM_000274.3(OAT): c.159delC (p.His53Glnfs) deletion Pathogenic/Likely pathogenic rs386833599 GRCh38 Chromosome 10, 124412013: 124412013
5 OAT NM_000274.3(OAT): c.550_552delGCT (p.Ala184del) deletion Pathogenic rs121965035 GRCh37 Chromosome 10, 126094101: 126094103
6 OAT NM_000274.3(OAT): c.550_552delGCT (p.Ala184del) deletion Pathogenic rs121965035 GRCh38 Chromosome 10, 124405532: 124405534
7 OAT NM_000274.3(OAT): c.1186C> T (p.Arg396Ter) single nucleotide variant Pathogenic rs121965036 GRCh37 Chromosome 10, 126086645: 126086645
8 OAT NM_000274.3(OAT): c.1186C> T (p.Arg396Ter) single nucleotide variant Pathogenic rs121965036 GRCh38 Chromosome 10, 124398076: 124398076
9 OAT NM_000274.3(OAT): c.163T> C (p.Tyr55His) single nucleotide variant Pathogenic rs121965037 GRCh37 Chromosome 10, 126100578: 126100578
10 OAT NM_000274.3(OAT): c.163T> C (p.Tyr55His) single nucleotide variant Pathogenic rs121965037 GRCh38 Chromosome 10, 124412009: 124412009
11 OAT NM_000274.3(OAT): c.278G> T (p.Cys93Phe) single nucleotide variant Pathogenic rs121965038 GRCh37 Chromosome 10, 126097456: 126097456
12 OAT NM_000274.3(OAT): c.278G> T (p.Cys93Phe) single nucleotide variant Pathogenic rs121965038 GRCh38 Chromosome 10, 124408887: 124408887
13 OAT NM_000274.3(OAT): c.461G> T (p.Arg154Leu) single nucleotide variant Pathogenic rs121965039 GRCh37 Chromosome 10, 126097170: 126097170
14 OAT NM_000274.3(OAT): c.461G> T (p.Arg154Leu) single nucleotide variant Pathogenic rs121965039 GRCh38 Chromosome 10, 124408601: 124408601
15 OAT NM_000274.3(OAT): c.539G> C (p.Arg180Thr) single nucleotide variant Pathogenic rs121965040 GRCh37 Chromosome 10, 126094114: 126094114
16 OAT NM_000274.3(OAT): c.539G> C (p.Arg180Thr) single nucleotide variant Pathogenic rs121965040 GRCh38 Chromosome 10, 124405545: 124405545
17 OAT NM_000274.3(OAT): c.808G> C (p.Ala270Pro) single nucleotide variant Pathogenic rs121965041 GRCh37 Chromosome 10, 126091588: 126091588
18 OAT NM_000274.3(OAT): c.808G> C (p.Ala270Pro) single nucleotide variant Pathogenic rs121965041 GRCh38 Chromosome 10, 124403019: 124403019
19 OAT NM_000274.3(OAT): c.812G> A (p.Arg271Lys) single nucleotide variant Pathogenic rs121965042 GRCh37 Chromosome 10, 126091584: 126091584
20 OAT NM_000274.3(OAT): c.812G> A (p.Arg271Lys) single nucleotide variant Pathogenic rs121965042 GRCh38 Chromosome 10, 124403015: 124403015
21 OAT NM_000274.3(OAT): c.1205T> C (p.Leu402Pro) single nucleotide variant Pathogenic rs121965043 GRCh37 Chromosome 10, 126086626: 126086626
22 OAT NM_000274.3(OAT): c.1205T> C (p.Leu402Pro) single nucleotide variant Pathogenic rs121965043 GRCh38 Chromosome 10, 124398057: 124398057
23 OAT NM_000274.3(OAT): c.1250C> T (p.Pro417Leu) single nucleotide variant Pathogenic rs121965044 GRCh37 Chromosome 10, 126086581: 126086581
24 OAT NM_000274.3(OAT): c.1250C> T (p.Pro417Leu) single nucleotide variant Pathogenic rs121965044 GRCh38 Chromosome 10, 124398012: 124398012
25 OAT NM_000274.3(OAT): c.1124G> C (p.Gly375Ala) single nucleotide variant Pathogenic rs121965045 GRCh37 Chromosome 10, 126089444: 126089444
26 OAT NM_000274.3(OAT): c.1124G> C (p.Gly375Ala) single nucleotide variant Pathogenic rs121965045 GRCh38 Chromosome 10, 124400875: 124400875
27 OAT NM_000274.3(OAT): c.734A> G (p.Tyr245Cys) single nucleotide variant Pathogenic rs121965046 GRCh37 Chromosome 10, 126092404: 126092404
28 OAT NM_000274.3(OAT): c.734A> G (p.Tyr245Cys) single nucleotide variant Pathogenic rs121965046 GRCh38 Chromosome 10, 124403835: 124403835
29 OAT NM_000274.3(OAT): c.994G> A (p.Val332Met) single nucleotide variant Pathogenic/Likely pathogenic rs121965047 GRCh37 Chromosome 10, 126090315: 126090315
30 OAT NM_000274.3(OAT): c.994G> A (p.Val332Met) single nucleotide variant Pathogenic/Likely pathogenic rs121965047 GRCh38 Chromosome 10, 124401746: 124401746
31 OAT NM_000274.3(OAT): c.162C> A (p.Asn54Lys) single nucleotide variant Pathogenic rs121965048 GRCh37 Chromosome 10, 126100579: 126100579
32 OAT NM_000274.3(OAT): c.162C> A (p.Asn54Lys) single nucleotide variant Pathogenic rs121965048 GRCh38 Chromosome 10, 124412010: 124412010
33 OAT NM_000274.3(OAT): c.955C> T (p.His319Tyr) single nucleotide variant Pathogenic rs121965049 GRCh37 Chromosome 10, 126090354: 126090354
34 OAT NM_000274.3(OAT): c.955C> T (p.His319Tyr) single nucleotide variant Pathogenic rs121965049 GRCh38 Chromosome 10, 124401785: 124401785
35 OAT NM_000274.3(OAT): c.425_520del (p.Gly142_Ala173del) deletion Pathogenic/Likely pathogenic rs386833609 GRCh38 Chromosome 10, 124408634: 124408642
36 OAT NM_000274.3(OAT): c.425_520del (p.Gly142_Ala173del) deletion Pathogenic/Likely pathogenic rs386833609 GRCh37 Chromosome 10, 126097203: 126097211
37 OAT OAT, ALU INS insertion Pathogenic
38 OAT NM_000274.3(OAT): c.550G> A (p.Ala184Thr) single nucleotide variant Pathogenic rs121965050 GRCh37 Chromosome 10, 126094103: 126094103
39 OAT NM_000274.3(OAT): c.550G> A (p.Ala184Thr) single nucleotide variant Pathogenic rs121965050 GRCh38 Chromosome 10, 124405534: 124405534
40 OAT NM_000274.3(OAT): c.722C> T (p.Pro241Leu) single nucleotide variant Likely pathogenic rs121965051 GRCh37 Chromosome 10, 126092416: 126092416
41 OAT NM_000274.3(OAT): c.722C> T (p.Pro241Leu) single nucleotide variant Likely pathogenic rs121965051 GRCh38 Chromosome 10, 124403847: 124403847
42 OAT NM_000274.3(OAT): c.749G> C (p.Arg250Pro) single nucleotide variant Pathogenic rs121965052 GRCh37 Chromosome 10, 126092389: 126092389
43 OAT NM_000274.3(OAT): c.749G> C (p.Arg250Pro) single nucleotide variant Pathogenic rs121965052 GRCh38 Chromosome 10, 124403820: 124403820
44 OAT NM_000274.3(OAT): c.1058G> A (p.Gly353Asp) single nucleotide variant Pathogenic rs121965053 GRCh37 Chromosome 10, 126089510: 126089510
45 OAT NM_000274.3(OAT): c.1058G> A (p.Gly353Asp) single nucleotide variant Pathogenic rs121965053 GRCh38 Chromosome 10, 124400941: 124400941
46 OAT NM_000274.3(OAT): c.1172G> A (p.Trp391Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833596 GRCh37 Chromosome 10, 126086659: 126086659
47 OAT NM_000274.3(OAT): c.1172G> A (p.Trp391Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833596 GRCh38 Chromosome 10, 124398090: 124398090
48 OAT NM_000274.3(OAT): c.1180T> C (p.Cys394Arg) single nucleotide variant Pathogenic rs121965054 GRCh37 Chromosome 10, 126086651: 126086651
49 OAT NM_000274.3(OAT): c.1180T> C (p.Cys394Arg) single nucleotide variant Pathogenic rs121965054 GRCh38 Chromosome 10, 124398082: 124398082
50 OAT NM_000274.3(OAT): c.1201G> T (p.Gly401Ter) single nucleotide variant Pathogenic rs121965055 GRCh37 Chromosome 10, 126086630: 126086630

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 11.22 OAT PYCR1
2
Show member pathways
10.91 OAT PYCR1
3
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10.57 OAT PYCR1
4
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10 OAT PYCR1

GO Terms for Gyrate Atrophy of Choroid and Retina

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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