GACR
MCID: GYR004
MIFTS: 57

Gyrate Atrophy of Choroid and Retina (GACR)

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 56 52 58 73 37
Gyrate Atrophy 56 12 74 52 25 73 54 6 43 15 71
Ornithine Aminotransferase Deficiency 56 74 52 25 58 73 29 54 6
Hoga 56 52 25 58 73
Hyperornithinemia with Gyrate Atrophy of Choroid and Retina 56 52 25 73
Oat Deficiency 56 52 25 73
Okt Deficiency 56 52 25 73
Ornithine Keto Acid Aminotransferase Deficiency 56 25 73
Ornithine-Delta-Aminotransferase Deficiency 56 25 73
Hyperornithinemia 52 58 71
Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia 56 13
Hyperornithinemia-Gyrate Atrophy of Choroid and Retina Syndrome 52 58
Fuchs Atrophia Gyrata Chorioideae Et Retinae 52 71
Gyrate Atrophy of the Choroid and Retina 74 25
Ornithinemia with Gyrate Atrophy 12 25
Gyrate Atrophy of the Retina 12 74
Gacr 56 73
Hyperornithinemia with Gyrate Atrophy of Choroid and Retina; Hoga 56
Ornithine Ketoacid Aminotransferase Deficiency 52
Gyrate Atrophy of the Choroid and/or Retina 12
Atrophy, Gyrate, of Choroid and Retina 39
Girate Atrophy of the Retina 52

Characteristics:

Orphanet epidemiological data:

58
gyrate atrophy of choroid and retina
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy,stillbirth;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
visual symptoms present by late childhood


HPO:

31
gyrate atrophy of choroid and retina:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:1415
OMIM 56 258870
MeSH 43 D015799
NCIt 49 C84744
SNOMED-CT 67 314467007
MESH via Orphanet 44 C537132
ICD10 via Orphanet 33 E72.4
UMLS via Orphanet 72 C0018425 C0599035
Orphanet 58 ORPHA414
UMLS 71 C0018425 C0599035 C2931721

Summaries for Gyrate Atrophy of Choroid and Retina

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. Most people with gyrate atrophy have no symptoms other than vision loss, but some have additional features of the disorder. Occasionally, newborns with gyrate atrophy develop excess ammonia in the blood (hyperammonemia), which may lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia associated with gyrate atrophy generally responds quickly to treatment and does not recur after the newborn period. Gyrate atrophy usually does not affect intelligence; however, abnormalities may be observed in brain imaging or other neurological testing. In some cases, mild to moderate intellectual disability is associated with gyrate atrophy. Gyrate atrophy may also cause disturbances in the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). In some people with the disorder these abnormalities lead to numbness, tingling, or pain in the hands or feet, while in others they are detectable only by electrical testing of the nerve impulses. In some people with gyrate atrophy, a particular type of muscle fibers (type II fibers) break down over time. While this muscle abnormality usually causes no symptoms, it may result in mild weakness.

MalaCards based summary : Gyrate Atrophy of Choroid and Retina, also known as gyrate atrophy, is related to hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and nonsyndromic retinitis pigmentosa. An important gene associated with Gyrate Atrophy of Choroid and Retina is OAT (Ornithine Aminotransferase), and among its related pathways/superpathways are the visual cycle I (vertebrates) and Arginine and proline metabolism. The drugs Leucine and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and brain, and related phenotypes are progressive visual loss and myopia

NIH Rare Diseases : 52 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.

OMIM : 56 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 : 73 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 : 74 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 top 50) (show all 161)
# Related Disease Score Top Affiliating Genes
1 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 30.7 SLC25A15 OAT
2 nonsyndromic retinitis pigmentosa 30.5 MAK ABCA4
3 optic disk drusen 30.5 RPGR RHO
4 retinitis pigmentosa 34 30.4 RPGR RP9
5 ornithine transcarbamylase deficiency, hyperammonemia due to 30.2 SLC25A15 RPGR
6 yemenite deaf-blind hypopigmentation syndrome 30.1 RPGR RPE65 RHO CHM ABCA4
7 choroideremia 30.1 RPGR RPE65 RHO CHM ABCA4
8 pathologic nystagmus 30.0 RPGR RPE65 RHO ABCA4
9 scotoma 29.8 RPGR RPE65 RHO ABCA4
10 night blindness 29.7 RPGR RPE65 RHO PRPH2 CHM ABCA4
11 argininemia 29.7 SLC25A15 GAMT
12 hereditary retinal dystrophy 29.6 RPE65 RHO PRPH2 CFHR2 ABCA4
13 retinitis 29.5 RPGR RPE65 RP9 RHO PRPH2 ABCA4
14 creatine deficiency syndromes 29.4 SLC6A8 GATM GAMT
15 cerebral creatine deficiency syndrome 2 29.2 SLC6A8 OAT GATM GAMT
16 eye disease 29.1 VSX2 RPGR RPE65 RHO PRPH2 OAT
17 retinal disease 28.9 RPGR RPE65 RP9 RHO PRPH2 CFHR2
18 retinal degeneration 28.7 RPGR RPE65 RHO PRPH2 PCARE OAT
19 retinitis pigmentosa 27.9 VSX2 RPGR RPE65 RP9 RHO PRPH2
20 ornithinemia 10.6
21 macular retinal edema 10.6
22 joint laxity, short stature, and myopia 10.5
23 myopia 10.5
24 cataract 10.5
25 hyperprolinemia, type i 10.4 PYCR1 OAT
26 myopathy 10.4
27 urea cycle disorder 10.3
28 spastic paraparesis 10.3
29 neu-laxova syndrome 2 10.3 PYCR1 OAT
30 partial central choroid dystrophy 10.3 PRPH2 ABCA4
31 hereditary choroidal atrophy 10.3 PRPH2 ABCA4
32 retinal drusen 10.3 CFHR2 ABCA4
33 leber congenital amaurosis 10 10.3 RPGR RPE65
34 retinitis pigmentosa 37 10.3 RPGR RP9
35 retinitis pigmentosa 14 10.3 RPGR RP9
36 retinitis pigmentosa 6 10.3 RPGR RP9
37 ocular motor apraxia 10.3
38 ataxia and polyneuropathy, adult-onset 10.3
39 apraxia 10.2
40 leukemia 10.2
41 solar retinopathy 10.2 RHO ABCA4
42 night blindness, congenital stationary, autosomal dominant 2 10.2
43 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
44 cystinuria 10.2
45 iminoglycinuria 10.2
46 astigmatism 10.2
47 macular holes 10.2
48 refractive error 10.2
49 retinitis pigmentosa 17 10.2 RPGR RP9
50 pattern dystrophy 10.2 RHO PRPH2

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:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000529
2 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
3 chorioretinal atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000533
4 hyperornithinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012026
5 blindness 58 31 frequent (33%) Frequent (79-30%) HP:0000618
6 aminoaciduria 58 31 frequent (33%) Frequent (79-30%) HP:0003355
7 constriction of peripheral visual field 58 31 frequent (33%) Frequent (79-30%) HP:0001133
8 abnormal macular morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001103
9 progressive night blindness 58 31 frequent (33%) Frequent (79-30%) HP:0007675
10 subcapsular cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000523
11 chorioretinal hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0040031
12 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
13 seizure 31 occasional (7.5%) HP:0001250
14 abnormal hair morphology 31 occasional (7.5%) HP:0001595
15 cataract 58 Frequent (79-30%)
16 seizures 58 Occasional (29-5%)
17 abnormality of metabolism/homeostasis 31 HP:0001939
18 emg abnormality 31 HP:0003457
19 nyctalopia 31 HP:0000662
20 abnormality of the hair 58 Occasional (29-5%)
21 proximal muscle weakness 31 HP:0003701
22 posterior subcapsular cataract 31 HP:0007787
23 chorioretinal degeneration 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Gyrate Atrophy of Choroid and Retina:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.93 ABCA4 CHM GATM OAT PCARE PRPH2
2 pigmentation MP:0001186 9.65 ABCA4 CHM OAT PCARE PRPH2 RHO
3 vision/eye MP:0005391 9.28 ABCA4 CHM OAT PCARE PRPH2 RHO

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 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Leucine Investigational, Nutraceutical Phase 1, Phase 2 61-90-5 6106
2
Ornithine Approved, Nutraceutical Phase 1 70-26-8, 3184-13-2 6262
3
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
4
Pyridoxal Phosphate Approved, Investigational, Nutraceutical 54-47-7 1051
5 Vitamin B 6
6
Pyridoxal Experimental, Nutraceutical 66-72-8 1050
7
Arginine Investigational, Nutraceutical 74-79-3 6322

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Influence of Hydroxyproline Plasma Concentration on Its Metabolism to Oxalate Completed NCT02038543 Phase 1, Phase 2 Hydroxyproline and Leucine
2 Phase I Study in the Safety and Efficacy of Transduced Keratinocytes for Possible Treatment of Gyrate Atrophy Completed NCT00001735 Phase 1
3 The Diagnosis, Pathogenesis and Treatment of Gyrate Atrophy of the Choroid and Retina Completed NCT00001166
4 Foundation Fighting Blindness Registry, My Retina Tracker 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:

40
Retina, Eye, Brain, Testes, Spinal Cord, Skeletal Muscle, Skin

Publications for Gyrate Atrophy of Choroid and Retina

Articles related to Gyrate Atrophy of Choroid and Retina:

(show top 50) (show all 356)
# Title Authors PMID Year
1
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. 61 56 6
1737786 1992
2
An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. 6 56 61
3339136 1988
3
Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration. 54 56 61
7550347 1995
4
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. 61 6 54
7668253 1995
5
Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy. 6 61 54
1609808 1992
6
A deletion in the ornithine aminotransferase gene in gyrate atrophy. 61 54 6
1618792 1992
7
Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy. 61 6 54
2220818 1990
8
Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia. 61 56
12221166 2002
9
Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children. 61 56
11831916 2002
10
Assessment of visual function in patients with gyrate atrophy who are considered candidates for gene replacement. 61 56
11346393 2001
11
Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina. 61 56
10655512 2000
12
Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia. 56 61
10604138 1999
13
Skeletal muscle of patients with gyrate atrophy of the choroid and retina and hyperornithinaemia in ultralow-field magnetic resonance imaging and computed tomography. 56 61
8982944 1996
14
The skipping of constitutive exons in vivo induced by nonsense mutations. 61 6
8430317 1993
15
Detection of point mutations associated with genetic diseases by an exon scanning technique. 61 6
2276738 1990
16
Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy. 61 6
2793865 1989
17
Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6. 61 56
2916580 1989
18
Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina. 61 6
2916581 1989
19
Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina. 61 56
3195590 1988
20
Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene. 61 6
3170546 1988
21
Expression defect of ornithine aminotransferase gene in gyrate atrophy. 6 61
3417397 1988
22
Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. 61 6
3375240 1988
23
The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy. 61 56
2893548 1988
24
Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2. 61 56
3596985 1987
25
Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina. 56 61
3939534 1985
26
Cataract in gyrate atrophy: clinical and morphologic studies. 56 61
6832916 1983
27
Free amino acid concentrations in blood cells of two brothers with gyrate atrophy of the choroid and retina with hyperornithinaemia. 56 61
6422152 1983
28
Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics. 56 61
7240420 1981
29
Hyperornithinaemia and gyrate atrophy of the retina: improvement of vision during treatment with a low-arginine diet. 56 61
6111630 1981
30
Gyrate atrophy of the choroid and retina: improved visual function following reduction of plasma ornithine by diet. 61 56
7444439 1980
31
Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine. 56 61
7419715 1980
32
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6. 61 56
7395865 1980
33
Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet. 61 56
7356686 1980
34
Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle. 56 61
572946 1979
35
Hyperornithinemia and gyrate atrophy of choroid and retina. Report of a case. 61 56
711502 1978
36
Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase. 61 56
635581 1978
37
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. 56 61
655164 1978
38
Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts. 61 56
917049 1977
39
Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes. 61 56
270753 1977
40
Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia. 61 56
4457103 1974
41
Raised plasma-ornithine and gyrate atrophy of the choroid and retina. 56 61
4122112 1973
42
Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. 6
1612597 1992
43
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. 6
1992472 1991
44
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. 6
2565038 1989
45
[Apropos of gene carriers of Fuch's atrophia gyrata choroideae et retinae]. 56
5930170 1966
46
[Conductors of the gene of Fuchs' atrophia gyrata chorioideae et retinae (Alder's anomaly)]. 56
13824432 1960
47
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency. 61 54
19345633 2009
48
Osteoporosis associated with gyrate atrophy: a case report. 61 54
16906410 2006
49
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D. 54 61
15750329 2005
50
[Gyrate atrophy of late disclosure]. 61 54
11913240 2001

Variations for Gyrate Atrophy of Choroid and Retina

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

6 (show top 50) (show all 137) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OAT NM_001171814.1(OAT):c.-215-3158_-215-3155dupduplication Pathogenic 456522 rs1554867854 10:126100688-126100689 10:124412119-124412120
2 OAT NM_000274.3(OAT):c.1192C>T (p.Arg398Ter)SNV Pathogenic 456519 rs200068769 10:126086639-126086639 10:124398070-124398070
3 OAT NM_000274.4(OAT):c.900+1G>ASNV Pathogenic 812363 10:126091495-126091495 10:124402926-124402926
4 OAT NM_000274.3(OAT):c.899C>T (p.Pro300Leu)SNV Pathogenic 599083 rs759979499 10:126091497-126091497 10:124402928-124402928
5 OAT NM_001171814.1(OAT):c.-215-3044T>CSNV Pathogenic 150 rs121965037 10:126100578-126100578 10:124412009-124412009
6 OAT NM_001171814.1(OAT):c.-137G>TSNV Pathogenic 151 rs121965038 10:126097456-126097456 10:124408887-124408887
7 OAT NM_001322971.2(OAT):c.200-3038G>TSNV Pathogenic 152 rs121965039 10:126097170-126097170 10:124408601-124408601
8 OAT NM_001322974.2(OAT):c.-62G>CSNV Pathogenic 153 rs121965040 10:126094114-126094114 10:124405545-124405545
9 OAT NM_000274.3(OAT):c.808G>C (p.Ala270Pro)SNV Pathogenic 154 rs121965041 10:126091588-126091588 10:124403019-124403019
10 OAT NM_000274.3(OAT):c.812G>A (p.Arg271Lys)SNV Pathogenic 155 rs121965042 10:126091584-126091584 10:124403015-124403015
11 OAT NM_000274.3(OAT):c.1205T>C (p.Leu402Pro)SNV Pathogenic 156 rs121965043 10:126086626-126086626 10:124398057-124398057
12 OAT NM_000274.3(OAT):c.1250C>T (p.Pro417Leu)SNV Pathogenic 157 rs121965044 10:126086581-126086581 10:124398012-124398012
13 OAT NM_001171814.1(OAT):c.-215-3204G>ASNV Pathogenic 146 rs121965034 10:126100738-126100738 10:124412169-124412169
14 OAT NM_001171814.1(OAT):c.-215-3048deldeletion Pathogenic 147 rs386833599 10:126100582-126100582 10:124412013-124412013
15 OAT NM_001322974.2(OAT):c.-51_-49deldeletion Pathogenic 148 rs121965035 10:126094101-126094103 10:124405532-124405534
16 OAT NM_000274.3(OAT):c.734A>G (p.Tyr245Cys)SNV Pathogenic 160 rs121965046 10:126092404-126092404 10:124403835-124403835
17 OAT NM_001171814.1(OAT):c.-215-3045C>ASNV Pathogenic 163 rs121965048 10:126100579-126100579 10:124412010-124412010
18 OAT NM_000274.3(OAT):c.955C>T (p.His319Tyr)SNV Pathogenic 164 rs121965049 10:126090354-126090354 10:124401785-124401785
19 OAT OAT, ALU INSinsertion Pathogenic 166
20 OAT NM_001322974.2(OAT):c.-51G>ASNV Pathogenic 167 rs121965050 10:126094103-126094103 10:124405534-124405534
21 OAT NM_000274.3(OAT):c.1180T>C (p.Cys394Arg)SNV Pathogenic 172 rs121965054 10:126086651-126086651 10:124398082-124398082
22 OAT NM_000274.3(OAT):c.1201G>T (p.Gly401Ter)SNV Pathogenic 173 rs121965055 10:126086630-126086630 10:124398061-124398061
23 OAT NC_000010.11:g.(124404664_124404669)_(124404736_124405741)deldeletion Pathogenic 174 10:126093233-126094310 10:124404664-124405741
24 OAT NM_000274.3(OAT):c.627T>A (p.Tyr209Ter)SNV Pathogenic 175 rs121965056 10:126094026-126094026 10:124405457-124405457
25 OAT NM_001322974.2(OAT):c.-68G>ASNV Pathogenic 179 rs267606923 10:126094120-126094120 10:124405551-124405551
26 OAT NM_000274.3(OAT):c.824G>A (p.Trp275Ter)SNV Pathogenic 180 rs267606924 10:126091572-126091572 10:124403003-124403003
27 OAT NM_001171814.1(OAT):c.-147C>GSNV Pathogenic 182 rs121965060 10:126097466-126097466 10:124408897-124408897
28 OAT NM_001322974.2(OAT):c.-5C>ASNV Pathogenic 183 rs267606925 10:126094057-126094057 10:124405488-124405488
29 OAT NM_000274.3(OAT):c.749G>C (p.Arg250Pro)SNV Pathogenic 169 rs121965052 10:126092389-126092389 10:124403820-124403820
30 OAT NM_000274.3(OAT):c.1058G>A (p.Gly353Asp)SNV Pathogenic 170 rs121965053 10:126089510-126089510 10:124400941-124400941
31 OAT NM_000274.3(OAT):c.1276C>T (p.Arg426Ter)SNV Pathogenic 177 rs121965058 10:126086555-126086555 10:124397986-124397986
32 OAT NM_000274.3(OAT):c.1172G>A (p.Trp391Ter)SNV Pathogenic/Likely pathogenic 171 rs386833596 10:126086659-126086659 10:124398090-124398090
33 OAT NM_000274.3(OAT):c.994G>A (p.Val332Met)SNV Pathogenic/Likely pathogenic 162 rs121965047 10:126090315-126090315 10:124401746-124401746
34 OAT NM_000274.3(OAT):c.897C>G (p.Tyr299Ter)SNV Pathogenic/Likely pathogenic 176 rs121965057 10:126091499-126091499 10:124402930-124402930
35 OAT NM_000274.4(OAT):c.425-4_429deldeletion Pathogenic/Likely pathogenic 165 rs386833609 10:126097202-126097210 10:124408633-124408641
36 OAT NM_000274.3(OAT):c.772-1G>ASNV Pathogenic/Likely pathogenic 444240 rs770390524 10:126091625-126091625 10:124403056-124403056
37 OAT NM_000274.3(OAT):c.1124G>C (p.Gly375Ala)SNV Likely pathogenic 159 rs121965045 10:126089444-126089444 10:124400875-124400875
38 OAT NM_000274.3(OAT):c.1186C>T (p.Arg396Ter)SNV Likely pathogenic 149 rs121965036 10:126086645-126086645 10:124398076-124398076
39 OAT NM_000274.3(OAT):c.722C>T (p.Pro241Leu)SNV Likely pathogenic 168 rs121965051 10:126092416-126092416 10:124403847-124403847
40 OAT NM_000274.4(OAT):c.200-36_222deldeletion Likely pathogenic 571759 rs1564737136 10:126097512-126097570 10:124408943-124409001
41 OAT NM_000274.4(OAT):c.980C>G (p.Pro327Arg)SNV Likely pathogenic 829819 10:126090329-126090329 10:124401760-124401760
42 OAT NM_000274.3(OAT):c.198_199+6delinsTTAAindel Likely pathogenic 456520 rs1554867698 10:126100536-126100543 10:124411967-124411974
43 OAT NM_000274.3(OAT):c.1031del (p.Asn344fs)deletion Likely pathogenic 56111 rs386833594 10:126089537-126089537 10:124400968-124400968
44 OAT NM_000274.3(OAT):c.1118G>A (p.Gly373Glu)SNV Likely pathogenic 56112 rs386833595 10:126089450-126089450 10:124400881-124400881
45 OAT NM_000274.3(OAT):c.1181G>A (p.Cys394Tyr)SNV Likely pathogenic 56114 rs386833597 10:126086650-126086650 10:124398081-124398081
46 OAT NM_000274.3(OAT):c.1307T>A (p.Ile436Asn)SNV Likely pathogenic 56115 rs386833598 10:126086524-126086524 10:124397955-124397955
47 OAT NM_000274.3(OAT):c.199+303C>GSNV Likely pathogenic 56119 rs386833601 10:126100239-126100239 10:124411670-124411670
48 OAT NM_000274.3(OAT):c.267C>A (p.Asn89Lys)SNV Likely pathogenic 56120 rs386833602 10:126097467-126097467 10:124408898-124408898
49 OAT NM_000274.3(OAT):c.272G>A (p.Gly91Glu)SNV Likely pathogenic 56121 rs386833603 10:126097462-126097462 10:124408893-124408893
50 OAT NM_000274.3(OAT):c.311A>G (p.Gln104Arg)SNV Likely pathogenic 56122 rs386833604 10:126097423-126097423 10:124408854-124408854

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

73 (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

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
11.07 RPE65 RHO ABCA4
2
Show member pathways
11.01 PYCR1 OAT GATM GAMT
3
Show member pathways
10.3 PYCR1 OAT GATM GAMT

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 photoreceptor inner segment GO:0001917 9.26 RHO PRPH2 PCARE MAK
2 photoreceptor disc membrane GO:0097381 9.16 RHO ABCA4
3 photoreceptor outer segment GO:0001750 9.1 RPGR RHO PRPH2 PCARE MAK ABCA4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 retina development in camera-type eye GO:0060041 9.61 RPE65 RHO PRPH2
2 retinoid metabolic process GO:0001523 9.58 RPE65 RHO ABCA4
3 response to stimulus GO:0050896 9.56 VSX2 RPGR RPE65 RHO PRPH2 PCARE
4 photoreceptor cell maintenance GO:0045494 9.5 RHO MAK ABCA4
5 intraciliary transport GO:0042073 9.49 RPGR MAK
6 response to light stimulus GO:0009416 9.48 RPE65 RHO
7 phototransduction, visible light GO:0007603 9.46 RHO ABCA4
8 L-proline biosynthetic process GO:0055129 9.37 PYCR1 OAT
9 creatine metabolic process GO:0006600 9.33 SLC6A8 GATM GAMT
10 visual perception GO:0007601 9.28 VSX2 RPGR RPE65 RHO PRPH2 PCARE
11 creatine biosynthetic process GO:0006601 9.26 GATM GAMT

Sources for Gyrate Atrophy of Choroid and Retina

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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