GACR
MCID: GYR004
MIFTS: 52

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 57 53 59 74 38
Gyrate Atrophy 57 12 75 53 25 74 55 6 44 15 72
Ornithine Aminotransferase Deficiency 57 75 53 25 59 74 29 55 6
Hoga 57 53 25 59 74
Hyperornithinemia with Gyrate Atrophy of Choroid and Retina 57 53 25 74
Oat Deficiency 57 53 25 74
Okt Deficiency 57 53 25 74
Ornithine Keto Acid Aminotransferase Deficiency 57 25 74
Ornithine-Delta-Aminotransferase Deficiency 57 25 74
Hyperornithinemia 53 59 72
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 72
Gyrate Atrophy of the Choroid and Retina 75 25
Ornithinemia with Gyrate Atrophy 12 25
Gyrate Atrophy of the Retina 12 75
Gacr 57 74
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
Girate Atrophy of the Retina 53

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:

Disease Ontology 12 DOID:1415
OMIM 57 258870
MeSH 44 D015799
NCIt 50 C84744
SNOMED-CT 68 87126009
MESH via Orphanet 45 C537132
ICD10 via Orphanet 34 E72.4
UMLS via Orphanet 73 C0018425 C0599035
Orphanet 59 ORPHA414
UMLS 72 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 cerebral creatine deficiency syndrome 2 and hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 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 leucine and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and brain, and related phenotypes are blindness and abnormality of metabolism/homeostasis

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.

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 : 74 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 : 75 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 88)
# Related Disease Score Top Affiliating Genes
1 cerebral creatine deficiency syndrome 2 29.6 OAT GATM
2 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 29.5 SLC25A15 OAT
3 ornithinemia 10.6
4 macular retinal edema 10.6
5 hydrops, lactic acidosis, and sideroblastic anemia 10.5
6 myopia 10.5
7 cataract 10.5
8 retinal degeneration 10.4
9 yemenite deaf-blind hypopigmentation syndrome 10.4
10 myopathy 10.4
11 night blindness 10.4
12 choroideremia 10.3
13 eye disease 10.3
14 urea cycle disorder 10.3
15 spastic paraparesis 10.3
16 apraxia 10.2
17 leukemia 10.2
18 ocular motor apraxia 10.2
19 ataxia and polyneuropathy, adult-onset 10.2
20 night blindness, congenital stationary, autosomal dominant 2 10.2
21 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
22 cystinuria 10.2
23 iminoglycinuria 10.2
24 astigmatism 10.2
25 refractive error 10.2
26 retinitis pigmentosa 10.2
27 autosomal recessive disease 10.2
28 neuroretinitis 10.2
29 retinitis 10.2
30 muscular atrophy 10.2
31 microphthalmia, syndromic 10 10.2
32 perioral myoclonia with absences 10.2
33 aceruloplasminemia 10.2
34 learning disability 10.2
35 spasticity 10.2
36 retinal detachment 10.1
37 strabismus 10.1
38 optic disk drusen 10.1
39 macular holes 10.1
40 mechanical strabismus 10.1
41 pathologic nystagmus 10.1
42 abdominal obesity-metabolic syndrome 1 10.0
43 argininemia 10.0
44 hyper-beta-alaninemia 10.0
45 orotic aciduria 10.0
46 brittle bone disorder 10.0
47 alacrima, achalasia, and mental retardation syndrome 10.0
48 visual epilepsy 10.0
49 gastroenteritis 10.0
50 dermatitis 10.0

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:

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

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

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 Phase 1, Phase 2
2
Ornithine Approved, Nutraceutical Phase 1 70-26-8, 3184-13-2 6262
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
7
Pyridoxal Experimental, Nutraceutical 66-72-8 1050

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:

41
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 352)
# Title Authors PMID Year
1
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. 38 8 71
1737786 1992
2
An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina. 38 8 71
3339136 1988
3
Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration. 9 38 8
7550347 1995
4
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. 9 38 71
7668253 1995
5
Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy. 9 38 71
1609808 1992
6
A deletion in the ornithine aminotransferase gene in gyrate atrophy. 9 38 71
1618792 1992
7
Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy. 9 38 71
2220818 1990
8
Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia. 38 8
12221166 2002
9
Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children. 38 8
11831916 2002
10
Assessment of visual function in patients with gyrate atrophy who are considered candidates for gene replacement. 38 8
11346393 2001
11
Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina. 38 8
10655512 2000
12
Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia. 38 8
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. 38 8
8982944 1996
14
The skipping of constitutive exons in vivo induced by nonsense mutations. 38 71
8430317 1993
15
Detection of point mutations associated with genetic diseases by an exon scanning technique. 38 71
2276738 1990
16
Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy. 38 71
2793865 1989
17
Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina. 38 71
2916581 1989
18
Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6. 38 8
2916580 1989
19
Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina. 38 8
3195590 1988
20
Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene. 38 71
3170546 1988
21
Expression defect of ornithine aminotransferase gene in gyrate atrophy. 38 71
3417397 1988
22
Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. 38 71
3375240 1988
23
The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy. 38 8
2893548 1988
24
Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2. 38 8
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. 38 8
3939534 1985
26
Cataract in gyrate atrophy: clinical and morphologic studies. 38 8
6832916 1983
27
Free amino acid concentrations in blood cells of two brothers with gyrate atrophy of the choroid and retina with hyperornithinaemia. 38 8
6422152 1983
28
Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics. 38 8
7240420 1981
29
Hyperornithinaemia and gyrate atrophy of the retina: improvement of vision during treatment with a low-arginine diet. 38 8
6111630 1981
30
Gyrate atrophy of the choroid and retina: improved visual function following reduction of plasma ornithine by diet. 38 8
7444439 1980
31
Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine. 38 8
7419715 1980
32
Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6. 38 8
7395865 1980
33
Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinemia with an arginine-deficient diet. 38 8
7356686 1980
34
Gyrate atrophy of the choroid and retina with hyperornithinemia: tubular aggregates and type 2 fiber atrophy in muscle. 38 8
572946 1979
35
Hyperornithinemia and gyrate atrophy of choroid and retina. Report of a case. 38 8
711502 1978
36
Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase. 38 8
635581 1978
37
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina. 38 8
655164 1978
38
Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes. 38 8
270753 1977
39
Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts. 38 8
917049 1977
40
Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia. 38 8
4457103 1974
41
Raised plasma-ornithine and gyrate atrophy of the choroid and retina. 38 8
4122112 1973
42
Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. 71
1612597 1992
43
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. 71
1992472 1991
44
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. 71
2565038 1989
45
[Apropos of gene carriers of Fuch's atrophia gyrata choroideae et retinae]. 8
5930170 1966
46
[Conductors of the gene of Fuchs' atrophia gyrata chorioideae et retinae (Alder's anomaly)]. 8
13824432 1960
47
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency. 9 38
19345633 2009
48
Osteoporosis associated with gyrate atrophy: a case report. 9 38
16906410 2006
49
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D. 9 38
15750329 2005
50
[Gyrate atrophy of late disclosure]. 9 38
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 102)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 OAT NM_000274.3(OAT): c.49_52dup (p.Val18fs) duplication Pathogenic rs1554867854 10:126100689-126100692 10:124412120-124412123
2 OAT NM_000274.3(OAT): c.1192C> T (p.Arg398Ter) single nucleotide variant Pathogenic rs200068769 10:126086639-126086639 10:124398070-124398070
3 OAT NM_000274.3(OAT): c.163T> C (p.Tyr55His) single nucleotide variant Pathogenic rs121965037 10:126100578-126100578 10:124412009-124412009
4 OAT NM_000274.3(OAT): c.278G> T (p.Cys93Phe) single nucleotide variant Pathogenic rs121965038 10:126097456-126097456 10:124408887-124408887
5 OAT NM_000274.3(OAT): c.461G> T (p.Arg154Leu) single nucleotide variant Pathogenic rs121965039 10:126097170-126097170 10:124408601-124408601
6 OAT NM_000274.3(OAT): c.539G> C (p.Arg180Thr) single nucleotide variant Pathogenic rs121965040 10:126094114-126094114 10:124405545-124405545
7 OAT NM_000274.3(OAT): c.808G> C (p.Ala270Pro) single nucleotide variant Pathogenic rs121965041 10:126091588-126091588 10:124403019-124403019
8 OAT NM_000274.3(OAT): c.812G> A (p.Arg271Lys) single nucleotide variant Pathogenic rs121965042 10:126091584-126091584 10:124403015-124403015
9 OAT NM_000274.3(OAT): c.1205T> C (p.Leu402Pro) single nucleotide variant Pathogenic rs121965043 10:126086626-126086626 10:124398057-124398057
10 OAT NM_000274.3(OAT): c.1250C> T (p.Pro417Leu) single nucleotide variant Pathogenic rs121965044 10:126086581-126086581 10:124398012-124398012
11 OAT NM_000274.3(OAT): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121965034 10:126100738-126100738 10:124412169-124412169
12 OAT NM_000274.3(OAT): c.159del (p.His53fs) deletion Pathogenic rs386833599 10:126100582-126100582 10:124412013-124412013
13 OAT NM_000274.3(OAT): c.550_552del (p.Ala184del) deletion Pathogenic rs121965035 10:126094101-126094103 10:124405532-124405534
14 OAT NM_000274.3(OAT): c.1124G> C (p.Gly375Ala) single nucleotide variant Pathogenic rs121965045 10:126089444-126089444 10:124400875-124400875
15 OAT NM_000274.3(OAT): c.734A> G (p.Tyr245Cys) single nucleotide variant Pathogenic rs121965046 10:126092404-126092404 10:124403835-124403835
16 OAT NM_000274.3(OAT): c.162C> A (p.Asn54Lys) single nucleotide variant Pathogenic rs121965048 10:126100579-126100579 10:124412010-124412010
17 OAT NM_000274.3(OAT): c.955C> T (p.His319Tyr) single nucleotide variant Pathogenic rs121965049 10:126090354-126090354 10:124401785-124401785
18 OAT OAT, ALU INS insertion Pathogenic
19 OAT NM_000274.3(OAT): c.550G> A (p.Ala184Thr) single nucleotide variant Pathogenic rs121965050 10:126094103-126094103 10:124405534-124405534
20 OAT NM_000274.3(OAT): c.749G> C (p.Arg250Pro) single nucleotide variant Pathogenic rs121965052 10:126092389-126092389 10:124403820-124403820
21 OAT NM_000274.3(OAT): c.1058G> A (p.Gly353Asp) single nucleotide variant Pathogenic rs121965053 10:126089510-126089510 10:124400941-124400941
22 OAT NM_000274.3(OAT): c.1180T> C (p.Cys394Arg) single nucleotide variant Pathogenic rs121965054 10:126086651-126086651 10:124398082-124398082
23 OAT NM_000274.3(OAT): c.1201G> T (p.Gly401Ter) single nucleotide variant Pathogenic rs121965055 10:126086630-126086630 10:124398061-124398061
24 OAT NC_000010.11 deletion Pathogenic 10:126093233-126094310 10:124404664-124405741
25 OAT NM_000274.3(OAT): c.627T> A (p.Tyr209Ter) single nucleotide variant Pathogenic rs121965056 10:126094026-126094026 10:124405457-124405457
26 OAT NM_000274.3(OAT): c.897C> G (p.Tyr299Ter) single nucleotide variant Pathogenic rs121965057 10:126091499-126091499 10:124402930-124402930
27 OAT NM_000274.3(OAT): c.1276C> T (p.Arg426Ter) single nucleotide variant Pathogenic rs121965058 10:126086555-126086555 10:124397986-124397986
28 OAT NM_000274.3(OAT): c.533G> A (p.Trp178Ter) single nucleotide variant Pathogenic rs267606923 10:126094120-126094120 10:124405551-124405551
29 OAT NM_000274.3(OAT): c.824G> A (p.Trp275Ter) single nucleotide variant Pathogenic rs267606924 10:126091572-126091572 10:124403003-124403003
30 OAT NM_000274.3(OAT): c.268C> G (p.Gln90Glu) single nucleotide variant Pathogenic rs121965060 10:126097466-126097466 10:124408897-124408897
31 OAT NM_000274.3(OAT): c.596C> A (p.Pro199Gln) single nucleotide variant Pathogenic rs267606925 10:126094057-126094057 10:124405488-124405488
32 OAT NM_000274.3(OAT): c.899C> T (p.Pro300Leu) single nucleotide variant Pathogenic 10:126091497-126091497 10:124402928-124402928
33 OAT NM_000274.3(OAT): c.994G> A (p.Val332Met) single nucleotide variant Pathogenic/Likely pathogenic rs121965047 10:126090315-126090315 10:124401746-124401746
34 OAT NM_000274.3(OAT): c.1172G> A (p.Trp391Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833596 10:126086659-126086659 10:124398090-124398090
35 OAT NM_000274.3(OAT): c.425_520del (p.Gly142_Ala173del) deletion Pathogenic/Likely pathogenic rs386833609 10:126097203-126097211 10:124408634-124408642
36 OAT NM_000274.3(OAT): c.1186C> T (p.Arg396Ter) single nucleotide variant Likely pathogenic rs121965036 10:126086645-126086645 10:124398076-124398076
37 OAT NM_000274.3(OAT): c.722C> T (p.Pro241Leu) single nucleotide variant Likely pathogenic rs121965051 10:126092416-126092416 10:124403847-124403847
38 OAT NM_000274.3(OAT): c.198_199+6delinsTTAA indel Likely pathogenic rs1554867698 10:126100535-126100543 10:124411966-124411974
39 OAT NM_000274.3(OAT): c.1031del (p.Asn344fs) deletion Likely pathogenic rs386833594 10:126089537-126089537 10:124400968-124400968
40 OAT NM_000274.3(OAT): c.1118G> A (p.Gly373Glu) single nucleotide variant Likely pathogenic rs386833595 10:126089450-126089450 10:124400881-124400881
41 OAT NM_000274.3(OAT): c.1181G> A (p.Cys394Tyr) single nucleotide variant Likely pathogenic rs386833597 10:126086650-126086650 10:124398081-124398081
42 OAT NM_000274.3(OAT): c.1307T> A (p.Ile436Asn) single nucleotide variant Likely pathogenic rs386833598 10:126086524-126086524 10:124397955-124397955
43 OAT NM_000274.3(OAT): c.199+303C> G single nucleotide variant Likely pathogenic rs386833601 10:126100239-126100239 10:124411670-124411670
44 OAT NM_000274.3(OAT): c.267C> A (p.Asn89Lys) single nucleotide variant Likely pathogenic rs386833602 10:126097467-126097467 10:124408898-124408898
45 OAT NM_000274.3(OAT): c.272G> A (p.Gly91Glu) single nucleotide variant Likely pathogenic rs386833603 10:126097462-126097462 10:124408893-124408893
46 OAT NM_000274.3(OAT): c.311A> G (p.Gln104Arg) single nucleotide variant Likely pathogenic rs386833604 10:126097423-126097423 10:124408854-124408854
47 OAT NM_000274.3(OAT): c.362G> A (p.Gly121Asp) single nucleotide variant Likely pathogenic rs386833605 10:126097372-126097372 10:124408803-124408803
48 OAT NM_000274.3(OAT): c.370_372GAG[1] (p.Glu125del) short repeat Likely pathogenic rs386833606 10:126097359-126097361 10:124408790-124408792
49 OAT NM_000274.3(OAT): c.381dup (p.Thr128fs) duplication Likely pathogenic rs386833607 10:126097353-126097353 10:124408784-124408784
50 OAT NM_000274.3(OAT): c.425-2A> G single nucleotide variant Likely pathogenic rs386833608 10:126097208-126097208 10:124408639-124408639

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

74 (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
13.02 SLC25A15 PYCR1 OAT GATM
2 11.22 PYCR1 OAT
3
Show member pathways
10.89 PYCR1 OAT GATM
4
Show member pathways
10.77 PYCR1 OAT
5
Show member pathways
10.18 PYCR1 OAT GATM

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 SLC25A15 PYCR1 OAT GATM

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 ROM1 OAT
2 cellular amino acid biosynthetic process GO:0008652 8.96 PYCR1 OAT
3 L-proline biosynthetic process GO:0055129 8.62 PYCR1 OAT

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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