MCID: ORN004
MIFTS: 16

Ornithinemia

Categories: Rare diseases

Aliases & Classifications for Ornithinemia

MalaCards integrated aliases for Ornithinemia:

Name: Ornithinemia 54
Hyperornithinemia 74

Classifications:



External Ids:

UMLS 74 C0599035

Summaries for Ornithinemia

MalaCards based summary : Ornithinemia, also known as hyperornithinemia, is related to gyrate atrophy of choroid and retina. An important gene associated with Ornithinemia is OAT (Ornithine Aminotransferase). The drugs Pyridoxine and Pyridoxal Phosphate have been mentioned in the context of this disorder. Affiliated tissues include retina, brain and liver.

Related Diseases for Ornithinemia

Diseases related to Ornithinemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gyrate atrophy of choroid and retina 11.8

Symptoms & Phenotypes for Ornithinemia

Drugs & Therapeutics for Ornithinemia

Drugs for Ornithinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Gyrate Atrophy of the Choroid and Retina Completed NCT00001166

Search NIH Clinical Center for Ornithinemia

Genetic Tests for Ornithinemia

Anatomical Context for Ornithinemia

MalaCards organs/tissues related to Ornithinemia:

42
Retina, Brain, Liver, Skin, Cerebellum

Publications for Ornithinemia

Articles related to Ornithinemia:

(show top 50) (show all 75)
# Title Authors Year
1
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia. ( 30187369 )
2019
2
Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria. ( 29844061 )
2018
3
Lactate/pyruvate in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 30058227 )
2018
4
Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report. ( 30243302 )
2018
5
Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare association. ( 25411929 )
2015
6
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 25874378 )
2015
7
Ornithine In Vivo Administration Disrupts Redox Homeostasis and Decreases Synaptic Na(+), K (+)-ATPase Activity in Cerebellum of Adolescent Rats: Implications for the Pathogenesis of Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome. ( 25772141 )
2015
8
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition. ( 23247599 )
2013
9
Impairment of brain redox homeostasis caused by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in vivo. ( 22798168 )
2012
10
Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications. ( 23430880 )
2012
11
Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6. ( 22698901 )
2011
12
Dual mechanism of brain damage induced in vivo by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 21059345 )
2011
13
Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan. ( 20574716 )
2010
14
Evidence that the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome induce oxidative stress in brain of young rats. ( 19683047 )
2009
15
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. ( 19242930 )
2009
16
The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. ( 19287344 )
2009
17
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis. ( 17825324 )
2008
18
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure. ( 18376250 )
2008
19
Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report. ( 17565677 )
2007
20
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. ( 16940241 )
2006
21
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. ( 14759633 )
2004
22
Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. ( 12948741 )
2003
23
Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia. ( 12221166 )
2002
24
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 11552031 )
2001
25
Conscientious metabolic monitoring on a patient with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome undergoing anaesthesia. ( 11764411 )
2001
26
Hyperornithinemia associated with gyrate atrophy of the choroid and retina in a child with myopia. ( 11521006 )
2001
27
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. ( 11668643 )
2001
28
Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. ( 10805333 )
2000
29
Reduced brain creatine in gyrate atrophy of the choroid and retina with hyperornithinemia. ( 10430418 )
1999
30
Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome. ( 9329423 )
1997
31
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome. Ultrastructural changes of mitochondria in cultured dermal fibroblasts of three patients. ( 8739474 )
1996
32
Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome. ( 8838382 )
1995
33
Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy. ( 1469525 )
1992
34
Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients. ( 1432421 )
1992
35
Hyperornithinemia, hyperammonemia and homocitrullinuria--a case report and study of ornithine metabolism using in vivo deuterium labelling. ( 1790616 )
1991
36
Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria). ( 2288388 )
1990
37
Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. ( 2222247 )
1990
38
Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. ( 2929667 )
1989
39
Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 3407856 )
1988
40
Biochemical analysis of decreased ornithine transport activity in the liver mitochondria from patients with hyperornithinemia, hyperammonemia and homocitrullinuria. ( 3334877 )
1988
41
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement. ( 3116497 )
1987
42
The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements. ( 3652557 )
1987
43
Possible pathogenetic mechanism in hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. ( 3580547 )
1987
44
Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study. ( 3670619 )
1987
45
Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria). ( 3960284 )
1986
46
Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 4080446 )
1985
47
Gamma-glutamylornithine excretion in patients with hyperornithinemia. ( 6547887 )
1984
48
Bilateral keratoconus in a patient with gyrate atrophy and hyperornithinemia. ( 6846463 )
1983
49
Mass screening of urea cycle diseases: a new mass screening method of hyperornithinemia by using two coupling enzymes. ( 6648969 )
1983
50
Hyperornithinemia, gyrate atrophy, and ornithine ketoacid transaminase. ( 7164910 )
1982

Variations for Ornithinemia

Expression for Ornithinemia

Search GEO for disease gene expression data for Ornithinemia.

Pathways for Ornithinemia

GO Terms for Ornithinemia

Sources for Ornithinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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