MCID: ORN004
MIFTS: 17

Ornithinemia

Categories: Rare diseases

Aliases & Classifications for Ornithinemia

MalaCards integrated aliases for Ornithinemia:

Name: Ornithinemia 53
Hyperornithinemia 72

Classifications:



External Ids:

UMLS 72 C0599035

Summaries for Ornithinemia

MalaCards based summary : Ornithinemia, also known as hyperornithinemia, is related to gyrate atrophy of choroid and retina and carbonic anhydrase va deficiency, hyperammonemia due to. An important gene associated with Ornithinemia is OAT (Ornithine Aminotransferase). The drugs Ornithine 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 11.9
2 carbonic anhydrase va deficiency, hyperammonemia due to 10.3
3 night blindness, congenital stationary, autosomal dominant 2 10.2
4 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.2
5 yemenite deaf-blind hypopigmentation syndrome 10.2

Graphical network of the top 20 diseases related to Ornithinemia:



Diseases related to Ornithinemia

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Diagnosis, Pathogenesis and Treatment of 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:

41
Retina, Brain, Liver, Skin, Testes, Cerebellum, Ovary

Publications for Ornithinemia

Articles related to Ornithinemia:

(show top 50) (show all 184)
# Title Authors PMID Year
1
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. 38
30827756 2019
2
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature. 38
31240152 2019
3
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry. 38
30734935 2019
4
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia. 38
30187369 2019
5
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism. 38
30853934 2019
6
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina. 38
30251682 2018
7
Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report. 38
30429681 2018
8
Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report. 38
30243302 2018
9
Lactate/pyruvate in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 38
30058227 2018
10
Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria. 38
29844061 2018
11
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. 38
29094226 2018
12
Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report. 38
29649987 2018
13
[Clinical diagnosis and treatment of three cases with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome]. 38
28592010 2017
14
Ornithine and Homocitrulline Impair Mitochondrial Function, Decrease Antioxidant Defenses and Induce Cell Death in Menadione-Stressed Rat Cortical Astrocytes: Potential Mechanisms of Neurological Dysfunction in HHH Syndrome. 38
27161368 2016
15
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. 38
27215558 2016
16
Ultrawide field fluorescein angiogram in a family with gyrate atrophy and foveoschisis. 38
27433038 2016
17
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans. 38
26589310 2016
18
Argininemia and plasma arginine bioavailability - predictive factors of mortality in the severe trauma patients? 38
27582779 2016
19
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. 38
25772141 2015
20
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 38
25874378 2015
21
Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare association. 38
25411929 2015
22
Effect of long-term treatment of L-ornithine on visual function and retinal histology in the rats. 38
25744469 2015
23
A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein. 38
24721342 2014
24
Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia. 38
25187693 2014
25
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition. 38
23247599 2013
26
Disturbance of redox homeostasis by ornithine and homocitrulline in rat cerebellum: a possible mechanism of cerebellar dysfunction in HHH syndrome. 38
23806752 2013
27
Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management. 38
23829977 2013
28
Determination of plasma dibasic amino acids following trimethylsilyl-trifluoroacyl derivatization using gas chromatography-mass spectrometry. 38
23456691 2013
29
Synthesis and characterization of a stimulus-responsive L-ornithine-degrading hydrogel. 38
23142579 2013
30
Chronic postnatal ornithine administration to rats provokes learning deficit in the open field task. 38
22699997 2012
31
Impairment of brain redox homeostasis caused by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in vivo. 38
22798168 2012
32
Long-term follow-up of four patients affected by HHH syndrome. 38
22465082 2012
33
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 38
22649802 2012
34
Retinal detachment and gyrate atrophy of the choroid and retina: case report. 38
22552420 2012
35
Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications. 38
23430880 2012
36
Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1. 38
22292090 2012
37
Gyrate atrophy of choroid and retina with myopia, cataract and systemic proximal myopathy: A rare case report from rural India. 38
23382768 2012
38
Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6. 38
22698901 2011
39
New developments in the treatment of hyperammonemia: emerging use of carglumic acid. 38
21403788 2011
40
Dual mechanism of brain damage induced in vivo by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 38
21059345 2011
41
Gyrate atrophy of the choroid and retina: a case report. 38
21534348 2011
42
Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan. 38
20574716 2010
43
Orotic acid quantification in dried blood spots and biological fluids by hydrophilic interaction liquid chromatography tandem mass spectrometry. 38
20209505 2010
44
Quantitation of orotic acid in urine using isotope dilution-selected ion gas chromatography-mass spectrometry. 38
20077096 2010
45
Evidence that the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome induce oxidative stress in brain of young rats. 38
19683047 2009
46
Experimental evidence that ornithine and homocitrulline disrupt energy metabolism in brain of young rats. 38
19616520 2009
47
Identification and quantification of the atypical metabolite ornithine-lactam in human plasma by liquid chromatography-tandem mass spectrometry (LC-MS/MS). 38
19213615 2009
48
The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. 38
19287344 2009
49
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency. 38
19345633 2009
50
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. 38
19242930 2009

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
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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