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 Pyridoxal Phosphate and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include retina, liver and skin.

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

Publications for Ornithinemia

Articles related to Ornithinemia:

(show all 32)
# Title Authors Year
1
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia. ( 30187369 )
2019
2
Lactate/pyruvate in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 30058227 )
2018
3
Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report. ( 30243302 )
2018
4
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
5
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition. ( 23247599 )
2013
6
Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications. ( 23430880 )
2012
7
Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report. ( 17565677 )
2007
8
Conscientious metabolic monitoring on a patient with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome undergoing anaesthesia. ( 11764411 )
2001
9
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH)-syndrome. Ultrastructural changes of mitochondria in cultured dermal fibroblasts of three patients. ( 8739474 )
1996
10
Ciliated cultured dermal fibroblasts in a patient with hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome. ( 8838382 )
1995
11
Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy. ( 1469525 )
1992
12
Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: neurologic, ophthalmologic, and neuropsychologic examination of six patients. ( 1432421 )
1992
13
Hyperornithinemia, hyperammonemia and homocitrullinuria--a case report and study of ornithine metabolism using in vivo deuterium labelling. ( 1790616 )
1991
14
Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria). ( 2288388 )
1990
15
Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. ( 2222247 )
1990
16
Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. ( 2929667 )
1989
17
Biochemical analysis of decreased ornithine transport activity in the liver mitochondria from patients with hyperornithinemia, hyperammonemia and homocitrullinuria. ( 3334877 )
1988
18
Possible pathogenetic mechanism in hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. ( 3580547 )
1987
19
Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study. ( 3670619 )
1987
20
Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria). ( 3960284 )
1986
21
Gamma-glutamylornithine excretion in patients with hyperornithinemia. ( 6547887 )
1984
22
Mass screening of urea cycle diseases: a new mass screening method of hyperornithinemia by using two coupling enzymes. ( 6648969 )
1983
23
Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria. ( 7055977 )
1982
24
Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics. ( 7240420 )
1981
25
Ultrastructure of hepatic mitochondria in a child with hyperornithinemia, hyperammonemia, and homocitrullinuria. ( 7228016 )
1981
26
Contact dermatitis to nickel and early cataract in two sisters with hyperornithinemia. ( 7238012 )
1981
27
3-Amino-2-piperidone in the urine of patients with hyperornithinemia. ( 679477 )
1978
28
Lysine in treatment of hyperornithinemia. ( 745643 )
1978
29
Hyperammonemia (ornithinemia) presenting as a unilateral cerebral mass lesion. ( 959986 )
1976
30
Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity. ( 166348 )
1975
31
Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport. ( 4825593 )
1974
32
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation. ( 5782534 )
1969

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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