MCID: ORN004
MIFTS: 16

Ornithinemia

Categories: Rare diseases

Aliases & Classifications for Ornithinemia

MalaCards integrated aliases for Ornithinemia:

Name: Ornithinemia 53
Hyperornithinemia 73

Classifications:



External Ids:

UMLS 73 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 11.7

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:

41
Retina, Liver, Skin, Cerebellum

Publications for Ornithinemia

Articles related to Ornithinemia:

(show all 34)
# Title Authors Year
1
Lactate/pyruvate in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 30058227 )
2018
2
Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report. ( 30243302 )
2018
3
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia. ( 30187369 )
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
Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 3407856 )
1988
18
Biochemical analysis of decreased ornithine transport activity in the liver mitochondria from patients with hyperornithinemia, hyperammonemia and homocitrullinuria. ( 3334877 )
1988
19
Possible pathogenetic mechanism in hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. ( 3580547 )
1987
20
Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study. ( 3670619 )
1987
21
Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria). ( 3960284 )
1986
22
Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. ( 4080446 )
1985
23
Gamma-glutamylornithine excretion in patients with hyperornithinemia. ( 6547887 )
1984
24
Mass screening of urea cycle diseases: a new mass screening method of hyperornithinemia by using two coupling enzymes. ( 6648969 )
1983
25
Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria. ( 7055977 )
1982
26
Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics. ( 7240420 )
1981
27
Ultrastructure of hepatic mitochondria in a child with hyperornithinemia, hyperammonemia, and homocitrullinuria. ( 7228016 )
1981
28
Contact dermatitis to nickel and early cataract in two sisters with hyperornithinemia. ( 7238012 )
1981
29
3-Amino-2-piperidone in the urine of patients with hyperornithinemia. ( 679477 )
1978
30
Lysine in treatment of hyperornithinemia. ( 745643 )
1978
31
Hyperammonemia (ornithinemia) presenting as a unilateral cerebral mass lesion. ( 959986 )
1976
32
Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity. ( 166348 )
1975
33
Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport. ( 4825593 )
1974
34
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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