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 and choroiditis. An important gene associated with Ornithinemia is OAT (Ornithine Aminotransferase). The drugs Ornithine and Pyridoxine have been mentioned in the context of this disorder. Affiliated tissues include retina.

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 11.6
2 choroiditis 9.9
3 cerebritis 9.9

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
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
3
Pyridoxal Approved, Nutraceutical 66-72-8 1050
4
Pyridoxal Phosphate Approved, Investigational, Nutraceutical 54-47-7 1051
5 Vitamin B 6
6 arginine Nutraceutical

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

Publications for Ornithinemia

Articles related to Ornithinemia:

# Title Authors Year
1
Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report. ( 17565677 )
2007
2
Hyperammonemia (ornithinemia) presenting as a unilateral cerebral mass lesion. ( 959986 )
1976
3
Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport. ( 4825593 )
1974

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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