MCID: DSR020
MIFTS: 8

Disorder of Ornithine Metabolism

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Disorder of Ornithine Metabolism

MalaCards integrated aliases for Disorder of Ornithine Metabolism:

Name: Disorder of Ornithine Metabolism 58
Abnormality of Ornithine Metabolism 6

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

ICD10 32 E72.4
ICD10 via Orphanet 33 E72.4
UMLS via Orphanet 72 C0342690
Orphanet 58 ORPHA289869

Summaries for Disorder of Ornithine Metabolism

MalaCards based summary : Disorder of Ornithine Metabolism, also known as abnormality of ornithine metabolism, is related to ornithine transcarbamylase deficiency, hyperammonemia due to and hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. An important gene associated with Disorder of Ornithine Metabolism is OTC (Ornithine Carbamoyltransferase).

Related Diseases for Disorder of Ornithine Metabolism

Diseases related to Disorder of Ornithine Metabolism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ornithine transcarbamylase deficiency, hyperammonemia due to 10.5
2 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.3
3 gyrate atrophy of choroid and retina 10.3

Symptoms & Phenotypes for Disorder of Ornithine Metabolism

Drugs & Therapeutics for Disorder of Ornithine Metabolism

Search Clinical Trials , NIH Clinical Center for Disorder of Ornithine Metabolism

Genetic Tests for Disorder of Ornithine Metabolism

Anatomical Context for Disorder of Ornithine Metabolism

Publications for Disorder of Ornithine Metabolism

Variations for Disorder of Ornithine Metabolism

ClinVar genetic disease variations for Disorder of Ornithine Metabolism:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OTC NM_000531.6(OTC):c.540+265G>ASNV Pathogenic 449382 rs1555975756 X:38260946-38260946 X:38401693-38401693

Expression for Disorder of Ornithine Metabolism

Search GEO for disease gene expression data for Disorder of Ornithine Metabolism.

Pathways for Disorder of Ornithine Metabolism

GO Terms for Disorder of Ornithine Metabolism

Sources for Disorder of Ornithine Metabolism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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