MCID: DSR020
MIFTS: 9

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 59
Abnormality of Ornithine Metabolism 6

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

ICD10 33 E72.4
ICD10 via Orphanet 34 E72.4
UMLS via Orphanet 73 C0342690
Orphanet 59 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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 OTC NM_000531.6(OTC): c.540+265G> A single nucleotide variant Pathogenic 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 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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