MCID: ADL083
MIFTS: 10

Adult-Onset Citrullinemia Type I

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Adult-Onset Citrullinemia Type I

MalaCards integrated aliases for Adult-Onset Citrullinemia Type I:

Name: Adult-Onset Citrullinemia Type I 58
Adult-Onset Citrullinemia Type 1 58
Late-Onset Citrullinemia Type 1 58
Late-Onset Citrullinemia Type I 58

Characteristics:

Orphanet epidemiological data:

58
adult-onset citrullinemia type i
Inheritance: Autosomal recessive; Age of onset: Adult;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E72.2
Orphanet 58 ORPHA247573

Summaries for Adult-Onset Citrullinemia Type I

MalaCards based summary : Adult-Onset Citrullinemia Type I, also known as adult-onset citrullinemia type 1, is related to citrullinemia, classic and encephalitis. An important gene associated with Adult-Onset Citrullinemia Type I is ASS1 (Argininosuccinate Synthase 1).

Related Diseases for Adult-Onset Citrullinemia Type I

Diseases in the Citrullinemia, Type Ii, Adult-Onset family:

Adult-Onset Citrullinemia Type I

Diseases related to Adult-Onset Citrullinemia Type I via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 citrullinemia, classic 10.1
2 encephalitis 10.1

Symptoms & Phenotypes for Adult-Onset Citrullinemia Type I

Drugs & Therapeutics for Adult-Onset Citrullinemia Type I

Search Clinical Trials , NIH Clinical Center for Adult-Onset Citrullinemia Type I

Genetic Tests for Adult-Onset Citrullinemia Type I

Anatomical Context for Adult-Onset Citrullinemia Type I

Publications for Adult-Onset Citrullinemia Type I

Articles related to Adult-Onset Citrullinemia Type I:

# Title Authors PMID Year
1
Late-Onset Citrullinemia Type I: A Radiological Mimic of Herpes Encephalitis. 61
31316641 2019

Variations for Adult-Onset Citrullinemia Type I

Expression for Adult-Onset Citrullinemia Type I

Search GEO for disease gene expression data for Adult-Onset Citrullinemia Type I.

Pathways for Adult-Onset Citrullinemia Type I

GO Terms for Adult-Onset Citrullinemia Type I

Sources for Adult-Onset Citrullinemia Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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