MCID: ADL083
MIFTS: 9

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 59
Adult-Onset Citrullinemia Type 1 59
Late-Onset Citrullinemia Type 1 59
Late-Onset Citrullinemia Type I 59

Characteristics:

Orphanet epidemiological data:

59
adult-onset citrullinemia type i
Inheritance: Autosomal recessive; Age of onset: Adult;

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Orphanet 59 ORPHA247573
ICD10 via Orphanet 34 E72.2

Summaries for Adult-Onset Citrullinemia Type I

MalaCards based summary : Adult-Onset Citrullinemia Type I, is also known as adult-onset citrullinemia type 1. An important gene associated with Adult-Onset Citrullinemia Type I is ASS1 (Argininosuccinate Synthase 1). Affiliated tissues include liver.

Related Diseases for Adult-Onset Citrullinemia Type I

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

Adult-Onset Citrullinemia Type I

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

MalaCards organs/tissues related to Adult-Onset Citrullinemia Type I:

41
Liver

Publications for Adult-Onset Citrullinemia Type I

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 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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