MCID: ADL083
MIFTS: 8

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 60
Adult-Onset Citrullinemia Type 1 60
Late-Onset Citrullinemia Type 1 60
Late-Onset Citrullinemia Type I 60

Characteristics:

Orphanet epidemiological data:

60
adult-onset citrullinemia type i
Inheritance: Autosomal recessive; Age of onset: Adult;

Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 35 E72.2
Orphanet 60 ORPHA247573

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).

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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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