MCID: ACT189
MIFTS: 8

Acute Neonatal Citrullinemia Type I

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

Aliases & Classifications for Acute Neonatal Citrullinemia Type I

MalaCards integrated aliases for Acute Neonatal Citrullinemia Type I:

Name: Acute Neonatal Citrullinemia Type I 58
Acute Neonatal Citrullinemia Type 1 58
Classic Citrullinemia Type 1 58
Classic Citrullinemia Type I 58

Characteristics:

Orphanet epidemiological data:

58
acute neonatal citrullinemia type i
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E72.2
Orphanet 58 ORPHA247546

Summaries for Acute Neonatal Citrullinemia Type I

MalaCards based summary : Acute Neonatal Citrullinemia Type I, is also known as acute neonatal citrullinemia type 1. An important gene associated with Acute Neonatal Citrullinemia Type I is ASS1 (Argininosuccinate Synthase 1). Affiliated tissues include liver.

Related Diseases for Acute Neonatal Citrullinemia Type I

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

Acute Neonatal Citrullinemia Type I

Symptoms & Phenotypes for Acute Neonatal Citrullinemia Type I

Drugs & Therapeutics for Acute Neonatal Citrullinemia Type I

Search Clinical Trials , NIH Clinical Center for Acute Neonatal Citrullinemia Type I

Genetic Tests for Acute Neonatal Citrullinemia Type I

Anatomical Context for Acute Neonatal Citrullinemia Type I

MalaCards organs/tissues related to Acute Neonatal Citrullinemia Type I:

40
Liver

Publications for Acute Neonatal Citrullinemia Type I

Variations for Acute Neonatal Citrullinemia Type I

Expression for Acute Neonatal Citrullinemia Type I

Search GEO for disease gene expression data for Acute Neonatal Citrullinemia Type I.

Pathways for Acute Neonatal Citrullinemia Type I

GO Terms for Acute Neonatal Citrullinemia Type I

Sources for Acute Neonatal 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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