MCID: ACT189
MIFTS: 10

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 60
Acute Neonatal Citrullinemia Type 1 60
Classic Citrullinemia Type 1 60
Classic Citrullinemia Type I 60

Characteristics:

Orphanet epidemiological data:

60
acute neonatal citrullinemia type i
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 35 E72.2
Orphanet 60 ORPHA247546

Summaries for Acute Neonatal Citrullinemia Type I

MalaCards based summary : Acute Neonatal Citrullinemia Type I, also known as acute neonatal citrullinemia type 1, is related to citrullinemia, classic. 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

Diseases related to Acute Neonatal Citrullinemia Type I via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 citrullinemia, classic 11.4

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:

42
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
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
51 NCIt
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
Content
Loading form....