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 59
Acute Neonatal Citrullinemia Type 1 59
Classic Citrullinemia Type 1 59
Classic Citrullinemia Type I 59

Characteristics:

Orphanet epidemiological data:

59
acute neonatal citrullinemia type i
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Orphanet 59 ORPHA247546
ICD10 via Orphanet 34 E72.2

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:

41
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 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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