MCID: IDP071
MIFTS: 10

Idiopathic Copper-Associated Cirrhosis

Categories: Liver diseases, Rare diseases

Aliases & Classifications for Idiopathic Copper-Associated Cirrhosis

MalaCards integrated aliases for Idiopathic Copper-Associated Cirrhosis:

Name: Idiopathic Copper-Associated Cirrhosis 58
Non-Wilsonian Hepatic Copper Toxicosis of Infancy and Childhood 58

Characteristics:

Orphanet epidemiological data:

58
idiopathic copper-associated cirrhosis
Age of onset: Childhood; Age of death: adolescent,late childhood;

Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

ICD10 via Orphanet 33 K74.6
Orphanet 58 ORPHA209919

Summaries for Idiopathic Copper-Associated Cirrhosis

MalaCards based summary : Idiopathic Copper-Associated Cirrhosis, also known as non-wilsonian hepatic copper toxicosis of infancy and childhood, is related to non-alcoholic fatty liver disease and liver disease. An important gene associated with Idiopathic Copper-Associated Cirrhosis is KRT8 (Keratin 8). Affiliated tissues include liver.

Related Diseases for Idiopathic Copper-Associated Cirrhosis

Diseases related to Idiopathic Copper-Associated Cirrhosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 non-alcoholic fatty liver disease 10.4
2 liver disease 10.4

Symptoms & Phenotypes for Idiopathic Copper-Associated Cirrhosis

Drugs & Therapeutics for Idiopathic Copper-Associated Cirrhosis

Search Clinical Trials , NIH Clinical Center for Idiopathic Copper-Associated Cirrhosis

Genetic Tests for Idiopathic Copper-Associated Cirrhosis

Anatomical Context for Idiopathic Copper-Associated Cirrhosis

MalaCards organs/tissues related to Idiopathic Copper-Associated Cirrhosis:

40
Liver

Publications for Idiopathic Copper-Associated Cirrhosis

Articles related to Idiopathic Copper-Associated Cirrhosis:

# Title Authors PMID Year
1
Copper-associated liver disease in North Ronaldsay sheep: a possible animal model for non-Wilsonian hepatic copper toxicosis of infancy and childhood. 61
11592108 2001

Variations for Idiopathic Copper-Associated Cirrhosis

ClinVar genetic disease variations for Idiopathic Copper-Associated Cirrhosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT8 NM_002273.4(KRT8):c.1202+1G>A SNV Pathogenic 1032045 GRCh37: 12:53292462-53292462
GRCh38: 12:52898678-52898678
2 LOC106096416 , KRT18 , KRT8 NM_000224.3(KRT18):c.206G>C (p.Gly69Ala) SNV Uncertain significance 1029724 GRCh37: 12:53343163-53343163
GRCh38: 12:52949379-52949379
3 LOC106096416 , KRT18 NM_000224.3(KRT18):c.541G>A (p.Asp181Asn) SNV Uncertain significance 1029725 GRCh37: 12:53344574-53344574
GRCh38: 12:52950790-52950790

Expression for Idiopathic Copper-Associated Cirrhosis

Search GEO for disease gene expression data for Idiopathic Copper-Associated Cirrhosis.

Pathways for Idiopathic Copper-Associated Cirrhosis

GO Terms for Idiopathic Copper-Associated Cirrhosis

Sources for Idiopathic Copper-Associated Cirrhosis

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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