Idiopathic copper-associated cirrhosis

General Information (adopted from Orphanet):

Synonyms, Signs: Cirrhosis, Noncryptogenic, susceptibility to, included
Cirrhosis, Cryptogenic, included
ETIC, included
ICT, included
Copper-Overload Cirrhosis, included
ICC, included
Sen Syndrome, included
Indian Childhood Cirrhosis, Included
Non-Wilsonian hepatic copper toxicosis of infancy and childhood
Copper Toxicosis, Idiopathic, included
Endemic Tyrolean Infantile Cirrhosis, included
Number of Symptoms 12
OrphanetNr: 209919
OMIM Id: 215600
ICD-10: K74.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Childhood
23852284 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare parenchymatous liver disease
 -Rare hepatic disease

Comment:

ICC and ICC-like diseases clinically manifest in a child of any age though common in younger ones. Livers from children with this disease contained excess of Orcein stain positive copper binding protein (CuBP) and histochemically as well as analytically detectable copper. Analysis of pedigree charts of 20 families with an index case of ICC and of 70 families of age matched controls showed no evidence of autosomal recessive, partial sex linkage or double recessive inheritance and it was suggested that the familial predisposition to development of ICC was most likely based on a multifactorial inheritance. It was reported that copper chelation by penicillamine therapy while not having any effect on advanced cases of ICC, reduced mortality in less advanced cases by about 50 per cent with regression of hepatic morphologic and functional abnormalities. ICC (and ICC-like disease) affects infants and very young children while Wilson’s disease almost never occurs below 4 yr age and unlike the latter disease ICC is generally and quickly fatal. Also, in Wilson’s disease hepatocytic injury is neither not that severe nor has so much Mallory hyaline as in ICC which characteristically lacks the steatosis in livers of alcohol induced and Wilson’s disease. (PMID:23852284).

Symptom Information: Sort by abundance 

1
 (HPO:0001254) Lethargy 7088087 IBIS 104 / 7739
2
 (HPO:0001409) Portal hypertension 23852284 IBIS 39 / 7739
3
 (HPO:0001413) Micronodular cirrhosis 23852284 IBIS 11 / 7739
4
 (HPO:0001410) Decreased liver function 23852284 IBIS 59 / 7739
5
 (HPO:0003270) Abdominal distention 23852284 IBIS 46 / 7739
6
 (HPO:0000952) Jaundice 7088087 IBIS 105 / 7739
7
 (HPO:0001541) Ascites 23852284 IBIS 94 / 7739
8
 (HPO:0001945) Fever 7088087 IBIS 218 / 7739
9
 (HPO:0000969) Edema 23852284 IBIS 117 / 7739
10
 (OMIM) Hepatic copper increased 23852284 IBIS 2 / 7739
11
 (OMIM) Childhood cirrhosis 23852284 IBIS 1 / 7739
12
 (OMIM) Liver histopathology shows severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, 'micro-micronodular' cirrhosis, and marked deposits of copper and copper-binding protein 7088087 IBIS 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: