| Symbol
| NAIC
|
| Location
| 16q22.1
|
| Name
|
north america indian childhood cirrhosis |
| Corresponding gene
|
UTP4
|
| Other symbol(s)
| CIRH1A
|
| Main clinical features
|
transient neonatal jaundice that progresses to biliary cirrhosis requiring hepatic transplantation in childhood or early adulthood
biochemical and histopathologic features of the disease suggest involvement of the bile ducts rather than of the bile canaliculi
elevated gamma-glutamyltransferase and alkaline phosphatase levels and, typically, marked fibrosis around portal bile ducts |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| digestive tract/liver and annex |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| missense
|
| abnormal protein/loss of function
| homozygous for R565W mutation, missense mutation in the C-terminus (PMID: 20385600) )
| |
| Remark(s)
|
. may be caused by dysfunctional pre-ribosome assembly due to the loss of an interaction between the C-terminus of CIRH1A and another small subunit processome protein (PMID: 20385600)) |