1. Mendelian
  2. Rare Disease Genes
  3. UTP4

UTP4 gene related symptoms and diseases

All the information presented here about the UTP4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to UTP4 gene

Symptoms // Phenotype % Cases
Jaundice Very Common - Between 80% and 100% cases
Cirrhosis Very Common - Between 80% and 100% cases
Cholestasis Very Common - Between 80% and 100% cases
Portal hypertension Very Common - Between 80% and 100% cases
Prolonged neonatal jaundice Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with UTP4 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Biliary cirrhosis

Rare diseases associated to UTP4 gene

Here you will find a list of rare diseases related to the UTP4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS

Description

Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence.

Most common symptoms of HEREDITARY NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS

  • Jaundice
  • Cirrhosis
  • Cholestasis
  • Portal hypertension
  • Prolonged neonatal jaundice


More info about HEREDITARY NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS

SOURCES: MESH ORPHANET OMIM


Potential gene panels for UTP4 gene

Hepatic and pancreatic diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B

More info about this panel
Germany.

CIRH1A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the UTP4 gene.

More info about this panel
United States.

UTP4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the UTP4 gene.

More info about this panel
United States.

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