C1QTNF3-AMACR gene related symptoms and diseases

All the information presented here about the C1QTNF3-AMACR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to C1QTNF3-AMACR gene

Symptoms // Phenotype % Cases
Failure to thrive Very Common - Between 80% and 100% cases
Hepatitis Very Common - Between 80% and 100% cases
Fat malabsorption Very Common - Between 80% and 100% cases
Intrahepatic cholestasis 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 C1QTNF3-AMACR gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Steatorrhea
  • Abnormality of the coagulation cascade
  • Hyperbilirubinemia
  • Hypergonadotropic hypogonadism
  • Cholestasis
  • Single transverse palmar crease
  • Epicanthus
  • Hepatic failure

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to C1QTNF3-AMACR gene

Here you will find a list of rare diseases related to the C1QTNF3-AMACR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4


Alternate names

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 Is also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid, trihydroxycoprostanic acid in bile

Most common symptoms of BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4

  • Failure to thrive
  • Epicanthus
  • Hepatomegaly
  • Frontal bossing
  • Depressivity


More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4

SOURCES: MESH OMIM




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