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.
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
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