Diseases of the digestive system
Diseases of liver
Autosomal recessive
5p13.2
AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614307.1.1 | United Arab Emirates | Male | Yes | Yes | Specific learning disability; Cholelithi... Specific learning disability; Cholelithiasis; Abnormal electroretinogram; Cataract  | NM_014324.5:c.877T>C | Homozygous | Autosomal, Recessive | Al-Shamsi et al. 2014; Alsalamah & Khan. 2021 | |
| 614307.1.2 | United Arab Emirates | Female | Yes | Yes | Specific learning disability; Cholelithi... Specific learning disability; Cholelithiasis; Abnormal electroretinogram; Cataract | NM_014324.5:c.877T>C | Homozygous | Autosomal, Recessive | Al-Shamsi et al. 2014; Alsalamah & Khan. 2021 | Sibling of 614307.1.... |
| 614307.1.3 | United Arab Emirates | Female | Yes | Yes | Specific learning disability; Cholelithi... Specific learning disability; Cholelithiasis; Abnormal electroretinogram; Cataract | NM_014324.5:c.877T>C | Homozygous | Autosomal, Recessive | Al-Shamsi et al. 2014; Alsalamah & Khan. 2021 | Sibling of 614307.1.... |