Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
10q22.1
Atypical Gaucher disease due to saposin C deficiency (GDSAPC) is caused by compound heterozygous mutation in the gene encoding saposin C on chromosome 10q22. Atypical Gaucher disease due to saposin C deficiency shows phenotypic similarities with neuronopathic Gaucher disease , which is caused by mutation in the beta-glucosidase gene. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610539.1.1 | United Arab Emirates | Male | Yes | Yes | Seizure; Hepatosplenomegaly; Growth dela... Seizure; Hepatosplenomegaly; Growth delay; Mental deterioration; Pancytopenia; Focal white matter lesions; Portal fibrosis; Osteopenia  | NM_002778.4:c.1005+1G>A | Homozygous | Autosomal, Recessive | Mohamed et al. 2022 | |
| 610539.1.2 | United Arab Emirates | Male | Yes | Yes | Growth delay; Hepatosplenomegaly; Failur... Growth delay; Hepatosplenomegaly; Failure to thrive; Poor appetite | NM_002778.4:c.1005+1G>A | Homozygous | Autosomal, Recessive | Mohamed et al. 2022 | Sibling of 610539.1.... |
| 610539.2.1 | United Arab Emirates | Female | Yes | Yes | Anemia; Thrombocytopenia; Hepatosplenome... Anemia; Thrombocytopenia; Hepatosplenomegaly; Bruising susceptibility; Cholecystitis; Cholelithiasis; Hypothyroidism | NM_002778.4:c.1005+1G>A | Homozygous | Autosomal, Recessive | Mohamed et al. 2022 | |
| 610539.2.2 | United Arab Emirates | Female | Yes | Yes | Anemia; Thrombocytopenia; Hepatosplenome... Anemia; Thrombocytopenia; Hepatosplenomegaly | NM_002778.4:c.1005+1G>A | Homozygous | Autosomal, Recessive | Mohamed et al. 2022 | Sibling of 610539.2.... |