Page 50 - GPD-1-1

Gene & Protein in Disease Bangladesh genetic disease database

Table 1. (Continued).
Genetic diseases Inheritance mode Diagnosis procedure Publishing year of Reference
the first case report
Familial chylomicronemia Autosomal recessive (1) Medical history collection 2015 [50,51]
syndrome (2) Physical examination
(3) Different blood component tests
(4) Coagulation factor test
(5) Serum examination
(6) Investigation of lipid profile
(7) USG
(8) Ophthalmoscopy
(9) Hemoglobin test
(10) Blood sugar analysis
(11) Total white blood cell count
(12) Investigation of liver and renal
function
Familial hypophosphatemic X-linked dominant (1) Medical history collection 2010 [52]
rickets (2) Physical examination
(3) X-ray
(4) Biochemical examination
Fanconi anemia Autosomal recessive (1) Medical history collection 2017 [53]
(2) Physical examination
(3) Biochemical test
(4) USG of abdomen
(5) X-ray
(6) Karyotype test
Familial hypercholesterolemia Autosomal codominant (1) Medical history collection 2012 [54,55]
monogenic disease (2) Physical examination
(3) Examination of the cardiovascular
system
(4) Biochemical test
(5) X-ray
(6) ECG
(7) Echocardiogram
Gaucher disease Autosomal recessive (1) Medical history collection 2009 [56-58]
(2) Biochemical test
(3) X-ray
(4) USG
(5) Bone marrow examination
(6) Leucocyte acid beta-
glucocerebrosidase assay
(7) Abdominal examination
(8) Serum antinuclear antibody and
Coombs test
(9) Immunochromatographic test strip
(10) Endoscopy
Glucose-6-phosphate X-linked recessive (1) Physical examination 2017 [59]
dehydrogenase deficiency (2) Hemoglobin test
(3) Hematocrit test
(4) Reticulocyte count
(5) Chest X-ray
(6) Blood smear test
(7) Bone marrow examination
(8) Cold agglutinins test
(9) Coombs test
(10) G6PD assay
(Contd...)

Volume 1 Issue 1 (2022) 5 https://doi.org/10.36922/gpd.v1i1.78