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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
Mitochondrial Mitochondrial inheritance (1) Medical history collection 2009 [78]
encephalomyopathy, lactic (2) Neurological examination
acidosis, and stroke like (3) Funduscopic examination
syndrome (MELAS) (4) Blood lactate test
(5) USG
(6) EEG
(7) CT scan
(8) ECG
(9) Muscle biopsy
Myotonic muscle disorders Autosomal dominant (1) Medical history collection 2008 [79]
(2) Physical examination
(3) Routine nerve conduction study
(4) EMG
Neurocutaneous syndromes Autosomal dominant Examinations of: 2019 [80]
(1) Major features: Skin, brain, and eye
lesions
Tumors in the heart, lungs, and kidneys
(2) Minor features: Bone cysts, rectal
polyps, rectal polyps, dental enamel
pits, gingival fibromas, non-renal
hamartomas, achromatic retinal
patches, confetti skin lesions, and
multiple renal cysts
Noonan’s Syndrome Autosomal dominant (1) Medical history collection 2009 [81]
(2) Blood tests
(3) Routine urine test
(4) IgE test
(5) Echocardiogram
Osteogenesis imperfecta Autosomal dominant (1) Medical history collection 2014 [82]
(2) X-ray
Osteopetrosis Autosomal dominant (1) Medical history collection 1996 [83]
(2) Physical examination
(3) Blood test
(4) X-ray
(5) USG
Pachydermoperiostosis Autosomal dominant (1) Medical history collection 2012 [84-86]
(2) Physical examination
(3) Biochemical test
(4) X-ray
(5) NCV test
(6) MRI of the brain
(7) Examination of the musculoskeletal
system
(8) Radiography of the limbs
(9) Skin biopsy
Peutz-Jeghers’ syndrome Autosomal dominant (1) Medical history collection 2010 [87-89]
(2) Gastrointestinal examination
(3) Blood test
(4) OBT
(5) USG
(6) Upper gastrointestinal endoscopy
(7) Barium meal test
Parkinson’s disease Autosomal dominant (1) Medical history collection 2020 [90]
(2) Physical examination
(Contd...)

Volume 1 Issue 1 (2022) 7 https://doi.org/10.36922/gpd.v1i1.78