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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
Porphyria cutanea tarda Autosomal dominant (1) Medical history collection 2013 [91]
(2) General examination
(3) Routine Blood test
Poland’s syndrome Autosomal dominant (1) Medical history collection 2015 [92,93]
(2) Physical examination
(3) Radiological examination
(4) X-ray
(5) USG
(6) Cardiovascular system examination
(7) Alimentary system and nervous
system examination
(8) Echocardiography
Retinitis pigmentosa X-linked recessive (1) Medical history collection 2017 [62]
(2) Neurological examination
(3) Fundoscopy
Spinal muscular atrophy Autosomal recessive (1) Medical history collection 2019 [94]
type 3 (2) Nerve examination
(3) Biochemical test
(4) EMG
(5) Muscle biopsy
Thalassemia Autosomal recessive (1) Hemoglobin electrophoresis 2005 [95-97]
(2) Complete blood count analysis
(3) Bilirubin analysis
Touraine-Solente-Gole Autosomal recessive/ (1) Physical examination 2012 [98]
syndrome dominant (2) X-ray
Turner syndrome Autosomal dominant (1) Physical examination 1984 [99,100]
(2) Karyotype test
Treacher Collins syndrome Autosomal dominant (1) Medical history collection 2008 [101]
(2) Physical examination
(3) Biochemical test
(4) X-ray
(5) Eye examination
Thrombophilia Autosomal dominant/ (1) Physical examination 2012 [102]
recessive/X-linked (2) CT angiography
(3) Biochemical tests
(4) Chest radiography
(5) Echocardiography
(6) Blood coagulation test
Ulcerative colitis Multifactorial disorder (1) Medical history collection 2013 [103]
(2) Physical examination
(3) Stool microscopy
(4) Hemoglobin test
(5) Serum albumin test
(6) Blood test
(7) Chest X-ray
(8) USG
(9) Ileocolonoscopy
(10) Colonic biopsy
Von Hippel-Lindau disease Autosomal dominant (1) Medical history collection 2012 [104]
(2) USG
(3) Biochemical test
(4) Antibody test
(5) Gastrointestinal tract endoscopy
(6) CT scan
(7) MRI
(8) Retinal examination

(Contd...)
Volume 1 Issue 1 (2022) 8 https://doi.org/10.36922/gpd.v1i1.78