Human diseases caused due to Gene and

Chromosomal Mutations
Brain
Leukodystrophy
Mutation on Aspn gene on chromosome 17p13-ter0
Causes destruction of the white matter (myelin sheath)
of the brain
Spinal Cord
Spinal Muscular Atrophy (SMA)
Mutation of SMN1 gene on chromosome 5
Causes limited mobility and delayed gross
motor skills Thyroid
Congential hypothyroidism
Mutation of PAX8 and DUOX2 of chromosome 2 and 15
respectively
Causes Iodine deficiency

Heart
Cardiomyopathy
Lungs Mutation of TTN gene on chromosome 2
Chronic Obstructive Pulmonary Disease Causes chronic rapid heart rate leading to BP and heart
(COPD) attack
Mutation of Z allele of alpha-1 antitrypsin gene
on chromosome 14
Causes Emphysema; shortness of breath
Liver
Wilson disease
Mutation on fATP7B gene on chromosome 13
Causes Copper retention in organs, leading to organ
failure

Pancreas
Hereditary pancreatitis
Mutation of PRSS1 gene on chromosome 7
Causes premature conversion of trypsin

Small Intestine
Congential Atresia of Small Intestine
Mutation of TSHZ1 Gene( 614427) on chromosome
18q22
Causes decreased intestinal perfusion

Large intestine
Hirschsprung’s disease
Mutation of RET gene on chromosome 10
Causes problems in passing stool and enterocolotis

Poster
done by
Ranga
Rajan Tulsi
References
5BCB
[1] Rarediseases.info.nih.gov. 2020. Atresia Of Small Intestine | Genetic And Rare Diseases Information Center (GARD) – An
1840748 NCATS Program. [online] Available at: <https://rarediseases.info.nih.gov/diseases/140/atresia-of-small-intestine> [Accessed
22 October 2020].

[2] Topics, H., 2020. Genetic Brain Disorders | Medlineplus. [online] Medlineplus.gov. Available at:
<https://medlineplus.gov/geneticbraindisorders.html> [Accessed 22 October 2020].