List of Human Genetic Disorders

The genetic disorder arises in humans in the following ways:

1. By anomalies in chromosomes
2. By gene mutations in chromosomes
3. By Incompatibility of genes

Human Genetic Disorder

 1. i. Abnormalies of Autosomes

• Down Syndrome
• Edward's syndrome
• Patau's syndrome
• cri du  syndrome
• 21-monosomy
• 18-monosomy
• Myelogenous leukemia
• Alzheimer's disease

    ii. Anomalies in sex chromosomes

• Turner's syndrome
• Klinefelter's syndrome
• Super males
• Super females

2. i. Gene mutations in autosomes

 a) Dominantly inherited traits

• Achondroplasia
• Marfan's syndrome
• Huntington's chorea

Autosomal Dominant Inheritance

  b) Recessive inherited traits

• Alkaptonuria
• Phenylketonuria
• Albinism
• Tay-Sach's disease
• Gaucher's disease
• Sickle Cell Anemia
• Thalassemia
• Cystic Fibrosis (CF)

Autosomal Recessive Inheritance

 

  ii. Gene mutations in sex chromosomes (Sex-linked Disorders)

• Hemophilia
• Night blindness
• Colour blindness
• Duchenne's Muscular Dystrophy (DMD)
  

3. Disorders due to Incompatibility of genes

• ABO blood  group incompatibility
• Rh factor incompatibility