Inherited Mongenetic Diseases
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These kinds of illnesses are those produced by alterations of the DNA sequences in one gene.
Each of our genes functions as a pattern for protein production and both, genes and proteins, bring necessary information to give structure to the body and its functions. In case one gene is flawed it could lead into decreased protein amount or quality.
Not all abnormal inherited features will lead to an impact in health; in some cases it can be minimal, but the possibility exists that the alterations produce important decrease and affectation of the functions. Inherited deseases affect 1-2% of general population.
There are different kinds of monogenetic diseases:
Autosomal recessive inheritance:
Affected gene is localized in non-sexual chromosomes.
- Sickle-cell disease
- Chédiak-Higashi’s Syndrome
- Blomm’s Syndrome
- Congenic anhidrotic insensibility to pain (HSAN IV)
- Lucey-Driscoll’s Syndrome
- Werner’s Syndrome
- Refsum’s Disease
- Cystic fibrosis
- Wilson’s Disease
- Ehlers-Danlos’s Syndrome
Autosomal dominant inheritance:
A 50% of the heirs are affected by the disease.
- Hungtington disease
- Hyperostosis corticalis deformans juvenilis
- Polycystic Kidney Disease
- Caroli’s Disease
- Kallman’s Disease
- Cannon’s Disease
- Rendu-Osler-Weber’s Disease
- Currarino’s Syndrome
- Multiple Epyseal Dysplasia
- Sydenham’s Corea
- Von Hippel-Lindau’s Syndrome
- Osteogenesis imperfecta (Brittle bone disease)
- Dentatorubral-pallidoluysian atrophy
- Miotonic Steiner’s dystrophy