Human Genetic Disorders
Maximum number of people get easily affected to different types of diseases due either to a dysfunction of their body or a lack of immunity to the onslaught of bad environmental effect on their health. Though an environment’s unfavorable effect on health is supposed to have its major role in causing several health complications and diseases, the genetic factors cant be overlooked as theirs unquestioned impact on human health has rendered even the medical science incapable to deal with health or physical complications.
A notion that human genetic disorders cant be corrected has its predominance hindering all the affected ones of different types of genetic problems from making an effort to treat their existing health complication with any hope. Also known as the genome, there are many human genetic disorders commonly known as single-gene, multi-factorial, chromosomal and mitochondrial.
The single gene human genetic disorder(also known as mendelian or monogenic), is directly associated with the mutation in the DNA. The genes in the cells help the body perform variety of functions efficiently. But any sudden mutation in the such genes affect the protein in the body causing in this way the body to get dysfunctional, a condition known as human genetic disorder. The known examples of single-gene human disorder are the cystic fibrosis, sickle cell anemia, Marfan syndrome, Huntington’s disease and hereditary hemochromatosis.
Also known as complex or polygenic, the multi-factorial human disorder leaves its harmful effect on individual’s health due to different factors including environmental and hereditary effect. Breast cancer is a live example of multi-factorial human genetic disorder. Being much complicated to be studied and analyzed, such type of human genetic disorder results into different chronic diseases like heart disease, high blood pressure, Alzheimer’s disease, arthritis, diabetes, cancer, obesity, etc. Height, color of eyes and tone of skin just like father or mother substantiates the multi-factorial human genetic disorder.
Mitochondrial human genetic disorder affects the individual due to mutations in the non-chromosomal DNA of mitochondria. Being a small round it performs cellular respiration work as well in plant and animal cells as well.
People may no doubt may be seeking to know why they have the genes causing among them human genetic disorders. Though the genes are supposed to be associated with protein, their presence causes human genetic disorders among all. In other words, the genes are responsible for protein, theirs getting weak or dysfunctional causes lets the diseases to make an onslaught on the individual, the victim of human genetic disorder. The genes being hereditary ones are termed as hemochromatosis genes as well.
Lets have a look at some sepecific human genetic disroders
- Angelman syndrome.
- Canavan disease.
- Celiac disease.
- Charcot-Marie(Tooth disease).
- Color blindness.
- Cri du chat D 5.
- Cystic fibrosis.
- Down syndrome.
- Duchenne muscular.
- Haemophilia.
- Klinefelter syndrome.
- Neurofibromatosis.
- Phenylketonuria.
- Prader-Willi syndrome.
- Sickle-cell disease.
- Tay-Sachs disease.
- Turner syndrome.
- 45,X.
- AAT.
- Absence of vas deferens.
- Absent vasa.
- ACG2.
- ACH.
- Achondrogenesis type II.
- Acid beta-glucosidase deficiency.
- Acrocephalosyndactyly.
- Acrocephaly.
- Acute cerebral Gaucher’s disease.
- ACY2 deficiency.
- AD.
- Adelaide-type craniosynostosis.
- Adenomatous Polyposis of the Colon.
- ADP.
- Adrenal gland disorders.
- drenogenital syndrome.
- Adrenoleukodystrophy.
- AIP.
- AIS.
- AKU.
- ALA dehydratase porphyria.
- ALA-D porphyria.
- ALA dehydratase deficiency.
- Alcaptonuria.
- Alexander disease.
- Alkaptonuric ochronosis.
- Alpha-galactosidase A deficiency.
- ALS.
- Alstrom syndrome.
- ALX.
- Alzheimer disease.
- Alzheimer’s disease.
- Amelogenesis Imperfecta.
- Amino levulinic acid dehydratase deficiency.
- Aminoacylase 2 deficiency.
- Anderson-Fabry disease.
- Anemia, hereditary sideroblastic.
- Anemia, sex-linked hypochromic sideroblastic.
- Anemia, splenic, familial.
- Angelman syndrome.
- Angiokeratoma Corporis Diffusum.
- Angiokeratoma diffuse.
- Angiomatosis retinae.
- ANH1.
- APC resistance, Leiden type.
- Apert syndrome.
- AR deficiency.
- AR-CMT2.
- Arachnodactyly.
- ARNSHL.
- Arthro-ophthalmopathy, hereditary progressive.
- Arthrochalasis multiplex congenita.
- AS.
- Asp deficiency.
- Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome.
- Autosomal dominant opitz G/BBB syndrome.
- Autosomal recessive nonsyndromic hearing loss.
- AxD.
- Ayerza syndrome.
- Benign paroxysmal peritonitis.
- Benjamin syndrome.
- BH4 Deficiency.
- Bilateral Acoustic Neurofibromatosis.
- Bleeding disorders.
- Bloch-Sulzberger syndrome.
- Bloom syndrome.
- Bone diseases.
- Bone marrow diseases.
- Bonnevie-Ullrich syndrome.
- Bourneville disease.
- Bourneville phakomatosis.
- Brain diseases.
- Birt-Hogg-Dubé syndrome.
- Brittle bone disease.
- CADASIL P 3.
- CGD Chronic Granulomatous disorder.
- Cancer Family syndrome.
- Cancer of breast.
- Cancer of the bladder.
- Carboxylase Deficiency.
- CAVD.
- Caylor cardiofacial syndrome.
- CBAVD.
- Celiac Disease.
- CEP.
- Cerebral sclerosis.
- CF.
- Chondrodystrophy syndrome.
- Cloverleaf skull with thanatophoric dwarfism.
- Colorectal Cancer.
- Congenital osteosclerosis.
- Cooley’s Anemia.