Von Willebrand’s Disease – Symptoms and Treatment

Definition of Von Willebrand’s Disease A hereditary, genetic bleeding disorder resulting from a deficiency or molecular abnormality of clotting factor VIII. Unlike hemophilia A, which also results from clotting factor VIII deficiency, von Willebrand’s disease affects both men and women equally. Its inheritance pattern is autosomal dominant, meaning a child can acquire the condition when […]

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Fragile X Syndrome – symptoms, diagnosis and treatment

Fragile X Syndrome Definition An inherited genetic disorder that results in significant intellectual impairment. Fragile X syndrome arises from a monogenic (single-GENE), increased repeat MUTATION affecting the FMR1 gene on the X CHROMOSOME and is the leading cause of inherited intellectual impairment in males. Fragile X syndrome more severely affects males because females have a second X chromosome that can […]

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Alport’s Syndrome – Definition, Symptoms and Treatment

Definition of Alport’s Syndrome Alport’s Syndrome – An inherited genetic disorder in which one, two, or three mutations occur in the GENE that encodes type IV collagen formations, also called basement membranes. The mutations affect up to three of the six protein chains (alpha-3, alpha-4, and alpha-5) that make up type IV collagen, which is […]

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G6PD Deficiency – symptoms

G6PD Deficiency Definition G6PD Deficiency – an inherited genetic disorder in which the body lacks the enzyme glucose-6-phosphate dehydrogenase (G6PD). Erythrocytes (red BLOOD cells) normally produce G6PD, which aids in metabolizing carbohydrates and also helps to protect erythrocytes from oxidation (damage resulting from metabolic waste). The absence of G6PD causes health problems when the body experiences unusual stress, […]

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Cystinuria – definition, diagnosis, symptoms and treatment

Definition of Cystinuria Cystinuria is an inherited genetic disorder in which the KIDNEYS do not properly reabsorb amino acids collectively called cystine. The excessive excretion of cystine to the URINE causes crystalline calcifications, commonly called stones, to form in the kidneys, ureters, and BLADDER. Most people learn they have the GENE MUTATION, which is autosomal recessive, during analysis of the calcifications. […]

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Genetic Disorders in humans – list and definition

Genetic Disorders Definition Genetic Disorders is a collective classification for syndromes, diseases, and congenital anomalies that result from alterations of the genes and chromosomes.There are four general categories of genetic disorders, each relating to the way in which the alterations manifest. Chromosomal Disorders The normal human GENOME contains 23 paired chromosomes. CHROMOSOMAL DISORDERS occur when there are disruptions in […]

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Renal Tubular Acidosis (RTA) – Definition and Information

Definition of Renal Tubular Acidosis (RTA) Renal Tubular Acidosis – A genetic disorder in which the renal tubule within the NEPHRON fails to release hydrogen ions into the filtrate. The consequence is a buildup of acid in the BLOOD (serum acidosis) that causes various symptoms and imbalances among the body’s electrolytes. There are numerous forms of […]

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Mitochondrial Disorders

Mitochondrial Disorders Definition Mitochondrial Disorders – inherited mutations in mitochondrial genes that result in functional disturbances in various body systems. Mitochondria are structures within the cell that generate the energy, in the form of adenosine triphosphate (ATP), the cell requires to function. A cell may contain dozens of mitochondria. Each mitochondrion contains the specific genetic material […]

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Albinism – Types, Symptoms, Causes and Treatment

Definition of Albinism and Pigmentation Albinism is a genetic disorder in which the melanocytes do not produce, or produce reduced amounts of, melanin, the chemical that deposits pigment in cells of the SKIN, HAIR, and structures of the EYE. Without melanin, the skin, eyes, and hair have little or no pigment and consequently lack color. People who have albinism […]

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Mosaicism – what is and definition

Mosaicism Definition A chromosomal disorder in which some cells are normal and some cells contain the chromosomal abnormalities of the disorder, in contrast to a complete distribution of the abnormal chromosomes throughout all cells. The distribution of abnormal cells in mosaicism is usually random and unpredictable. Mosaicism most commonly occurs in AUTOSOMAL TRISOMY, in which there is […]

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