Albinism Albinism, a group of inherited disorders, results in little or no production of the pigment melanin.

The type and amount of melanin your body produces determines the color of your skin, hair and eyes. Most people with albinism are sensitive to sun exposure and are at increased risk of developing skin cancer. Melanin also plays a role in the development of certain optical nerves. All forms of albinism cause problems with the development and function of the eyes. Skin Skin pigmentation can range from white to brown, and may be nearly the same as that of parents or siblings without albinism. For some people with albinism, skin pigmentation never changes. For others, melanin production may begin or increase during childhood and adolescence, resulting in slight changes in pigmentation. Hair Hair color for people of African or Asian descent who have albinism may have hair color that is yellow, reddish or brown. Eye color Eye color can range from very light blue to brown and may change with age. The lack of pigment in the colored part of the eyes (irises) makes them somewhat translucent. This means that the irises can't completely block light from entering the eye. Because of this translucence, very light-colored eyes may appear red in some lighting. Complications Skin disorders One of the most serious complications associated with albinism is the risk of sunburn and skin cancer. Social and emotional factors.

Causes
Impact of mutations on eye development Regardless of which gene mutation is present, vision impairment is a common characteristic with all types of albinism. These impairments are caused by irregular development of the nerve pathways from the eye to the brain and from abnormal development of the retina. Types of albinism , Oculocutaneous albinism, X-linked ocular albinism & Hermansky-Pudlak syndrome.

What is alkaptonuria?
Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones.

What genes are related to alkaptonuria?

Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair the enzyme's role in this process. As a result, a substance called homogentisic acid, which is produced as phenylalanine and tyrosine are broken down, accumulates in the body. Excess homogentisic acid and related compounds are deposited in connective tissues, which causes cartilage and skin to darken. Over time, a buildup of this substance in the joints leads to arthritis. Homogentisic acid is also excreted in urine, making the urine turn dark when exposed to air.

How do people inherit alkaptonuria?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Homogentisate oxidase is active chiefly in the liver and kidneys.

What is polydactyly?
Polydactyly is a medical term used to describe extra fingers on the hands or toes on the feet. Since the extra fingers or toes are present at birth, they are called a congenital anomaly. The extra fingers or toes may be small and non-functional, in the case of nubbins or skin tags, or they may be fully formed with bones and skeletal connections. Extra digits can exist in different places on the hands and feet. If they are adjacent to the thumb or big toe, they are called pre-axial digits. If they are adjacent to the pinky finger or toe, they are called post-axial digits. Extra digits can also be centrally located in the hand or foot.

What causes polydactyly?

Polydactyly occurs when the body follows a different set of directions than usual while forming the hands or feet during development. Researchers are still learning about all the genes that cause extra digits. The trait may be passed down in families as an isolated, benign condition, like having a hitchhiker's thumb or being double jointed. This is considered a non-syndromic anomaly. Alternatively, the trait may exist as part of a syndrome, which is a group of several recognizable clinical features that often occur together. Some syndromes that might present with polydactyly include Greigh Cephalopolysyndactyly Syndrome (GCPS) or Bardet-Biedl Syndrome (BBS).

Huntington's disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington's disease has a broad impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders. Most people with Huntington's disease develop signs and symptoms in their 40s or 50s, but the onset of disease may be earlier or later in life. When disease onset begins before age 20, the condition is called juvenile Huntington's disease. Earlier onset often results in a somewhat different presentation of symptoms and faster disease progression.

Symptom
Movement disorders The movement disorders associated with Huntington's disease can include both involuntary movements and impairments in voluntary movements: Involuntary jerking or writhing movements (chorea) Cognitive disorders Cognitive impairments often associated with Huntington's disease include: Difficulty planning, organizing and prioritizing tasks Inability to start a task or conversation Symptoms of juvenile Huntington's disease The onset and progression of Huntington's disease in younger people may be slightly different from that in adults. Problems that often present themselves early in the course of the disease include: Loss of previously learned academic or physical skills Rapid, significant drop in overall school performance Behavioral problems Contracted and rigid muscles that affect gait (especially in young children) Changes in fine motor skills that might be noticeable in skills such as handwriting Tremors or slight involuntary movements Seizure

Risk factors
If one of your parents has Huntington's disease, you have a 50 percent chance of developing the disease. In rare cases, you may develop Huntington's disease without having a family history of the condition. Such an occurrence may be the result of a genetic mutation that happened during your father's sperm development. The clinical depression associated with Huntington's disease may increase the risk of suicide. Some research suggests that the greater risk of suicide occurs before a diagnosis is made and in middle stages of the disease when a person has begun to lose independence. Eventually, a person with Huntington's disease requires help with all activities of daily living and care. Late in the disease, he or she will likely be confined to a bed and unable to speak. However, a person's understanding of surroundings and interactions remain intact for a long time. Common causes of death include: Pneumonia or other infections Injuries related to falls Complications related to the inability to swallow

Familial hypercholesterolemia (abbreviated FH, also spelled familial hypercholesterolaemia) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular disease. Many patients have mutations in theLDLR gene that encodes the LDL receptor protein, which normally removes LDL from the circulation, or apolipoprotein B (ApoB), which is the part of LDL that binds with the receptor; mutations in other genes are rare. Patients who have one abnormal copy (are heterozygous) of the LDLR gene may have premature cardiovascular disease at the age of 30 to 40. Having two abnormal copies (being homozygous) may cause severe cardiovascular disease in childhood. Heterozygous FH is a common genetic disorder, inherited in an autosomal dominant pattern, occurring in 1:500 people in most [1] countries; homozygous FH is much rarer, occurring in 1 in a million births. Heterozygous FH is normally treated with statins, bile acid sequestrants or other hypolipidemic agents that lower cholesterol levels. New cases are generally offered genetic counseling. Homozygous FH often does not respond to medical therapy and may require other treatments, including LDL apheresis (removal of LDL in a method similar to dialysis) and occasionally liver transplantation. Homozygous FH Signs and symptoms of homozygous FH in children include the following: Symptoms consistent with ischemic heart disease, peripheral vascular disease, cerebrovascular disease, or aortic stenosis Articular symptoms such as tendonitis or arthralgias Unusual skin lesions, such as cutaneous xanthomas at birth or by early childhood (eg, planar xanthomas, tuberous xanthomas; later, tendon xanthomas)

Most patients with homozygous FH do not survive adulthood beyond age 30 years unless treated with unusual methods, such as liver transplantation, LDL apheresis, or ileal bypass surgery to dramatically lower their LDLc levels. Heterozygous FH Children with heterozygous FH do not have symptoms related to CHD, and most do not develop tendon xanthomas or corneal arcus. However, one parent will have severe hypercholesterolemia and will also probably have either a personal or family history for premature CAD. Signs and symptoms of heterozygous FH in adults include the following: Long-standing history of severe hypercholesterolemia dating back to childhood If no previous acute coronary event, symptoms consistent with ischemic heart disease, especially in the presence of other cardiovascular risk factors (especially smoking)

Cystic fibrosis is a life-threatening disorder that causes severe damage to the lungs and digestive system. An inherited condition, cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in cystic fibrosis, a defective gene causes the secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas. Respiratory signs and symptoms The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your lungs. This can cause: A persistent cough that produces thick spit (sputum) and mucus Wheezing.h. Digestive signs and symptoms The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small intestine. Without these digestive enzymes, your intestines can't fully absorb the nutrients in the food you eat. The result is often: Foul-smelling, greasy stools

Causes
In cystic fibrosis, a defect (mutation) in a gene changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat. Many different defects can occur in the gene. The type of gene mutation is associated with the severity of the condition. The affected gene, which is inherited from a child's parents, is a recessive gene. Children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only one copy, they won't develop cystic fibrosis, but will be carriers and possibly pass the gene to their own children.

Hemophilia is a disorder of your blood-clotting system. Clotting is the process by which your blood changes from a liquid to a solid state. There are several types of hemophilia. All types can cause prolonged bleeding. If you have hemophilia and you have a cut, you'll bleed for a longer time than you would if your blood clotted normally. Small cuts usually aren't much of a problem. The greater health concern, particularly with hemophilia A and B, is deep internal bleeding and bleeding into joints.

Hemophilia is a lifelong disease, but with proper treatment and self-care, most people with hemophilia can maintain an active, productive lifestyle.

A Barr body (named after discoverer Murray Barr)[1] is the inactive X chromosome in a female somatic cell,[2] rendered inactive in a process called lyonization, in those species in which sex is determined by the presence of the Y (including humans) or W chromosome rather than the diploidy of the X or Z. The Lyon hypothesis states that in cells with multiple X chromosomes, all but one are inactivated during mammalian embryogenesis.[3] This happens early in embryonic development at random in mammals,[4] except in marsupials and in some extra-embryonic tissues of some placental mammals, in which the father's X chromosome is always deactivated.[5] In men and women with more than one X chromosome, the number of Barr bodies visible at interphase is always one less than the total number of X chromosomes. For example, men with a 47,XXY karyotype have a single Barr body, whereas women with a 47,XXX karyotype have two Barr bodies. Barr bodies can be seen on the nucleus of neutrophils.

The female child has two X chromosomes (XX), and the male child receives an X and Y chromosome (XY). In some circumstances, occurring in between 1 and 500 to 1000 births, a male child receives an extra X chromosome, creating an XXY chromosomal structure. XXY chromosomes, or more accurately, the XXY chromosomal structure or pattern, when recognized, can create varied symptoms. These are not always expressed and the XXYcondition is not always recognized. The presence of the extra X may be called Klinefelter Syndrome, or boys with XXY chromosomes are referred to as XXY males instead of describing their differences as a syndrome. It is really important to remember that boys with XXYchromosomes may have all or none of the features associated with XXY males. Some indications of the XXY chromosomal structure may be noticed in early childhood. These can include physical developmental delays, like walking or talking later than average. Speech difficulties may continue, and children with an XXY structure may require speech therapy.Learning disabilities in early school, especially challenges reading, can also affect some of these children. Kids with this additional X chromosome may also be more physically awkward and some are more shy or passive.