Genetic
Disorders
Amyloidosis
• Classic facial features of AL amyloidosis with bleeding under the
skin around the eyes.
• Specialty Endocrinology, rheumatology, cardiology
• Symptoms Feeling tired, weight loss, swelling of the legs,
shortness of breath, bleeding, feeling light headed with standing.
• Usual onset: 55–65 years old
• Causes: Genetic or acquired
• Diagnostic method: Tissue biopsy
• Treatment: Supportive care, directed at the underlying cause,
dialysis, organ transplantation.
• Prognosis:Improved with treatment
• Frequency: 3–13 per million per year (AL amyloidosis)
• Deaths: 1 per 1,000 people (developed world)
Werner Syndrome
• Werner syndrome (WS), also known as "adult
progeria", is a rare, autosomal recessive
disorder,which is characterized by the
appearance of premature aging.
• Affected individuals typically grow and develop
normally until puberty; the mean age of
diagnosis is twenty-four, often realized when the
adolescent growth spurt is not observed. The
youngest person diagnosed was six years
old.The median and mean ages of death are 47–
48 and 54 years, respectively. The main cause of
death is cardiovascular disease or cancer.
Sickle Cell Anemia
• Sickle cell disease occurs when a person inherits two
abnormal copies of the haemoglobin gene, one from each
parent.This gene occurs in chromosome 11.
• Sickle cell disease (SCD) is a group of blood disorders
typically inherited from a person's parents.The most
common type is known as sickle cell anemia (SCA)It
results in an abnormality in the oxygen-carrying protein
hemoglobin found in red blood cells.
• Problems in sickle cell disease typically begin around 5 to
6 months of age. A number of health problems may
develop, such as attacks of pain ("sickle cell crisis"),
anemia, swelling in the hands and feet, bacterial infections
and stroke.Long-term pain may develop as people get
older.The average life expectancy in the developed world is
40 to 60 years.
Retinoblastoma
• Retinoblastoma (Rb) is a rare form of cancer that rapidly
develops from the immature cells of a retina, the light-
detecting tissue of the eye. It is the most common
primary malignant intraocular cancer in children, and it
is almost exclusively found in young children.
• Though most children survive this cancer, they may lose
their vision in the affected eye(s) or need to have the eye
removed.
• Almost half of children with retinoblastoma have a
hereditary genetic defect associated with retinoblastoma.
In other cases, it is caused by a congenital mutation in
the chromosome 13 gene 13q14 (retinoblastoma protein)
Melanoma
• Symptoms: Mole that is increasing in size, has irregular edges, change in color, itchiness, or skin breakdown.
Causes: Ultraviolet light (Sun, tanning devices)
Risk factors: Family history, many moles, poor immune function.
Diagnostic method: Tissue biopsy.
Differential diagnosis Seborrheic keratosis, lentigo, blue nevus, dermatofibroma[
Prevention: Sunscreen, avoiding UV light[2]
Treatment: Surgery
Prognosis: Five-year survival rates in USA 98% (localized), 17% (disseminated)
Frequency 3.1 million (2015)[5]
Deaths 59,800 (2015)[6]
Melanoma, also known as malignant melanoma, is a type of cancer that develops from the pigment-containing cells known as melanocytes. Melanomas typically
occur in the skin, but may rarely occur in the mouth, intestines, or eye.In women, they most commonly occur on the legs, while in men they are most common on
the back.Sometimes they develop from a mole with changes such as an increase in size, irregular edges, change in color, itchiness, or skin breakdown.
Retinitis Pigmentosa
• Symptoms: Trouble seeing at night, decrease peripheral vision.
• Usual onset: Childhood
• Causes: Genetic
• Diagnostic method: Eye examination
• Treatment: Low vision aids, portable lighting, guide dog
• Medication:Vitamin A palmitate
• Frequency: 1 in 4,000 people
• Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes
loss of vision. Symptoms include trouble seeing at night and decreased
peripheral vision (side vision). Onset of symptoms is generally gradual.
As peripheral vision worsens, people may experience "tunnel
vision".Complete blindness is uncommon.
• Retinitis pigmentosa is generally inherited from a person's
parents.Mutations in one of more than 50 genes is involved.The
underlying mechanism involves the progressive loss of rod photoreceptor
cells in the back of the eye.
Ehlers-Danlos Syndrome
• Ehlers–Danlos syndromes (EDSs) are a group of genetic connective
tissue disorders.[1] Symptoms may include loose joints, stretchy skin,
and abnormal scar formation.[1] These can be noticed at birth or in early
childhood. Complications may include aortic dissection, joint
dislocations, scoliosis, chronic pain, or early osteoarthritis.
• No cure is known.Treatment is supportive in nature.Physical therapy and
bracing may help strengthen muscles and support joints.While some
disorders result in a normal life expectancy, those that affect blood
vessels generally result in a shorter life expectancy.
• Symptoms: Overly flexible joints, stretchy skin, abnormal scar
formation.
• Complications: Aortic dissection, joint dislocations, osteoarthritis.
• Usual onset: Birth or early childhood[2]
• Causes: Genetic
• Risk factors: Family history
• Diagnostic method: Genetic testing, skin biopsy method.
Haemophilia
• Haemophilia, also spelled as hemophilia, is a
mostly inherited genetic disorder that impairs the
body's ability to make blood clots, a process
needed to stop bleeding.This results in people
bleeding longer after an injury, easy bruising, and
an increased risk of bleeding inside joints or the
brain
• Symptoms: Easy and prolonged bleeding
• Usual onset: At birth
• Causes: Usually genetic
• Diagnostic method : Blood test
• Prevention: Preimplantation screening
• Treatment: Replace missing blood clotting factors
Spinocerebellar Ataxia
• Spinocerebellar ataxia (SCA), also known as spinocerebellar
atrophy or spinocerebellar degeneration, is a progressive,
degenerative,genetic disease with multiple types, each of
which could be considered a neurological condition in its
own right.
• SCA is hereditary, progressive, degenerative, and often fatal.
There is no known effective treatment or cure. SCA can
affect anyone of any age. The disease is caused by either a
recessive or dominant gene. In many cases people are not
aware that they carry a relevant gene until they have children
who begin to show signs of having the disorder.
• The hereditary ataxias are categorized by mode of
inheritance and causative gene or chromosomal locus. The
hereditary ataxias can be inherited in an autosomal
dominant, autosomal recessive, or X-linked manner.
Alport Syndrome
• Alport syndrome is a genetic condition characterized by kidney disease,
hearing loss, and eye abnormalities.
• People with Alport syndrome experience progressive loss of kidney
function. Almost all affected individuals have blood in their urine
(hematuria), which indicates abnormal functioning of the kidneys. Many
people with Alport syndrome also develop high levels of protein in their
urine (proteinuria). The kidneys become less able to function as this
condition progresses, resulting in end-stage renal disease (ESRD).
• People with Alport syndrome frequently develop sensorineural hearing
loss, which is caused by abnormalities of the inner ear, during late
childhood or early adolescence. Affected individuals may also have
misshapen lenses in the eyes (anterior lenticonus) and abnormal
coloration of the light-sensitive tissue at the back of the eye (retina).
These eye abnormalities seldom lead to vision loss.
• Significant hearing loss, eye abnormalities, and progressive kidney
disease are more common in males with Alport syndrome than in
affected females
Prepared By:
JENNELYN DELA CRUZ
SCIE 101 (GENETICS)
1ST SEMESTER S.Y 2018-
2019
