Genetic diseases Flashcards
A group of disease when there is an increase accumulation of the metabolite which would have otherwise degraded by the presence of normal levels of specific enzyme.
Lysosomal storage disease
Enzyme deficient in Gaucher’s disease.
Glucocerebrosidase
Metabolite that accumulates in Gaucher’s disease.
Glucocerebroside
Enzyme deficient in Tay-Sachs disease.
Hexaminidase
Metabolite that accumulates in Tay-sachs disease.
Ganglioside
Enzyme deficient in niemman-pick
Sphingomyelinase
Metabolite that accumulates in niemman-pick disease.
Sphingomyelin
Enzyme deficient in Fabry disease.
Alpha-galactoseidase
Metabolite that accumulates in Fabry disease.
Globotriaosylceramide
What is the pathognomonic sign of Tay-sach?
Cherry red spotin retina
Patient with Tay-sach’s disease usually lives until?
4 years old :(
Other name of Tay-sachs
Gangliosidosis
A group of disease with deficient enzyme involved in either glycogen production or degradation in the liver.
Glycogen storage disease
Organ commonly affected by Glycogen storage disease
Liver
Disease deficient in Glucose-6-phosphatase
Type 1- Von Gierke’s
Disease deficient in Acid maltase
Type II- Pompe’s disease
Disease deficient in glycogen debrancher
Type III- Cori’s disase
Disease deficient in glycogen branching enzyme
Type IV- Andersen’s disease
Disease deficient in muscle glycogen phosphorylase
Type V- McArdle
Disease deficient in Liver glycogen phosphorylase
Type VI- Hers
Disease deficient in Muscle phosphofructokinase
Type-VII Tarui’s
Syndrome where there is abnormal production of uric acid due to recycling of purinesin the body.
Lesch-nyhan syndrome
Deficient enzyme in Lesch-nyhan syndrome
Hypoxanthine Guanine Phosphoribosyl Transferase (HGPRT)
Syndrome defective in FIBRILLIN type 1
Marfan syndrome
Clinical manifestation of Marfan syndrome
Tall stature with deformed sternum
Joints that can hyperextend
Cardiovascular defects
Most common cardiovascular defect associated with marfan syndrome
Cystic medial necrosis of the aorta
Pectus excavatumis found in?
Marfan syndrome
This disease has a defective collagen type 3 that affects the connective tissue
Ehler-Danlos syndrome
Complication in Ehler-Danlos syndrome
Rupture in major organs and vessels Rupture of the eyeball Rupture of membrane during pregnancy Arthritis Joint pain
Number one complicatin of ehler-danlos syndrome
Aneurysm
other name for ehler-danlos syndrome
Rubberman syndrome
A genetic disorder that cause life-long intellectual diability, developmental delays and other complications
Down syndrome
Type of down syndrome of which this is the most common chromosomal disorder due to meiotic nondysfuntion.
Trisomy 21
Hallmark of Trisonomy 21
Autism
Characteristics of autism
Difficulty in behavior
Difficulty in social interaction
Difficulty in sensory senstivity
Reflex deficient in Trisomy 21
Babinski reflex
Clinica manifestation of trisomy 21
Brushfield spots
Flattened nasal bone and strabismus
Macrodlossia, Delayed eruption of teeth and hypodontia.
Complications of Trisomy 21
Leukemia Congenital heart defect (av septal defect) Infection Dementia Obesity
Rare form of down syndrome
Mosai
The only down syndrome with only tyyoe thatcan be inherited
Translocation
Other name of TRISOMY 13
Patau syndrome
Signs and symptoms of Trisomy 13
Scalp defect Flexed fingers with polydactyly Ocular hypertelorism cerebral malfformations Absence of eyebrows
Usually patient with patau syndrome usuallly die during?
First month to first year of their life
oral findings of Trisomy 13
Cleft lip and palate
Other name of Trisomy 18
Edward syndrome
Signs and symptoms of Trisomy 18
Clinched fist
Rocker-bottom feet
Prominent occipital bone
Renal malformations
Oral findings of Trisomy 18
Micrognathia
Strawberry head
Syndrome most common cause of male hypogonadism
Klinefelter’s syndrome
Signs and symptoms of Klinefelter’ syndrome
Underdeveloped testes
Gynecomastia
Lower IQ
Oral finding of Klinefelter’s syndrome
Taurodontism
Other disease that shows gynecomastia
Liver disease
One of the most important causes of amenorrhea because ovarian tissues degenerate before birth.
Turner’s syndrome
The most common feature is short stature which becomes evident at the age of 5
Turner’s syndrome
Syndrome where there is absence of barr body
Turner’s syndrome
A genetic condition present from birth that is caused by deletion ofgenetic materials on the small arm of chromosome 5
Cri-Du-Chat
Other name of cri-du-chat
Cat’s cry syndrome
Signs and symptoms of cri-du-chat
High-pitched cry
Intellectual disability
Delayed development
Abnormal development of 1st and 2nd brachial arches, zygoma, mandible, and malformed ears
Treacher-collin syndrome
Oral findings in Treacher-collin syndrome
Small or absent parotid gland
cleft palate
Otherwise known as Bird-face
Treacher-collin syndrome
Also known as Fish-face
Pierre-robin syndrome
Pierre-robin syndrome triad
Cleft palate
Retrognathia (mandible)
Glossoptosis
Glossoptosis means?
Tongue displaced backward
A group of heredity conditions usually with pierre robin characterized by a distinctive facial appearance, eye abnormalities, hearing loss and joint problems.
Stickler syndrome
Flat-face
Sticker-syndrome
A congenital disorder of bone formation maanifested with clavicular hypoplasia with narrow thorax that gives wryneck appearance.
Cleidocrania dysostosis/dysplasia
The head of patients with cleidocranial dysostosis is described as?
Brachycephalic
sutures left open in the occipital bone of cleidocranial dysostosis
Wormian bodies
Oral manifestation in patient with cleidocranial dysplasia
Impacted multiple supernumerary teeth
Other name of cleidocranial dysostosis
Marie-sainton’s disease
