Brain
... congenital . Tay-Sachs disease , Fragile X
syndrome , Down
syndrome , and Tourette
syndrome are all linked to genetic or chromosomal ...
Chromosome
... disorders . Examples include:
Cri du chat
syndrome , which is caused by the deletion of part of ... jaw and are mentally retarded.
Wolf-Hirschhorn
syndrome , which is caused by partial deletion of the ... growth retardation and mental defect.
Down
syndrome (extra chromosome 21). This is also known as ...
Diabetes mellitus
... , such as hemochromatosis and polycystic ovary
syndrome , and can also be caused by certain types of ... , past gestational diabetes , polycystic ovary
syndrome , chronic pancreatitis , hepatic steatosis ... );
Reaven's introduction of the metabolic
syndrome in 1988
identification of ...
Down syndrome
... A child with Down
syndrome
Down
syndrome (also called Down's
syndrome ) encompasses a number of genetic disorders , of ...
Edward's syndrome
... Trisomy 18 or Edward's
syndrome , is the second most common trisomy after Down's
syndrome . Edward's
syndrome occurs when three sets (trisomy) of chromosome ...
Infertility
...
Hypothalamic-pituitary factors:
Kallmann
syndrome
Hypothalamic dysfunction
...
Ovarian factors
Polycystic ovary
syndrome
Anovulation
Diminished ovarian reserve
... menopause
Gonadal dysgenesis ( Turner
syndrome )
Ovarian tumor
Tubal/peritoneal factors
...
Klinefelter's syndrome
... Klinefelter's
syndrome is a condition caused by a chromosome ... , the medical researcher who first described this
syndrome in 1942 .
Human males usually have an XY ... of Klinefelter's syndrome.
In adults, the
syndrome is characterised by gynecomastia (enlarged ...
Marfan syndrome
... Marfan
syndrome is a connective tissue disorder, affecting ...
5 External links
Genetics
Marfan
syndrome is an autosomal dominant disorder that has been ... fibres found in connective tissue. Marfan's
syndrome is associated with incomplete penetrance, ...
Nondisjunction
... several medical conditions, including:
Down
syndrome - trisomy of chromosome 21
Patau
syndrome - trisomy of chromosome 13
Edward
syndrome - trisomy of chromosome 18
...
Patau syndrome
... Patau
syndrome , also known as Trisomy 13 , is a chromosomal ... has an additional chromosome 13 .
Patau
syndrome is associated with severe mental retardation , ... problems associated with this condition. Patau
syndrome affects approximately 1 in 10,000 live births. ...
Selective serotonin reuptake inhibitor
... sometimes prescribed to treat Irritable Bowel
syndrome .
SSRIs are not addictive in the strict sense ... response to an outbreak of eosinophilia-myalgia
syndrome caused by impure L-tryptophan supplements sold ... resulted in 1500 cases of eosinophilia-myalgia
syndrome and over 30 deaths, prompted the United States ...
Twin
... placenta, leading to twin-to-twin transfusion
syndrome .
Monozygotic twins are genetically identical ... abnormality, the girl will suffer from Turner
syndrome , which is distinguishable by short stature, ... deficit known as space-form blindness . Turner
syndrome can occur in any birth (including singletons, ...
X chromosome
...
Numerical abnormalities
Klinefelter
syndrome :
Klinefelter
syndrome is caused by the presence of one or more extra ... Typically, males with Klinefelter
syndrome have one extra copy of the X chromosome in each ...
Y chromosome
... number of copies of chromosome Y.
Klinefelter
syndrome is caused by the presence of one or more extra ... in the body's cells. Most males with Klinefelter
syndrome have one extra copy of the X chromosome in each cell (47,XXY). Variants of the
syndrome can involve more than one extra sex chromosome. ...
Cancer
... in multiple endocrine neoplasia (MEN types 1, 2a, 2b)
Li-Fraumeni
syndrome (various tumors such as osteosarcoma , breast cancer, soft-tissue sarcoma , brain tumors ) due to mutations of p53
Turcot
syndrome ( brain tumors and colonic polyposis)
Familial adenomatous polyposis ...
Ploidy
... trisomy (three copies) of the sex chromosome (the cause of Klinefelter's
syndrome and others) and of chromosome 21 (the cause of Down
syndrome ) are relatively common.
Many forms of cancer have incorrect ploidy ...
Ploidy
... trisomy (three copies) of the sex chromosome (the cause of Klinefelter's
syndrome and others) and of chromosome 21 (the cause of Down
syndrome ) are relatively common.
Many forms of cancer have incorrect ploidy ...
Kidney
... of the kidneys caused by obstruction of the flow of urine.
In nephrotic
syndrome , the glomerulus has been damaged so that a large amount of protein in the blood enters the urine . Other frequent features of the nephrotic
syndrome include swelling, low serum albumin, and high cholesterol.
kidney ...
Muscle
... receptor, and its related condition Lambert-Eaton myasthenic
syndrome (LEMS). Tetanus and botulism are bacterial infections in which ... tract (e.g. asthma ), the digestive system (e.g. irritable bowel
syndrome ) and the urinary tract (e.g. urinary incontinence ). These disease ...
Promoter
... element . Blood . 77 (9), 2054-2058.
Rubinstein-Taybi
syndrome
case study: Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, ... N, van Ommen GJ, Goodman RH, Peters DJ, et al. (1995). Rubinstein-Taybi
syndrome caused by mutations in the transcriptional co-activator CBP . Nature . ...
Stem cell
... cord blood stem cells have been used to treat Gunther's disease , Hunter
syndrome , Hurler
syndrome , Acute lymphocytic leukaemia and many more problems occurring mostly in ...
Albumin
...
Cirrhosis of the liver (most commonly)
Decreased production (as in starvation)
Excess excretion by the kidneys (as in nephrotic
syndrome )
Excess loss in bowel (protein losing enteropathy)
Mutation causing albuminemia (very rare)
Links
Human albumin structure in the ...
Bacterium
... and cause tetanus , typhoid fever , pneumonia , syphilis , cholera , foodborne illness and tuberculosis . Sepsis , a systemic infectious
syndrome characterized by shock and massive vasodilation, or localized infection, can be caused by bacteria such as streptococcus , staphylococcus , or many ...
Cilium
... defect of the primary cilium in the renal tube cells can lead to polycystic kidney disease (PKD). In another genetic disorder called Bardet-Biedl
syndrome (BBS), the mutant gene products are the components in the basal body and cilia.
...
Developmental biology
... The findings of developmental biology can help to understand developmental malfunctions such as chromosomal aberrations , for example, Down
syndrome . An understanding of the specialization of cells during embryogenesis may shield information on how to specialize stem cells to specific tissues ...
Bacterium
... and cause tetanus , typhoid fever , pneumonia , syphilis , cholera , foodborne illness and tuberculosis . Sepsis , a systemic infectious
syndrome characterized by shock and massive vasodilation, or localized infection, can be caused by bacteria such as streptococcus , staphylococcus , or many ...
Insulin
... destruction of insulin producing beta cells in the pancreas resulting in absolute insulin deficiency
type 2 – multifactoral
syndrome with combined influence of genetic susceptibility and influence of environmental factors, the best known being obesity , age, and physical ...
Liver
... disease of the bile duct , autoimmune in nature.
Primary biliary cirrhosis , autoimmune disease of small bile ducts
Budd-Chiari
syndrome , obstruction of the hepatic vein.
A number of liver function tests are available to test the proper function of the liver. These are enzymes ...
Outbreak
... virus as it was discovered over 20 years ago, and it has grown to become a major epidemic. Other emerging viruses include Severe Acute Respiratory
syndrome ( SARS ), henipaviruses and Ebola which have been contained through aggressive contact tracing and isolation of patients and suspected carriers ...
Peroxisome
... membranes.
Peroxisomes are responsible for oxidation of long-chain fatty acids and thereby generating acetyl groups.
See Also
Zellweger
syndrome , a peroxisomal disease
...
Phospholipid
... laterally through the lipid matrix and migrate over the membrane.
See also
biochemistry
lipid
lipid bilayer
antiphospholipid
syndrome
References
Berg, J.M., J.L. Tymoczko, and L. Stryer, Biochemistry . 5th ed. 2002, New York: W.H. Freeman. xxxviii, 974, [976] (various ...
Prion
... CJD prion HuPrP Sc
(New) Variant Creutzfeldt-Jakob disease (vCJD, nvCJD) Humans BSE prion* BovPrP Sc *
Gerstmann-Strussler-Scheinker
syndrome (GSS) Humans GSS prion HuPrP Sc
Fatal familial insomnia (FFI) Humans FFI prion HuPrP Sc
* or variant
Fungal prion
...
Purine
... while hypoxanthine-guanine phosphoribosyltransferase (HPRT) salvages guanine and hypoxanthine. Genetic deficiency of HPRT causes Lesch-Nyhan
syndrome .
History
Purine was named by the German chemist Emil Fischer in 1884 . He synthesized it in 1898 . Fischer showed that the ...