SYNDROME - FIND RELATED DISEASES

SIGNS SYMPTOMS / SYNDROME - FIND RELATED DISEASES
Related diseases / syndromes to (syndrome) including facts and information available:
11 BETA HYDROXYSTEROID DEHYDROGENASE TYPE 2 DEFICIENCY / FUNCTION
it is also important to comprehend the role of the 11 beta-hydroxysteroid dehydrogenase type 2 when it comes to regulating a person's blood pressure. this will be an aid in understanding what would happen when there is a deficiency of this enzyme. this enzyme actually inactivates 11-hydroxy steroids found in the kidneys. this action helps in protecting the mineralocorticoid receptor (which is a non-selective receptor) from being occupied by the glucocorticoids. this gene can be found in human thyroid, pancreas & placenta. gene mutations could result into the hypertensive syndrome known as ame or apparent mineralocorticoid excess. when this type of hypertension occurs, the results are usually renal retention of sodium, hypertension that is salt-dependent & also hypokalemia....
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17 ALPHA HYDROXYLASE DEFICIENCY / DEFINITION
17 alpha hydroxylase deficiency syndrome is a very rare disorder of the genes (specifically on steroid biosynthesis) which causes reduced production of sex steroids & glucocorticoids while the mineralocorticoid precursors are observed to have increased synthesis. it is, therefore, an autosomal recessive condition. the absence or deficiency of 17 hydroxylase results into many sexual malformations & illnesses....
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17 ALPHA HYDROXYLASE DEFICIENCY / FREQUENCY
it has been reported that the disorder is rare. this syndrome comprises only 1% of the total number of cases for cah (congenital adrenal hyperplasia). the ratio could be as small as 1 in 50,000 people. although rare, this deficiency can occur anywhere in the world with reported cases in brazil, turkey & puerto rico....
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17 ALPHA HYDROXYLASE DEFICIENCY / MORTALITY OR MORBIDITY
although hypertension or hypokalemia are prevalent results of this syndrome, adrenal crises have not been recorded. the only possible severe result is the elevation of the blood pressure which could range from mild to serious & complications of the original diagnosis on hypertension or hypokalemia....
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17 ALPHA HYDROXYLASE DEFICIENCY / MANIFESTATIONS OF THE DISEASE
the reduction or absence of adrenal & gonadal sex hormones often results into sexual infantilism in females & indistinct genitalia in males. an excess in mineralcorticoid activity becomes the stimuli of various degrees of hypokalemia (characterized by weakness of the muscles, distension of the abdomen or obstruction of the intestines) & hypertension. 90% of patients that have been diagnosed with this syndrome become hypertensive or hypokalemic. this syndrome also leads to a delay in puberty (more often, pubic hair is absent among patients), primary amenorrhea or the absence of minor sexual traits. there have been reported cases where the 'supposed' male patients were brought up as boys & yet only to be discovered later on in life that they are, in fact, females as they begin to develop breasts & start to menstruate. in the case of diagnosed females, they age but they fail to mature (their breasts do not fully develop & the genitalia remains infantile). another disease that could come out of 17 alpha hydroxylase deficiency is hypogonadism. this often results into osteoporosis or age retardation of the bones....
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17-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY / RECORDED MUTATIONS
the recorded mutations of this syndrome are now up to 16 in number. the numbers are subdivided into 12 mutations that are missense, 3 mutations on splice junction & a single tiny deletion which becomes an untimely stop codon....
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1P36 DELETION SYNDROME, RARE (NIH) / DEFINITION
1p36 deletion syndrome also known as monosomy 1p36 is a disorder of the chromosomes in which chromosome 1 loses the end part of its short arm. this disorder was first depicted during the late 90's & the early parts of 2000's. fish testing is often required to be able to confirm a diagnosis. this condition can occur as a 'pure' case or it can occur together with other imbalances of the chromosome....
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1P36 DELETION SYNDROME, RARE (NIH) / DEVELOPMENTAL DELAYS
the most common features of 1p36 deletion syndrome are delays on the child's development, learning disability, inferior muscle tone, difficulty of feeding (slow sucking or swallowing; even vomiting during infancy), facial features that are highly distinct; defects on the child's vision, a slow-closing large fontanelle. children that have this syndrome also sit up, talk & walk much later than the normal children. it has also been recorded that children who are afflicted with this syndrome develop difficulties in behavior such as outbursts on their tempers, object-throwing, they can even strike other children or adults, screaming & are also capable of inflicting self-injury (which could include striking his head on the wall or biting his own wrists)....
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1P36 DELETION SYNDROME, RARE (NIH) / EYE PROBLEMS CAUSED BY THE SYNDROME
strabismus is a condition where the pair of eyes does not have the same focus. this usually occurs when the patient stares at an object from a distance. other eye problems include the so-called double vision, visual inattentiveness & even lacrimal gland defects. other refractive errors are farsightedness, nearsightedness, presbyopia (patient is unable to maintain clear images) & astigmatism. one other eye problem is the cataract where the lens of the eyes become clouded. fortunately, most of these disorders can be corrected with the use of contact lenses or eyeglasses....
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1P36 DELETION SYNDROME, RARE (NIH) / MORE SERIOUS PROBLEMS CAUSED BY THE SYNDROME
the more serious forms of illnesses that could occur due to 1p36 deletion syndrome are hypothyroidism & heart defects such as dcm or dilated cardiomyopathy (enlargement of the heart); patent ductus arteriosus (newborn connecting blood vessel remains open); & tetralogy of fallot (defect of the ventricle)...
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1P36 DELETION SYNDROME, RARE (NIH) / CARE
it is safer to state that children who suffer from this syndrome need long-term or even lifetime care from their parents or guardians. it is also advisable that children with this syndrome be consulted by specialists with a thorough knowledge of the illness. these specialists could include dieticians, neurologist, ophthalmologist, cardiologist, speech therapists & medical geneticists....
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1P36 DELETION SYNDROME, RARE (NIH) / PREVALENCE
this disorder is known to affect only 1 in 5,000-10,000 births. most of the children with cases of 1p36 deletion syndrome did not acquire their disorders from their parents, only 3 out of 62 cases did....
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22Q11.2 DELETION SYNDROME, RARE (NIH) / DEFINITION
the disorder known as 22q11.2 deletion syndrome is caused by the deficiency or deletion of a tiny piece of chromosome 22. this deletion happens near the midsection of a chromosome located at q 11.2....
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22Q11.2 DELETION SYNDROME, RARE (NIH) / PREVALENCE
there are various estimates when it comes to the prevalence of the syndrome. in a study based in sweden, the annual occurrence was at 14.1 for every 100,000 births. this is based on a study conducted by cdc or the centers for disease control with about 6,000 subjects from different ethnic backgrounds....
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22Q11.2 DELETION SYNDROME, RARE (NIH) / CHARACTERISTICS & FEATURES
this syndrome can affect many human body parts. the most common symptoms include defects of the heart (often present at birth); cleft palate & other defects of the palate; even facial defects (an example is a patient with 'crying face'). other diseases could occur such as kidney disorders or abnormalities, seizures caused by low calcium levels in the blood (which is also known as hypocalcemia occurring in about 17-60% cases) & hearing loss. most of the patients of this syndrome also acquire autoimmune diseases such as grave's disease or rheumatoid arthritis. it is also possible to acquire skeletal disorders such as short stature or spinal bone abnormalities. abnormalities on the patient's eyes can also occur: examples include ptosis, upper lid hooding, lower lid hooding, epicanthanl folds & distichiasis. other findings include embryotoxon, sclerocornea, corneal nerve isolation, deep iris crypts, small optic nerves & tilted discs. children who are afflicted with this syndrome have delays on their growth & development. it is also possible that they will have learning disabilities & worse, it could develop into mental illnesses like depression, bipolar disorder, anxiety & schizophrenia....
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22Q11.2 DELETION SYNDROME, RARE (NIH) / MANAGEMENT
patients with congenital heart defects caused by 22q11.2 deletion syndrome can be treated in the same manner as regular patients. those with feeding complexities are given spoon placement modifications; acid blockade is used as a treatment for gastric reflux on the esophagus; postural therapy for those with postural problems; & prokinetic agents. craniofacial teams can take care of abnormalities of the palate while mra or magnetic resonance angiography may help in identifying risks during surgical procedures. genetic counseling & pre-natal testing are also advisable. genetic clinics are great sources of help & information among patients & their supportive families. these clinics often discuss the history, inheritance mode, treatment & the risks to all other members of the family. there are also many support groups that have been established to help the affected individuals & their families....
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3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY / SYMPTOMS & SIGNS
with the onset of the deficiency, various symptoms start to show such as hypotonia, hypertrophic cardiomyopathy infections for children under the age of 2, or hypoglycemia which manifests after long fasts. patients later acquire peripheral neuropathy & retinopathy. the hellp (haemolysis, elevated liver enzymes, low platelets) syndrome could also show among heterozygous mothers. diagnosis of the disorder can only be confirmed by specifying the mutation of the g1528c enzyme or by the measurement of enzymatic activities. for expecting mothers, there are available prenatal diagnoses which involve the use of amniocytes. most of the signs of this disorder show during infancy or on the onset of early childhood. the most common that parents should take note of are: difficulty in feeding the child; lethargy or the lack of vigor; problems with the liver; eye abnormalities; muscle pains; & also nervous system abnormalities. other reported cases also include feeling sleepy most of the time, nausea, vomiting, jitteriness, weakness, irritability & some changes in behavior. the most serious cases could lead to problems in breathing, coma, or even very sudden death....
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3-METHYL CROTONYL-COA CARBOXYLASE DEFICIENCY / CHARACTERISTICS & FEATURES
infants & children are the primary victims of this deficiency. the sad thing is, most infants appear normal after being born & the symptoms only begin to show during the child's first year of life. the characteristic traits of this disorder include feeding complexities, lethargy or the feeling of extreme tiredness, hypotonia (a condition where the muscle tones become weak), diarrhea, vomiting, seizures & in the worst of cases, even coma or death. these complications can be prevented once the disorder is detected early on & then managed. a good method of management is the administration of supplements & a diet that is low in protein. some cases do not develop any signs or symptoms & this is true when the patients undergo gene mutations. reye syndrome is a similar illness wherein the children appear to be recuperating from an influenza or chicken pox....
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3-METHYL GLUTACONIC ACIDURIA / SYMPTOMS & SIGNS
the distinct traits of type i include delay in speech & development (whether motor or mental skills); muscle tone abnormality or dystonia; spasms & spastic quadriparesis; & metabolic acidosis or the elevation of acid levels in tissues & blood. barth syndrome's characteristics include dilated cardiomyopathy or an enlarged & weak heart; stunted growth; skeletal problems; neutropenia or infection due to insufficient number of white blood corpuscles. about 1 in every 200,000 male infants have the type ii of mga. type iii is characterized by optic nerve degeneration; problems of the nervous system; bad posture; some involuntary movements; & generally, a decrease in functions of the brain. 1 in every 10,000 births among jewish-iraqis have the type iii of mga. type iv shows varying symptoms which are similar to the characteristics of types i-iii....
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3-METHYL GLUTACONIC ACIDURIA / MGA SUB-GROUPS
there are five known sub-groups of the 3-methylglutaconic aciduria. they are the following: type i is known as 3-methylglutaconyl-coa hydratase deficiency or 3-methylglutaconic academia; type ii is also called the cardiomyopathy-neutropenia syndrome or barth syndrome; type iii is known as the costeff syndrome; type iv is called the 3-methylglutaconic aciduria type iv; & type v is methylglutaconic aciduria type v....
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