Genetics: diseases — симптомы, диагностика и лечение
19 заболеваний · 39 clinics · page 2 of 2
Kallmann syndrome
Kallmann syndrome is a congenital condition in which puberty does not begin or stops, and the sense of smell is severely reduced or absent. The reason is that in the prenatal period, the nerve cells that produce gonadotropin-releasing hormone do not reach the right place in the brain: they migrate along with the olfactory nerves, and disruption of this pathway affects both hormonal regulation and the sense of smell. As a result, the pituitary gland does not receive a signal, sex hormones are not produced, and the teenager does not enter puberty. The condition responds well to treatment: replacement therapy ensures the development of secondary sexual characteristics, and special regimens allow many patients to have their own children.
МКБ-10: E23.0 17 clinics
Fragile X syndrome (Martina-Bell)
Fragile X syndrome, also known as Martin-Bell syndrome, is the most common inherited cause of mental retardation. It is based on an increase in the number of repeats of a DNA section in the FMR1 gene on the X chromosome. Because of this, the gene turns off and stops producing the protein necessary for the maturation of connections between nerve cells. In boys, the manifestations are more pronounced because they have only one X chromosome. Characterized by speech delay, behavioral characteristics with features of autism, anxiety, an elongated face with large ears and increased joint mobility. There is no treatment that eliminates the cause, but early developmental intervention significantly improves the child's capabilities.
МКБ-10: Q99.2 12 clinics
Marfan syndrome
Marfan syndrome is an inherited connective tissue disorder caused by a change in the fibrillin-1 gene. This protein gives strength and elasticity to the walls of blood vessels, ligaments, the lens of the eye and the membranes of the joints, so several systems are affected at once. In appearance, people with the syndrome are usually tall and thin, with long limbs and fingers, flexible joints and chest deformities. The main danger is hidden inside: the aortic wall gradually stretches, and if left unattended, it can rupture or dissect. That is why the diagnosis is important not in itself, but as a basis for regular heart monitoring and timely surgery, which today allows you to live a long time.
МКБ-10: Q87.4 6 clinics
Patau syndrome (trisomy 13)
Patau syndrome is a chromosomal disorder in which cells have an extra thirteenth chromosome. Like other trisomies, it occurs accidentally during the formation of germ cells and is not associated with parental behavior during pregnancy. Excess genetic material grossly disrupts the formation of the brain and the middle part of the face, which is why cleft lips and palates, underdevelopment of brain structures, eye abnormalities, and extra fingers and toes are typical. Heart defects are almost always present. The prognosis is severe, and most children with the full form do not live long. The syndrome can usually be suspected during pregnancy using ultrasound data.
МКБ-10: Q91.7 12 clinics
Shereshevsky-Turner syndrome
Shereshevsky-Turner syndrome is a chromosomal condition in girls in which one of the two X chromosomes is completely or partially absent. Because of this, the development of the ovaries is disrupted: they are replaced by connective tissue and do not produce enough estrogens. The main manifestations are short stature, absent or incomplete puberty, absence of menstruation and infertility. Often there are structural features of the neck and chest, heart and kidney defects, and hearing loss. Intelligence, as a rule, is preserved, and girls study successfully. The condition is not curable in the sense of eliminating the cause, but timely therapy with growth hormone and sex hormones significantly improves growth, development and quality of life.
МКБ-10: Q96 13 clinics
Edwards syndrome (trisomy 18)
Edwards syndrome is a chromosomal disorder in which cells have an extra eighteenth chromosome. This is not inherited from parents in the usual sense: in the vast majority of cases, the error occurs accidentally during the maturation of the germ cell or during the first divisions of the embryo. Excess genetic material disrupts the formation of organs, so a child is born with multiple defects of the heart, kidneys, brain, a characteristic structure of the hands and low weight. The prognosis, unfortunately, is difficult: most children do not live to see a year, although with the mosaic form, life expectancy is higher. The syndrome can be suspected even during pregnancy based on the results of screening and ultrasound.
МКБ-10: Q91.3 12 clinics
Thalassemia
Thalassemia is a hereditary disease in which the formation of one of the protein chains of hemoglobin is impaired. Red blood cells turn out small, pale and fragile, live less than expected and carry oxygen worse. The forms are very different: when a carrier, a person feels healthy for decades, and only a blood test shows slight anemia with small red blood cells; in severe cases, anemia manifests itself already in the first or second year of life and requires regular transfusions. The disease is common in the Mediterranean, the Middle East, Central and South Asia. The main mistake is to take iron supplements for years: with thalassemia, they do not help and can harm.
МКБ-10: D56 3 clinics
Phenylketonuria
Phenylketonuria is a hereditary metabolic disorder in which the body cannot process the amino acid phenylalanine. It is found in almost all protein foods, and without treatment its levels in the blood increase, and excess damages the developing brain. The child is born outwardly healthy, but without a diet in the first months, persistent mental retardation develops, which can no longer be corrected. That is why newborn screening is carried out all over the world: a drop of blood is taken from the heel in the first days of life. If the diagnosis is made early and the diet is started on time, the child develops normally and is no different from his peers.
МКБ-10: E70.0 12 clinics
Klinefelter syndrome
Klinefelter syndrome is a genetic condition in which a male has an extra X chromosome (karyotype 47,XXY). This is one of the most common chromosomal features in men and at the same time one of the most lately diagnosed: manifestations are often erased, and a significant part of men find out about their diagnosis only during an examination for infertility - or never find out. Meanwhile, early diagnosis makes it possible to start therapy on time and preserve the possibility of paternity.
МКБ-10: Q98.0 11 clinics
Clinics Ташкента, где лечат эти заболевания
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Toshkent
🚶 550 m
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Oybek
🚶 850 m
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Kosmonavtlar
🚶 1.3 km
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Nearest bus stop
🚶 150 m
· buses: 22
Healthy children - Yunusabad branch
Private · Yunusabad district
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Turkiston
🚶 1.5 km
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Yunusobod
🚶 2.0 km
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Shahriston
🚶 2.8 km
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Nearest bus stop
🚶 100 m
· buses: 7
Healthy children - Chilanzar branch
Private · Chilanzar district
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Novza
🚶 400 m
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Mirzo Ulug'bek
🚶 650 m
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Milliy bog'
🚶 1.3 km
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Nearest bus stop
🚶 170 m
· buses: 9Т, 56
Branch No. 3: Birlashgan street, opposite the 4-City Clinical Hospital
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Tuzel
🚶 750 m
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Yashnobod
🚶 800 m
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Texnopark
🚶 1.4 km
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Nearest bus stop
🚶 200 m
· buses: 22
Talabalar street 96, near the Ministry of Higher Education
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Amir Temur xiyoboni
🚶 200 m
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Ming O'rik
🚶 500 m
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O'zbekiston
🚶 900 m
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Nearest bus stop
🚶 240 m
· buses: 19, 37, 38, 51
Birlashgan street, Yashnabad district, Tashkent Landmark: opposite the 4-City Clinical Hos...
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Yashnobod
🚶 1.2 km
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Tuzel
🚶 1.3 km
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Texnopark
🚶 1.6 km
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Nearest bus stop
🚶 180 m
· buses: 18, 30, 44, 49
Здоровые дети (Мирзо-Улугбекский филиал)
Медицинский центр · Mirzo-Ulugbek district
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Pushkin
🚶 1000 m
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Hamid Olimjon
🚶 1.0 km
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Do'stlik
🚶 2.0 km
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Nearest bus stop
🚶 110 m
· buses: 21
Здоровые дети (Sergeliйский филиал)
Медицинский центр · Sergeli district
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Yangihayot
🚶 2.0 km
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Sergeli
🚶 3.0 km
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Nearest bus stop
🚶 180 m
· buses: 59
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Oybek
🚶 2.4 km
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Kosmonavtlar
🚶 2.6 km
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Novza
🚶 2.9 km
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Nearest bus stop
🚶 70 m
· buses: 2, 11, 12, 40, 45, 47
Center for Reproductive Medicine
Медицинский центр · Almazar district
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Minor
🚶 2.4 km
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Bodomzor
🚶 2.4 km
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Shahriston
🚶 2.5 km
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Nearest bus stop
🚶 180 m
· buses: 5
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G'afur G'ulom
🚶 900 m
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Chorsu
🚶 1.2 km
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Alisher Navoiy
🚶 1.4 km
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Nearest bus stop
🚶 260 m
· buses: 17, 43
Akfa Medline - medical center in Tashkent
Private · Almazar district
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Beruniy
🚶 500 m
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Tinchlik
🚶 1.1 km
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Chorsu
🚶 2.9 km
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Nearest bus stop
🚶 190 m
· buses: 31, 34
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Beruniy
🚶 3.6 km
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Nearest bus stop
🚶 170 m
· buses: 42
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Nearest bus stop
🚶 30 m
· buses: 1, 17, 25
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Mashinasozlar
🚶 1.1 km
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Do'stlik
🚶 1.1 km
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Hamid Olimjon
🚶 1.6 km
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Nearest bus stop
🚶 50 m
· buses: 28
City Clinical Hospital of Emergency Medical Care (Emergency)
State · Chilanzar district
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Olmazor
🚶 3.2 km
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Chilonzor
🚶 3.2 km
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Mirzo Ulug'bek
🚶 3.6 km
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Nearest bus stop
🚶 320 m
· buses: 13, 17T, 33
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Olmazor
🚶 1.2 km
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Chilonzor
🚶 1.7 km
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Mirzo Ulug'bek
🚶 2.5 km
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Nearest bus stop
🚶 310 m
· buses: 8, 41
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Olmazor
🚶 1.2 km
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Chilonzor
🚶 1.7 km
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Mirzo Ulug'bek
🚶 2.5 km
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Nearest bus stop
🚶 260 m
· buses: 8, 41
Research Institute of Hematology and Blood Transfusion
Медицинский центр · Chilanzar district
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Olmazor
🚶 2.6 km
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Chilonzor
🚶 2.7 km
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O'zgarish
🚶 2.8 km
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Nearest bus stop
🚶 80 m
· buses: 38, 40, 57, 58
Research Institute of Hematology and Blood Transfusion
State · Chilanzar district
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Chilonzor
🚶 550 m
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Mirzo Ulug'bek
🚶 800 m
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Olmazor
🚶 1.5 km
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Nearest bus stop
🚶 60 m
· buses: 34, 56
Genotexnologiya - Medical Center
Private · Shaykhantakhur district
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Chorsu
🚶 1.5 km
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Tinchlik
🚶 1.9 km
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Milliy bog'
🚶 2.1 km
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Nearest bus stop
🚶 190 m
· buses: 20, 27, 35, 46, 53
AKFA Medline University Hospital (AMUH) - Inpatient
Private · Almazar district
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Beruniy
🚶 500 m
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Tinchlik
🚶 1.1 km
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Chorsu
🚶 2.9 km
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Nearest bus stop
🚶 190 m
· buses: 31, 34
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Olmazor
🚶 1.8 km
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Chilonzor
🚶 2.0 km
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Mirzo Ulug'bek
🚶 2.7 km
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Nearest bus stop
🚶 20 m
· buses: 2, 9Т, 13, 17T, 41, 56
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Oybek
🚶 1.2 km
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Kosmonavtlar
🚶 1.5 km
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O'zbekiston
🚶 1.8 km
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Nearest bus stop
🚶 110 m
· buses: 18, 38, 57, 58
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Oybek
🚶 300 m
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Kosmonavtlar
🚶 450 m
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O'zbekiston
🚶 950 m
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Nearest bus stop
🚶 160 m
· buses: 57
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Hamid Olimjon
🚶 1.5 km
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Mashinasozlar
🚶 1.5 km
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Ming O'rik
🚶 1.7 km
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Nearest bus stop
🚶 240 m
· buses: 14
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Minor
🚶 900 m
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Bodomzor
🚶 1.0 km
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Abdulla Qodiriy
🚶 1.3 km
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Nearest bus stop
🚶 320 m
· buses: 35
Research Institute of Phthisiology and Pulmonology
State · Shaykhantakhur district
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Mirzo Ulug'bek
🚶 2.2 km
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Novza
🚶 2.4 km
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Chilonzor
🚶 2.5 km
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Nearest bus stop
🚶 160 m
· buses: 43
ProfMedService medical center in Tashkent
Private · Yunusabad district
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Yunusobod
🚶 250 m
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Shahriston
🚶 850 m
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Turkiston
🚶 950 m
🚌
Nearest bus stop
🚶 150 m
· buses: 24, 50, 51
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Mirzo Ulug'bek
🚶 1.2 km
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Novza
🚶 1.2 km
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Milliy bog'
🚶 1.8 km
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Nearest bus stop
🚶 20 m
· buses: 2, 9Т
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Mustaqillik maydoni
🚶 750 m
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Alisher Navoiy
🚶 850 m
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O'zbekiston
🚶 1.1 km
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Nearest bus stop
🚶 260 m
· buses: 28, 44, 46, 57
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Alisher Navoiy
🚶 1.1 km
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G'afur G'ulom
🚶 1.3 km
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Abdulla Qodiriy
🚶 1.7 km
🚌
Nearest bus stop
🚶 90 m
· buses: 35
Republican Specialized Scientific and Practical Medical Center of Phthisiology and Pulmonology
State · Shaykhantakhur district
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Novza
🚶 1.8 km
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Milliy bog'
🚶 2.0 km
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Mirzo Ulug'bek
🚶 2.1 km
🚌
Nearest bus stop
🚶 70 m
· buses: 23
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Yunusobod
🚶 1.3 km
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Turkiston
🚶 1.3 km
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Shahriston
🚶 2.0 km
🚌
Nearest bus stop
🚶 70 m
· buses: 43, 51
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Chorsu
🚶 1.2 km
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Tinchlik
🚶 1.8 km
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Xalqlar Do'stligi
🚶 1.9 km
🚌
Nearest bus stop
🚶 50 m
· buses: 20, 27, 35, 46, 53
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Buyuk Ipak Yo'li
🚶 200 m
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Pushkin
🚶 1.8 km
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Hamid Olimjon
🚶 2.8 km
🚌
Nearest bus stop
🚶 70 m
· buses: 1, 24
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Quyliq
🚶 1.4 km
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Matonat
🚶 1.6 km
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Yangiobod
🚶 1.7 km
🚌
Nearest bus stop
🚶 60 m
· buses: 15, 26
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Oybek
🚶 450 m
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Kosmonavtlar
🚶 450 m
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O'zbekiston
🚶 950 m
🚌
Nearest bus stop
🚶 40 m
· buses: 18, 38, 55, 58
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Choshtepa
🚶 2.8 km
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O'zgarish
🚶 3.2 km
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Oybek
🚶 3.6 km
🚌
Nearest bus stop
🚶 280 m
· buses: 9Т, 12
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