endocrine

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an instrument and some pictures with the caption that says cartotid body tumuur
Lyre Sign - Carotid body tumor 【 Most common age of Presentation - 40 to 50 years 】
Genetic disorders  Tay-Sachs disease Monogenic, autosomal recessive Central nervous system degrades, ultimately causing death. Most common among people of Jewish, ... People, Sickle Cell Anemia, Genetic Disorders, Nervous System, Central Nervous System, Chronic Disease, Disease, Disorders
tay-sachs disease - Google Search
Genetic disorders Tay-Sachs disease Monogenic, autosomal recessive Central nervous system degrades, ultimately causing death. Most common among people of Jewish, ...
August 3, 2013: Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human genetic disorder that involves susceptibility to kidney cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles, called fibrofolliculomas. This disorder has been found in over 100 families worldwide, and is inherited in an autosomal dominant pattern. Genetic Diseases, Genetic Disorder, Kidney Cancer, Kidney Disease, Tumor, Tuberous Sclerosis, Medical
Birt–Hogg–Dubé syndrome - Wikipedia
August 3, 2013: Birt–Hogg–Dubé syndrome (BHD), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human genetic disorder that involves susceptibility to kidney cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles, called fibrofolliculomas. This disorder has been found in over 100 families worldwide, and is inherited in an autosomal dominant pattern.
a man with long hair and beard wearing a large headdress in the middle of a field
The Best Way To Travel With Wine in the UK - The Morning Star
Neurofibromatosis refers to a number of inherited conditions that are clinically and genetically distinct and carry a high risk of tumor formation. Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. Which is why looking at family history's before pregnancy is VERY important for all people.
a diagram showing how to use the hypothhetic model of iron absorption regulation
The first paper describing TfR2 hemochromatosis identified two copies of the Y250X nonsense mutation in six patients from two unrelated Sicilian families. Further mutations have since been identified. Most of the patients who have been identified are Italians. However cases have been reported in French and Japanese patients. Hemochromatosis type 3 is considered a rare disorder.
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Spot Diagnosis
Achondroplasia, common cause of dwarfism. Occurs as a sporadic mutation in approximately 75% of cases (associated with advanced paternal age) or may be inherited as an autosomal dominant genetic disorder. Disorder itself is caused by a change in DNA for fibroblast growth factor receptor 3 (FGFR3), which causes an abnormality of cartilage formation. If both parents have achondroplasia, and both parents pass on mutant gene, it is very unlikely that homozygous child will live past a few months.
a little boy smiling and holding his hand up
Mandibulofacial Dysostosis (Treacher Collins Syndrome): Symptoms, Causes and Treatment
Mandibulofacial Dysostosis is a disorder characterized by deformities of the facial bones and skull. It is a rare type of syndrome which is inherited as an autosomal dominant disease.
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Polydactyly - Wikipedia
Polydactyly: extra fingers or toes. Polydactyly is associated with autosomal dominant mutations in single genes, i.e. it is not a multifactorial trait. But mutation in a variety of genes can give rise to polydactyly.
LEKARZKATOWICE: NEFRONOFTYZA (NPHP ang. NEPHRONOPHTISIS) Polycystic Kidney Disease, Polycystic Kidneys, Renal Disease, Renal, Pathology, Kidney, Adult
NEFRONOFTYZA (NPHP ang. NEPHRONOPHTISIS)
LEKARZKATOWICE: NEFRONOFTYZA (NPHP ang. NEPHRONOPHTISIS)
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Enigma Syndrome: Autosomal Dominant Disorder - Leopard Gecko Supplies & Care
enigma syndrome leopard geckos
CADASIL Information Page: National Institute of Neurological Disorders and Stroke (NINDS) Neurological Disorders, Neuropathy, Peripheral Neuropathy, Diabetic Neuropathy, Peripheral Nerve Injury, Genital Herpes, Tinnitus Symptoms, Dyspraxia
All Disorders | National Institute of Neurological Disorders and Stroke
CADASIL Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
August 14, 2013: Cowden syndrome is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer. Cowden syndrome is associated with loss-of-function mutations in PTEN, a tumor suppressor gene, leading to hyperactivity of the mTOR pathway. These mutations lead to characteristic features including macrocephaly, intestinal hamartomatous polyps, and benign skin tumors (multiple trichilemmomas.) Autoimmune Disease, Cowden, Autoimmune
Cowden syndrome - Wikipedia
August 14, 2013: Cowden syndrome is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer. Cowden syndrome is associated with loss-of-function mutations in PTEN, a tumor suppressor gene, leading to hyperactivity of the mTOR pathway. These mutations lead to characteristic features including macrocephaly, intestinal hamartomatous polyps, and benign skin tumors (multiple trichilemmomas.)
Fatal Familia Insomnia is an autosomal dominant inherited prion disease of the brain. This disease results in the complete loss of the ability to sleep. Only 28 families worldwide are known carriers of the FFI gene mutation and the initial mutation is believed to have originated out of Italy in 1765. There is a family in Italy, who are most affected by this disease, and are in the process of coming up with a cure. But as of today, there is no hope once the symptoms of FFI appear. Art, Horror, Don't Care, Insomnia Cures, Scary Eyes, Creepy, Scary, Inner Demons
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Fatal Familia Insomnia is an autosomal dominant inherited prion disease of the brain. This disease results in the complete loss of the ability to sleep. Only 28 families worldwide are known carriers of the FFI gene mutation and the initial mutation is believed to have originated out of Italy in 1765. There is a family in Italy, who are most affected by this disease, and are in the process of coming up with a cure. But as of today, there is no hope once the symptoms of FFI appear.
there are 3 types of gaucher disease . This is the type 2. Trigeminal Neuralgia, Failure To Thrive, Type, Thrive, Quick
there are 3 types of gaucher disease . This is the type 2.