Kesehatan dan Penyakit - Gangguan Genetik
Di sini Anda akan mempelajari beberapa kata dalam bahasa Inggris yang terkait dengan gangguan genetik seperti "albinisme", "hemofilia", dan "distrofi".
Tinjauan
Kartu flash
Ejaan
Kuis
a genetic disorder characterized by connective tissue abnormalities, leading to various physical manifestations including tall stature, long limbs, joint hypermobility, and cardiovascular issues
sindrom Marfan, penyakit Marfan
a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity
neurofibromatosis
Pemantauan rutin sangat penting untuk mendeteksi dan mengelola komplikasi potensial neurofibromatosis.
genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
sindrom Noonan, kelainan genetik Noonan
a genetic disorder with symptoms like insatiable appetite, obesity, intellectual disability, and developmental delays caused by gene deletion or loss of function on chromosome 15
sindrom Prader-Willi, penyakit Prader-Willi
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
sindrom Rett, penyakit Rett
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
penyakit Tay-Sachs, gangliosidosis GM2
Diagnosis penyakit Tay-Sachs sering dikonfirmasi melalui tes genetik.
a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe
talasemia, anemia mediterania
Pemantauan rutin mencegah kelebihan zat besi, komplikasi umum dari thalassemia.
a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics
sindrom Tourette, gangguan Tourette
Sindrom Tourette sering dikaitkan dengan kondisi lain seperti ADHD.
a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin
albinisme
Meskipun tidak ada obat untuk albinisme, alat bantu visual dan perlindungan matahari dapat membantu mengelola tantangan yang terkait.
a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
sindrom Angelman, penyakit Angelman
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
sindrom Apert, penyakit Apert
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
penyakit Charcot-Marie-Tooth, neuropati sensorimotor herediter
Penelitian sedang berlangsung untuk memahami dasar genetik dari penyakit Charcot-Marie-Tooth.
a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands
hiperplasia adrenal kongenital, hiperplasia kelenjar adrenal bawaan
a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications
fibrosis kistik, penyakit fibrosis kistik
Individu dengan fibrosis kistik berisiko mengalami komplikasi seperti diabetes dan penyakit hati.
a genetic condition caused by the presence of an extra copy of chromosome 21, leading to intellectual disabilities, distinct facial features, and potential health issues
sindrom Down, trisomi 21
Orang dengan sindrom Down sering menjalani kehidupan yang memuaskan dan dapat berpartisipasi dalam berbagai kegiatan.
a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
sindrom Ehlers-Danlos, penyakit Ehlers-Danlos
a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage
penyakit Fabry, gangguan Fabry
a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
sindrom X rapuh, sindrom kromosom X rapuh
a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
hemofilia, gangguan perdarahan turunan
a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage
hemokromatosis
Diagnosis hemokromatosis melibatkan tes darah dan tes genetik.
a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences
sindrom Klinefelter
Sindrom Klinefelter biasanya tidak teridentifikasi hingga masa pubertas atau dewasa.
a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges
sindrom Turner
Sindrom Turner disebabkan oleh tidak adanya sebagian atau seluruh salah satu kromosom X.
a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
sindrom Williams, penyakit Williams
a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
penyakit Huntington, korea Huntington
Individu dengan penyakit Huntington mungkin memerlukan terapi fisik dan konseling.
a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
penyakit sel sabit, anemia sel sabit
Perawatan suportif sangat penting bagi individu dengan penyakit sel sabit.
a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles
distrofi
Masalah penglihatan Emily terkait dengan distrofi okular.
a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
penyakit von Willebrand, defisiensi faktor von Willebrand
Gejala penyakit von Willebrand termasuk pendarahan menstruasi berat dan mudah memar.
