Kalusugan at Sakit - Mga Sakit na Genetiko
Dito matututunan mo ang ilang mga salitang Ingles na may kaugnayan sa mga genetic disorder tulad ng "albinism", "hemophilia", at "dystrophy".
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a genetic disorder characterized by connective tissue abnormalities, leading to various physical manifestations including tall stature, long limbs, joint hypermobility, and cardiovascular issues
sindrom ng Marfan, sakit na Marfan
a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity
neurofibromatosis
Ang neurofibromatosis ay sanhi ng mga mutasyon sa partikular na mga gene.
genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
Noonan syndrome, genetic disorder na 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
sindrome ng Prader-Willi, sakit na Prader-Willi
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
sindrome ng Rett, sakit na Rett
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
sakit na Tay-Sachs, GM2 gangliosidosis
Sa kasalukuyan, walang lunas para sa sakit na Tay-Sachs.
a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe
thalassemia, anemyang Mediteraneo
Ang alpha thalassemia ay may kinalaman sa pagbawas o kawalan ng mga alpha globin chains.
a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics
sindrom Tourette, karamdaman sa Tourette
Sa Tourette's syndrome, ang mga tics ay biglaan, mabilis, at paulit-ulit na mga galaw o tunog, na inuri bilang motor o vocal tics.
a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin
albinismo
Ang mga taong may albinismo ay madalas na may napakagaan na balat, buhok, at kulay ng mata.
a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
sindrom ni Angelman, sakit na Angelman
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
sindrome ng Apert, sakit na Apert
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
sakit na Charcot-Marie-Tooth, minanang sensory-motor neuropathy
Ang simula ng Charcot-Marie-Tooth disease ay maaaring mangyari sa pagkabata o pagtanda.
a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands
congenital adrenal hyperplasia, hyperplasia ng adrenal na congenital
a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications
cystic fibrosis, sistik fibrosis
Mahalaga ang suporta mula sa mga pangkat ng pangangalagang pangkalusugan para sa mga indibidwal na may cystic fibrosis.
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
Down syndrome, trisomy 21
Ang Down syndrome ay kinakailangan ng mga kapansanan sa intelektwal at natatanging mga katangian ng mukha.
a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
sindrome ng Ehlers-Danlos, sakit na 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
sakit na Fabry, kaguluhan sa Fabry
a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
sindrom ng marupok na X, sindrom ng marupok na kromosoma X
a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
hemopilya, namamanang sakit sa pagdurugo
a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage
hemochromatosis
Ang hemochromatosis ay pangunahing sanhi ng mga mutasyon sa HFE gene.
a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences
sindrom ng Klinefelter
Ang Klinefelter syndrome ay nangyayari sa humigit-kumulang 1 sa 500 hanggang 1,000 na panganganak ng lalaki.
a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges
Turner syndrome
Ang Turner syndrome ay nangyayari sa humigit-kumulang 1 sa 2,500 live na panganganak ng babae.
a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
sindrome ng Williams, sakit na Williams
a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
sakit na Huntington, korea ng Huntington
Ang Huntington's disease ay sanhi ng isang genetic mutation sa HTT gene.
a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
sakit na sickle cell, anemya ng sickle cell
Ang sickle cell disease ay resulta ng mutation sa HBB gene.
a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles
distropiya
Nakaranas si Jake ng mga hamon dahil sa dystrophy ng kalamnan, na nakaaapekto sa kanyang paggalaw.
a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
sakit na von Willebrand, kakulangan sa factor von Willebrand
Ang mga taong may sakit na von Willebrand ay maaaring makaranas ng madalas na pagdurugo ng ilong.
