Cystic Fibrosis

A genetic disorder affecting the respiratory and digestive systems. Symptoms include persistent lung infections, difficulty breathing, and poor growth.

Spinal Muscular Atrophy (SMA)

A genetic disease that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. Symptoms range from mild to severe, depending on the type.

Duchenne Muscular Dystrophy (DMD)

A severe type of muscular dystrophy caused by mutations in the dystrophin gene. It leads to progressive muscle degeneration and weakness, primarily affecting boys.

Neuroblastoma

A cancer that arises from immature nerve cells and primarily affects infants and young children. It commonly starts in the adrenal glands and can spread to other parts of the body.

Retinoblastoma

A rare eye cancer that typically affects young children, usually under the age of 5. It develops in the retina and can lead to vision loss if not treated promptly.

Rett Syndrome

A neurodevelopmental disorder almost exclusively affecting females. It causes severe cognitive and physical impairments, including loss of purposeful hand use, seizures, and developmental delays.

Williams Syndrome

A genetic disorder characterized by cardiovascular disease, developmental delays, and a unique personality that combines overfriendliness with high levels of anxiety.

囊性纖維化

一種影響呼吸系統和消化系統的遺傳性疾病。症狀包括持續的肺部感染、呼吸困難和生長不良。

脊髓性肌肉萎縮症（SMA）

一種影響脊髓中運動神經元的遺傳性疾病，導致肌肉無力和萎縮。症狀從輕微到嚴重不等，取決於類型。

杜興氏肌營養不良症（DMD）

一種由肌營養不良蛋白基因突變引起的嚴重肌肉營養不良症。它導致進行性肌肉退化和無力，主要影響男孩。

神經母細胞瘤

一種由未成熟神經細胞引起的癌症，主要影響嬰兒和幼兒。通常起源於腎上腺，並可能擴散到身體其他部位。

視網膜母細胞瘤

一種罕見的眼癌，通常影響5歲以下的幼兒。它發展於視網膜，如果不及時治療，可能導致視力喪失。

雷特氏症

一種幾乎只影響女性的神經發育障礙。它引起嚴重的認知和身體障礙，包括失去有目的的手部使用、癲癇和發育遲緩。

威廉姆斯綜合症

一種遺傳性疾病，其特徵是心血管疾病、發育遲緩和獨特的性格，結合過度友善和高度焦慮。

Angelman Syndrome

A neurogenetic disorder characterized by severe intellectual and developmental disabilities, speech impairment, sleep disturbances, seizures, and a happy, excitable demeanor.

Prader-Willi Syndrome

A genetic disorder resulting from the loss of function of specific genes on chromosome 15. Symptoms include insatiable appetite, leading to obesity, intellectual disability, and short stature.

Noonan Syndrome

A genetic disorder that affects various parts of the body, leading to heart defects, short stature, unique facial features, and developmental delays.

Mucopolysaccharidoses (MPS)

A group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down glycosaminoglycans. Symptoms include skeletal deformities, joint stiffness, and developmental delay.

Tay-Sachs Disease

A fatal genetic disorder most commonly occurring in children, causing progressive damage to the nervous system. Symptoms include muscle weakness, loss of motor skills, and seizures.

Kawasaki Disease

An illness that causes inflammation in blood vessels throughout the body. It primarily affects children under the age of 5 and can lead to heart complications if not treated.

Glycogen Storage Disease (GSD)

A group of inherited disorders affecting glycogen metabolism, leading to issues such as hypoglycemia, growth delay, and muscle cramps.

Fragile X Syndrome

A genetic condition causing intellectual disability, behavioral and learning challenges, and various physical characteristics. It is the most common inherited cause of intellectual disability.

安琪兒症候群

一種神經遺傳疾病，其特徵是嚴重的智力和發育障礙、語言障礙、睡眠障礙、癲癇，以及快樂和興奮的性格。

普瑞德-威利症候群

一種由第15號染色體上特定基因功能喪失引起的遺傳疾病。症狀包括無法控制的食慾，導致肥胖、智力障礙和身材矮小。

努南綜合症

一種影響身體多個部分的遺傳疾病，導致心臟缺陷、身材矮小、獨特的面部特徵和發育遲緩。

黏多醣症（MPS）

一組由於溶酶體酶缺乏或功能障礙導致的代謝性疾病，這些酶是分解糖胺聚糖所需的。症狀包括骨骼畸形、關節僵硬和發育遲緩。

泰-薩克斯病

一種致命的遺傳性疾病，最常見於兒童，導致神經系統的逐漸損傷。症狀包括肌肉無力、運動技能喪失和癲癇。

川崎病

一種導致全身血管發炎的疾病，主要影響5歲以下的兒童，如果不及時治療，可能導致心臟併發症。

糖原儲積病（GSD）

一組影響糖原代謝的遺傳性疾病，導致低血糖、生長遲緩和肌肉痙攣等問題。

脆性X綜合症

一種導致智力障礙、行為和學習挑戰以及各種身體特徵的遺傳病。它是最常見的遺傳性智力障礙原因。

patients. It presents with purplish-red lesions on the skin and internal organs.

Malignant Mesothelioma

Mainly caused by asbestos exposure, affecting the lining of the lungs (pleura), abdomen (peritoneum), or heart (pericardium). Symptoms include chest pain, shortness of breath, and abdominal swelling.

Neuroendocrine Tumors (NETs)

Tumors originating from neuroendocrine cells, which can occur in various organs including the pancreas, lungs, and gastrointestinal tract. Symptoms vary depending on the location and hormones produced by the tumor.

Ewing's Sarcoma

A rare bone or soft tissue cancer primarily affecting adolescents and young adults. Symptoms include localized pain and swelling.

Chordoma

A rare bone cancer that typically occurs along the spine and the base of the skull. Symptoms include pain, neurological deficits, and difficulty walking.

Merkel Cell Carcinoma

A highly aggressive skin cancer that often appears as a firm, painless nodule on sun-exposed areas. It is more common in older adults and those with weakened immune systems.

卡波西氏肉瘤

一種血管腫瘤，常與HIV/AIDS相關，但也見於免疫功能低下的患者。其特徵是在皮膚和內部器官上出現紫紅色病變。

惡性間皮瘤

主要由石棉暴露引起，影響肺（胸膜）、腹部（腹膜）或心臟（心包）的內層。症狀包括胸痛、呼吸急促和腹部腫脹。

神經內分泌腫瘤（NETs）

源自神經內分泌細胞的腫瘤，可發生在胰腺、肺和胃腸道等各種器官。症狀因腫瘤位置和產生的激素而異。

尤因氏肉瘤

一種罕見的骨骼或軟組織癌症，主要影響青少年和年輕成年人。症狀包括局部疼痛和腫脹。

脊索瘤

一種罕見的骨癌，通常發生在脊柱和顱底。症状包括疼痛、神經功能障礙和行走困難。

默克爾細胞癌

一種高度侵襲性的皮膚癌，通常在陽光暴露部位出現為堅硬、無痛的結節。它在老年人和免疫系統減弱的人群中更常見。

Li-Fraumeni Syndrome

A hereditary cancer syndrome caused by mutations in the TP53 gene, increasing the risk of various cancers, including breast cancer, osteosarcoma, and brain tumors.

Von Hippel-Lindau Syndrome (VHL)

A genetic disorder leading to the development of both benign and malignant tumors in multiple organs, including hemangioblastomas in the brain and spine, renal cell carcinoma, and pancreatic cysts.

Cowden Syndrome

Caused by mutations in the PTEN gene, it is characterized by multiple benign growths (hamartomas) and an increased risk of breast, thyroid, and endometrial cancers.

Lynch Syndrome (Hereditary Non-Polyposis Colorectal Cancer, HNPCC)

A genetic condition that significantly increases the risk of colorectal cancer and other cancers such as endometrial, stomach, and ovarian cancers, due to mutations in mismatch repair genes.

Multiple Endocrine Neoplasia Type 1 (MEN1)

A genetic syndrome causing tumors in multiple endocrine glands, such as the parathyroid, pancreas, and pituitary glands.

Multiple Endocrine Neoplasia Type 2 (MEN2)

Caused by mutations in the RET gene, it is associated with medullary thyroid carcinoma, pheochromocytoma, and parathyroid hyperplasia.

Peutz-Jeghers Syndrome

Characterized by gastrointestinal polyps and mucocutaneous pigmentation (dark spots on the lips, mouth, hands, and feet), it increases the risk of cancers in the gastrointestinal tract, pancreas, cervix, ovary, and breast.

李-佛美尼綜合症（Li-Fraumeni Syndrome）

由TP53基因突變引起的遺傳性癌症綜合症，增加了各種癌症的風險，包括乳腺癌、骨肉瘤和腦腫瘤。

馮·希佩爾-林道綜合症（Von Hippel-Lindau Syndrome, VHL）

一種遺傳性疾病，導致多個器官中良性和惡性腫瘤的發生，包括腦和脊柱的血管母細胞瘤、腎細胞癌和胰腺囊腫。

考登綜合症（Cowden Syndrome）

由PTEN基因突變引起的綜合症，特徵是多發性良性生長物（錯構瘤），並增加乳腺癌、甲狀腺癌和子宮內膜癌的風險。

林奇綜合症（遺傳性非息肉病性結直腸癌，HNPCC）

一種遺傳性疾病，由錯配修復基因突變引起，大幅增加結直腸癌及其他癌症的風險，如子宮內膜癌、胃癌和卵巢癌。

多發性內分泌腫瘤1型（MEN1）

一種遺傳性綜合症，導致多個內分泌腺的腫瘤，如甲狀旁腺、胰腺和垂體腺。

多發性內分泌腫瘤2型（MEN2）

由RET基因突變引起，與髓樣甲狀腺癌、嗜鉻細胞瘤和甲狀旁腺增生相關。

佩茨-傑格斯綜合症（Peutz-Jeghers Syndrome）

特徵是胃腸道息肉和粘膜皮膚色素沉著（嘴唇、口腔、手和腳上的黑斑），增加胃腸道、胰腺、子宮頸、卵巢和乳腺癌的風險。

Neurological Disorders

Huntington's Disease: A genetic disorder causing the progressive breakdown of nerve cells in the brain, affecting movement, cognition, and emotions.

Amyotrophic Lateral Sclerosis (ALS): Also known as Lou Gehrig's disease, it is a progressive neurodegenerative disease affecting motor neurons, leading to muscle weakness and atrophy.

Multiple System Atrophy (MSA): A rare neurodegenerative disorder characterized by a combination of symptoms affecting both the autonomic nervous system and movement.

Autoimmune and Inflammatory Diseases

Systemic Lupus Erythematosus (SLE): An autoimmune disease where the body's immune system attacks its own tissues, causing widespread inflammation and tissue damage in the affected organs.

Scleroderma (Systemic Sclerosis): An autoimmune disease characterized by hardening and tightening of the skin and connective tissues, which can also affect internal organs.

Behçet's Disease: A rare disorder causing blood vessel inflammation throughout the body, leading to numerous symptoms including mouth sores, eye inflammation, skin rashes, and genital sores.

Hematological and Oncological Disorders

Polycythemia Vera: A type of blood cancer that causes the bone marrow to make too many red blood cells, leading to thickened blood and an increased risk of clots.

Myelodysplastic Syndromes (MDS): A group of disorders caused by poorly formed or dysfunctional blood cells, often leading to severe anemia, infection, or bleeding.

Castleman Disease: A group of rare disorders involving an overgrowth of cells in the body's lymph nodes.

Metabolic Disorders

Gaucher Disease: A genetic disorder where fatty substances accumulate in cells and certain organs, interfering with normal function.

Fabry Disease: A genetic disorder resulting from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells.

Cardiovascular Diseases

Pulmonary Arterial Hypertension (PAH): High blood pressure in the arteries of the lungs, which can lead to heart failure if untreated.

Takayasu's Arteritis: A rare type of vasculitis that affects large arteries, primarily the aorta and its main branches, leading to artery inflammation and damage.

Other Notable Conditions

Ehlers-Danlos Syndrome (EDS): A group of connective tissue disorders characterized by hypermobile joints, skin that stretches easily, and a tendency to bruise.

Sarcoidosis: An inflammatory disease that affects multiple organs in the body, but mostly the lungs and lymph glands, forming granulomas (tiny clumps of inflammatory cells).

Porphyria: A group of disorders caused by abnormalities in the chemical steps leading to heme production, affecting the nervous system or skin.

神經系統疾病

亨廷頓氏病（Huntington's Disease）：一種遺傳性疾病，導致大腦神經細胞逐漸退化，影響運動、認知和情感。

肌萎縮性側索硬化症（Amyotrophic Lateral Sclerosis, ALS）：也稱為盧·賈里格病，是一種漸進性的神經退行性疾病，影響運動神經元，導致肌肉無力和萎縮。

多系統萎縮症（Multiple System Atrophy, MSA）：一種罕見的神經退行性疾病，特徵是自主神經系統和運動系統的症狀組合。

自身免疫和炎症性疾病

系統性紅斑狼瘡（Systemic Lupus Erythematosus, SLE）：一種自身免疫性疾病，身體的免疫系統攻擊自己的組織，導致受影響器官的廣泛炎症和組織損傷。

硬皮病（系統性硬化症，Scleroderma）：一種自身免疫性疾病，特徵是皮膚和結締組織變硬和收緊，還可能影響內臟器官。

貝赫切特氏病（Behçet's Disease）：一種罕見的疾病，導致全身血管炎症，導致口腔潰瘍、眼睛炎症、皮疹和生殖器潰瘍等多種症狀。

血液和腫瘤疾病

真性紅細胞增多症（Polycythemia Vera）：一種血液癌症，導致骨髓製造過多的紅血球，導致血液變稠並增加血栓風險。

骨髓增生異常綜合症（Myelodysplastic Syndromes, MDS）：一組由血細胞形成不良或功能異常引起的疾病，通常導致嚴重的貧血、感染或出血。

Castleman病（Castleman Disease）：一組罕見的疾病，涉及身體淋巴結細胞過度增生。

代謝疾病

高雪氏病（Gaucher Disease）：一種遺傳性疾病，脂肪物質在細胞和某些器官中積累，干擾正常功能。

法布里病（Fabry Disease）：一種遺傳性疾病，由於一種叫做三己糖基神經醯胺的脂肪在身體細胞中的積累而引起。

心血管疾病

肺動脈高壓（Pulmonary Arterial Hypertension, PAH）：肺動脈中的高血壓，如果不治療，可能導致心力衰竭。

高安氏動脈炎（Takayasu's Arteritis）：一種罕見的血管炎，影響大動脈及其主要分支，導致動脈炎症和損傷。

其他常遇到的病症

埃勒斯-當洛綜合症（Ehlers-Danlos Syndrome, EDS）：一組結締組織疾病，特徵是關節過度活動、皮膚易於伸展和容易瘀傷。

結節病（Sarcoidosis）：一種炎症性疾病，影響身體的多個器官，但主要是肺和淋巴腺，形成肉芽腫（小炎性細胞團）。

卟啉症（Porphyria）：一組由於血紅素生成過程中的化學步驟異常引起的疾病，影響神經系統或皮膚。