https://caregene.ai/assets/ConditionsPage-BFXQ5N1e.js

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1,{name:"Cystic Fibrosis",gene:"CFTR",foundation:"Cystic Fibrosis Foundation",tier:"Large",blurb:"CFTR changes make mucus thick and sticky, mainly affecting the lungs and digestion.",symptoms:["Persistent cough","Lung infections","Trouble breathing","Poor weight gain","Digestive problems"],keywords:"cf mucus pancreas"},{name:"Sickle Cell Disease",gene:"HBB",foundation:"Sickle Cell Disease Association of America",tier:"Large",blurb:"A change in the HBB gene makes red blood cells stiff and sickle shaped, which can block blood flow.",symptoms:["Pain episodes","Anemia","Fatigue","Swelling in hands and feet","Frequent infections"],keywords:"crisis blood hemoglobin"},{name:"Huntington's Disease",gene:"HTT",foundation:"Huntington's Disease Society of America",tier:"Large",blurb:"An expansion in the HTT gene gradually affects movement, thinking, and mood, usually in adulthood.",symptoms:["Involuntary movements","Balance problems","Mood changes","Memory and thinking changes","Difficulty speaking"],keywords:"chorea cognitive"},{name:"Amyotrophic Lateral Sclerosis",gene:"C9orf72 / SOD1",foundation:"The ALS Association",tier:"Large",blurb:"Motor neurons that control voluntary muscles break down, so movement, speech, and breathing weaken over time.",symptoms:["Muscle weakness","Muscle twitching","Slurred speech","Trouble swallowing","Breathing difficulty"],keywords:"als motor neuron"},{name:"Hemophilia",gene:"F8 / F9",foundation:"National Bleeding Disorders Foundation",tier:"Large",blurb:"A missing clotting factor means blood does not clot normally, so bleeding lasts longer.",symptoms:["Easy bruising","Prolonged bleeding","Joint bleeds","Joint pain and swelling","Nosebleeds"],keywords:"clotting factor"},{name:"Fragile X Syndrome",gene:"FMR1",foundation:"National Fragile X Foundation",tier:"Established",blurb:"Silencing of the FMR1 gene affects brain development. It is the most common inherited cause of intellectual disability.",symptoms:["Developmental delay","Learning difficulty","Anxiety","Autism traits","Sensory sensitivity"],keywords:"intellectual disability"},{name:"Angelman Syndrome",gene:"UBE3A",foundation:"Foundation for Angelman Syndrome Therapeutics",tier:"Established",blurb:"Loss of UBE3A function in the brain affects development, movement, and speech.",symptoms:["Developmental delay","Little or no speech","Seizures","Balance and gait problems","Sleep difficulty"],keywords:"ataxia happy demeanor"},{name:"Tuberous Sclerosis Complex",gene:"TSC1 / TSC2",foundation:"TSC Alliance",tier:"Established",blurb:"Changes in TSC1 or TSC2 lead to benign growths in the brain and other organs.",symptoms:["Seizures","Skin changes","Developmental delay","Behavior challenges","Kidney involvement"],keywords:"tumors benign growths brain"},{name:"Prader-Willi Syndrome",gene:"15q11-q13",foundation:"Prader-Willi Syndrome Association USA",tier:"Established",blurb:"Missing gene activity on chromosome 15 affects appetite, growth, muscle tone, and behavior.",symptoms:["Low muscle tone","Excessive appetite","Feeding issues in infancy","Developmental delay","Behavior challenges"],keywords:"hyperphagia growth"},{name:"Neurofibromatosis Type 1",gene:"NF1",foundation:"Children's Tumor Foundation",tier:"Established",blurb:"NF1 changes cause tumors to grow along nerves, along with skin and learning differences.",symptoms:["Cafe-au-lait skin spots","Nerve tumors","Learning difficulty","Bone differences","Vision changes"],keywords:"nf neurofibroma"},{name:"Marfan Syndrome",gene:"FBN1",foundation:"The Marfan Foundation",tier:"Established",blurb:"FBN1 changes affect connective tissue, including the heart, blood vessels, eyes, and skeleton.",symptoms:["Tall, slender build","Long limbs and fingers","Aortic enlargement","Eye lens problems","Flexible joints"],keywords:"aorta connective tissue"},{name:"Ehlers-Danlos Syndrome",gene:"COL5A1",foundation:"The Ehlers-Danlos Society",tier:"Established",blurb:"Differences in connective tissue affect the joints, skin, and blood vessels.",symptoms:["Joint hypermobility","Joint dislocations","Chronic pain","Fragile or stretchy skin","Easy bruising"],keywords:"eds connective tissue"}

1,{name:"Friedreich's Ataxia",gene:"FXN",foundation:"Friedreich's Ataxia Research Alliance",tier:"Established",blurb:"Reduced frataxin protein affects the nervous system and heart, causing progressive loss of coordination.",symptoms:["Balance and coordination loss","Muscle weakness","Slurred speech","Fatigue","Heart involvement"],keywords:"ataxia neurological"},{name:"Myotonic Dystrophy",gene:"DMPK",foundation:"Myotonic Dystrophy Foundation",tier:"Established",blurb:"A repeat expansion affects muscles and other systems, with muscles slow to relax after use.",symptoms:["Muscle weakness","Muscle stiffness","Fatigue","Cataracts","Heart rhythm issues"],keywords:"myotonia"},{name:"Charcot-Marie-Tooth",gene:"PMP22",foundation:"Charcot-Marie-Tooth Association",tier:"Established",blurb:"Inherited nerve changes affect the peripheral nerves that control the feet, legs, and hands.",symptoms:["Foot and leg weakness","Numbness","High arches","Balance problems","Hand weakness"],keywords:"cmt neuropathy"},{name:"Osteogenesis Imperfecta",gene:"COL1A1 / COL1A2",foundation:"Osteogenesis Imperfecta Foundation",tier:"Established",blurb:"Collagen differences make bones fragile and prone to fracture.",symptoms:["Frequent fractures","Bone pain","Low muscle tone","Loose joints","Fatigue"],keywords:"oi brittle bones"},{name:"Epidermolysis Bullosa",gene:"COL7A1",foundation:"debra of America",tier:"Established",blurb:"Fragile skin blisters and tears easily from minor friction.",symptoms:["Skin blistering","Fragile skin","Painful wounds","Feeding difficulty","Infection risk"],keywords:"eb"},{name:"Alpha-1 Antitrypsin Deficiency",gene:"SERPINA1",foundation:"Alpha-1 Foundation",tier:"Established",blurb:"A protein deficiency can affect the lungs and liver.",symptoms:["Shortness of breath","Wheezing","Frequent lung infections","Fatigue","Liver problems"],keywords:"copd emphysema"},{name:"Gaucher Disease",gene:"GBA",foundation:"National Gaucher Foundation",tier:"Established",blurb:"An enzyme shortage lets fatty material build up in organs like the spleen and liver.",symptoms:["Enlarged spleen or liver","Anemia","Fatigue","Easy bruising","Bone pain"],keywords:"enzyme lysosomal"},{name:"Pulmonary Hypertension",gene:"BMPR2",foundation:"Pulmonary Hypertension Association",tier:"Established",blurb:"High blood pressure in the lung arteries makes the heart work harder.",symptoms:["Shortness of breath","Fatigue","Chest pain","Dizziness","Swelling in the legs"],keywords:"ph lungs"},{name:"Phenylketonuria",gene:"PAH",foundation:"National PKU Alliance",tier:"Established",blurb:"The body cannot break down phenylalanine, which can build up and affect the brain without dietary management.",symptoms:["Newborn screened","Requires a special diet","Developmental delay if untreated","Behavior changes if untreated","Eczema"],keywords:"pku metabolic"},{name:"22q11.2 Deletion Syndrome",gene:"22q11.2",foundation:"International 22q11.2 Foundation",tier:"Established",blurb:"A small deletion on chromosome 22 can affect the heart, palate, immune system, and development.",symptoms:["Heart differences","Palate problems","Immune issues","Developmental delay","Feeding difficulty"],keywords:"digeorge velocardiofacial"},{name:"Williams Syndrome",gene:"7q11.23",foundation:"Williams Syndrome Association",tier:"Established",blurb:"A deletion on chromosome 7 affects the heart and development, often with a very social personality.",symptoms:["Heart and vessel narrowing","Developmental delay","Feeding difficulty","Very social personality","Sound sensitivity"],keywords:"cardiovascular"},{name:"Achondroplasia",gene:"FGFR3",foundation:"Little People of America",tier:"Established",blurb:"The most common form of short-limbed dwarfism, from an FGFR3 change affecting bone growth.",symptoms:["Short stature","Shorter limbs","Larger head size","Spinal curvature","Ear infections"],keywords:"skeletal dwarfism"},{name:"Scleroderma",gene:"Multifactorial",foundation:"Scleroderma Foundation",tier:"Established",blurb:"An autoimmune condition that hardens and tightens the skin and can affect internal organs.",symptoms:["Skin hardening","Raynaud color changes","Joint pain","Fatigue","Digestive issues"],keywords:"autoimmune"},{name:"Myasthenia Gravis",gene:"Autoimmune",foundation:"Myasthenia Gravis Foundation of America",tier:"Established",blurb:"An autoimmune condition where nerve-to-muscle signals are disrupted, causing weakness that worsens with activity.",symptoms:["Muscle weakness","Drooping eyelids","Double vision","Trouble swallowing","Fatigue with activity"],keywords:"mg"},{name:"Usher Syndrome",gene:"MYO7A",foundation:"Foundation Fighting Blindness",tier:"Established",blurb:"A genetic condition affecting both hearing and vision, and sometimes balance.",symptoms:["Hearing loss","Vision loss over time","Night blindness","Balance problems","Narrowing vision"],keywords:"retinitis pigmentosa deafblind"},{name:"CDKL5 Deficiency Disorder",gene:"CDKL5",foundation:"Loulou Foundation",tier:"Emerging",blurb:"CDKL5 changes cause early, hard-to-control seizures and developmental differences.",symptoms:["Early-onset seizures","Developmental delay","Low muscle tone","Vision differences","Limited speech"],keywords:"epilepsy"},{name:"SYNGAP1-Related Disorder",gene:"SYNGAP1",foundation:"SynGAP Research Fund",tier:"Emerging",blurb:"SYNGAP1 changes affect brain synapses, leading to developmental delay, epilepsy, and autism traits.",symptoms:["Developmental delay","Seizures","Autism traits","Low muscle tone","Speech delay"],keywords:"intellectual disability"},{name:"Glut1 Deficiency Syndrome",gene:"SLC2A1",foundation:"Glut1 Deficiency Foundation",tier:"Emerging",blurb:"The brain cannot get enough glucose for energy, which can cause seizures and movement problems.",symptoms:["Seizures","Movement problems","Developmental delay","Often helped by ketogenic diet","Coordination issues"],keywords:"glut1"}

1,{name:"Cornelia de Lange Syndrome",gene:"NIPBL",foundation:"CdLS Foundation",tier:"Emerging",blurb:"A developmental condition affecting growth, limbs, and learning.",symptoms:["Growth delay","Developmental delay","Limb differences","Feeding difficulty","Behavior challenges"],keywords:"cdls"},{name:"CHARGE Syndrome",gene:"CHD7",foundation:"CHARGE Syndrome Foundation",tier:"Emerging",blurb:"A pattern of features that can affect the eyes, heart, hearing, and growth.",symptoms:["Eye coloboma","Heart differences","Hearing loss","Breathing or swallowing issues","Growth delay"],keywords:"atresia"},{name:"Kabuki Syndrome",gene:"KMT2D",foundation:"All Things Kabuki",tier:"Emerging",blurb:"A developmental condition with distinctive features, affecting growth, heart, and immunity.",symptoms:["Developmental delay","Feeding difficulty","Heart differences","Frequent infections","Low muscle tone"],keywords:"distinctive features"},{name:"Smith-Magenis Syndrome",gene:"RAI1",foundation:"PRISMS",tier:"Emerging",blurb:"A developmental condition often marked by disrupted sleep and behavior challenges.",symptoms:["Sleep disturbance","Developmental delay","Behavior challenges","Self-injury","Speech delay"],keywords:"sms"},{name:"Cri du Chat Syndrome",gene:"5p deletion",foundation:"5p- Society",tier:"Emerging",blurb:"A deletion on chromosome 5 affecting development, often with a high-pitched cry in infancy.",symptoms:["High-pitched cry","Developmental delay","Low muscle tone","Feeding difficulty","Speech delay"],keywords:"cry 5p"},{name:"Wolf-Hirschhorn Syndrome",gene:"4p deletion",foundation:"4p- Support Group",tier:"Emerging",blurb:"A deletion on chromosome 4 affecting growth, development, and often seizures.",symptoms:["Seizures","Growth delay","Developmental delay","Low muscle tone","Feeding difficulty"],keywords:"4p"},{name:"Sturge-Weber Syndrome",gene:"GNAQ",foundation:"The Sturge-Weber Foundation",tier:"Emerging",blurb:"A condition with a port-wine birthmark that can also affect the brain and eyes.",symptoms:["Port-wine birthmark","Seizures","Glaucoma","Developmental delay","Headaches"],keywords:"neurological"},{name:"Aicardi Syndrome",gene:"Unknown",foundation:"Aicardi Syndrome Foundation",tier:"Emerging",blurb:"A rare condition affecting brain structure, usually in girls, with seizures early in life.",symptoms:["Infantile spasms","Seizures","Vision differences","Developmental delay","Low muscle tone"],keywords:"brain"},{name:"Batten Disease",gene:"CLN genes",foundation:"Batten Disease Support & Research Association",tier:"Emerging",blurb:"A group of inherited conditions affecting the nervous system, with progressive changes over time.",symptoms:["Vision loss","Seizures","Cognitive decline","Movement problems","Loss of speech"],keywords:"ncl"},{name:"Niemann-Pick Disease",gene:"NPC1 / SMPD1",foundation:"National Niemann-Pick Disease Foundation",tier:"Emerging",blurb:"A lysosomal condition where fatty substances build up in cells, affecting organs and the nervous system.",symptoms:["Enlarged liver or spleen","Movement problems","Developmental changes","Difficulty swallowing","Coordination loss"],keywords:"lysosomal"},{name:"Fabry Disease",gene:"GLA",foundation:"Fabry Support & Information Group",tier:"Emerging",blurb:"An enzyme shortage lets a fatty substance build up, affecting the skin, kidneys, and heart.",symptoms:["Pain in hands and feet","Skin spots","Reduced sweating","Kidney involvement","Heart involvement"],keywords:"enzyme lysosomal"},{name:"Pompe Disease",gene:"GAA",foundation:"United Pompe Foundation",tier:"Emerging",blurb:"An enzyme shortage lets glycogen build up in muscles, affecting movement and breathing.",symptoms:["Muscle weakness","Breathing difficulty","Low muscle tone","Feeding difficulty","Heart involvement"],keywords:"glycogen enzyme"},{name:"Wilson Disease",gene:"ATP7B",foundation:"Wilson Disease Association",tier:"Emerging",blurb:"Copper builds up in the body, mainly affecting the liver and brain.",symptoms:["Liver problems","Tremor","Movement changes","Mood or behavior changes","Fatigue"],keywords:"copper"},{name:"Alagille Syndrome",gene:"JAG1",foundation:"Alagille Syndrome Alliance",tier:"Emerging",blurb:"A condition affecting the liver's bile ducts, along with the heart and other systems.",symptoms:["Jaundice","Intense itching","Poor growth","Heart differences","Feeding difficulty"],keywords:"bile ducts"},{name:"Ataxia-Telangiectasia",gene:"ATM",foundation:"A-T Children's Project",tier:"Emerging",blurb:"A condition affecting coordination and the immune system, with progressive loss of balance.",symptoms:["Balance and coordination loss","Slurred speech","Frequent infections","Fatigue","Movement changes"],keywords:"ataxia immune"},{name:"Von Hippel-Lindau",gene:"VHL",foundation:"VHL Alliance",tier:"Emerging",blurb:"An inherited condition that raises the risk of tumors and cysts in several organs.",symptoms:["Eye or brain tumors","Kidney cysts or tumors","Headaches","Balance problems","Vision changes"],keywords:"adrenal"},{name:"Primary Ciliary Dyskinesia",gene:"DNAI1",foundation:"PCD Foundation",tier:"Emerging",blurb:"Tiny hair-like cilia do not move mucus properly, leading to chronic lung and sinus problems.",symptoms:["Chronic cough","Frequent lung infections","Sinus congestion","Ear infections","Breathing difficulty"],keywords:"pcd cilia"},{name:"Maple Syrup Urine Disease",gene:"BCKDH",foundation:"MSUD Family Support Group",tier:"Emerging",blurb:"The body cannot break down certain amino acids, which requires careful dietary management from birth.",symptoms:["Newborn screened","Requires a special diet","Feeding difficulty","Lethargy if untreated","Developmental risk if untreated"],keywords:"msud metabolic amino acid"},{name:"Galactosemia",gene:"GALT",foundation:"Galactosemia Foundation",tier:"Emerging",blurb:"The body cannot process galactose, a sugar in milk, which requires a galactose-free diet.",symptoms:["Newborn screened","Requires a special diet","Feeding difficulty","Liver involvement if untreated","Developmental risk if untreated"],keywords:"metabolic"}

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Request your condition below and we'll reach out to its foundation."})]}),e.jsxs("p",{className:"mt-10 text-center max-w-3xl mx-auto",style:{fontSize:"var(--text-sm)",color:"var(--text-secondary)"},children:["This roadmap reflects conditions with active patient communities, not a fixed launch order. 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