8,704 articles
Familial supernumerary nipples
Familial supernumerary nipples (isolated polythelia, ORPHA:2456, OMIM 163700) is a rare autosomal dominant breast malformation with extra nipples along the milk line in multiple family members, occasionally linked to genitourinary malformations and malignancies.
Familial temporal lobe epilepsy
Familial temporal lobe epilepsy (FTLE, FMTLE, ORPHA:98819) is a genetic focal epilepsy with benign déjà vu or autonomic seizures, adolescent onset, complex or autosomal dominant inheritance, normal MRI, and good drug response.
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection (FTAAD), also called nonsyndromic heritable thoracic aortic disease, is an autosomal dominant predisposition to aortic aneurysm and dissection involving 11 validated genes including ACTA2, TGFBR2, and MYH11, with reduced penetrance and first-degree relative screening recommended.
Familial thrombocytosis
Familial thrombocytosis, also called hereditary thrombocythemia, is a rare autosomal dominant or X-linked recessive disorder with sustained platelets over 450 x 10^9/L caused by germline THPO or MPL mutations, treated with low-dose aspirin.
Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis, also called thyroid dyshormonogenesis (ORPHA:95716), is inherited primary congenital hypothyroidism from defects in thyroid hormone synthesis genes such as TPO, DUOX2, TG, SLC5A5, SLC26A4, DUOXA2, and IYD, usually autosomal recessive, often goitrous, treated with levothyroxine.
Familial tumoral calcinosis
Familial tumoral calcinosis (FTC, OMIM 211900) is a rare autosomal recessive disorder causing juxta-articular calcified masses; hyperphosphatemic forms result from FGF23, GALNT3, or KL mutations disrupting phosphate regulation.
Familial vesicoureteral reflux
Familial vesicoureteral reflux, also called familial VUR, is genetic clustering of vesicoureteral reflux within families; urine flows back from bladder to kidney. Affects 27.4% of siblings and 35.7% of offspring; no single causative gene identified.
Familial visceral myopathy
Familial visceral myopathy, also called hereditary hollow visceral myopathy (ORPHA:2604), is a rare autosomal dominant degeneration of gastrointestinal and urinary smooth muscle causing chronic intestinal pseudo-obstruction, megaduodenum, and megacystis, often linked to ACTG2 mutations.
Fanconi anemia
Fanconi anemia (FA), also called Fanconi pancytopenia, is a rare inherited DNA repair disorder causing bone marrow failure, congenital abnormalities, and high leukemia and solid tumor risk; treated by HSCT, with gene therapy trials for FANCA subtype.
Fanconi Anemia Pathway
Fanconi anemia (FA) pathway, also called the FA-BRCA pathway: a DNA repair pathway for interstrand crosslinks, activated by FANCL/UBE2T monoubiquitination of FANCD2-FANCI and coordinating nucleases, translesion synthesis, and homologous recombination.
Fanconi syndrome
Fanconi syndrome: generalized proximal renal tubule reabsorption failure causing glucosuria, aminoaciduria, phosphaturia, and bicarbonate wasting; hereditary (cystinosis most common) or acquired (drugs, heavy metals); distinct from Fanconi anemia.
Fanconi-Bickel syndrome
Fanconi-Bickel syndrome (FBS), formerly glycogen storage disease XI, is a rare autosomal recessive disorder caused by SLC2A2 mutations, marked by hepatomegaly, short stature, rickets, and renal tubular dysfunction.
Far Eastern tick-borne encephalitis
Far Eastern tick-borne encephalitis (TBEV-FE, formerly Russian spring-summer encephalitis) is the most severe TBE virus subtype, tick-borne via Ixodes persulcatus in far-eastern Russia, China, and Japan, with case fatality around 20% or higher.
Farber disease
Farber disease (Farber lipogranulomatosis, acid ceramidase deficiency) is an ultra-rare autosomal recessive lysosomal storage disorder from ASAH1 mutations, causing ceramide buildup, painful deformed joints, subcutaneous nodules, and hoarseness, usually fatal in infancy.
Farmer lung
Farmer lung (farmer's lung disease, mouldy hay disease) is hypersensitivity pneumonitis from inhaled actinomycete and fungal spores in mouldy hay, straw, or grain; ICD-11 code CA70.0, causing dyspnoea, cough, fever, and possible chronic disability.
Fasciitis or fibromatosis
Fasciitis or fibromatosis (FB51.2) is an ICD-11 fibroblastic disorders code covering nodular fasciitis, also called pseudosarcomatous fibromatosis, a rare benign rapidly growing subcutaneous soft tissue tumor.
Fascioliasis
Fascioliasis, liver fluke disease caused by Fasciola hepatica and F. gigantica, a foodborne zoonotic neglected tropical disease spread by raw watercress and contaminated water, treated with triclabendazole.
FAST (stroke)
FAST (Face, Arms, Speech, Time) is a mnemonic teaching laypeople to spot stroke signs and call an ambulance, developed in 1998 in Newcastle and extended as BE-FAST.
Fat embolism syndrome
Fat embolism syndrome (FES): fat globules entering the circulation after long-bone fractures, orthopedic surgery, or cosmetic fat procedures, causing the triad of hypoxia, neurological dysfunction, and petechial rash 24–72 hours after injury; diagnosis by Gurd criteria, supportive care.
Fat hypertrophy
Fat hypertrophy (ICD-11 EF02.0, insulin-induced lipohypertrophy) is focal enlargement of subcutaneous fat from enlarged adipocytes, caused by repeated insulin injections, corticosteroids, or antiretrovirals, and impairing insulin absorption.
Fat necrosis of breast
Fat necrosis of the breast, also called breast fat necrosis, is a benign inflammatory process of breast fat caused by trauma, surgery, biopsy, or radiation that mimics breast cancer on exam and imaging; diagnosed mainly by mammography, it carries no increased cancer risk.
Fat pad sign
Fat pad sign (sail sign): radiographic displacement of the elbow's intracapsular anterior and posterior fat pads by joint effusion, indicating occult fracture after trauma; posterior pad visibility is always abnormal.
Fatigue
Fatigue: lack of energy and reduced physical or mental capacity, distinct from sleepiness (tendency to fall asleep). Classified as secondary, physiologic, or chronic; measured mainly by rating scales; treated with exercise, sleep hygiene, and cause-directed care.
Fatigue fracture of vertebra
Fatigue fracture of vertebra (ICD-11 FA72.3) is a stress fracture of spinal bone from repetitive submaximal load on normal bone, chiefly affecting the pars interarticularis, pedicle, and sacrum in athletes; distinct from osteoporotic insufficiency fractures.
Fatty acid hydroxylase-associated neurodegeneration
Fatty acid hydroxylase-associated neurodegeneration (FAHN, SPG35) is a very rare autosomal recessive NBIA disorder caused by FA2H mutations, with childhood-onset dystonia, spastic paraplegia, ataxia, optic atrophy, and globus pallidus iron.
Fatty acyl-CoA reductase 1 deficiency
Fatty acyl-CoA reductase 1 deficiency (FAR1 deficiency, PFCRD, RCDP type 4) is a rare autosomal recessive peroxisomal plasmalogen-biosynthesis disorder (FAR1, 11p15.3, OMIM 616154) causing severe intellectual disability, congenital cataracts, early-onset epilepsy, microcephaly, and spastic quadriparesis without rhizomelia.
Fatty liver disease
Fatty liver disease, now called MASLD (formerly NAFLD), is excess liver fat not caused by alcohol, ranging from simple steatosis to MASH with fibrosis; treated with weight loss, resmetirom, and semaglutide.
FD-SAC BAS study
FD-SAC BAS (NCT07754188) is a prospective real-world cohort study at three Chinese centers comparing 30-day stroke or death after flow diverter versus stent-assisted coiling in 274 patients with unruptured wide-neck bifurcation aneurysms.
Febrile infection-related epilepsy syndrome
Febrile infection-related epilepsy syndrome (FIRES), also called AERRPS or DESC, is a rare NORSE-subtype epileptic encephalopathy: super-refractory status epilepticus begins 24 hours to 2 weeks after a febrile illness in previously healthy, mostly school-aged children, leaving drug-resistant epilepsy; incidence about 1 in 1,000,000.
Febrile seizure
Febrile seizure (febrile convulsion): a seizure triggered by fever (≥38°C) in children 6–60 months without CNS infection; affects 2–5% of children, recurs in 30–50%, benign prognosis, antipyretics do not prevent it.