Health Conditions - Genetics Home Reference: F | Published: March 7, 2017

Health Conditions - Genetics Home Reference

Health Conditions

Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.

• F10 deficiency, see factor X deficiency
• F7 deficiency, see factor VII deficiency
• FA, see Friedreich ataxia
• FA, see Fanconi anemia
• FAA, see familial thoracic aortic aneurysm and dissection
• Fabry disease
• Fabry's disease, see Fabry disease
• facial dysmorphism-intellectual deficit-short stature-hearing loss, see Myhre syndrome
• Facio-digito-genital dysplasia, see Aarskog-Scott syndrome
• Facio-genito-popliteal syndrome, see popliteal pterygium syndrome
• facio-scapulo-humeral dystrophy, see facioscapulohumeral muscular dystrophy
• facioauriculovertebral dysplasia, see craniofacial microsomia
• faciocutaneoskeletal syndrome, see Costello syndrome
• Faciogenital dysplasia, see Aarskog-Scott syndrome
• faciooculoacousticorenal syndrome, see Donnai-Barrow syndrome
• faciopalatoosseous syndrome, see otopalatodigital syndrome type 2
• faciopalatoosseous syndrome, see otopalatodigital syndrome type 1
• facioscapulohumeral atrophy, see facioscapulohumeral muscular dystrophy
• facioscapulohumeral muscular dystrophy
• facioscapulohumeral type progressive muscular dystrophy, see facioscapulohumeral muscular dystrophy
• facioscapuloperoneal muscular dystrophy, see facioscapulohumeral muscular dystrophy
• factor II deficiency, see prothrombin deficiency
• factor V deficiency
• factor V Leiden thrombophilia
• factor VII deficiency
• factor X deficiency
• factor XIII deficiency
• FAHN, see fatty acid hydroxylase-associated neurodegeneration
• Fairbank-Keats syndrome, see osteoglophonic dysplasia
• FALDH deficiency, see Sjögren-Larsson syndrome
• familial acoustic neuromas, see neurofibromatosis type 2
• familial acute myeloid leukaemia, see familial acute myeloid leukemia with mutated CEBPA
• familial acute myeloid leukemia with mutated CEBPA
• familial adenomatous polyposis
• familial afibrinogenemia, see congenital afibrinogenemia
• familial Alzheimer disease (FAD), see Alzheimer disease
• familial amyloid nephropathy with urticaria and deafness, see Muckle-Wells syndrome
• familial amyloid polyneuropathy type IV, see lattice corneal dystrophy type II
• familial amyloidosis, Finnish type, see lattice corneal dystrophy type II
• familial aortic aneurysm, see familial thoracic aortic aneurysm and dissection
• familial aortic dissection, see familial thoracic aortic aneurysm and dissection
• familial aplasia of the vermis, see Joubert syndrome
• familial apoceruloplasmin deficiency, see aceruloplasminemia
• familial asymmetric septal hypertrophy, see familial hypertrophic cardiomyopathy
• familial atrial fibrillation
• familial benign chronic pemphigus, see benign chronic pemphigus
• Familial benign giant-cell tumor of the jaw, see cherubism
• familial biparental hydatidiform mole, see recurrent hydatidiform mole
• familial brachial plexus neuritis, see hereditary neuralgic amyotrophy
• familial candidiasis
• familial cavernous hemangioma, see cerebral cavernous malformation
• familial cavernous malformation, see cerebral cavernous malformation
• familial cerebral cavernous angioma, see cerebral cavernous malformation
• familial cerebral cavernous malformation, see cerebral cavernous malformation
• familial chronic mucocutaneous candidiasis, see familial candidiasis
• familial cold autoinflammatory syndrome
• familial cold urticaria, see familial cold autoinflammatory syndrome
• familial cold-induced autoinflammatory syndrome, see familial cold autoinflammatory syndrome
• familial cylindromatosis
• familial cystic parathyroid adenomatosis, see hyperparathyroidism-jaw tumor syndrome
• familial dementia with neuroserpin inclusion bodies, see familial encephalopathy with neuroserpin inclusion bodies
• familial diffuse gastric cancer, see hereditary diffuse gastric cancer
• familial dilated cardiomyopathy
• familial dysautonomia
• familial dyskinesia with facial myokymia, see ADCY5-related dyskinesia
• familial encephalopathy with neuroserpin inclusion bodies
• familial endocrine adenomatosis, see multiple endocrine neoplasia
• familial erythrocytosis
• familial erythromelalgia, see erythromelalgia
• familial erythrophagocytic lymphohistiocytosis, see familial hemophagocytic lymphohistiocytosis
• familial exostoses, see hereditary multiple osteochondromas
• familial exudative vitreoretinopathy
• familial fat-induced hypertriglyceridemia, see familial lipoprotein lipase deficiency
• familial fatal Epstein-Barr infection, see X-linked lymphoproliferative disease
• Familial fibrous dysplasia of jaw, see cherubism
• familial glomerular nephritis with fibronectin deposits, see fibronectin glomerulopathy
• familial glucocorticoid deficiency
• familial gonadotrophin-independent sexual precocity, see familial male-limited precocious puberty
• Familial gout-kidney disease, see uromodulin-associated kidney disease
• Familial gouty nephropathy, see uromodulin-associated kidney disease
• familial granulomatosis, Blau type, see Blau syndrome
• familial gynecomastia due to increased aromatase activity, see aromatase excess syndrome
• familial HDL deficiency
• familial hemiplegic migraine
• familial hemochromatosis, see hereditary hemochromatosis
• familial hemophagocytic histiocytosis, see familial hemophagocytic lymphohistiocytosis
• familial hemophagocytic lymphocytosis, see familial hemophagocytic lymphohistiocytosis
• familial hemophagocytic lymphohistiocytosis
• familial hemophagocytic reticulosis, see familial hemophagocytic lymphohistiocytosis
• familial Hibernian fever, see tumor necrosis factor receptor-associated periodic syndrome
• Familial High Density Lipoprotein Deficiency Disease, see Tangier disease
• familial horizontal gaze palsy with progressive scoliosis, see horizontal gaze palsy with progressive scoliosis
• familial hyperaldosteronism
• familial hypercalciuric hypocalcemia, see autosomal dominant hypocalcemia
• familial hyperchylomicronemia, see familial lipoprotein lipase deficiency
• familial hyperekplexia, see hereditary hyperekplexia
• familial hyperkalemic hypertension, see pseudohypoaldosteronism type 2
• familial hyperkalemic periodic paralysis, see hyperkalemic periodic paralysis
• familial hyperlysinemia, see hyperlysinemia
• familial hyperpotassemia and hypertension, see pseudohypoaldosteronism type 2
• familial hyperreninemic hypoaldosteronism, see corticosterone methyloxidase deficiency
• familial hypertensive hyperkalemia, see pseudohypoaldosteronism type 2
• familial hypertrophic cardiomyopathy
• Familial Hypoalphalipoproteinemia, see Tangier disease
• familial hypoalphalipoproteinemia, see familial HDL deficiency
• familial hypobetalipoproteinemia
• familial hypocalcemia, see autosomal dominant hypocalcemia
• familial hypokalemia-hypomagnesemia, see Gitelman syndrome
• Familial Hypokalemic Periodic Paralysis, see hypokalemic periodic paralysis
• familial idiopathic basal ganglia calcification
• familial idiopathic cardiomyopathy, see familial dilated cardiomyopathy
• familial idiopathic hyperphosphatasemia, see juvenile Paget disease
• familial idiopathic scoliosis associated with congenital encephalopathy, see horizontal gaze palsy with progressive scoliosis
• Familial incomplete male pseudohermaphroditism, type 2, see 5-alpha reductase deficiency
• familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis, see Aicardi-Goutieres syndrome
• familial infantile scoliosis associated with bilateral paralysis of conjugate gaze, see horizontal gaze palsy with progressive scoliosis
• familial infiltrative fibromatosis, see desmoid tumor
• familial isolated hyperparathyroidism
• familial isolated pituitary adenoma
• familial isolated vitamin E deficiency, see ataxia with vitamin E deficiency
• Familial juvenile hyperuricemic nephropathy, see uromodulin-associated kidney disease
• Familial juvenile hyperuricemic nephropathy 2, see REN-related kidney disease
• familial juvenile systemic granulomatosis, see Blau syndrome
• familial LCAT deficiency, see complete LCAT deficiency
• familial lecithin-cholesterol acyltransferase deficiency, see complete LCAT deficiency
• familial lipoprotein lipase deficiency
• familial lobular glomerulopathy, see fibronectin glomerulopathy
• familial LPL deficiency, see familial lipoprotein lipase deficiency
• familial male-limited precocious puberty
• familial Mediterranean fever
• Familial multilocular cystic disease of the jaws, see cherubism
• familial multiple polyposis syndrome, see familial adenomatous polyposis
• familial multiple trichoepitheliomata, see multiple familial trichoepithelioma
• familial myoclonus with renal failure, see action myoclonus–renal failure syndrome
• familial nephrotic syndrome, see congenital nephrotic syndrome
• familial nodular heterotopia, see periventricular heterotopia
• familial nonhemolytic jaundice, see Gilbert syndrome
• familial nonhemolytic unconjugated hyperbilirubinemia, see Crigler-Najjar syndrome
• familial nonpolyposis colon cancer, see Lynch syndrome
• familial osteochondritis dissecans
• familial osteodysplasia, see Hajdu-Cheney syndrome
• familial osteoectasia, see juvenile Paget disease
• familial palmar fibromatosis, see Dupuytren contracture
• familial pancreatitis, see hereditary pancreatitis
• familial paraganglioma syndrome, see hereditary paraganglioma-pheochromocytoma
• familial paraganglioma-pheochromocytoma syndromes, see hereditary paraganglioma-pheochromocytoma
• familial paroxysmal choreoathetosis, see familial paroxysmal nonkinesigenic dyskinesia
• familial paroxysmal dystonia, see familial paroxysmal kinesigenic dyskinesia
• familial paroxysmal kinesigenic dyskinesia
• familial paroxysmal nonkinesigenic dyskinesia
• familial paroxysmal polyserositis, see familial Mediterranean fever
• familial partial lipodystrophy
• familial persistent pulmonary hypertension of the newborn, see alveolar capillary dysplasia with misalignment of pulmonary veins
• familial Pick's disease, see frontotemporal dementia with parkinsonism-17
• familial pityriasis rubra pilaris
• familial polycythemia, see familial erythrocytosis
• familial polymorphic ventricular tachycardia, see catecholaminergic polymorphic ventricular tachycardia
• familial porencephaly
• familial pressure sensitive neuropathy, see hereditary neuropathy with liability to pressure palsies
• familial primary aldosteronism, see familial hyperaldosteronism
• familial primary hyperparathyroidism with multiple ossifying jaw fibromas, see hyperparathyroidism-jaw tumor syndrome
• familial primary hypomagnesemia with hypocalcuria, see hypomagnesemia with secondary hypocalcemia
• familial primary pulmonary hypertension, see pulmonary arterial hypertension
• familial progressive scleroderma, see systemic scleroderma
• familial protracted enteropathy, see microvillus inclusion disease
• familial PRP, see familial pityriasis rubra pilaris
• familial pterygium syndrome, see multiple pterygium syndrome
• familial pyrimidemia, see dihydropyrimidine dehydrogenase deficiency
• familial rectal pain, see paroxysmal extreme pain disorder
• familial recurrent hydatidiform mole, see recurrent hydatidiform mole
• familial renal hypouricaemia, see renal hypouricemia
• familial renal hypouricemia, see renal hypouricemia
• familial restrictive cardiomyopathy
• familial reticuloendotheliosis, see Omenn syndrome
• familial retinal arterial macroaneurysm, see retinal arterial macroaneurysm with supravalvular pulmonic stenosis
• familial TAAD, see familial thoracic aortic aneurysm and dissection
• familial thoracic aortic aneurysm, see familial thoracic aortic aneurysm and dissection
• familial thoracic aortic aneurysm and dissection
• Familial Thrombotic Thrombocytopenia Purpura, see thrombotic thrombocytopenic purpura
• familial tremor, see essential tremor
• familial Turner syndrome, see Noonan syndrome
• familial vascular leukoencephalopathy, see cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
• familial veno-occlusive disease with immunodeficiency, see hepatic veno-occlusive disease with immunodeficiency
• familial visceral xanthomatosis, see lysosomal acid lipase deficiency
• familial white folded mucosal dysplasia, see white sponge nevus
• familial xanthomatosis, see lysosomal acid lipase deficiency
• familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension, see cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
• Fanconi anemia
• Fanconi hypoplastic anemia, see Fanconi anemia
• Fanconi pancytopenia, see Fanconi anemia
• Fanconi panmyelopathy, see Fanconi anemia
• FAP, see familial adenomatous polyposis
• Farber disease, see Farber lipogranulomatosis
• Farber lipogranulomatosis
• Farber's disease, see Farber lipogranulomatosis
• Farber's lipogranulomatosis, see Farber lipogranulomatosis
• Farber-Uzman syndrome, see Farber lipogranulomatosis
• fatty acid hydroxylase-associated neurodegeneration
• fatty aldehyde dehydrogenase deficiency, see Sjögren-Larsson syndrome
• fatty liver, see non-alcoholic fatty liver disease
• FAV, see craniofacial microsomia
• Fazio-Londe disease, see riboflavin transporter deficiency neuronopathy
• Fazio-Londe syndrome, see riboflavin transporter deficiency neuronopathy
• FBCG1, see fibrochondrogenesis
• FBCG2, see fibrochondrogenesis
• FCAS, see familial cold autoinflammatory syndrome
• FCMD, see Fukuyama congenital muscular dystrophy
• FCS syndrome, see Costello syndrome
• FCU, see familial cold autoinflammatory syndrome
• FD, see familial dysautonomia
• FDC, see familial dilated cardiomyopathy
• FDFM, see ADCY5-related dyskinesia
• FDGC, see hereditary diffuse gastric cancer
• FED, see fish-eye disease
• Feingold syndrome
• FEL, see familial hemophagocytic lymphohistiocytosis
• Fellman syndrome, see GRACILE syndrome
• female pattern baldness, see androgenetic alopecia
• female pseudo-Turner syndrome, see Noonan syndrome
• fenestrae parietals symmetricae, see enlarged parietal foramina
• FENIB, see familial encephalopathy with neuroserpin inclusion bodies
• ferritin-related neurodegeneration, see neuroferritinopathy
• FESD, see epilepsy-aphasia spectrum
• fetal face syndrome, see Robinow syndrome
• Fetal iritis syndrome, see Norrie disease
• FEVR, see familial exudative vitreoretinopathy
• FG syndrome
• FGFR3-associated coronal synostosis, see Muenke syndrome
• FGS, see FG syndrome
• FGS1, see FG syndrome
• FH, see familial hyperaldosteronism
• FHA, see familial HDL deficiency
• FHBL, see familial hypobetalipoproteinemia
• FHHt, see pseudohypoaldosteronism type 2
• FHL, see familial hemophagocytic lymphohistiocytosis
• FHLH, see familial hemophagocytic lymphohistiocytosis
• FHS, see Floating-Harbor syndrome
• FIBGC, see familial idiopathic basal ganglia calcification
• fibrin stabilizing factor deficiency, see factor XIII deficiency
• fibrinoid degeneration of astrocytes, see Alexander disease
• fibrochondrogenesis
• fibrochondrogenesis-1, see fibrochondrogenesis
• fibrochondrogenesis-2, see fibrochondrogenesis
• fibrocystic disease of pancreas, see cystic fibrosis
• fibrodysplasia ossificans progressiva
• fibrofolliculomas with trichodiscomas and acrochordons, see Birt-Hogg-Dubé syndrome
• fibronectin glomerulopathy
• fibrous dysplasia with pigmentary skin changes and precocious puberty, see McCune-Albright syndrome
• FIC1 deficiency, see progressive familial intrahepatic cholestasis
• fifth digit syndrome, see Coffin-Siris syndrome
• FIGLU-uria, see glutamate formiminotransferase deficiency
• FIHP, see familial isolated hyperparathyroidism
• filamin-A-associated myxomatous mitral valve disease, see X-linked cardiac valvular dysplasia
• filamin-A-related myxomatous mitral valve dystrophy, see X-linked cardiac valvular dysplasia
• Finnish lactic acidosis with hepatic hemosiderosis, see GRACILE syndrome
• Finnish lethal neonatal metabolic syndrome, see GRACILE syndrome
• Finnish variant late infantile neuronal ceroid lipofuscinosis, see CLN5 disease
• Finnish vLINCL, see CLN5 disease
• FIPA, see familial isolated pituitary adenoma
• first and second branchial arch syndrome, see craniofacial microsomia
• first and second pharyngeal arch syndromes, see craniofacial microsomia
• fish malodor syndrome, see trimethylaminuria
• fish odor syndrome, see trimethylaminuria
• fish-eye disease
• Fisher syndrome, see Guillain-Barré syndrome
• Fishman syndrome (formerly), see encephalocraniocutaneous lipomatosis
• FIVE, see ataxia with vitamin E deficiency
• FJHN, see uromodulin-associated kidney disease
• FLD, see complete LCAT deficiency
• Fletcher factor deficiency, see prekallikrein deficiency
• Fletcher trait, see prekallikrein deficiency
• FLHS, see Floating-Harbor syndrome
• Floating-Harbor syndrome
• FMD, see frontometaphyseal dysplasia
• FMF, see familial Mediterranean fever
• FMR1-related primary ovarian insufficiency, see fragile X-associated primary ovarian insufficiency
• FND, see frontonasal dysplasia
• FNM, see frontonasal dysplasia
• FOAR syndrome, see Donnai-Barrow syndrome
• focal dermal hypoplasia
• focal epilepsies with speech and language disorders, see epilepsy-aphasia spectrum
• focal epilepsy with speech disorder and with or without mental retardation, see epilepsy-aphasia spectrum
• focal hand dystonia, see task-specific focal dystonia
• focal task-specific dystonia, see task-specific focal dystonia
• fOCD, see familial osteochondritis dissecans
• Folic acid transport defect, see hereditary folate malabsorption
• Folling Disease, see phenylketonuria
• Folling's Disease, see phenylketonuria
• FOLR1 deficiency, see cerebral folate transport deficiency
• Fong disease, see nail-patella syndrome
• foramina parietalia permagna, see enlarged parietal foramina
• Forbes disease, see glycogen storage disease type III
• formiminoglutamic aciduria, see glutamate formiminotransferase deficiency
• formiminotransferase deficiency, see glutamate formiminotransferase deficiency
• FOXG1 syndrome
• FOXG1-related disorder, see FOXG1 syndrome
• FOXP2-related speech and language disorder
• FPF, see tumor necrosis factor receptor-associated periodic syndrome
• FPGL, see hereditary paraganglioma-pheochromocytoma
• FPGL/PHEO, see hereditary paraganglioma-pheochromocytoma
• FPL, see familial partial lipodystrophy
• FPO, see otopalatodigital syndrome type 2
• FPO, see otopalatodigital syndrome type 1
• FPP, see enlarged parietal foramina
• FPPH, see pulmonary arterial hypertension
• FPVT, see catecholaminergic polymorphic ventricular tachycardia
• fra(X) syndrome, see fragile X syndrome
• fragile X syndrome
• fragile X tremor/ataxia syndrome, see fragile X-associated tremor/ataxia syndrome
• fragile X-associated primary ovarian insufficiency
• fragile X-associated tremor/ataxia syndrome
• fragile XE syndrome
• Fragilitas ossium, see osteogenesis imperfecta
• FRAM, see retinal arterial macroaneurysm with supravalvular pulmonic stenosis
• Franceschetti-Jadassohn syndrome, see Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
• Franceschetti-Zwahlen-Klein syndrome, see Treacher Collins syndrome
• Fraser syndrome
• Fraser's syndrome, see Fraser syndrome
• Fraser-Francois syndrome, see Fraser syndrome
• Frasier syndrome
• FRAXA syndrome, see fragile X syndrome
• FRAXE intellectual deficit, see fragile XE syndrome
• FRAXE intellectual disability, see fragile XE syndrome
• FRAXE mental retardation syndrome, see fragile XE syndrome
• FRAXE syndrome, see fragile XE syndrome
• FRDA, see Friedreich ataxia
• free sialic acid storage disease, see sialic acid storage disease
• Freeman-Sheldon syndrome
• French type sialuria, see sialuria
• FRHM, see recurrent hydatidiform mole
• Friedreich ataxia
• Friedreich ataxia phenotype with selective vitamin E deficiency, see ataxia with vitamin E deficiency
• Friedreich spinocerebellar ataxia, see Friedreich ataxia
• Friedreich-like ataxia, see ataxia with vitamin E deficiency
• Friedrich's ataxia, see Friedreich ataxia
• FRMD7-related infantile nystagmus, see X-linked infantile nystagmus
• frontometaphyseal dysplasia
• frontonasal dysplasia
• frontonasal dysplasia sequence, see frontonasal dysplasia
• frontonasal malformation, see frontonasal dysplasia
• frontorhiny, see frontonasal dysplasia
• frontotemporal dementia with parkinsonism-17
• frontotemporal lobar degeneration, see GRN-related frontotemporal dementia
• fructose aldolase B deficiency, see hereditary fructose intolerance
• fructose intolerance, see hereditary fructose intolerance
• fructose-1,6-biphosphate aldolase deficiency, see hereditary fructose intolerance
• fructose-1-phosphate aldolase deficiency, see hereditary fructose intolerance
• fructosemia, see hereditary fructose intolerance
• Fryns syndrome
• Fryns-Aftimos syndrome, see Baraitser-Winter syndrome
• FS, see Frasier syndrome
• FSH muscular dystrophy, see facioscapulohumeral muscular dystrophy
• FSHD, see facioscapulohumeral muscular dystrophy
• FSS, see Freeman-Sheldon syndrome
• FTAAD, see familial thoracic aortic aneurysm and dissection
• FTD-3, see CHMP2B-related frontotemporal dementia
• FTD-CHMP2B, see CHMP2B-related frontotemporal dementia
• FTD-GRN, see GRN-related frontotemporal dementia
• FTD-PGRN, see GRN-related frontotemporal dementia
• FTD3, see CHMP2B-related frontotemporal dementia
• FTDP-17, see frontotemporal dementia with parkinsonism-17
• FTDP-17 GRN, see GRN-related frontotemporal dementia
• FTDU-17, see GRN-related frontotemporal dementia
• FTLD, see GRN-related frontotemporal dementia
• FTLD with TDP-43 pathology, see GRN-related frontotemporal dementia
• FTLD-TDP, see GRN-related frontotemporal dementia
• FTSD, see task-specific focal dystonia
• Fuchs atrophy, see Fuchs endothelial dystrophy
• Fuchs corneal dystrophy, see Fuchs endothelial dystrophy
• Fuchs dystrophy, see Fuchs endothelial dystrophy
• Fuchs endothelial corneal dystrophy, see Fuchs endothelial dystrophy
• Fuchs endothelial dystrophy
• Fuchs' endothelial dystrophy, see Fuchs endothelial dystrophy
• Fucosidase deficiency, see fucosidosis
• Fucosidase Deficiency Disease, see fucosidosis
• fucosidosis
• Fukuhara Disease, see myoclonic epilepsy with ragged-red fibers
• Fukuyama CMD, see Fukuyama congenital muscular dystrophy
• Fukuyama congenital muscular dystrophy
• Fukuyama muscular dystrophy, see Fukuyama congenital muscular dystrophy
• Fukuyama syndrome, see Fukuyama congenital muscular dystrophy
• Fukuyama type congenital muscular dystrophy, see Fukuyama congenital muscular dystrophy
• fumarase deficiency
• fumarate hydratase deficiency, see fumarase deficiency
• fumaric aciduria, see fumarase deficiency
• fundus albipunctatus
• fusion of cervical vertebrae, see Klippel-Feil syndrome
• FXPOI, see fragile X-associated primary ovarian insufficiency
• FXS, see fragile X syndrome
• FXTAS, see fragile X-associated tremor/ataxia syndrome