All articles starting with F
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Familial hyperaldosteronism type II
Familial hyperaldosteronism type II (FH-II, FH2) is an autosomal dominant, non-glucocorticoid-remediable form of primary aldosteronism caused by gain-of-function CLCN2 chloride channel mutations, clinically indistinguishable from sporadic PA, about 6% of cases, treated with mineralocorticoid receptor antagonists.
Familial hyperaldosteronism type III
Familial hyperaldosteronism type III (FH-III) is an inherited primary aldosteronism caused by germline KCNJ5 mutations in the Kir3.4/GIRK4 potassium channel, causing childhood-onset severe hypertension, hypokalemia, hybrid steroids, and bilateral adrenal hyperplasia, sometimes requiring bilateral adrenalectomy.
Familial Hyperalphalipoproteinemia
Familial hyperalphalipoproteinemia (HALP1, ORPHA:181428) is a rare autosomal dominant disorder of very high HDL cholesterol, linked to CETP, SCARB1, and APOC3 variants, usually asymptomatic, with paradoxically variable cardiovascular risk.
Familial hypercholanemia
Familial hypercholanemia (hereditary hypercholanemia) is a very rare autosomal recessive disorder with elevated serum bile acids, itching, and fat malabsorption, reported in the Old Order Amish; genes include EPHX1, BAAT, and TJP2 (OMIM 607748).
Familial hypercholesterolemia
Familial hypercholesterolemia (FH) is an inherited disorder causing very high LDL cholesterol from birth and premature heart disease, mainly from LDLR, APOB, PCSK9, or APOE variants; affects about 1 in 311 people and is treated with statins and cascade screening.
Familial hyperprolactinemia
Familial hyperprolactinemia (familial isolated prolactin receptor deficiency, OMIM 615555) is a rare autosomal dominant disorder with persistently high prolactin in multiple family members, caused by germline loss-of-function PRLR mutations, without pituitary tumor.
Familial hyperthyroidism due to mutations in TSH receptor
Familial hyperthyroidism due to mutations in TSH receptor (FNAH, hereditary toxic thyroid hyperplasia, OMIM 609152): rare autosomal dominant non-autoimmune hyperthyroidism from constitutively activating germline TSHR mutations, with goiter, variable onset, and relapsing course treated by total thyroid ablation.
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia (FHH, familial benign hypercalcemia) is an autosomal dominant, usually asymptomatic disorder of CASR, GNA11, or AP2S1 genes causing lifelong mild hypercalcemia, low urine calcium, and risk of misdiagnosis as primary hyperparathyroidism.
Familial infantile bilateral striatal necrosis
Familial infantile bilateral striatal necrosis (FBSN) is a rare inherited disorder causing degeneration of the basal ganglia, with developmental regression and dystonia beginning in infancy.
Familial intestinal malrotation
Familial intestinal malrotation (ORPHA:508410, ICD-10 Q43.3) is a rare familial gut malformation from failed embryonic rotation around the superior mesenteric artery, causing volvulus risk; inheritance unknown, mostly sibling recurrence.
Familial intraosseous vascular malformation
Familial intraosseous vascular malformation (VMOS, VMPI, OMIM 606893) is an ultra-rare autosomal recessive ELMO2-related venous malformation of craniofacial bones, causing progressive jaw and skull enlargement, midline defects, and life-threatening bleeding.
Familial isolated congenital asplenia
Familial isolated congenital asplenia (isolated congenital asplenia, OMIM 271400) is a rare autosomal dominant primary immunodeficiency in which people are born without a spleen and no other defects, causing pneumococcal sepsis risk; RPSA mutations cause about 40 percent of cases.
Familial isolated dilated cardiomyopathy
Familial isolated dilated cardiomyopathy (FDC, ORPHA:154), also called familial or idiopathic DCM: inherited left ventricular dilation with systolic dysfunction, usually autosomal dominant, genetically identified in 30-40% of cases, most often TTN or LMNA.
Familial isolated hyperparathyroidism
Familial isolated hyperparathyroidism (FIHP, also called FIHPT) is a rare hereditary condition in which overactive parathyroid glands overproduce parathyroid hormone, raising blood calcium and causing kidney stones and osteoporosis.
Familial isolated hypoparathyroidism
Familial isolated hypoparathyroidism (FIH, OMIM 146200) is a rare genetic disorder causing hypocalcemia from insufficient bioactive PTH without syndromic features; genes include PTH, GCM2, SOX3, CASR, GNA11, AIRE, with autosomal dominant, recessive, or X-linked inheritance.
Familial isolated pituitary adenoma
Familial isolated pituitary adenoma (FIPA) is an autosomal dominant predisposition to pituitary adenomas in two or more family members without MEN1 or Carney complex; AIP mutations explain 15-25% of cases, tumors are young-onset and large, and over 200 families are described.
Familial isolated retinal arteriolar tortuosity
Familial isolated retinal arteriolar tortuosity, also called FRAT, is a rare autosomal dominant eye disease in which retinal arteries become progressively twisted, causing vision loss from exertion-triggered hemorrhages.
Familial juvenile hypertrophy of the breast
Familial juvenile hypertrophy of the breast, or familial juvenile gigantomastia, is a rare condition causing rapid, massive breast growth in girls around puberty, occurring in several family members.
Familial keratoacanthoma
Familial keratoacanthoma (ORPHA:493), also called hereditary or multiple keratoacanthoma and known as Witten-Zak type, is a rare autosomal dominant skin cancer syndrome with multiple self-healing and eruptive keratoacanthoma lesions; fewer than 10 cases reported.
Familial Mediterranean fever
Familial Mediterranean fever (FMF, periodic disease, recurrent polyserositis) is an autosomal recessive autoinflammatory disease from MEFV/pyrin mutations, causing recurrent 12–72-hour fever attacks with serositis, treated with colchicine or IL-1 inhibitors.
Familial melanoma
Familial melanoma (FM, ORPHA:618) is a rare inherited melanoma predisposition syndrome, defined by melanoma in two first-degree relatives; CDKN2A mutations explain 20–40% of families, with increased pancreatic cancer risk.
Familial mesial temporal lobe epilepsy
Familial mesial temporal lobe epilepsy (FMTLE) is an inherited epilepsy syndrome in which seizures arise from the temporal lobe's inner structures, often causing déjà vu.
Familial mitral valve prolapse
Familial mitral valve prolapse (myxomatous MVP, Barlow disease, OMIM 157700) is an autosomal dominant mitral leaflet displacement >2 mm into the left atrium, linked to MMVP1-3 loci, DCHS1, and X-linked FLNA.
Familial monosomy 7 syndrome
Familial monosomy 7 syndrome (ORPHA:495930), a rare autosomal dominant bone marrow failure and leukemia predisposition disorder of infancy and childhood, caused mainly by germline gain-of-function SAMD9/SAMD9L variants, with transient or persistent monosomy 7 and possible spontaneous remission.
Familial multinodular goiter
Familial multinodular goiter (FMNG) is a rare thyroid disorder in which several members of a family develop an enlarged thyroid from multiple nodules, typically beginning in childhood or adolescence.
Familial multiple discoid fibromas
Familial multiple discoid fibromas, also known as familial multiple trichodiscomas, is a rare autosomal dominant skin disorder causing benign whitish papules on the face and ears beginning in childhood.
Familial multiple lipomatosis
Familial multiple lipomatosis (FML), a rare autosomal dominant disorder of multiple painless encapsulated subcutaneous lipomas on trunk and limbs, sparing head and neck; distinct from Madelung disease, onset typically in the third decade.
Familial or sporadic hemiplegic migraine
Familial or sporadic hemiplegic migraine (FHM, SHM) is a rare migraine-with-aura subtype featuring reversible one-sided motor weakness; familial when a first- or second-degree relative is affected, sporadic otherwise, linked to CACNA1A, ATP1A2, and SCN1A.
Familial ossifying fibroma
Familial ossifying fibroma (ORPHA:435329, OMIM 137575), also called hereditary or familial juvenile ossifying fibroma, is a rare autosomal dominant disease with multifocal benign fibro-osseous jaw lesions, mixed radiodense/radiolucent appearance, long-bone anomalies, and considerable recurrence after incomplete surgery.
Familial osteochondritis dissecans
Familial osteochondritis dissecans is a rare genetic skeletal disorder caused by mutations in the ACAN gene, inherited dominantly, that produces joint lesions, short stature, and early osteoarthritis.