All articles starting with F
15,892 articles
Familial anetoderma
Familial anetoderma (hereditary anetoderma, hereditary macular atrophy) is an extremely rare genetic skin disease with elastin loss causing flaccid skin patches, inherited autosomal dominantly or recessively, reported in about 12 families.
Familial angiolipomatosis
Familial angiolipomatosis (angiolipoma microthromboticum, OMIM 206550) is a rare hereditary disorder of multiple benign subcutaneous angiolipomas, fat-and-capillary tumors with fibrin microthrombi, on the arms, trunk, and legs, excised surgically.
Familial articular hypermobility syndrome
Familial articular hypermobility syndrome (ORPHA:2295, OMIM 147900), also called familial joint instability syndrome, is a rare autosomal dominant disease causing generalized joint laxity, recurrent major-joint dislocations, and early degenerative changes, with absent skin abnormalities.
Familial atrial myxoma
Familial atrial myxoma, also called familial cardiac myxoma, is a rare autosomal dominant atrial tumor linked to Carney complex and PRKAR1A mutations, younger onset, right-sided location, and 12-22% recurrence versus 1-3% sporadic.
Familial atypical multiple mole melanoma syndrome
FAMMM syndrome, also called dysplastic nevus syndrome, is an autosomal dominant CDKN2A (9p21) disorder with over 50 often atypical nevi, high melanoma risk, and pancreatic cancer predisposition in some kindreds.
Familial bicuspid aortic valve
Familial bicuspid aortic valve (familial BAV), a rare autosomal dominant aortic malformation defined by a two-leaflet aortic valve in at least 2 first-degree relatives, with high heritability, NOTCH1 and other genes, and recommended family echocardiographic screening.
Familial calcium pyrophosphate deposition
Familial calcium pyrophosphate deposition (familial CPPD, hereditary chondrocalcinosis) is a rare autosomal dominant disease causing early-onset (20-40 years) joint cartilage calcification from ANKH, CCAL1, or TNFRSF11B mutations, in about 100 families worldwide.
Familial cancer
Familial cancer: cancer clustering in two or more family members, from unidentified familial risk to hereditary syndromes like BRCA1/2 and Lynch syndrome; also a Springer journal (ISSN 1389-9600).
Familial cerebral cavernous malformation
Familial cerebral cavernous malformation (FCCM) is a hereditary neurovascular condition causing multiple vascular lesions in the brain and spinal cord, inherited in an autosomal dominant manner.
Familial Chilblain lupus
Familial chilblain lupus (FCL, OMIM 610448, 614415) is a rare autosomal dominant monogenic cutaneous lupus with cold-induced acral lesions from childhood, caused by TREX1, SAMHD1, or STING mutations.
Familial chylomicronemia syndrome
Familial Chylomicronemia Syndrome (FCS) is an autosomal recessive genetic disorder where lipoproteins accumulate, causing severe hypertriglyceridemia and pancreatitis, managed by strict diet and drugs like Olezarsen.
Familial cold urticaria
Familial cold urticaria (FCAS, familial cold autoinflammatory syndrome, FCU) is the mildest CAPS subtype: an autosomal dominant NLRP3 disorder causing cold-triggered rash, fever, and arthralgia, with a negative ice cube test.
Familial colorectal cancer Type X
Familial colorectal cancer Type X (FCCTX, FCCX): colorectal cancer families meeting Amsterdam Criteria I but with mismatch repair-proficient, microsatellite-stable tumors, unlike Lynch syndrome; lower CRC risk (SIR 2.3), later onset, unknown genetic cause.
Familial combined hypolipidemia
Familial combined hypolipidemia (FHBL2, OMIM 605019), also called ANGPTL3 deficiency, a rare autosomal recessive panhypolipidemia with low LDL-C, HDL-C, triglycerides, apoB, and apoA-I, benign, no fatty liver, reduced cardiovascular risk.
Familial congenital mirror movements
Familial congenital mirror movements, also known as hereditary or isolated congenital mirror movements, is a rare inherited disorder where one hand involuntarily mirrors the other's movements.
Familial cortical myoclonus
Familial cortical myoclonus (FCM, OMIM 614937), a rare autosomal dominant adult-onset cortical myoclonus without seizures, linked to NOL3; distinct from FAME/BAFME/FCMTE epileptic syndromes caused by TTTTA/TTTCA repeat expansions.
Familial cutaneous collagenoma
Familial cutaneous collagenoma (FCC), also called familial collagenoma, is a rare autosomal dominant connective tissue nevus with multiple collagen-rich nodules on the upper back from adolescence, sometimes with cardiac anomalies.
Familial digital arthropathy-brachydactyly
Familial digital arthropathy-brachydactyly (FDAB, OMIM 606835) is a rare autosomal dominant TRPV4-related disorder causing painful deforming arthropathy of finger and toe joints with progressive shortening of middle and distal phalanges, first described in 2002.
Familial dysautonomia
Familial dysautonomia (Riley-Day syndrome, HSAN III) is a rare autosomal recessive sensory and autonomic neuropathy of Ashkenazi Jews, caused by an ELP1 founder mutation, present from birth with absent tears, autonomic crises, and reduced life expectancy.
Familial dyskinesia and facial myokymia
Familial dyskinesia and facial myokymia, also described as ADCY5-related dyskinesia, is a rare inherited disorder causing chorea, dystonia, and myoclonus of the limbs and face, usually starting in childhood and often persisting during sleep.
Familial encephalopathy with neuroserpin inclusion bodies
FENIB (familial encephalopathy with neuroserpin inclusion bodies, neuroserpinosis) is a rare autosomal dominant SERPINI1 dementia-epilepsy disease in which mutant neuroserpin polymers form Collins bodies in neurons; fewer than 20 cases reported.
Familial episodic pain syndrome
Familial episodic pain syndrome (FEPS) is a rare inherited nerve disorder causing recurrent intense pain episodes in the upper body or lower limbs, triggered by cold, fasting, or exertion.
Familial expansile osteolysis
Familial expansile osteolysis (FEO, McCabe disease, MIM 174810) is an ultra-rare autosomal dominant bone dysplasia caused by TNFRSF11A/RANK exon 1 tandem duplications, causing childhood deafness, tooth root resorption, and progressive appendicular osteolysis with fractures.
Familial exudative vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR, Criswick-Schepens syndrome) is a rare hereditary retinal vascular disease causing incomplete peripheral retinal vascularization, inherited autosomal dominant, recessive, or X-linked, with FZD4, LRP5, NDP, and TSPAN12 mutations disrupting Norrin/Wnt signaling.
Familial focal epilepsy with variable foci
Familial focal epilepsy with variable foci (FFEVF, familial partial epilepsy with variable foci) is a rare autosomal dominant epilepsy in which different family members have focal seizures from different cortical regions, usually DEPDC5-related GATOR1/mTOR dysfunction with about 60% penetrance.
Familial generalized lentiginosis
Familial generalized lentiginosis (OMIM 151001, ORPHA 231040) is a rare autosomal dominant skin disorder with widespread 0.2–1 cm lentigines over the body, sparing oral mucosa, without cardiac, endocrine, or gastrointestinal involvement; a locus maps to chromosome 4q21.1-q22.3.
Familial gestational hyperthyroidism
Familial gestational hyperthyroidism (OMIM 603373, ORPHA:99819) is a rare autosomal dominant disorder in which a heterozygous TSHR mutation on chromosome 14q31 makes the TSH receptor hypersensitive to hCG, causing hyperemesis gravidarum and hyperthyroidism during pregnancy with normal hCG and no ophthalmopathy.
Familial glucocorticoid deficiency
Familial glucocorticoid deficiency (FGD, ACTH resistance, isolated glucocorticoid deficiency) is a rare autosomal recessive adrenal insufficiency in which cortisol is deficient but mineralocorticoids are normal, caused mainly by MC2R, MRAP, and NNT mutations.
Familial hemophagocytic lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis (FHL, familial HLH) is a rare autosomal recessive immune deficiency caused by biallelic PRF1, UNC13D, STX11, or STXBP2 variants, causing defective cytotoxic lymphocyte killing, IFN-gamma-driven hyperinflammation, and requiring etoposide, emapalumab, and HSCT.
Familial hyperaldosteronism type I
Familial hyperaldosteronism type I, or glucocorticoid-remediable aldosteronism (GRA), is an autosomal dominant form of primary aldosteronism caused by a chimeric CYP11B1/CYP11B2 gene, causing early-onset ACTH-regulated hypertension treated with low-dose dexamethasone.