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All articles starting with F

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Familial pancreatic carcinoma

Familial pancreatic carcinoma (familial pancreatic cancer, FPC): pancreatic cancer clustering in families with at least two affected first-degree relatives without a known hereditary syndrome; mostly autosomal dominant, BRCA2/PALB2/ATM in some families, risk up to 32-fold with three or more affected relatives, screened by EUS and MRI.

Familial papillary or follicular thyroid carcinoma

Familial papillary or follicular thyroid carcinoma, or familial nonmedullary thyroid cancer (FNMTC), is differentiated thyroid cancer in two or more first-degree relatives; mostly nonsyndromic, polygenic, possibly more aggressive than sporadic disease.

Familial Parkinson disease

Familial Parkinson disease (ICD-11 8A00.01), hereditary form of PD, about 15% of cases have family history, 5-10% monogenic; caused by LRRK2, SNCA, PRKN, PINK1, PARK7 variants with dominant or recessive inheritance.

Familial paroxysmal ataxia

Familial paroxysmal ataxia, or episodic ataxia (EA), rare autosomal dominant channelopathies with recurrent cerebellar ataxia attacks; EA1 (KCNA1, myokymia) and EA2 (CACNA1A, nystagmus) most common; treated with acetazolamide and 4-aminopyridine.

Familial partial lipodystrophy, Dunnigan type

Familial partial lipodystrophy, Dunnigan type (FPLD2), also called Dunnigan syndrome, is a rare genetic disorder in which fat is lost from the limbs and trunk and accumulates on the face and neck.

Familial partial lipodystrophy, Köbberling type

Familial partial lipodystrophy, Köbberling type (FPLD1, Köbberling syndrome, OMIM 608600) is a very rare lipodystrophy with limb-only fat loss, truncal obesity, no identified gene, Köb index >3.477, and severe insulin resistance.

Familial patent arterial duct

Familial patent arterial duct (ORPHA:466729, OMIM 607411/617035/617039) is a rare autosomal dominant, non-syndromic congenital anomaly in which isolated patent ductus arteriosus recurs in several family members.

Familial peripheral male-limited precocious puberty

Familial peripheral male-limited precocious puberty (FMPP, testotoxicosis, OMIM 176410) is a rare autosomal dominant disorder causing puberty at 2-5 years in boys via activating LHCGR mutations; female carriers are unaffected.

Familial platelet disorder with associated myeloid malignancy

Familial platelet disorder with associated myeloid malignancy (FPDMM, RUNX1-FPD, FPD/AML) is a rare autosomal dominant RUNX1 germline disorder causing thrombocytopenia, platelet dysfunction, bleeding, and a 25-50% lifetime risk of AML, MDS, or lymphoid leukemia.

Familial progressive hyper- and hypopigmentation

Familial progressive hyper- and hypopigmentation (FPHH, OMIM 145250), also called melanosis universalis hereditaria, is a rare autosomal dominant skin pigmentation disorder with progressive blotchy hyperpigmentation, café-au-lait spots, and hypopigmented macules, caused by KITLG gain-of-function variants with genetic heterogeneity.

Familial progressive hyperpigmentation

Familial progressive hyperpigmentation (FPH, melanosis universalis hereditaria, carbon baby syndrome) is a rare autosomal dominant genodermatosis with hyperpigmented patches from birth, linked to KITLG mutations.

Familial pseudohyperkalemia

Familial pseudohyperkalemia (FP, ORPHA:90044, OMIM 609153) is a rare autosomal dominant ABCB6-related red cell trait causing falsely high potassium in blood samples stored below 37°C; patients are asymptomatic and need no treatment.

Familial reactive perforating collagenosis

Familial reactive perforating collagenosis (FRPC, OMIM 216700, ORPHA:79147) is a very rare genetic skin disease with transepidermal elimination of collagen, causing recurrent self-healing keratotic papules from childhood; distinct from the adult acquired form.

Familial renal glucosuria

Familial renal glucosuria (familial renal glycosuria, SGLT2 deficiency, OMIM 233100) is a rare SLC5A2 disorder causing persistent glucosuria with normal blood glucose, usually benign, codominant inheritance.

Familial retinal arterial macroaneurysm

Familial retinal arterial macroaneurysm (FRAM), also called RAMSVPS, is a rare autosomal recessive disorder causing retinal artery aneurysms and pulmonic stenosis, first described in Saudi children in 2002 and caused by IGFBP7 mutations.

Familial short stature

Familial short stature: a normal-variant growth pattern in which a short child grows at a normal rate with short parents, normal bone age, and adult height matching midparental height; distinguished from constitutional delay.

Familial spontaneous pneumothorax

Familial spontaneous pneumothorax (FSP, OMIM 173600): rare autosomal dominant genetic disease causing pleural air accumulation with family history, no lung disease or trauma; FLCN/Birt-Hogg-Dubé in 17-50% of families; 10-12% of spontaneous pneumothorax cases.

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency, also called SPLIS, NPHS14, or SGPL1 deficiency, is an autosomal recessive sphingolipidosis causing steroid-resistant nephrotic syndrome, primary adrenal insufficiency, hypothyroidism, immunodeficiency, and neurologic features.

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.

Familiar

Familiar (familiar spirit): a folklore and early modern witchcraft term for a spirit, usually animal-shaped, assisting a witch or cunning person. English trials fed familiars blood from the witch's mark; the 1604 Act criminalized feeding them; Emma Wilby linked them to shamanism.

Familiar by Thy Side

"Familiar by Thy Side" is episode 6 of Agatha All Along (2024), aired October 16, 2024 on Disney+, written by Jason Rostovsky, directed by Gandja Monteiro. It reveals Teen as Billy Maximoff inside William Kaplan's body and shows his quest to find Tommy on the Witches' Road.

Familiar Touch

Familiar Touch is Sarah Friedland's 2024 American debut drama about octogenarian Ruth (Kathleen Chalfant) entering assisted living with dementia; it won three Venice Orizzonti awards and the 2025 Spirit Award's Someone to Watch.

Familiar Wife (아는 와이프)

Familiar Wife (아는 와이프) is a 2018 tvN Korean time-travel romance drama starring Ji Sung and Han Ji-min, 16 episodes, remade by Fuji TV in 2021 as 知ってるワイフ.