All articles starting with H

Hereditary (film)

Hereditary (2018) is Ari Aster's debut supernatural horror film for A24, starring Toni Collette as Annie Graham. After grandmother Ellen's death, a cult summons the demon Paimon into her family; it grossed $90.4M on a $10M budget with 90% on Rotten Tomatoes.

Hereditary amyloidosis with primary renal involvement

Hereditary amyloidosis with primary renal involvement (familial renal amyloidosis, Ostertag type, ORPHA:85450) is a group of rare autosomal dominant amyloidoses, subtypes AApoAI, AApoAII, AFib, and ALys, causing proteinuria and progressive renal failure.

Hereditary angioedema

Hereditary angioedema (HAE), a rare autosomal dominant disorder (~1 in 50,000) of recurrent bradykinin-mediated swelling attacks, usually from C1 inhibitor deficiency (SERPING1); treated with on-demand agents like icatibant and prophylactics like lanadelumab, garadacimab, and donidalorsen.

Hereditary angioedema with C1Inh deficiency

Hereditary angioedema with C1 inhibitor deficiency (HAE-C1-INH, types I and II) is a SERPING1-related genetic disorder causing bradykinin-mediated swelling attacks, treated with C1-INH concentrate, icatibant, ecallantide, or sebetralstat.

Hereditary angioedema with normal C1Inh

Hereditary angioedema with normal C1 inhibitor (HAE-nC1INH), formerly HAE type III, is a bradykinin-mediated hereditary angioedema first described in 2000, with normal C1INH levels, genetic subtypes HAE-FXII, PLG, KNG1, ANGPT1, MYOF, HS3ST6, and expert-opinion-based treatment.

Hereditary arterial and articular multiple calcification syndrome

Hereditary arterial and articular multiple calcification syndrome (CALJA, ACDC) is an autosomal recessive NT5E (CD73 deficiency) disorder causing adult-onset calcification of lower-limb arteries and hand and foot joint capsules, with claudication and early arthritis.

Hereditary atrial fibrillation

Hereditary atrial fibrillation, also called familial or early-onset AF, is atrial fibrillation driven by inherited variants, from monogenic KCNQ1, SCN5A, TTN, and LMNA mutations to polygenic risk, with 2023 guideline Class IIb genetic testing for onset before age 45.

Hereditary ATTR amyloidosis

Hereditary ATTR amyloidosis (ATTRv, hATTR) is a rare autosomal dominant TTR gene disease causing misfolded transthyretin amyloid deposits in nerves and heart, treated with stabilizers and gene-silencing drugs.

Hereditary benign intraepithelial dyskeratosis

Hereditary benign intraepithelial dyskeratosis, or HBID, is a rare inherited disorder causing white plaques on the conjunctiva and mouth, first described in the Haliwa-Saponi tribe of North Carolina in 1960.

Hereditary breast and/or ovarian cancer syndrome

Hereditary breast and/or ovarian cancer syndrome (HBOC), ORPHA:145, is an autosomal dominant cancer-predisposition condition mainly from BRCA1/BRCA2 germline pathogenic variants, also involving PALB2, ATM, CHEK2, RAD51C/D, and BRIP1, raising breast, ovarian, prostate, and pancreatic cancer risk.

Hereditary butyrylcholinesterase deficiency

Hereditary butyrylcholinesterase deficiency (pseudocholinesterase deficiency), an autosomal recessive BCHE disorder on chromosome 3q26, causes prolonged apnea after succinylcholine or mivacurium; managed with ventilation, no specific treatment.

Hereditary cerebral amyloid angiopathy

Hereditary cerebral amyloid angiopathy (HCHWA), including Dutch-type APP and Icelandic-type CST3 (HCCAA) disease, is a rare autosomal dominant cerebral small vessel disease causing recurrent lobar hemorrhages, seizures, and progressive dementia in adults under 55.

Hereditary clear cell renal cell carcinoma

Hereditary clear cell renal cell carcinoma (ccRCC, familial ccRCC, OMIM 144700) is inherited kidney cancer with clear-cell histology, mainly via VHL, chromosome 3 translocation, BAP1, or PTEN syndromes; 5-8% of RCC, median onset age 37.

Hereditary combined deficiency of vitamin K-dependent clotting factors

Hereditary combined deficiency of vitamin K-dependent clotting factors (VKCFD), also called hereditary combined deficiency of factors II, VII, IX and X, is a rare autosomal recessive bleeding disorder from GGCX or VKORC1 mutations, treated with vitamin K and prothrombin complex concentrate.

Hereditary coproporphyria

Hereditary coproporphyria (HCP) is a rare autosomal dominant acute hepatic porphyria caused by CPOX enzyme deficiency, causing neurovisceral attacks, rare skin lesions, low penetrance, and treatment with hemin.

Hereditary cryohydrocytosis with reduced stomatin

Hereditary cryohydrocytosis with reduced stomatin (sdCHC, ORPHA:168577) is an ultra-rare autosomal dominant SLC2A1/GLUT1 disorder with cold-induced red cell cation leak, hemolytic anemia, pseudohyperkalemia, cataracts, seizures, and hepatosplenomegaly.

Hereditary diffuse gastric cancer

Hereditary diffuse gastric cancer (HDGC), an autosomal dominant syndrome mainly from germline CDH1 (E-cadherin) mutations, causing diffuse gastric and lobular breast cancer; managed by prophylactic gastrectomy, endoscopic surveillance, and breast screening.

Hereditary elliptocytosis

Hereditary elliptocytosis (hereditary ovalocytosis), an inherited red cell membrane disorder from SPTA1, SPTB, or EPB41 mutations causing elliptical red blood cells; mostly asymptomatic, malaria-associated, severe variant HPP.

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome

POIKTMP syndrome, hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis, is a rare autosomal dominant FAM111B disorder with infantile facial poikiloderma, sparse hair, hypohidrosis, contractures, muscle weakness, and adult pulmonary fibrosis.

Hereditary folate malabsorption

Hereditary folate malabsorption (congenital folate malabsorption, OMIM 229050) is a rare autosomal recessive disorder from SLC46A1/PCFT loss of function, causing megaloblastic anemia, immune deficiency, seizures, and very low CSF folate, treated with intramuscular folinic acid.

Hereditary fructose intolerance

Hereditary fructose intolerance is an autosomal recessive metabolic disorder caused by aldolase B deficiency, in which eating fructose, sucrose, or sorbitol causes vomiting, hypoglycemia, and liver damage.

Hereditary geniospasm

Hereditary geniospasm (geniospasm, hereditary chin trembling, OMIM 190100) is a rare autosomal dominant movement disorder of infancy and childhood causing involuntary mentalis-muscle myoclonus with chin and lower-lip trembling, often stress-triggered, sometimes with nocturnal tongue biting, best treated with botulinum toxin injections.

Hereditary gingival fibromatosis

Hereditary gingival fibromatosis (HGF), also called hereditary gingival hyperplasia, is a rare autosomal dominant benign fibrous overgrowth of the gums, linked to SOS1 and REST mutations, treated by gingivectomy with frequent recurrence.

Hereditary haemochromatosis

Hereditary haemochromatosis (HFE-related HH, type 1) is an autosomal recessive iron overload disorder caused mainly by homozygous HFE p.C282Y on chromosome 6p, common in northern Europeans (about 1 in 200), incompletely penetrant, diagnosed by transferrin saturation and ferritin, and treated by venesection.

Hereditary haemolytic anaemia

Hereditary haemolytic anaemia (HHA, ICD-11 3A10): inherited red cell disorders causing premature RBC destruction, spanning membranopathies, hemoglobinopathies, and enzymopathies; diagnosed by smear, EMA/ektacytometry, and NGS.

Hereditary hearing loss

Hereditary hearing loss (genetic deafness, ICD-11 AB56): hearing loss caused by inherited or new genetic variants, over 150 genes implicated, at least 40% of all hearing loss; diagnosed by gene panel testing, first gene therapy approved 2026 for OTOF-related deafness.

Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia, also called Osler–Weber–Rendu disease, is an autosomal dominant genetic disorder causing recurrent nosebleeds, anemia, and arteriovenous malformations in the lungs, brain, and liver.

Hereditary hyperekplexia

Hereditary hyperekplexia (familial startle disease) is a rare disorder of glycinergic inhibition affecting the brainstem, presenting as excessive startle responses and neonatal stiffness.

Hereditary hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract syndrome (HHCS), also called hereditary hyperferritinemia with cataracts, is a rare autosomal dominant FTL iron-responsive-element disorder causing early bilateral cataract and high ferritin without iron overload; venesection is harmful.