All articles starting with H
20,046 articles
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome (IBM3) is a rare inherited disorder causing early muscle weakness, restricted eye movements, and joint contractures, caused by variants in the MYH2 gene.
Hereditary leiomyomatosis and renal cell cancer syndrome
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC, Reed syndrome) is an autosomal dominant FH-gene disorder causing cutaneous and uterine leiomyomata and aggressive FH-deficient renal cell carcinoma, with revised lifetime RCC risk near 7-21%.
Hereditary lymphedema
Hereditary (primary) lymphedema is a group of genetic disorders in which lymphatic vessels develop abnormally or function poorly, causing swelling, most often of the legs, from birth or later.
Hereditary military command system
The hereditary military command system (世襲領兵制) let sons and brothers inherit command of a dead general's troops in Eastern Wu, a practice traced to Sun Ce's inheritance of Sun Jian's army.
Hereditary mixed polyposis syndrome
Hereditary mixed polyposis syndrome (HMPS), also called CRAC1, a rare autosomal dominant colorectal polyposis and cancer predisposition syndrome of Ashkenazi Jews, caused by a 40 kb duplication upstream of GREM1 causing ectopic GREM1 expression.
Hereditary monarchy
Hereditary monarchy: a political system where head-of-state position passes within one family by fixed descent rules, usually primogeniture. Distinguished from elective monarchy and republics; studied for its role in European state stability and modern democracy.
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy type 5 (HMSN V), also called Charcot-Marie-Tooth disease with pyramidal features, is a rare autosomal dominant axonal neuropathy combining distal weakness, pes cavus, and pyramidal signs; some families carry MFN2 mutations.
Hereditary motor and sensory neuropathy type 6
Hereditary motor and sensory neuropathy type 6 (HMSN VI, CMT6) is a rare axonal neuropathy with optic atrophy, usually caused by MFN2 mutations on chromosome 1p36.2, with SLC25A46 and PDXK recessive forms, onset at 1-10 years.
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary motor and sensory neuropathy, Okinawa type (HMSN-P, 沖縄型神経原性筋萎縮症) is a rare autosomal dominant TFG-gene (c.854C>T, p.Pro285Leu) neuropathy with adult-onset proximal weakness, painful cramps, fasciculations, and distal sensory loss, mostly in Okinawan descendants.
Hereditary mucoepithelial dysplasia
Hereditary mucoepithelial dysplasia (Urban-Schosser-Spohn syndrome, ORPHA:1839, OMIM 158310) is a rare autosomal dominant SREBF1-related genodermatosis with non-scarring alopecia, red mucosal lesions, keratitis, cataracts, and lung disease.
Hereditary multiple exostoses
Hereditary multiple exostoses (hereditary multiple osteochondromas, MHE), an autosomal dominant disorder from EXT1 or EXT2 variants causing multiple cartilage-capped bone tumors, 1 in 50,000 prevalence, 2-10% sarcoma risk.
Hereditary myopathy with early respiratory failure
Hereditary myopathy with early respiratory failure (HMERF), also known as Edström myopathy or myofibrillar myopathy-titinopathy, is a rare inherited muscle disease causing adult-onset limb weakness and early respiratory failure.
Hereditary neuropathy with liability to pressure palsies
Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited disorder in which peripheral nerves are unusually sensitive to pressure, causing recurrent numbness and palsies.
Hereditary neutrophilia
Hereditary neutrophilia (ORPHA:279943, OMIM 162830) is a rare autosomal dominant immune disease caused by germline activating CSF3R mutations, causing lifelong neutrophilia, splenomegaly, and usually no symptoms.
Hereditary nonpolyposis colorectal cancer
Hereditary nonpolyposis colorectal cancer (HNPCC), also called Lynch syndrome, is an autosomal dominant inherited cancer syndrome caused by germline variants in MMR genes MLH1, MSH2, MSH6, PMS2, and EPCAM, raising colorectal, endometrial, and other cancer risks, often before age 50.
Hereditary painful callosities
Hereditary painful callosities (PPK nummularis, keratosis palmoplantaris nummularis, OMIM 114140) is a rare autosomal dominant focal palmoplantar keratoderma with painful coin-shaped lesions on foot pressure points, linked to KRT6C mutations.
Hereditary pancreatitis
Hereditary chronic pancreatitis is an autosomal dominant pancreatitis, usually from gain-of-function PRSS1 (cationic trypsinogen) mutations such as R122H, first described in 1952, causing childhood-onset recurrent pancreatitis, pancreatic insufficiency, and elevated pancreatic cancer risk.
Hereditary papillary renal cell carcinoma
Hereditary papillary renal cell carcinoma (HPRC, hereditary papillary renal carcinoma) is a rare autosomal dominant MET-gene kidney cancer syndrome causing bilateral, multifocal, slow-growing papillary RCC with near-100% penetrance, onset around age 41, and no extrarenal manifestations.
Hereditary peer
Hereditary peer: British noble title inherited down a family line that until 1999 carried a seat in the House of Lords; 92 excepted peers remained until the House of Lords (Hereditary Peers) Act 2026 removed them.
Hereditary persistence of alpha-fetoprotein
Hereditary persistence of alpha-fetoprotein (HPAFP, OMIM 615970, ORPHA:168615) is a rare benign autosomal dominant condition with lifelong elevated AFP from AFP-gene HNF1-site mutations, causing no illness but mimicking tumor-marker elevation.
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome, or Dias-Logan syndrome (OMIM 617101), a rare autosomal dominant BCL11A disorder with intellectual disability, developmental delay, microcephaly, and asymptomatic fetal hemoglobin persistence.
Hereditary pheochromocytoma-paraganglioma
Hereditary pheochromocytoma-paraganglioma (hereditary PGL/PCC syndrome, familial paraganglioma syndrome): autosomal dominant SDHx, VHL, RET, MAX, TMEM127-related predisposition to catecholamine-secreting tumors, with ~40% germline variant rate and SDHB metastatic risk.
Hereditary progressive cardiac conduction defect
Hereditary progressive cardiac conduction defect (ORPHA:871), also called PCCD, progressive familial heart block, or Lenègre–Lev disease, is an autosomal dominant cardiac conduction disorder, mainly from SCN5A and TRPM4 mutations, progressing to complete AV block and treated with pacemakers.
Hereditary progressive mucinous histiocytosis
Hereditary progressive mucinous histiocytosis (HPMH) is a rare, harmless non-Langerhans cell histiocytosis that begins in childhood or adolescence, producing slowly enlarging, symptomless skin-colored papules on the face and limbs.
Hereditary pulmonary alveolar proteinosis
Hereditary pulmonary alveolar proteinosis (hPAP, congenital PAP) is a rare genetic interstitial lung disease from CSF2RA or CSF2RB mutations disrupting GM-CSF receptor signaling, causing alveolar surfactant buildup; GM-CSF autoantibody negative, treated by whole lung lavage.
Hereditary renal hypouricemia
Hereditary renal hypouricemia, also called familial renal hypouricemia, is an inherited kidney disorder in which defective urate reabsorption causes abnormally low blood uric acid levels.
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation (HSAN9) is an ultra-rare autosomal recessive disorder causing developmental delay, intellectual disability, and a progressive sensory and autonomic neuropathy.
Hereditary sensory and autonomic neuropathy type 1
Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is a rare inherited disorder causing loss of sensation, skin ulcers, and pain, usually beginning in adulthood.
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 2 (HSAN2), also called congenital sensory neuropathy, is a rare inherited neuropathy causing loss of pain, temperature, and touch sensation from infancy.
Hereditary sensory and autonomic neuropathy type 5
Hereditary sensory and autonomic neuropathy type 5 (HSAN5) is a rare inherited neuropathy present from birth, causing loss of pain and temperature sensation while intellect stays normal.