25,729 articles
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 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 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.
Hereditary hypophosphatemic rickets with hypercalciuria
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH, OMIM 241530) is a rare autosomal recessive SLC34A3/NPT2c disorder causing renal phosphate wasting, hypophosphatemia, elevated calcitriol, hypercalciuria, rickets, and kidney stones; treated with phosphate alone.
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 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 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 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 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.