Health Conditions - Genetics Home Reference: L-12 [RARE DISEASES LIBRARY]

Health Conditions - Genetics Home Reference

Health Conditions

Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.

• L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency, see 3-hydroxyacyl-CoA dehydrogenase deficiency
• l-arginine:glycine amidinotransferase deficiency, see arginine:glycine amidinotransferase deficiency
• l-arginine:glycine aminidotransferase deficiency, see arginine:glycine amidinotransferase deficiency
• L-xylulose reductase deficiency, see essential pentosuria
• L-xylulosuria, see essential pentosuria
• L1 syndrome
• labile factor deficiency, see factor V deficiency
• lacrimo-auriculo-dento-digital syndrome
• lacrimoauriculodentodigital syndrome, see lacrimo-auriculo-dento-digital syndrome
• lactate dehydrogenase deficiency
• lactate dehydrogenase subunit deficiencies, see lactate dehydrogenase deficiency
• lactic acidosis due to LAD deficiency, see dihydrolipoamide dehydrogenase deficiency
• lactic acidosis due to lipoamide dehydrogenase deficiency, see dihydrolipoamide dehydrogenase deficiency
• lactose intolerance
• lactose malabsorption, see lactose intolerance
• LAD1, see leukocyte adhesion deficiency type 1
• LADD syndrome, see lacrimo-auriculo-dento-digital syndrome
• Lafora body disease, see Lafora progressive myoclonus epilepsy
• Lafora disease, see Lafora progressive myoclonus epilepsy
• Lafora progressive myoclonic epilepsy, see Lafora progressive myoclonus epilepsy
• Lafora progressive myoclonus epilepsy
• Lafora type progressive myoclonic epilepsy, see Lafora progressive myoclonus epilepsy
• LAH, see autosomal recessive hypotrichosis
• Laing distal myopathy
• Laing early-onset distal myopathy, see Laing distal myopathy
• LAL deficiency, see Wolman disease
• LAL deficiency, see cholesteryl ester storage disease
• LAM, see lymphangioleiomyomatosis
• LAMA2 MD, see LAMA2-related muscular dystrophy
• LAMA2-related muscular dystrophy
• LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome, see Carney complex
• lamellar ichthyosis
• laminin alpha 2 deficiency, see LAMA2-related muscular dystrophy
• laminin alpha-2 deficient muscular dystrophy, see LAMA2-related muscular dystrophy
• LAMM syndrome, see congenital deafness with labyrinthine aplasia, microtia, and microdontia
• Landry-Guillain-Barre syndrome, see Guillain-Barré syndrome
• Langer mesomelic dwarfism, see Langer mesomelic dysplasia
• Langer mesomelic dysplasia
• Langer-Giedion syndrome
• Langerhans cell granulomatosis, see Langerhans cell histiocytosis
• Langerhans cell histiocytosis
• LAPS syndrome, see Myhre syndrome
• large-headed multiflagellar polyploid spermatozoa, see macrozoospermia
• Laron dwarfism, see Laron syndrome
• Laron syndrome
• Laron-type dwarfism, see Laron syndrome
• Laron-type isolated somatotropin defect, see Laron syndrome
• Laron-type pituitary dwarfism, see Laron syndrome
• Laron-type short stature, see Laron syndrome
• Larsen syndrome
• laryngo-onycho-cutaneous syndrome
• laryngoonychocutaneous syndrome, see laryngo-onycho-cutaneous syndrome
• laryngotracheal stenosis, arthropathy, prognathism, and short stature, see Myhre syndrome
• late onset idiopathic scoliosis, see adolescent idiopathic scoliosis
• late-infantile Batten disease, see late-infantile neuronal ceroid lipofuscinosis
• late-infantile neuronal ceroid lipofuscinosis
• late-onset biotin-responsive multiple carboxylase deficiency, see biotinidase deficiency
• late-onset lymphedema, see Meige disease
• late-onset multiple carboxylase deficiency, see biotinidase deficiency
• Late-onset spondyloepiphyseal dysplasia, see X-linked spondyloepiphyseal dysplasia tarda
• lateral facial dysplasia, see craniofacial microsomia
• lateral meningocele syndrome
• lattice corneal dystrophy type I
• lattice corneal dystrophy type II
• lattice corneal dystrophy, gelsolin type, see lattice corneal dystrophy type II
• LBATC, see RNAse T2-deficient leukoencephalopathy
• LBSL, see leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
• LCA, see Leber congenital amaurosis
• LCAT deficiency, see complete LCAT deficiency
• LCATA deficiency, see fish-eye disease
• LCH, see lissencephaly with cerebellar hypoplasia
• LCH, see Langerhans cell histiocytosis
• LCH, see Leydig cell hypoplasia
• LCHAD deficiency, see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• LCPD, see Legg-Calvé-Perthes disease
• LDH deficiency, see lactate dehydrogenase deficiency
• LDS, see Loeys-Dietz syndrome
• Le Merrer syndrome, see 3-M syndrome
• LE syndrome, see systemic lupus erythematosus
• Leber abiotrophy, see Leber congenital amaurosis
• Leber congenital amaurosis
• Leber congenital tapetoretinal degeneration, see Leber congenital amaurosis
• Leber hereditary optic atrophy, see Leber hereditary optic neuropathy
• Leber hereditary optic neuropathy
• Leber optic atrophy, see Leber hereditary optic neuropathy
• Leber's amaurosis, see Leber congenital amaurosis
• Leber's hereditary optic neuropathy, see Leber hereditary optic neuropathy
• Leber's optic atrophy, see Leber hereditary optic neuropathy
• Leber's optic neuropathy, see Leber hereditary optic neuropathy
• lecithin acyltransferase deficiency, see complete LCAT deficiency
• lecithin:cholesterol acyltransferase deficiency, see complete LCAT deficiency
• left isomerism, see heterotaxy syndrome
• Legg-Calvé-Perthes disease
• Legius syndrome
• Lehman syndrome, see lateral meningocele syndrome
• Leigh disease, see Leigh syndrome
• Leigh syndrome
• Leigh's disease, see Leigh syndrome
• leiomyomatosis and renal cell cancer, see hereditary leiomyomatosis and renal cell cancer
• Leisti-Hollander-Rimoin syndrome, see Floating-Harbor syndrome
• Lenegre Lev disease, see progressive familial heart block
• Lennox-Gastaut syndrome
• lens subluxation, see isolated ectopia lentis
• lentiginosis profusa, see Noonan syndrome with multiple lentigines
• lentiginosis, perioral, see Peutz-Jeghers syndrome
• Lenz dysmorphogenic syndrome, see Lenz microphthalmia syndrome
• Lenz dysplasia, see Lenz microphthalmia syndrome
• Lenz microphthalmia syndrome
• Lenz syndrome, see Lenz microphthalmia syndrome
• LEOPARD syndrome, see Noonan syndrome with multiple lentigines
• LEPD, see congenital leptin deficiency
• leprechaunism, see Donohue syndrome
• leprechaunism syndrome, see Donohue syndrome
• leptin deficiency, see congenital leptin deficiency
• leptin receptor deficiency
• leptin receptor-related monogenic obesity, see leptin receptor deficiency
• Leri-Weill dyschondrosteosis, see Léri-Weill dyschondrosteosis
• Lesch-Nyhan disease, see Lesch-Nyhan syndrome
• Lesch-Nyhan syndrome
• leucocyte adhesion deficiency type 1, see leukocyte adhesion deficiency type 1
• leukemia, acute promyelocytic, see acute promyelocytic leukemia
• leukocyte adhesion deficiency type 1
• leukocyte adhesion molecule deficiency type 1, see leukocyte adhesion deficiency type 1
• leukodystrophy with oligodontia, see Pol III-related leukodystrophy
• leukodystrophy with Rosenthal fibers, see Alexander disease
• leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, see Pol III-related leukodystrophy
• leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, see Pol III-related leukodystrophy
• leukoencephalopathy with bilateral anterior temporal lobe cysts, see RNAse T2-deficient leukoencephalopathy
• leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
• leukoencephalopathy with swelling and a discrepantly mild course, see megalencephalic leukoencephalopathy with subcortical cysts
• leukoencephalopathy with swelling and cysts, see megalencephalic leukoencephalopathy with subcortical cysts
• leukoencephalopathy with thalamus and brainstem involvement and high lactate
• leukoencephalopathy with vanishing white matter
• leukoencephalopathy-ataxia-hypodontia-hypomyelination, see Pol III-related leukodystrophy
• leukokeratosis of oral mucosa, see white sponge nevus
• leukokeratosis, hereditary mucosal, see white sponge nevus
• Lev syndrome, see progressive familial heart block
• Lev's disease, see progressive familial heart block
• Lev-Lenègre disease, see progressive familial heart block
• Levin syndrome 2, see gnathodiaphyseal dysplasia
• Levy-Hollister syndrome, see lacrimo-auriculo-dento-digital syndrome
• Leydig cell agenesis, see Leydig cell hypoplasia
• Leydig cell hypoplasia
• LFS, see Li-Fraumeni syndrome
• LFS, see Lujan syndrome
• LGMD, see limb-girdle muscular dystrophy
• LGS, see Lennox-Gastaut syndrome
• LH resistance due to LH receptor deactivation, see Leydig cell hypoplasia
• LHON, see Leber hereditary optic neuropathy
• LI, see lamellar ichthyosis
• Li-Fraumeni syndrome
• Libman-Sacks disease, see systemic lupus erythematosus
• Liddle syndrome
• Liebenberg syndrome
• limb-girdle muscular dystrophy
• limb-girdle syndrome, see limb-girdle muscular dystrophy
• limit dextrinosis, see glycogen storage disease type III
• LINCL, see late-infantile neuronal ceroid lipofuscinosis
• lip pseudocleft-hemagiomatous branchial cyst syndrome, see branchio-oculo-facial syndrome
• lip-pit syndrome, see van der Woude syndrome
• LIPA deficiency, see Wolman disease
• LIPA deficiency, see cholesteryl ester storage disease
• lipase D deficiency, see familial lipoprotein lipase deficiency
• LIPC deficiency, see hepatic lipase deficiency
• LIPD deficiency, see familial lipoprotein lipase deficiency
• lipid granulomatosis, see Erdheim-Chester disease
• lipid histiocytosis, see Niemann-Pick disease
• lipid proteinosis, see lipoid proteinosis
• lipid transport defect of intestine, see chylomicron retention disease
• lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency, see short-chain acyl-CoA dehydrogenase deficiency
• lipoamide dehydrogenase deficiency, see dihydrolipoamide dehydrogenase deficiency
• lipodystrophy, congenital generalized, see congenital generalized lipodystrophy
• lipodystrophy, familial partial, see familial partial lipodystrophy
• lipodystrophy, partial, with Rieger anomaly and short stature, see short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
• lipoglycoproteinosis, see lipoid proteinosis
• lipoid histiocytosis (kerasin type), see Gaucher disease
• lipoid proteinosis
• lipoid proteinosis of Urbach and Wiethe, see lipoid proteinosis
• lipoidosis cutis et mucosae, see lipoid proteinosis
• lipoidproteinosis, see lipoid proteinosis
• lipomatosis dolorosa, see adiposis dolorosa
• Lipoprotein Deficiency Disease, HDL, Familial, see Tangier disease
• lipoprotein lipase deficiency, familial, see familial lipoprotein lipase deficiency
• lipoproteinosis, see lipoid proteinosis
• Liposomal Acid Lipase Deficiency, Wolman Type, see Wolman disease
• LIS1, see isolated lissencephaly sequence
• LIS2, see lissencephaly with cerebellar hypoplasia
• LIS3, see lissencephaly with cerebellar hypoplasia
• lissencephaly 2, see lissencephaly with cerebellar hypoplasia
• lissencephaly 3, see lissencephaly with cerebellar hypoplasia
• lissencephaly syndrome, Norman-Roberts type, see lissencephaly with cerebellar hypoplasia
• lissencephaly type 1, see isolated lissencephaly sequence
• lissencephaly with cerebellar hypoplasia
• lissencephaly, classic, see isolated lissencephaly sequence
• LISX2, see X-linked lissencephaly with abnormal genitalia
• liver form of carnitine palmitoyltransferase deficiency, see carnitine palmitoyltransferase I deficiency
• liver phosphorylase deficiency syndrome, see glycogen storage disease type VI
• LMD, see Langer mesomelic dysplasia
• LMNB1-related adult-onset autosomal dominant leukodystrophy, see autosomal dominant leukodystrophy with autonomic disease
• LMPH2, see Meige disease
• LMS, see lateral meningocele syndrome
• LND, see Lesch-Nyhan syndrome
• LNS, see Lesch-Nyhan syndrome
• LO, see Pol III-related leukodystrophy
• LOC syndrome, see laryngo-onycho-cutaneous syndrome
• LOCS, see laryngo-onycho-cutaneous syndrome
• Loeys-Dietz aortic aneurysm syndrome, see Loeys-Dietz syndrome
• Loeys-Dietz syndrome
• LOGIC syndrome, see laryngo-onycho-cutaneous syndrome
• Loken-Senior syndrome, see Senior-Løken syndrome
• Long QT syndrome 7, see Andersen-Tawil syndrome
• Long QT syndrome with syndactyly, see Timothy syndrome
• long-chain 3-hydroxy acyl CoA dehydrogenase deficiency, see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• long-chain 3-OH acyl-CoA dehydrogenase deficiency, see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• Lou Gehrig disease, see amyotrophic lateral sclerosis
• Louis-Bar syndrome, see ataxia-telangiectasia
• low gamma-GT familial intrahepatic cholestasis, see benign recurrent intrahepatic cholestasis
• low serum HDL cholesterol, see familial HDL deficiency
• low γ-GT familial intrahepatic cholestasis, see progressive familial intrahepatic cholestasis
• Lowe oculocerebrorenal syndrome, see Lowe syndrome
• Lowe syndrome
• Lower motor neuron degeneration with Paget-like bone disease, see inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
• LPI, see lysinuric protein intolerance
• LPI - Lysinuric protein intolerance, see lysinuric protein intolerance
• LQT7, see Andersen-Tawil syndrome
• LQT8, see Timothy syndrome
• LRCC, see hereditary leiomyomatosis and renal cell cancer
• LRS, see Larsen syndrome
• LTBL, see leukoencephalopathy with thalamus and brainstem involvement and high lactate
• Lubag, see X-linked dystonia-parkinsonism
• Lubs X-linked mental retardation syndrome, see MECP2 duplication syndrome
• Lujan syndrome
• Lujan-Fryns syndrome, see Lujan syndrome
• Lundborg-Unverricht syndrome, see Unverricht-Lundborg disease
• lung cancer
• lung malignancies, see lung cancer
• lung malignant tumors, see lung cancer
• lung neoplasms, see lung cancer
• lupus, see systemic lupus erythematosus
• Luschka-Magendie foramina atresia, see Dandy-Walker malformation
• LVM, see megalencephalic leukoencephalopathy with subcortical cysts
• LWD, see Léri-Weill dyschondrosteosis
• Lyell's syndrome, see Stevens-Johnson syndrome/toxic epidermal necrolysis
• lymphangioleiomyomatosis
• lymphangiomyomatosis, see lymphangioleiomyomatosis
• lymphedema praecox, see Meige disease
• lymphedema with distichiasis, see lymphedema-distichiasis syndrome
• lymphedema-distichiasis syndrome
• lymphedema-lymphangiectasia-intellectual disability syndrome, see Hennekam syndrome
• lymphocytic thyroiditis, see Hashimoto thyroiditis
• Lynch syndrome
• lysine alpha-ketoglutarate reductase deficiency disease, see hyperlysinemia
• lysinuric protein intolerance
• Lysosomal acid lipase deficiency, see Wolman disease
• lysosomal acid lipase deficiency, see cholesteryl ester storage disease
• lysosomal alpha B mannosidosis, see alpha-mannosidosis
• lysosomal alpha-D-mannosidase deficiency, see alpha-mannosidosis
• lysosomal beta A mannosidosis, see beta-mannosidosis
• lysosomal beta-mannosidase deficiency, see beta-mannosidosis
• lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum, see Schindler disease
• lysosomal glycogen storage disease with normal acid maltase, see Danon disease
• lysosomal protective protein deficiency, see galactosialidosis