Genetic diseases-L
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- 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-CMD see LMNA-related congenital muscular dystrophy
- 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
- lagophthalmia with bilateral cleft lip and palate see Blepharocheilodontic syndrome
- LAH see Autosomal recessive hypotrichosis
- Laing distal myopathy
- Laing early-onset distal myopathy see Laing distal myopathy
- LAL deficiency see Lysosomal acid lipase deficiency
- 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 see Trichorhinophalangeal syndrome type II
- 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 onset spondyloepiphyseal dysplasia see X-linked spondyloepiphyseal dysplasia tarda
- late-infantile Batten disease see CLN2 disease
- late-infantile neuronal ceroid lipofuscinosis see CLN5 disease
- late-infantile neuronal ceroid lipofuscinosis see CLN2 disease
- late-onset biotin-responsive multiple carboxylase deficiency see Biotinidase deficiency
- late-onset lymphedema see Meige disease
- late-onset multiple carboxylase deficiency see Biotinidase deficiency
- 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
- Lauber's disease see Fundus albipunctatus
- LBATC see RNAse T2-deficient leukoencephalopathy
- LBD see Dementia with Lewy bodies
- 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 Leydig cell hypoplasia
- LCH see Langerhans cell histiocytosis
- LCH see Lissencephaly with cerebellar 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
- left ventricular hypertrabeculation see Left ventricular noncompaction
- left ventricular myocardial noncompaction cardiomyopathy see Left ventricular noncompaction
- left ventricular non-compaction see Left ventricular noncompaction
- Left ventricular noncompaction
- Legg-Calvé-Perthes disease
- Legius syndrome
- Lehman syndrome see Lateral meningocele syndrome
- Leigh disease see Leigh syndrome
- Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency see Pyruvate carboxylase deficiency
- Leigh syndrome
- Leigh syndrome due to pyruvate carboxylase deficiency see Pyruvate carboxylase deficiency
- 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
- Leprosy
- leptin deficiency see Congenital leptin deficiency
- Leptin receptor deficiency
- leptin receptor-related monogenic obesity see Leptin receptor deficiency
- Leri syndrome see Melorheostosis
- Leri's disease see Melorheostosis
- 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 ataxia see CLCN2-related leukoencephalopathy
- leukoencephalopathy with bilateral anterior temporal lobe cysts see RNAse T2-deficient leukoencephalopathy
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
- leukoencephalopathy with mild cerebellar ataxia and white matter edema see CLCN2-related leukoencephalopathy
- 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 with white matter edema see CLCN2-related leukoencephalopathy
- 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
- Lewy body dementia see Dementia with Lewy bodies
- Lewy body disease see Dementia with Lewy bodies
- Leydig cell agenesis see Leydig cell hypoplasia
- Leydig cell hypoplasia
- LFS see Lujan syndrome
- LFS see Li-Fraumeni syndrome
- LGMD see Limb-girdle muscular dystrophy
- LGS see Lennox-Gastaut syndrome
- LGS see Trichorhinophalangeal syndrome type II
- LH resistance due to LH receptor deactivation see Leydig cell hypoplasia
- LHON see Leber hereditary optic neuropathy
- LHRH deficiency and ataxia see Gordon Holmes syndrome
- 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 CLN2 disease
- lip pseudocleft-hemagiomatous branchial cyst syndrome see Branchio-oculo-facial syndrome
- lip-pit syndrome see Van der Woude syndrome
- LIPA deficiency see Lysosomal acid lipase deficiency
- 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
- 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
- LKPAT see CLCN2-related leukoencephalopathy
- LMD see Langer mesomelic dysplasia
- LMNA-related CMD see LMNA-related congenital muscular dystrophy
- LMNA-related congenital muscular dystrophy
- 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
- long-sighted see Farsightedness
- long-sightedness see Farsightedness
- 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 extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures see Spinal muscular atrophy with lower extremity predominance
- 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
- LVHT see Left ventricular noncompaction
- LVM see Megalencephalic leukoencephalopathy with subcortical cysts
- LWD see Léri-Weill dyschondrosteosis
- Lyell's syndrome see Stevens-Johnson syndrome/toxic epidermal necrolysis
- Lyme borreliosis see Lyme disease
- Lyme disease
- 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
- 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
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