Lista de Enfermedades Monogénicas

Nombres de Enfermedades Monogénicas en inglés:


Adenosine Aminohydrolase (ADA) Deficiency
Adrenoleukodystrophy (X-Linked ALD)
Alpha 1 Antitrypsin Deficiency
Alport Syndrome
Aneuploidies by STR Genotyping
Angioedema, Hereditary
Ataxia-Telangiectasia (AT)
Basal Cell Nevus Syndrome (Gorlin Syndrome)
Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES)
Blood Group – Kell Cellano System
Brain Tumor, Posterior Fossa of Infancy, Familial
Canavan Disease
Ceriod Lipofuscinosis, Neuronal 2, LAE Infantile, CLN2 (Batten Disease)
Charcot-Marie-Tooth Disease Type 1A (CMT1A)
Charcot-Marie-Tooth Disease Type 1B (CMT1B)
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Charcot-Marie-Tooth Disease, Type X-Linked, 1 (CMTX1)
Choroideremia (CHM)
Colon Cancer, Hereditary Nonpolyposis, Type1
Congenital Adrenal Hyperplasia (CAH)
Connexin 26(Neurosensory Deafness)
Crouzon Syndrome (Craniofacial Dysostosis)
Currarino Triad
Cystic Fibrosis (CF)
Cystinosin (CTNS)
Darier-White Disease (DAR)
Diamond-Blackfan Anemia (and HLA)
Dystonia Torsion (DYT1)
Early-Onset Familial Alzheimer Disease
Ectodermal Dysplasia 1, Anhidrotic (ED1)
Ectodermal Dysplasia, Hypohidrotic (EDAR)
Emery-Dreifuss Muscular Dystropy
Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive (EDMD3)
Epidermolysis Bullosa Dystrophica, Pasini
Epiphyseal Dysplasia, Multiple, 1 (EDM1)
Exostoses, Multiple, Type 1
Fabry Disease
Facioscapulohumeral Muscular Dystrophy
Familial Adenomatosis Polyposis
Familial Amyloid Polyneuropathy
Familial Dysautonomia (Riley-Day Syndrome, DYS)
Fanconi Anemia A (and HLA)
Fanconi Anemia C (and HLA)
Fanconi Anemia F (and HLA)
Fanconi Anemia J (and HLA)
Fragile-X A Syndromes (FMR1)
Gaucher Disease, Type 1
Glycogen Storage Disease, Type VI
Hemophilia A
Hemophilia B
HLA Matching Genotyping
Hoyeraal-Hreidarsson Syndrome (HHS)
Hunter Syndrome (Mucopolysaccharidosis II)
Huntington Chorea
Hurler Syndrome (Mucopolysaccharidosis IH)
Hydrocephalus, X-Linked (L1CAM)
Hypophosphatasia (Infantile)
Immunodeficiency with Hyper-IgM, Type 1
Incontinentia Pigmenti (IP)
Krabbe Disease
Leukoencephalopathy with Vanishing White Matter
Li-Fraumeni Syndrome (Mutations in p53 Gene)
Long-Chain Hydroxyacyl-CoA Dehydrogenase (LCHAD)
Marfan Syndrome
Medium-Chain Hydroxylacyl-CoA Dehydrogenase (MCAD)
5,10-@Methylenetetrahydrofolate Reductase (MTHFR)
Muscular Dystrophy, Duchenne Type (DMD)
Muscular Dystrophy, Becker Type (BMD)
Myotonic Dystrophy (DM1)
Myotubular Myopathy 1
Neurofibromatosis Type 1
Neurofibromatosis Type 2
Norrie Disease
Ocular Albinism, X-Linked
Oculocutaneous Albinism Type 1
Oculocutaneous Albinism Type 2
Omenn Syndrome
Optic Atrophy
Ornithine Carbamoyltransferase (OTC) Deficiency
Osteogenesis Imperfecta
Osteopetrosis, Malignant, Autosomal Recessive
Pelizaes-Merzbacher Disease
Polycystic Kidney Disease Autosomal Dominant Type 1
Polycystic Kidney Disease Autosomal Dominant Type 2
Polycystic Kidney Disease Autosomal Recessive ARPKD
Popliteal Pterygium Syndrome
Retinitis Pigmentosa
Rett Syndrome
Sandhoff Disease
Sickle Cell Anemia
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophy (SMA)
Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 3, Machado-Joseph Disease (MJD)
Spinocerebellar Ataxia Type 6
Spinocerebellar Ataxia Type 7
Stickler Syndrome
Succinic Semialdehyde Dehydrogenase Deficiency
Tay-Sachs Disease (TSD)
Thalassemia Alpha
Thalassemia Beta
Treacher Collins Syndrome
Tuberous Sclerosis Type 1
Tuberous Sclerosis Type 2
Von Hippel-Lindau Syndrome (VHL)
Wiscott Aldrich Syndrome
Zellweger Syndrome