Centro Médico Especializado en Reproducción Asistida en CDMX

Lista de Enfermedades Monogénicas

Nombres de Enfermedades Monogénicas en inglés:

• Adenosine Aminohydrolase Deficiency (ADA)
• 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)
• Citrullinemia
• 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)
• Galactosemia
• Gaucher Disease, Type 1
• Glycogen Storage Disease, Type VI
• Hemophilia A
• Hemophilia B
• HLA Matching Genotyping
• Holoprosencephaly
• 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
• Phenylketonuria
• 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
• Retinoblastoma
• 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
• Symphalangism
• 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