Imprinting Disorders [poruchy imprintingu]

topical

Terms: Genetic Imprinting Disorders
Genomic Imprinting Disorders
Imprinting Diseases
Imprinting Syndromes

Persistent link https://www.medvik.cz/link/D000096803

Definition

Disorders caused by transcriptional silencing of one parental gene allele (imprinted gene). Imprinted genes show genetic expression from only one parent of the gene pair through epigenetic processes with no change in the DNA sequence.

DUI: D000096803 MeSH Browser
CUI: M000762635
Previous indexing: Genomic Imprinting (2021-2023)
History note: 2024
Public note: 2024

Allowable subheadings

BL: blood 0
CF: cerebrospinal fluid 0
CI: chemically induced 0
CL: classification 0
CO: complications 0
DI: diagnosis 0
DG: diagnostic imaging 0
DH: diet therapy 0
DT: drug therapy 0
EC: economics 0
EM: embryology 0
EN: enzymology 0
EP: epidemiology 0
EH: ethnology 0
ET: etiology 0
GE: genetics 0
HI: history 0
IM: immunology 0
ME: metabolism 0
MI: microbiology 0
MO: mortality 0
NU: nursing 0
PS: parasitology 0
PA: pathology 0
PP: physiopathology 0
PC: prevention & control 0
PX: psychology 0
RT: radiotherapy 0
RH: rehabilitation 0
SU: surgery 0
TH: therapy 0
UR: urine 0
VE: veterinary 0
VI: virology 0

... Occurrences in Medvik records

C Diseases

C01 Infections 2 026

C04 Neoplasms 12 762

C05 Musculoskeletal Diseases 1 119

C06 Digestive System Diseases 671

C07 Stomatognathic Diseases 117

C08 Respiratory Tract Diseases 2 215

C09 Otorhinolaryngologic Diseases 677

C10 Nervous System Diseases 1 877

C11 Eye Diseases 1 485

C12 Urogenital Diseases 6

C14 Cardiovascular Diseases 10 491

C15 Hemic and Lymphatic Diseases 91

C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439

C16.320 Genetic Diseases, Inborn 1 213

C16.320.033 Adrenal Hyperplasia, Congenital 225

C16.320.051 Alagille Syndrome 19

C16.320.060 alpha 1-Antitrypsin Deficiency 83

C16.320.070 Anemia, Hemolytic, Congenital 48

C16.320.077 Anemia, Hypoplastic, Congenital 3

C16.320.080 Ataxia Telangiectasia 47

C16.320.089 Autoimmune Lymphoproliferative Syndrome 2

C16.320.099 Blood Coagulation Disorders, Inherited 61

C16.320.100 Brugada Syndrome 40

C16.320.129 CADASIL 8

C16.320.144 Camurati-Engelmann Syndrome 6

C16.320.160 Cardiomyopathy, Hypertrophic, Familial 32

C16.320.165 CHARGE Syndrome 1

C16.320.170 Cherubism 1

C16.320.180 Chromosome Disorders 259

C16.320.184 Ciliopathies 9

C16.320.188 Costello Syndrome 3

C16.320.190 Cystic Fibrosis 1 328

C16.320.215 Donohue Syndrome 1

C16.320.240 Dwarfism 97

C16.320.290 Eye Diseases, Hereditary 57

C16.320.298 Familial Multiple Lipomatosis

C16.320.306 Frasier Syndrome

C16.320.314 GATA2 Deficiency 1

C16.320.322 Genetic Diseases, X-Linked 59

C16.320.338 Genetic Diseases, Y-Linked 1

C16.320.355 Hajdu-Cheney Syndrome 6

C16.320.365 Hemoglobinopathies 68

C16.320.382 Hereditary Autoinflammatory Diseases 46

C16.320.400 Heredodegenerative Disorders, Nervous System 45

C16.320.413 Hyper-IgM Immunodeficiency Syndrome 4

C16.320.427 Hyperthyroxinemia, Familial Dysalbuminemic 1

C16.320.447 Imprinting Disorders

C16.320.447.250 Angelman Syndrome 35

C16.320.447.375 Beckwith-Wiedemann Syndrome 17

C16.320.447.500 Prader-Willi Syndrome 91

C16.320.447.750 Silver-Russell Syndrome 3

C16.320.467 Kallmann Syndrome 10

C16.320.480 Kartagener Syndrome 46

C16.320.488 Laminopathies 2

C16.320.495 Lennox Gastaut Syndrome 5

C16.320.510 Loeys-Dietz Syndrome 7

C16.320.540 Marfan Syndrome 105

C16.320.565 Metabolism, Inborn Errors 711

C16.320.577 Muscular Dystrophies 140

C16.320.590 Myasthenic Syndromes, Congenital 20

C16.320.600 Nail-Patella Syndrome 8

C16.320.700 Neoplastic Syndromes, Hereditary 143

C16.320.709 Oculocerebrorenal Syndrome 9

C16.320.714 Orofaciodigital Syndromes 7

C16.320.718 Osteoarthropathy, Primary Hypertrophic 127

C16.320.728 Osteochondrodysplasias 123

C16.320.737 Osteogenesis Imperfecta 106

C16.320.775 Pain Insensitivity, Congenital 10

C16.320.784 Pelger-Huet Anomaly 7

C16.320.798 Primary Immunodeficiency Diseases 45

C16.320.812 Pycnodysostosis 2

C16.320.831 Renal Tubular Transport, Inborn Errors 36

C16.320.850 Skin Diseases, Genetic 89

C16.320.925 Werner Syndrome 14

C16.320.962 Yellow Nail Syndrome

C17 Skin and Connective Tissue Diseases 32

C18 Nutritional and Metabolic Diseases 172

C19 Endocrine System Diseases 883

C20 Immune System Diseases 745

C21 Disorders of Environmental Origin 22

C22 Animal Diseases 442

C23 Pathological Conditions, Signs and Symptoms 451

C24 Occupational Diseases 3 874

C25 Chemically-Induced Disorders 30

C26 Wounds and Injuries 1 915

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Broader terms

Imprinting Disorders [poruchy imprintingu]

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