Laminopathies [laminopatie]

topical
2
Terms

onemocnění asociovaná s genem LMNA

 

LMNA-Associated Diseases
LMNA-Linked Diseases

Persistent link   https://www.medvik.cz/link/D000083083
Definition

Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). It includes CARDIOMYOPATHY, DILATED, 1A; CHARCOT-MARIE-TOOTH DISEASE, type 2B1; EMERY-DREIFUSS MUSCULAR DYSTROPHY, types 2 and 3; HUTCHINSON-GILFORD PROGERIA SYNDROME; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Malouf syndrome; Mandibuloacral dysplasia; LMNA-related muscular dystrophy; Restrictive dermopathy, lethal; Heart-hand syndrome, Slovenian type.

DUI
D000083083 MeSH Browser
CUI
M000678538
Previous indexing
Cardiomyopathies (2002-2020); Lamin Type A/genetics (2002-2020); Neuromuscular Diseases (2002-2020)
History note
2021
Public note
2021

Allowable subheadings

BL
blood 0
CF
cerebrospinal fluid 0
CI
chemically induced 0
CL
classification 0
CO
complications 0
DI
diagnosis 1
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 2
HI
history 0
IM
immunology 0
ME
metabolism 0
MI
microbiology 0
MO
mortality 0
NU
nursing 0
PS
parasitology 0
PA
pathology 1
PP
physiopathology 1
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

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
C16.320.467 Kallmann Syndrome 10
C16.320.480 Kartagener Syndrome 46
C16.320.488 Laminopathies 2
C16.320.488.500 Autosomal Emery-Dreifuss Muscular Dystrophy
C16.320.488.750 Cardiomyopathy, Dilated 340
C16.320.488.813 Lipodystrophy, Familial Partial 1
C16.320.488.875 Progeria 27
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

Add

Narrower terms