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
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis 1
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics 2
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 1
PP
physiopathology 1
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C01 Infections 2 027
C04 Neoplasms 12 832
C05 Musculoskeletal Diseases 1 125
C06 Digestive System Diseases 674
C07 Stomatognathic Diseases 117
C08 Respiratory Tract Diseases 2 223
C09 Otorhinolaryngologic Diseases 678
C10 Nervous System Diseases 1 884
C11 Eye Diseases 1 495
C12 Urogenital Diseases 8
C14 Cardiovascular Diseases 10 552
C15 Hemic and Lymphatic Diseases 91
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.033 Adrenal Hyperplasia, Congenital 226
C16.320.051 Alagille Syndrome 19
C16.320.060 alpha 1-Antitrypsin Deficiency 86
C16.320.070 Anemia, Hemolytic, Congenital 48
C16.320.077 Anemia, Hypoplastic, Congenital 3
C16.320.080 Ataxia Telangiectasia 48
C16.320.089 Autoimmune Lymphoproliferative Syndrome 2
C16.320.099 Blood Coagulation Disorders, Inherited 64
C16.320.100 Brugada Syndrome 40
C16.320.129 CADASIL 8
C16.320.144 Camurati-Engelmann Syndrome 6
C16.320.160 Cardiomyopathy, Hypertrophic, Familial 33
C16.320.165 CHARGE Syndrome 1
C16.320.170 Cherubism 1
C16.320.180 Chromosome Disorders 260
C16.320.184 Ciliopathies 9
C16.320.188 Costello Syndrome 3
C16.320.190 Cystic Fibrosis 1 330
C16.320.215 Donohue Syndrome 1
C16.320.240 Dwarfism 99
C16.320.290 Eye Diseases, Hereditary 58
C16.320.298 Familial Multiple Lipomatosis
C16.320.306 Frasier Syndrome
C16.320.314 GATA2 Deficiency 2
C16.320.322 Genetic Diseases, X-Linked 60
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 47
C16.320.400 Heredodegenerative Disorders, Nervous System 46
C16.320.413 Hyper-IgM Immunodeficiency Syndrome 4
C16.320.427 Hyperthyroxinemia, Familial Dysalbuminemic 2
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 341
C16.320.488.813 Lipodystrophy, Familial Partial 1
C16.320.488.875 Progeria 27
C16.320.495 Lennox Gastaut Syndrome 6
C16.320.510 Loeys-Dietz Syndrome 7
C16.320.540 Marfan Syndrome 105
C16.320.565 Metabolism, Inborn Errors 714
C16.320.577 Muscular Dystrophies 141
C16.320.590 Myasthenic Syndromes, Congenital 21
C16.320.600 Nail-Patella Syndrome 8
C16.320.700 Neoplastic Syndromes, Hereditary 144
C16.320.709 Oculocerebrorenal Syndrome 9
C16.320.714 Orofaciodigital Syndromes 7
C16.320.718 Osteoarthropathy, Primary Hypertrophic 127
C16.320.728 Osteochondrodysplasias 125
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 48
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 887
C20 Immune System Diseases 748
C21 Disorders of Environmental Origin 22
C22 Animal Diseases 442
C23 Pathological Conditions, Signs and Symptoms 451
C24 Occupational Diseases 3 884
C25 Chemically-Induced Disorders 30
C26 Wounds and Injuries 1 931

Charcot-Marie-Tooth disease, Type 2B Disease MeSH Browser

Charcot-Marie-Tooth disease, Type 2B1 Disease MeSH Browser

Heart-hand syndrome, Slovenian type Disease MeSH Browser

Malouf syndrome Disease MeSH Browser

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