Camurati-Engelmann Syndrome [Camuratiho-Engelmannův syndrom]

topical
6
Terms

Camurati-Engelmann syndrom
Camuratiho-Engelmannova choroba
Camuratiho-Engelmannova nemoc
diafyzární dysplazie
diafyzární progresivní dysplazie
progresivní diafyzární dysplazie

 

Camurati-Engelmann Disease
Diaphyseal Dysplasia 1, Progressive
Diaphyseal Dysplasia, Progressive
Diaphyseal Hyperostosis
Engelmann Disease
Engelmann's Disease
Progressive Diaphyseal Dysplasia

Persistent link   https://www.medvik.cz/link/D003966
Definition

An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.

DUI
D003966 MeSH Browser
CUI
M0006211
History note
2007(1975)
Public note
2007; see OSTEOCHONDRODYSPLASIAS 1985-1990, see BONE DISEASES, DEVELOPMENTAL 1975-1984

Allowable subheadings

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

C Diseases
C05 Musculoskeletal Diseases 1 125
C05.116 Bone Diseases 796
C05.116.099 Bone Diseases, Developmental 293
C05.116.099.708 Osteochondrodysplasias 125
C05.116.099.708.017 Achondroplasia 71
C05.116.099.708.025 Acquired Hyperostosis Syndrome 21
C05.116.099.708.180 Camurati-Engelmann Syndrome 6
C05.116.099.708.195 Chondrodysplasia Punctata 6
C05.116.099.708.207 Cleidocranial Dysplasia 7
C05.116.099.708.327 Ellis-Van Creveld Syndrome 11
C05.116.099.708.338 Enchondromatosis 13
C05.116.099.708.375 Fibrous Dysplasia of Bone 47
C05.116.099.708.479 Hyperostosis, Cortical, Congenital 14
C05.116.099.708.486 Hyperostosis Frontalis Interna 3
C05.116.099.708.534 Kashin-Beck Disease
C05.116.099.708.582 Langer-Giedion Syndrome 7
C05.116.099.708.670 Osteochondroma 16
C05.116.099.708.685 Osteogenesis Imperfecta 106
C05.116.099.708.702 Osteosclerosis 38
C05.116.099.708.779 Pycnodysostosis 2
C05.116.099.708.857 Short Rib-Polydactyly Syndrome 3
C05.116.099.708.928 Slipped Capital Femoral Epiphyses 16
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
C16.320.495 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

Camurati Engelmann disease, type 2 Disease MeSH Browser

Camurati-Engelmann Disease, Type II Disease MeSH Browser

Ribbing disease Disease MeSH Browser

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