Pseudoxanthoma Elasticum [pseudoxanthoma elasticum]

topical
13
Terms

autozomálně dominantní pseudoxanthoma elasticum
syndrom Groenbladové-Strandbergův

 

Groenblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome
Pseudoxanthoma Elasticum, Autosomal Dominant
Pseudoxanthoma Elasticum, Forme Fruste
Pseudoxanthoma Elasticum, Incomplete

Persistent link   https://www.medvik.cz/link/D011561
Definition

An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.

Annotation
in titles & translations use diacritic: Grönblad
DUI
D011561 MeSH Browser
CUI
M0017968

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 1
CO
complications 1
DI
diagnosis 6
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology 1
GE
genetics 4
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 2
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 2
UR
urine
VE
veterinary
VI
virology

C Diseases
C14 Cardiovascular Diseases 10 552
C14.907 Vascular Diseases 1 793
C14.907.454 Hemostatic Disorders 49
C14.907.454.140 Cryoglobulinemia 72
C14.907.454.240 Ehlers-Danlos Syndrome 51
C14.907.454.385 Hemangioma, Cavernous 53
C14.907.454.460 Multiple Myeloma 1 790
C14.907.454.530 Pseudoxanthoma Elasticum 13
C14.907.454.550 Purpura, Hyperglobulinemic 4
C14.907.454.800 Scurvy 28
C14.907.454.810 Shwartzman Phenomenon 10
C14.907.454.900 Telangiectasia, Hereditary Hemorrhagic 34
C14.907.454.960 Waldenstrom Macroglobulinemia 112
C15 Hemic and Lymphatic Diseases 91
C15.378 Hematologic Diseases 976
C15.378.463 Hemorrhagic Disorders 95
C15.378.463.515 Hemostatic Disorders 49
C15.378.463.515.140 Cryoglobulinemia 72
C15.378.463.515.240 Ehlers-Danlos Syndrome 51
C15.378.463.515.385 Hemangioma, Cavernous 53
C15.378.463.515.460 Multiple Myeloma 1 790
C15.378.463.515.530 Pseudoxanthoma Elasticum 13
C15.378.463.515.550 Purpura, Hyperglobulinemic 4
C15.378.463.515.580 IgA Vasculitis 76
C15.378.463.515.800 Scurvy 28
C15.378.463.515.810 Shwartzman Phenomenon 10
C15.378.463.515.900 Telangiectasia, Hereditary Hemorrhagic 34
C15.378.463.515.960 Waldenstrom Macroglobulinemia 112
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 753
C16.131.831 Skin Abnormalities 51
C16.131.831.066 Acrodermatitis 67
C16.131.831.108 Carney Complex 8
C16.131.831.150 Dyskeratosis Congenita 9
C16.131.831.350 Ectodermal Dysplasia 33
C16.131.831.428 Ehlers-Danlos Syndrome 51
C16.131.831.493 Epidermolysis Bullosa 108
C16.131.831.512 Ichthyosis 62
C16.131.831.580 Incontinentia Pigmenti 19
C16.131.831.675 Port-Wine Stain 5
C16.131.831.720 Prolidase Deficiency
C16.131.831.766 Pseudoxanthoma Elasticum 13
C16.131.831.775 Rothmund-Thomson Syndrome 8
C16.131.831.812 Sclerema Neonatorum 2
C16.131.831.874 Trichothiodystrophy Syndromes 1
C16.131.831.936 Xeroderma Pigmentosum 25
C16.320 Genetic Diseases, Inborn 1 215
C16.320.850 Skin Diseases, Genetic 89
C16.320.850.080 Albinism 17
C16.320.850.180 Cutis Laxa 10
C16.320.850.190 Darier Disease 26
C16.320.850.210 Dermatitis, Atopic 1 454
C16.320.850.235 Dyskeratosis Congenita 9
C16.320.850.250 Ectodermal Dysplasia 33
C16.320.850.260 Ehlers-Danlos Syndrome 51
C16.320.850.275 Epidermolysis Bullosa 108
C16.320.850.337 Erythrokeratodermia Variabilis 1
C16.320.850.368 Hyaline Fibromatosis Syndrome 1
C16.320.850.400 Ichthyosiform Erythroderma, Congenital 8
C16.320.850.402 Ichthyosis Bullosa of Siemens 3
C16.320.850.405 Ichthyosis Vulgaris 5
C16.320.850.408 Ichthyosis, X-Linked 9
C16.320.850.420 Incontinentia Pigmenti 19
C16.320.850.475 Keratoderma, Palmoplantar 15
C16.320.850.542 Leukokeratosis, Hereditary Mucosal 1
C16.320.850.595 Lipoid Proteinosis of Urbach and Wiethe 5
C16.320.850.647 Monilethrix 1
C16.320.850.673 Netherton Syndrome 2
C16.320.850.700 Pemphigus, Benign Familial 11
C16.320.850.730 Porokeratosis 11
C16.320.850.738 Porphyria, Erythropoietic 11
C16.320.850.742 Porphyrias, Hepatic 27
C16.320.850.746 Prolidase Deficiency
C16.320.850.750 Pseudoxanthoma Elasticum 13
C16.320.850.765 Rothmund-Thomson Syndrome 8
C16.320.850.820 Sjogren-Larsson Syndrome 4
C16.320.850.895 Trichothiodystrophy Syndromes 1
C16.320.850.970 Xeroderma Pigmentosum 25
C17 Skin and Connective Tissue Diseases 32
C17.300 Connective Tissue Diseases 282
C17.300.116 Anetoderma 5
C17.300.182 Cartilage Diseases 141
C17.300.185 Cellulitis 134
C17.300.200 Collagen Diseases 183
C17.300.230 Cutis Laxa 10
C17.300.250 Dermatomyositis 240
C17.300.270 Dupuytren Contracture 61
C17.300.349 Fibromatosis, Plantar
C17.300.428 Homocystinuria 108
C17.300.451 Lipedema 20
C17.300.475 Lupus Erythematosus, Cutaneous 77
C17.300.480 Lupus Erythematosus, Systemic 1 097
C17.300.500 Marfan Syndrome 105
C17.300.540 Mixed Connective Tissue Disease 23
C17.300.550 Mucinoses 17
C17.300.680 Neoplasms, Connective Tissue 122
C17.300.690 Noonan Syndrome 52
C17.300.705 Osteopoikilosis 6
C17.300.710 Panniculitis 43
C17.300.715 Penile Induration 48
C17.300.766 Pseudoxanthoma Elasticum 13
C17.300.775 Rheumatic Diseases 2 184
C17.300.787 Scleroderma, Localized 62
C17.300.799 Scleroderma, Systemic 487
C17.300.849 Undifferentiated Connective Tissue Diseases 3
C17.300.899 Weill-Marchesani Syndrome 1
C17.800 Skin Diseases 2 801
C17.800.804 Skin Abnormalities 51
C17.800.804.066 Acrodermatitis 67
C17.800.804.108 Anetoderma 5
C17.800.804.150 Dyskeratosis Congenita 9
C17.800.804.350 Ectodermal Dysplasia 33
C17.800.804.428 Ehlers-Danlos Syndrome 51
C17.800.804.493 Epidermolysis Bullosa 108
C17.800.804.512 Ichthyosis 62
C17.800.804.580 Incontinentia Pigmenti 19
C17.800.804.675 Port-Wine Stain 5
C17.800.804.766 Pseudoxanthoma Elasticum 13
C17.800.804.775 Rothmund-Thomson Syndrome 8
C17.800.804.812 Sclerema Neonatorum 2
C17.800.804.874 Trichothiodystrophy Syndromes 1
C17.800.804.936 Xeroderma Pigmentosum 25
C17.800.827 Skin Diseases, Genetic 89
C17.800.827.080 Albinism 17
C17.800.827.180 Cutis Laxa 10
C17.800.827.190 Darier Disease 26
C17.800.827.210 Dermatitis, Atopic 1 454
C17.800.827.235 Dyskeratosis Congenita 9
C17.800.827.250 Ectodermal Dysplasia 33
C17.800.827.260 Ehlers-Danlos Syndrome 51
C17.800.827.275 Epidermolysis Bullosa 108
C17.800.827.337 Erythrokeratodermia Variabilis 1
C17.800.827.368 Hereditary Autoinflammatory Diseases 47
C17.800.827.384 Hyaline Fibromatosis Syndrome 1
C17.800.827.400 Ichthyosiform Erythroderma, Congenital 8
C17.800.827.403 Ichthyosis Bullosa of Siemens 3
C17.800.827.405 Ichthyosis Vulgaris 5
C17.800.827.408 Ichthyosis, X-Linked 9
C17.800.827.420 Incontinentia Pigmenti 19
C17.800.827.475 Keratoderma, Palmoplantar 15
C17.800.827.595 Leukokeratosis, Hereditary Mucosal 1
C17.800.827.602 Monilethrix 1
C17.800.827.610 Muir-Torre Syndrome 10
C17.800.827.655 Netherton Syndrome 2
C17.800.827.700 Pemphigus, Benign Familial 11
C17.800.827.730 Porokeratosis 11
C17.800.827.738 Porphyria, Erythropoietic 11
C17.800.827.742 Porphyrias, Hepatic 27
C17.800.827.750 Pseudoxanthoma Elasticum 13
C17.800.827.775 Rothmund-Thomson Syndrome 8
C17.800.827.820 Sjogren-Larsson Syndrome 4
C17.800.827.895 Trichothiodystrophy Syndromes 1
C17.800.827.970 Xeroderma Pigmentosum 25

Pseudoxanthoma Elasticum, Heterozygous Disease MeSH Browser

Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Disease MeSH Browser

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