Dyskeratosis Congenita [dyskeratosis congenita]

topical
9
Terms

syndrom Zinsserův-Engmanův-Coleho
syndrom Zinsserův-Engmanův-Coleův

 

Dyskeratosis Congenita, X-Linked
Zinsser-Cole-Engman Syndrome

Persistent link   https://www.medvik.cz/link/D019871
Definition

A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.

DUI
D019871 MeSH Browser
CUI
M0029508
History note
98
Public note
98

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications 1
DI
diagnosis 5
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology 1
EH
ethnology
ET
etiology 2
GE
genetics 5
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality 1
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology 1
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 7
UR
urine
VE
veterinary
VI
virology

C Diseases
C15 Hemic and Lymphatic Diseases 91
C15.378 Hematologic Diseases 976
C15.378.190 Bone Marrow Diseases 187
C15.378.190.223 Bone Marrow Failure Disorders 6
C15.378.190.223.500 Congenital Bone Marrow Failure Syndromes 2
C15.378.190.223.500.500 Anemia, Hypoplastic, Congenital 3
C15.378.190.223.500.750 Dyskeratosis Congenita 9
C15.378.190.223.500.875 Shwachman-Diamond Syndrome 2
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
C16.320.322 Genetic Diseases, X-Linked 60
C16.320.322.030 Aicardi Syndrome
C16.320.322.061 Androgen-Insensitivity Syndrome 56
C16.320.322.068 Barth Syndrome 6
C16.320.322.076 Bulbo-Spinal Atrophy, X-Linked 8
C16.320.322.092 Choroideremia 3
C16.320.322.100 Dent Disease 1
C16.320.322.108 Dyskeratosis Congenita 9
C16.320.322.116 Ectodermal Dysplasia 1, Anhidrotic 3
C16.320.322.124 Fabry Disease 189
C16.320.322.186 Focal Dermal Hypoplasia 6
C16.320.322.201 Glycogen Storage Disease Type IIb 11
C16.320.322.217 Glycogen Storage Disease Type VIII
C16.320.322.233 Granulomatous Disease, Chronic 54
C16.320.322.235 Hemophilia B 216
C16.320.322.237 Hyper-IgM Immunodeficiency Syndrome, Type 1 2
C16.320.322.241 Ichthyosis, X-Linked 9
C16.320.322.370 Isolated Noncompaction of the Ventricular Myocardium 11
C16.320.322.500 X-Linked Intellectual Disability 18
C16.320.322.562 Muscular Dystrophy, Duchenne 136
C16.320.322.625 Muscular Dystrophy, Emery-Dreifuss 18
C16.320.322.750 Oculocerebrorenal Syndrome 9
C16.320.322.828 Ornithine Carbamoyltransferase Deficiency Disease 20
C16.320.322.906 Pelizaeus-Merzbacher Disease 11
C16.320.322.937 Wiskott-Aldrich Syndrome 20
C16.320.322.968 X-Linked Combined Immunodeficiency Diseases 4
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
C17.800 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

Dyskeratosis Congenita, Autosomal Dominant Disease MeSH Browser

Dyskeratosis Congenita, Autosomal Recessive Disease MeSH Browser

Hoyeraal Hreidarsson syndrome Disease MeSH Browser

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