Bloom Syndrome [Bloomův syndrom]

topical
11
Terms

Bloomův-Torreův-Machacekův syndrom
erythema congenitale teleangiectaticum

 

Bloom-Torre-Machacek Syndrome
Bloom's Syndrome
Congenital Telangiectatic Erythema

Persistent link   https://www.medvik.cz/link/D001816
Definition

An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.

DUI
D001816 MeSH Browser
CUI
M0002734
Previous indexing
Abnormalities, Multiple (1968-1981); Dwarfism (1966-1981); Facial Dermatoses (1966-1981); Telangiectasis (1966-1981)
History note
82
Public note
82

Allowable subheadings

BL
blood 0
CF
cerebrospinal fluid 0
CI
chemically induced 0
CL
classification 0
CO
complications 0
DI
diagnosis 6
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 2
GE
genetics 6
HI
history 1
IM
immunology 0
ME
metabolism 0
MI
microbiology 0
MO
mortality 0
NU
nursing 0
PS
parasitology 0
PA
pathology 3
PP
physiopathology 2
PC
prevention & control 2
PX
psychology 0
RT
radiotherapy 0
RH
rehabilitation 0
SU
surgery 0
TH
therapy 3
UR
urine 0
VE
veterinary 0
VI
virology 0

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 740
C16.131.077 Abnormalities, Multiple 330
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 32
C16.131.077.133 Beckwith-Wiedemann Syndrome 17
C16.131.077.137 Bloom Syndrome 11
C16.131.077.208 Branchio-Oto-Renal Syndrome 5
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 20
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 8
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.477 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.633 Nevus, Sebaceous of Jadassohn 7
C16.131.077.662 Oculocerebrorenal Syndrome 9
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.690 Pallister-Hall Syndrome
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 34
C16.131.077.717 Polycystic Kidney Diseases 82
C16.131.077.730 Prader-Willi Syndrome 91
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.790 Rubella Syndrome, Congenital 20
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.850 Short Rib-Polydactyly Syndrome 3
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.899 Trichothiodystrophy Syndromes 1
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.944 Wolf-Hirschhorn Syndrome
C16.131.077.970 Zellweger Syndrome 10
C16.320 Genetic Diseases, Inborn 1 213
C16.320.798 Primary Immunodeficiency Diseases 45
C16.320.798.250 Ataxia Telangiectasia 47
C16.320.798.313 Bloom Syndrome 11
C16.320.798.375 Chediak-Higashi Syndrome 4
C16.320.798.500 Hereditary Complement Deficiency Diseases 5
C16.320.798.625 Hyper-IgM Immunodeficiency Syndrome 4
C16.320.798.688 Job Syndrome 15
C16.320.798.719 Leukocyte-Adhesion Deficiency Syndrome 3
C16.320.798.750 Severe Combined Immunodeficiency 63
C16.320.798.875 Wiskott-Aldrich Syndrome 20
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.284 DNA Repair-Deficiency Disorders 10
C18.452.284.060 Ataxia Telangiectasia 47
C18.452.284.100 Bloom Syndrome 11
C18.452.284.250 Cockayne Syndrome 4
C18.452.284.255 Colorectal Neoplasms, Hereditary Nonpolyposis 114
C18.452.284.280 Fanconi Anemia 46
C18.452.284.520 Li-Fraumeni Syndrome 39
C18.452.284.600 Nijmegen Breakage Syndrome 21
C18.452.284.760 Rothmund-Thomson Syndrome 7
C18.452.284.800 Severe Combined Immunodeficiency 63
C18.452.284.960 Werner Syndrome 14
C18.452.284.975 Xeroderma Pigmentosum 25
C20 Immune System Diseases 745
C20.673 Immunologic Deficiency Syndromes 1 105
C20.673.795 Primary Immunodeficiency Diseases 45
C20.673.795.250 Ataxia Telangiectasia 47
C20.673.795.313 Bloom Syndrome 11
C20.673.795.375 Chediak-Higashi Syndrome 4
C20.673.795.500 Hereditary Complement Deficiency Diseases 5
C20.673.795.625 Hyper-IgM Immunodeficiency Syndrome 4
C20.673.795.688 Job Syndrome 15
C20.673.795.719 Leukocyte-Adhesion Deficiency Syndrome 3
C20.673.795.750 Severe Combined Immunodeficiency 63
C20.673.795.875 Wiskott-Aldrich Syndrome 20

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