CHARGE Syndrome [CHARGE syndrom]

topical
1
Terms

familiární CHARGE syndrom
Hallův-Hittnerův syndrom
kolobom, srdeční defekty, choanální atrézie, opoždění vývoje, postižení uší a genitálu

 

CHARGE Association
CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
Familial CHARGE Syndrome
Hall-Hittner Syndrome

Persistent link   https://www.medvik.cz/link/D058747
Definition

Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.

DUI
D058747 MeSH Browser
CUI
M0530381
History note
2011
Public note
2011

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
EH
ethnology
ET
etiology
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
C09 Otorhinolaryngologic Diseases 678
C09.218 Ear Diseases 316
C09.218.458 Hearing Disorders 1 299
C09.218.458.341 Hearing Loss 217
C09.218.458.341.186 Deafness 435
C09.218.458.341.186.500 Deaf-Blind Disorders 65
C09.218.458.341.186.500.250 CHARGE Syndrome 1
C09.218.458.341.186.500.500 Usher Syndromes 8
C09.218.458.341.186.500.750 Wolfram Syndrome 8
C10 Nervous System Diseases 1 884
C10.597 Neurologic Manifestations 1 055
C10.597.751 Sensation Disorders 94
C10.597.751.418 Hearing Disorders 1 299
C10.597.751.418.341 Hearing Loss 217
C10.597.751.418.341.186 Deafness 435
C10.597.751.418.341.186.500 Deaf-Blind Disorders 65
C10.597.751.418.341.186.500.250 CHARGE Syndrome 1
C10.597.751.418.341.186.500.500 Usher Syndromes 8
C10.597.751.418.341.186.500.750 Wolfram Syndrome 8
C10.597.751.941 Vision Disorders 710
C10.597.751.941.162 Blindness 425
C10.597.751.941.162.625 Deaf-Blind Disorders 65
C10.597.751.941.162.625.250 CHARGE Syndrome 1
C10.597.751.941.162.625.500 Usher Syndromes 8
C10.597.751.941.162.625.750 Wolfram Syndrome 8
C11 Eye Diseases 1 495
C11.270 Eye Diseases, Hereditary 58
C11.270.147 Coloboma 14
C11.270.147.500 CHARGE Syndrome 1
C11.270.147.750 Mandibulofacial Dysostosis 22
C11.966 Vision Disorders 710
C11.966.075 Blindness 425
C11.966.075.375 Deaf-Blind Disorders 65
C11.966.075.375.250 CHARGE Syndrome 1
C11.966.075.375.500 Usher Syndromes 8
C11.966.075.375.750 Wolfram Syndrome 8
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 753
C16.131.077 Abnormalities, Multiple 330
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.299.250 CHARGE Syndrome 1
C16.131.077.299.500 Usher Syndromes 8
C16.131.077.299.750 Wolfram Syndrome 8
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
C23 Pathological Conditions, Signs and Symptoms 451
C23.888 Signs and Symptoms 3 919
C23.888.592 Neurologic Manifestations 1 055
C23.888.592.763 Sensation Disorders 94
C23.888.592.763.393 Hearing Disorders 1 299
C23.888.592.763.393.341 Hearing Loss 217
C23.888.592.763.393.341.186 Deafness 435
C23.888.592.763.393.341.186.500 Deaf-Blind Disorders 65
C23.888.592.763.393.341.186.500.500 CHARGE Syndrome 1
C23.888.592.763.941 Vision Disorders 710
C23.888.592.763.941.162 Blindness 425
C23.888.592.763.941.162.625 Deaf-Blind Disorders 65
C23.888.592.763.941.162.625.500 CHARGE Syndrome 1

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