Frasier Syndrome [syndrom Frasier]

topical
Persistent link   https://www.medvik.cz/link/D052159
Definition

A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.

Annotation
do not confuse with FRASER SYNDROME
DUI
D052159 MeSH Browser
CUI
M0391904
History note
2006; use DENYS-DRASH SYNDROME 2002-2005
Public note
2006; see DENYS-DRASH SYNDROME 2002-2005

Allowable subheadings

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

C Diseases
C12 Urogenital Diseases 6
C12.050 Female Urogenital Diseases and Pregnancy Complications 132
C12.050.351 Female Urogenital Diseases 153
C12.050.351.875 Urogenital Abnormalities 145
C12.050.351.875.253 Disorders of Sex Development 231
C12.050.351.875.253.096 Disorder of Sex Development, 46,XY 8
C12.050.351.875.253.096.500 Androgen-Insensitivity Syndrome 56
C12.050.351.875.253.096.562 Denys-Drash Syndrome 2
C12.050.351.875.253.096.624 Frasier Syndrome
C12.050.351.875.253.096.687 Gonadal Dysgenesis, 46,XY 22
C12.050.351.875.253.096.750 Kallmann Syndrome 10
C12.050.351.875.253.096.875 WAGR Syndrome 3
C12.050.351.968 Urologic Diseases 834
C12.050.351.968.419 Kidney Diseases 3 059
C12.050.351.968.419.780 Renal Insufficiency 1 021
C12.050.351.968.419.780.750 Renal Insufficiency, Chronic 739
C12.050.351.968.419.780.750.500 Kidney Failure, Chronic 2 824
C12.050.351.968.419.780.750.500.500 Frasier Syndrome
C12.200 Male Urogenital Diseases 200
C12.200.706 Urogenital Abnormalities 145
C12.200.706.316 Disorders of Sex Development 231
C12.200.706.316.096 Disorder of Sex Development, 46,XY 8
C12.200.706.316.096.500 Androgen-Insensitivity Syndrome 56
C12.200.706.316.096.562 Denys-Drash Syndrome 2
C12.200.706.316.096.624 Frasier Syndrome
C12.200.706.316.096.687 Gonadal Dysgenesis, 46,XY 22
C12.200.706.316.096.750 Kallmann Syndrome 10
C12.200.706.316.096.875 WAGR Syndrome 3
C12.200.777 Urologic Diseases 834
C12.200.777.419 Kidney Diseases 3 059
C12.200.777.419.780 Renal Insufficiency 1 021
C12.200.777.419.780.750 Renal Insufficiency, Chronic 739
C12.200.777.419.780.750.500 Kidney Failure, Chronic 2 824
C12.200.777.419.780.750.500.500 Frasier Syndrome
C12.800 Urogenital Abnormalities 145
C12.800.316 Disorders of Sex Development 231
C12.800.316.096 Disorder of Sex Development, 46,XY 8
C12.800.316.096.500 Androgen-Insensitivity Syndrome 56
C12.800.316.096.562 Denys-Drash Syndrome 2
C12.800.316.096.624 Frasier Syndrome
C12.800.316.096.687 Gonadal Dysgenesis, 46,XY 22
C12.800.316.096.750 Kallmann Syndrome 10
C12.800.316.096.875 WAGR Syndrome 3
C12.950 Urologic Diseases 834
C12.950.419 Kidney Diseases 3 059
C12.950.419.780 Renal Insufficiency 1 021
C12.950.419.780.750 Renal Insufficiency, Chronic 739
C12.950.419.780.750.500 Kidney Failure, Chronic 2 824
C12.950.419.780.750.500.500 Frasier Syndrome
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 740
C16.131.939 Urogenital Abnormalities 145
C16.131.939.316 Disorders of Sex Development 231
C16.131.939.316.096 Disorder of Sex Development, 46,XY 8
C16.131.939.316.096.500 Androgen-Insensitivity Syndrome 56
C16.131.939.316.096.562 Denys-Drash Syndrome 2
C16.131.939.316.096.624 Frasier Syndrome
C16.131.939.316.096.687 Gonadal Dysgenesis, 46,XY 22
C16.131.939.316.096.750 Kallmann Syndrome 10
C16.131.939.316.096.875 WAGR Syndrome 3
C16.320 Genetic Diseases, Inborn 1 213
C16.320.033 Adrenal Hyperplasia, Congenital 225
C16.320.051 Alagille Syndrome 19
C16.320.060 alpha 1-Antitrypsin Deficiency 83
C16.320.070 Anemia, Hemolytic, Congenital 48
C16.320.077 Anemia, Hypoplastic, Congenital 3
C16.320.080 Ataxia Telangiectasia 47
C16.320.089 Autoimmune Lymphoproliferative Syndrome 2
C16.320.099 Blood Coagulation Disorders, Inherited 61
C16.320.100 Brugada Syndrome 40
C16.320.129 CADASIL 8
C16.320.144 Camurati-Engelmann Syndrome 6
C16.320.160 Cardiomyopathy, Hypertrophic, Familial 32
C16.320.165 CHARGE Syndrome 1
C16.320.170 Cherubism 1
C16.320.180 Chromosome Disorders 259
C16.320.184 Ciliopathies 9
C16.320.188 Costello Syndrome 3
C16.320.190 Cystic Fibrosis 1 328
C16.320.215 Donohue Syndrome 1
C16.320.240 Dwarfism 97
C16.320.290 Eye Diseases, Hereditary 57
C16.320.298 Familial Multiple Lipomatosis
C16.320.306 Frasier Syndrome
C16.320.314 GATA2 Deficiency 1
C16.320.322 Genetic Diseases, X-Linked 59
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 46
C16.320.400 Heredodegenerative Disorders, Nervous System 45
C16.320.413 Hyper-IgM Immunodeficiency Syndrome 4
C16.320.427 Hyperthyroxinemia, Familial Dysalbuminemic 1
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 5
C16.320.510 Loeys-Dietz Syndrome 7
C16.320.540 Marfan Syndrome 105
C16.320.565 Metabolism, Inborn Errors 711
C16.320.577 Muscular Dystrophies 140
C16.320.590 Myasthenic Syndromes, Congenital 20
C16.320.600 Nail-Patella Syndrome 8
C16.320.700 Neoplastic Syndromes, Hereditary 143
C16.320.709 Oculocerebrorenal Syndrome 9
C16.320.714 Orofaciodigital Syndromes 7
C16.320.718 Osteoarthropathy, Primary Hypertrophic 127
C16.320.728 Osteochondrodysplasias 123
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 45
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
C19 Endocrine System Diseases 883
C19.391 Gonadal Disorders 40
C19.391.119 Disorders of Sex Development 231
C19.391.119.096 Disorder of Sex Development, 46,XY 8
C19.391.119.096.500 Androgen-Insensitivity Syndrome 56
C19.391.119.096.562 Denys-Drash Syndrome 2
C19.391.119.096.624 Frasier Syndrome
C19.391.119.096.687 Gonadal Dysgenesis, 46,XY 22
C19.391.119.096.750 Kallmann Syndrome 10
C19.391.119.096.875 WAGR Syndrome 3
C23 Pathological Conditions, Signs and Symptoms 451
C23.550 Pathologic Processes 195
C23.550.291 Disease Attributes 1 207
C23.550.291.500 Chronic Disease 5 034
C23.550.291.500.906 Renal Insufficiency, Chronic 739
C23.550.291.500.906.500 Kidney Failure, Chronic 2 824
C23.550.291.500.906.500.500 Frasier Syndrome

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