Donohue Syndrome [Donohueův syndrom]

topical
1
Terms

Donohueova nemoc
dysendokrinismus
leprechaunismus
Mendenhallův syndrom
Rabsonův-Mendenhallův syndrom

 

Leprechaunism
Mendenhall Syndrome
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Rabson-Mendenhall Syndrome

Persistent link   https://www.medvik.cz/link/D056731
Definition

Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.

DUI
D056731 MeSH Browser
CUI
M0528899
Previous indexing
Abnormalities, Multiple (2002-2009); Acanthosis Nigricans (2002-2009); Diabetes Mellitus (2000-2009)
History note
2010
Public note
2010

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 1
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 1
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
C05 Musculoskeletal Diseases 1 125
C05.660 Musculoskeletal Abnormalities 107
C05.660.207 Craniofacial Abnormalities 82
C05.660.207.103 22q11 Deletion Syndrome 2
C05.660.207.207 Cleidocranial Dysplasia 7
C05.660.207.219 Costello Syndrome 3
C05.660.207.231 Craniofacial Dysostosis 28
C05.660.207.240 Craniosynostoses 56
C05.660.207.325 Donohue Syndrome 1
C05.660.207.410 Holoprosencephaly 9
C05.660.207.525 LEOPARD Syndrome 11
C05.660.207.532 Loeys-Dietz Syndrome 7
C05.660.207.536 Megalencephaly 7
C05.660.207.540 Maxillofacial Abnormalities 28
C05.660.207.620 Microcephaly 78
C05.660.207.690 Noonan Syndrome 52
C05.660.207.700 Orofaciodigital Syndromes 7
C05.660.207.707 Plagiocephaly 3
C05.660.207.720 Platybasia 12
C05.660.207.850 Rubinstein-Taybi Syndrome 12
C05.660.207.925 Silver-Russell Syndrome 3
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 753
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 33
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 21
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 9
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 35
C16.131.077.717 Polycystic Kidney Diseases 83
C16.131.077.730 Prader-Willi Syndrome 92
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 1 215
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
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.394 Glucose Metabolism Disorders 103
C18.452.394.750 Diabetes Mellitus 9 589
C18.452.394.750.074 Diabetes Mellitus, Experimental 295
C18.452.394.750.124 Diabetes Mellitus, Type 1 3 017
C18.452.394.750.149 Diabetes Mellitus, Type 2 7 378
C18.452.394.750.448 Diabetes, Gestational 429
C18.452.394.750.654 Donohue Syndrome 1
C18.452.394.750.714 Latent Autoimmune Diabetes in Adults 15
C18.452.394.750.774 Prediabetic State 252
C19 Endocrine System Diseases 887
C19.246 Diabetes Mellitus 9 589
C19.246.099 Diabetes Complications 3 181
C19.246.200 Diabetes, Gestational 429
C19.246.240 Diabetes Mellitus, Experimental 295
C19.246.267 Diabetes Mellitus, Type 1 3 017
C19.246.300 Diabetes Mellitus, Type 2 7 378
C19.246.537 Donohue Syndrome 1
C19.246.656 Latent Autoimmune Diabetes in Adults 15
C19.246.774 Prediabetic State 252

Insulin Receptor, Defect in Disease MeSH Browser

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