Hermanski-Pudlak Syndrome [Heřmanského-Pudlákův syndrom]

topical
7
Terms

syndrom Heřmanského a Pudláka u albínů
syndrom Heřmanského-Pudláka

 

Hermansky-Pudlak Syndrome

Persistent link   https://www.medvik.cz/link/D022861
Definition

Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

DUI
D022861 MeSH Browser
CUI
M0024620
Previous indexing
Albinism, Oculocutaneous (1990-2000)
History note
2001
Public note
2001

Allowable subheadings

BL
blood 1
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 2
CO
complications
DI
diagnosis 3
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics 2
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 1
PP
physiopathology 3
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 1
UR
urine
VE
veterinary
VI
virology

C Diseases
C11 Eye Diseases 1 491
C11.270 Eye Diseases, Hereditary 57
C11.270.040 Albinism 17
C11.270.040.545 Albinism, Oculocutaneous 7
C11.270.040.545.400 Hermanski-Pudlak Syndrome 7
C15 Hemic and Lymphatic Diseases 91
C15.378 Hematologic Diseases 975
C15.378.100 Blood Coagulation Disorders 600
C15.378.100.100 Blood Coagulation Disorders, Inherited 64
C15.378.100.100.037 Activated Protein C Resistance 105
C15.378.100.100.056 Afibrinogenemia 39
C15.378.100.100.075 Antithrombin III Deficiency 24
C15.378.100.100.080 Bernard-Soulier Syndrome 9
C15.378.100.100.300 Factor V Deficiency 7
C15.378.100.100.310 Factor VII Deficiency 6
C15.378.100.100.320 Factor X Deficiency 2
C15.378.100.100.325 Factor XI Deficiency 12
C15.378.100.100.330 Factor XII Deficiency 8
C15.378.100.100.335 Factor XIII Deficiency 4
C15.378.100.100.500 Hemophilia A 691
C15.378.100.100.510 Hemophilia B 216
C15.378.100.100.515 Hermanski-Pudlak Syndrome 7
C15.378.100.100.550 Hypoprothrombinemias 4
C15.378.100.100.690 Protein C Deficiency 31
C15.378.100.100.820 Thrombasthenia 7
C15.378.100.100.900 von Willebrand Diseases 103
C15.378.100.100.970 Wiskott-Aldrich Syndrome 20
C15.378.100.685 Platelet Storage Pool Deficiency 1
C15.378.100.685.400 Hermanski-Pudlak Syndrome 7
C15.378.140 Blood Platelet Disorders 123
C15.378.140.735 Platelet Storage Pool Deficiency 1
C15.378.140.735.400 Hermanski-Pudlak Syndrome 7
C15.378.463 Hemorrhagic Disorders 95
C15.378.463.735 Platelet Storage Pool Deficiency 1
C15.378.463.735.400 Hermanski-Pudlak Syndrome 7
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 214
C16.320.099 Blood Coagulation Disorders, Inherited 64
C16.320.099.037 Activated Protein C Resistance 105
C16.320.099.056 Afibrinogenemia 39
C16.320.099.075 Antithrombin III Deficiency 24
C16.320.099.080 Bernard-Soulier Syndrome 9
C16.320.099.300 Factor V Deficiency 7
C16.320.099.310 Factor VII Deficiency 6
C16.320.099.320 Factor X Deficiency 2
C16.320.099.325 Factor XI Deficiency 12
C16.320.099.330 Factor XII Deficiency 8
C16.320.099.335 Factor XIII Deficiency 4
C16.320.099.417 Gray Platelet Syndrome 1
C16.320.099.500 Hemophilia A 691
C16.320.099.510 Hemophilia B 216
C16.320.099.515 Hermanski-Pudlak Syndrome 7
C16.320.099.550 Hypoprothrombinemias 4
C16.320.099.690 Protein C Deficiency 31
C16.320.099.820 Thrombasthenia 7
C16.320.099.920 von Willebrand Diseases 103
C16.320.099.970 Wiskott-Aldrich Syndrome 20
C16.320.290 Eye Diseases, Hereditary 57
C16.320.290.040 Albinism 17
C16.320.290.040.100 Albinism, Oculocutaneous 7
C16.320.290.040.100.400 Hermanski-Pudlak Syndrome 7
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.100 Amino Acid Metabolism, Inborn Errors 124
C16.320.565.100.102 Albinism 17
C16.320.565.100.102.100 Albinism, Oculocutaneous 7
C16.320.565.100.102.100.400 Hermanski-Pudlak Syndrome 7
C16.320.850 Skin Diseases, Genetic 89
C16.320.850.080 Albinism 17
C16.320.850.080.100 Albinism, Oculocutaneous 7
C16.320.850.080.100.400 Hermanski-Pudlak Syndrome 7
C17 Skin and Connective Tissue Diseases 32
C17.800 Skin Diseases 2 800
C17.800.621 Pigmentation Disorders 132
C17.800.621.440 Hypopigmentation 15
C17.800.621.440.102 Albinism 17
C17.800.621.440.102.100 Albinism, Oculocutaneous 7
C17.800.621.440.102.100.400 Hermanski-Pudlak Syndrome 7
C17.800.827 Skin Diseases, Genetic 89
C17.800.827.080 Albinism 17
C17.800.827.080.100 Albinism, Oculocutaneous 7
C17.800.827.080.100.400 Hermanski-Pudlak Syndrome 7
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 197
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.100 Amino Acid Metabolism, Inborn Errors 124
C18.452.648.100.102 Albinism 17
C18.452.648.100.102.100 Albinism, Oculocutaneous 7
C18.452.648.100.102.100.400 Hermanski-Pudlak Syndrome 7

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Disease MeSH Browser

Hermansky Pudlak syndrome 2 Disease MeSH Browser

Kotzot-Richter syndrome Disease MeSH Browser

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