Hermanski-Pudlak Syndrome
"Hermanski-Pudlak Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
| Descriptor ID |
D022861
|
| MeSH Number(s) |
C11.270.040.545.400 C15.378.100.100.515 C15.378.100.685.400 C15.378.140.735.400 C15.378.463.735.400 C16.320.099.515 C16.320.290.040.100.400 C16.320.565.100.102.100.400 C16.320.850.080.100.400 C17.800.621.440.102.100.400 C17.800.827.080.100.400 C18.452.648.100.102.100.400
|
| Concept/Terms |
Hermanski-Pudlak Syndrome- Hermanski-Pudlak Syndrome
- Hermanski Pudlak Syndrome
- Hermansky-Pudlak Syndrome
- Hermansky Pudlak Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Hermanski-Pudlak Syndrome".
- Diseases [C]
- Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
- Albinism [C11.270.040]
- Albinism, Oculocutaneous [C11.270.040.545]
- Hermanski-Pudlak Syndrome [C11.270.040.545.400]
- Hemic and Lymphatic Diseases [C15]
- Hematologic Diseases [C15.378]
- Blood Coagulation Disorders [C15.378.100]
- Blood Coagulation Disorders, Inherited [C15.378.100.100]
- Hermanski-Pudlak Syndrome [C15.378.100.100.515]
- Platelet Storage Pool Deficiency [C15.378.100.685]
- Hermanski-Pudlak Syndrome [C15.378.100.685.400]
- Blood Platelet Disorders [C15.378.140]
- Platelet Storage Pool Deficiency [C15.378.140.735]
- Hermanski-Pudlak Syndrome [C15.378.140.735.400]
- Hemorrhagic Disorders [C15.378.463]
- Platelet Storage Pool Deficiency [C15.378.463.735]
- Hermanski-Pudlak Syndrome [C15.378.463.735.400]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Blood Coagulation Disorders, Inherited [C16.320.099]
- Hermanski-Pudlak Syndrome [C16.320.099.515]
- Eye Diseases, Hereditary [C16.320.290]
- Albinism [C16.320.290.040]
- Albinism, Oculocutaneous [C16.320.290.040.100]
- Hermanski-Pudlak Syndrome [C16.320.290.040.100.400]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Albinism [C16.320.565.100.102]
- Albinism, Oculocutaneous [C16.320.565.100.102.100]
- Hermanski-Pudlak Syndrome [C16.320.565.100.102.100.400]
- Skin Diseases, Genetic [C16.320.850]
- Albinism [C16.320.850.080]
- Albinism, Oculocutaneous [C16.320.850.080.100]
- Hermanski-Pudlak Syndrome [C16.320.850.080.100.400]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Pigmentation Disorders [C17.800.621]
- Hypopigmentation [C17.800.621.440]
- Albinism [C17.800.621.440.102]
- Albinism, Oculocutaneous [C17.800.621.440.102.100]
- Hermanski-Pudlak Syndrome [C17.800.621.440.102.100.400]
- Skin Diseases, Genetic [C17.800.827]
- Albinism [C17.800.827.080]
- Albinism, Oculocutaneous [C17.800.827.080.100]
- Hermanski-Pudlak Syndrome [C17.800.827.080.100.400]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Albinism [C18.452.648.100.102]
- Albinism, Oculocutaneous [C18.452.648.100.102.100]
- Hermanski-Pudlak Syndrome [C18.452.648.100.102.100.400]
Below are MeSH descriptors whose meaning is more specific than "Hermanski-Pudlak Syndrome".
This graph shows the total number of publications written about "Hermanski-Pudlak Syndrome" by people in this website by year, and whether "Hermanski-Pudlak Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2013 | 1 | 0 | 1 |
| 2018 | 2 | 0 | 2 |
| 2019 | 2 | 0 | 2 |
To return to the timeline, click here.
Below are the most recent publications written about "Hermanski-Pudlak Syndrome" by people in Profiles.
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A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China. Medicine (Baltimore). 2019 Aug; 98(33):e16899.
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Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature. J Allergy Clin Immunol Pract. 2019 Sep - Oct; 7(7):2476-2478.e5.
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Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases. Thorax. 2018 11; 73(11):1085-1088.
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Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation. PLoS One. 2018; 13(3):e0194193.
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Two distinct phenotypes in pigmented cells of different embryonic origins in eyes of pale ear mice. Exp Eye Res. 2014 Feb; 119:35-43.