 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
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| 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
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| Concept/Terms |
Hermanski-Pudlak Syndrome- Hermanski-Pudlak Syndrome
- Hermanski Pudlak Syndrome
- Hermansky-Pudlak Syndrome
- Hermansky Pudlak Syndrome
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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 |
|---|
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hermanski-Pudlak Syndrome" by people in Profiles.
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Lansdon LA, Chen D, Rush ET, Engleman K, Zhang L, Saunders CJ, Oroszi G. A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome. Cold Spring Harb Mol Case Stud. 2021 10; 7(5).
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Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SF. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. Blood. 2012 Mar 29; 119(13):3185-7.
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