 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 |
|---|
| 2012 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 |
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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Stearman RS, Cornelius AR, Young LR, Conklin DS, Mickler EA, Lu X, Hara N, Fettig LM, Phang TL, Geraci MW. Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations in Context. Am J Respir Crit Care Med. 2019 07 15; 200(2):253-256.
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Young LR, Gulleman PM, Bridges JP, Weaver TE, Deutsch GH, Blackwell TS, McCormack FX. The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med. 2012 Nov 15; 186(10):1014-24.
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Osanai K, Higuchi J, Oikawa R, Kobayashi M, Tsuchihara K, Iguchi M, Huang J, Voelker DR, Toga H. Altered lung surfactant system in a Rab38-deficient rat model of Hermansky-Pudlak syndrome. Am J Physiol Lung Cell Mol Physiol. 2010 Feb; 298(2):L243-51.
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Osanai K, Voelker DR. Analysis and expression of Rab38 in oculocutaneous lung disease. Methods Enzymol. 2008; 438:203-15.
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Santiago Borrero PJ, Rodr?guez-P?rez Y, Renta JY, Izquierdo NJ, Del Fierro L, Mu?oz D, Molina NL, Ram?rez S, Pag?n-Mercado G, Ort?z I, Rivera-Caragol E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006 Jan; 126(1):85-90.
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Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol. 2005 Oct; 125(4):715-20.
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Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, Sviderskaya EV, Bennett DC, Park YM, Gahl WA, Huizing M, Spritz RA, Ben S, Novak EK, Tan J, Swank RT. Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci U S A. 2005 Aug 02; 102(31):10964-9.
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Oiso N, Riddle SR, Serikawa T, Kuramoto T, Spritz RA. The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. Mamm Genome. 2004 Apr; 15(4):307-14.
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Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003 Sep; 35(1):84-9.
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Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet. 2003 Feb; 33(2):145-53.
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