Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive disorder which results...

cancer syndrome Hereditary neuralgic amyotrophy Hereditary nonpolyposis colorectal cancer Hermansky–Pudlak syndrome Hero syndrome Heyde's syndrome High-rise...

blindness. Hermansky–Pudlak syndrome. Effects include a bleeding disorder, IBS, and fibrocystic lung conditions. Chédiak–Higashi syndrome. Similar to...

several syndromes: ABCD syndrome Albinism-hearing loss syndrome Deafness, congenital, with total albinism Ermine phenotype Hermansky-Pudlak syndrome 1 to...

neuropathy Hereditary type 2 neuropathy Hermansky–Pudlak syndrome Hermaphroditism Hernandez–Aguire–Negrete syndrome Herpangina Herpes encephalitis Herpes...

fibrosis[1], chronic kidney disease, idiopathic pulmonary fibrosis, Hermansky-Pudlak syndrome pulmonary fibrosis, skin fibrosis, and metabolic disorders such...

different proteins. A deficiency of CD63 can be associated with Hermansky–Pudlak syndrome. The patients with this disease show signs of abnormal dense granules...

RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...

GATA2 deficiency Barth syndrome Copper deficiency Vitamin B12 deficiency Pearson syndrome Some types of Hermansky–Pudlak syndrome Transient neutropenia:...

Protection Scotland Heart Protection Study, a British clinical trial Hermansky–Pudlak syndrome Handley Page HPS, a prototype aircraft High-pressure sodium, a...

Gray platelet syndrome Quebec platelet disorder Dense granules δ-Storage pool deficiency Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Platelet storage...

Oliver–McFarlane syndrome Cornelia de Lange Syndrome Cone-rod dystrophy Tetralogy of Fallot Hermansky–Pudlak syndrome Goldstein Hutt Syndrome Phylloid hypomelanosis...

activation marker. Deficiency of this protein is associated with Hermansky-Pudlak Syndrome . Also this gene has been associated with tumor progression. The...

Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene. Hermansky–Pudlak syndrome is a disorder of organelle biogenesis...

Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene. This gene encodes a protein containing a potential clathrin-binding...

Hermansky–Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene. This gene encodes a protein that may play a role in organelle...

who suggests she is suffering from a rare and fatal disease, Hermansky-Pudlak syndrome, which is also the cause of her albinism. 75 6 "The Man Covered...

D2-receptor levels. Mutation in the DTNBP1 gene was also shown to cause Hermansky–Pudlak syndrome type 7. In drosophila, dysbindin has been shown to be essential...

toxicity, chronic hypersensitivity pneumonitis, asbestosis and Hermansky–Pudlak syndrome. UIP may be diagnosed by a radiologist using computed tomography...

Bernard–Soulier syndrome Disorders of activation Disorders of granule amount or release Hermansky–Pudlak syndrome Gray platelet syndrome ADP receptor defect...

(VODI) Vici syndrome Purine nucleoside phosphorylase (PNP) deficiency AR-DKC (autosomal dominant dyskeratosis congenital) Hermansky–Pudlak syndrome type 2...

dysfunction–cholestasis syndrome List of cutaneous conditions Chediak Higashi syndrome Griscelli syndrome Hermansky-Pudlak syndrome Sjogren Larsson syndrome RESERVED...

Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome Clotting factor Hemophilia A/VIII B/IX C/XI von Willebrand...

lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky–Pudlak syndrome. The encoded protein may play a role in intracellular vesicular...

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene. This gene encodes a protein that may play a role in organelle...

European ancestry, in particular those people of Celtic descent Hermansky–Pudlak syndrome, most common among Puerto Ricans Finnish heritage diseases, autosomal...

Bonifacino JS, Peters LL (2003). "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex...

protein clathrin. Mutations in this gene are associated with Hermansky–Pudlak syndrome type 2. AP3B1 has been shown to interact with AP3S2. GRCh38: Ensembl...

as melanosomes and platelet-dense granules. A mouse model for Hermansky–Pudlak syndrome is mutated in the murine version of this gene. Some transcripts...

Addition of polyphosphates restored defective plasma clotting of Hermansky–Pudlak syndrome patients, indicating that the inorganic polymer is the endogenous...