Description:
HERMANSKY-PUDLAK SYNDROME; HPS
HPS1 GENE; HPS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
HPS1 |
| Chromosomal Location |
10q23.1 |
| Allelic Variant 1 |
; Hermansky-Pudlak syndrome |
| Identified Mutation |
E397delC |
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| Gene |
HPS1 |
| Chromosomal Location |
10q23.1 |
| Allelic Variant 2 |
; Hermansky-Pudlak syndrome |
| Identified Mutation |
E397delC |
| Remarks |
Albinism; nystagmus; blind; bleeding diathesis; granulomatous colitis; absent platelet dense bodies; platelet storage pool defect; hypercarotenemia; homozygous for E397delC mutation in HPS gene |
| Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong CT, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA, Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet62:593-8 1998 |
| PubMed ID: 9497254 |
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| Mahadeo R, Markowitz J, Fisher S, Daum F, Hermansky-Pudlak syndrome with granulomatous colitis in children. J Pediatr118:904-6 1991 |
| PubMed ID: 1674961 |
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