Abdominal Pain
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Albinism
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Patients underwent genetic analysis of selected albinism (Tyrosine and P gene) and HPS genes (HPS-1 and HPS-3) by screening for common mutations and exon sequencing with DNA screening.
|
24766090 |
2016 |
Albinism
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Albinism
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
This retrospective review identified 170 individuals with a specific type of albinism identified by mutation(s) in a gene known to cause albinism (for OCA1, OCA2, and Hermansky-Pudlak syndrome ([HPS]) or a specific phenotype (white hair and no melanin pigment in OCA1A; pigmentary mosaicism in the obligate carriers for males with OA1).
|
27647118 |
2016 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
|
9497254 |
1998 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
CLINGEN |
Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.
|
9705234 |
1998 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
CLINGEN |
The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.
|
9256466 |
1997 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
HPS1 mutations cause HPS-1 disease, and ADTB3A mutations cause HPS-2 disease, which is known to involve abnormal intracellular vesicle formation.
|
11590544 |
2001 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
CLINGEN |
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
|
27593200 |
2016 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).
|
20514622 |
2010 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
MGD |
Iris phenotypes and pigment dispersion caused by genes influencing pigmentation.
|
18715234 |
2008 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes.
|
10971344 |
2000 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
CLINGEN |
A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family.
|
27942505 |
2016 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
CLINGEN |
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
|
8896559 |
1996 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
CTD_human |
|
|
|
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders.
|
26806224 |
2016 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
CLINGEN |
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
|
16185271 |
2005 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.
|
7573033 |
1995 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
CLINGEN |
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
|
12847290 |
2003 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
CLINGEN |
Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes.
|
29190429 |
2018 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
CLINGEN |
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.
|
12756248 |
2003 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
Biomarker
|
disease |
MGD |
Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity.
|
7089489 |
1982 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
|
17365864 |
2007 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
(2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome 1-7 (HPS1-7); Chediak-Higashi syndrome 1 (CHS1).
|
15452859 |
2004 |