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Standards Ontologies Notations
Hermansky-Pudlak syndrome

Summary
Definition
A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
Super Class
autosomal recessive disease syndrome
Disease Ontology
DOID:3753
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
6352 CCL5 C-C motif chemokine ligand 5
7852 CXCR4 C-X-C motif chemokine receptor 4
8546 AP3B1 adaptor related protein complex 3 subunit beta 1
23657 SLC7A11 solute carrier family 7 member 11
84062 DTNBP1 dystrobrevin binding protein 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
11774 Ap3b1 adaptor-related protein complex 3, beta 1 subunit
12767 Cxcr4 C-X-C motif chemokine receptor 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
60628 Cxcr4 C-X-C motif chemokine receptor 4
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
380373 cxcr4.S C-X-C motif chemokine receptor 4 S homeolog Xenopus laevis (African clawed frog)
100038176 cxcr4 C-X-C motif chemokine receptor 4 Xenopus tropicalis (tropical clawed frog)
100192360 cxcr4.L C-X-C motif chemokine receptor 4 L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
177113 M57.2 Geranylgeranyl transferase type-2 subunit alpha;Protein geranylgeranyltransferase type II
Displaying all 2 entries
Gene ID Gene Symbol Description Source
853177 APL6 Apl6p
855906 APL5 Apl5p
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024