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	hermansky pudlak syndrome

Disease ID	583
Disease	hermansky pudlak syndrome
Definition	Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
Synonym	albinism with haemorrhagic diathesis albinism with hemorrhagic diathesis alpha storage pool disease h p s h s p hermanski pudlak syndrome hermanski-pudlak syndrome hermanski-pudlak syndrome [disease/finding] hermansky-pudlack syndrome hermansky-pudlack syndrome (disorder) hermansky-pudlack syndrome -retired- hermansky-pudlak syndrome hermansky-pudlak syndrome (disorder) hps (hermansky pudlak syndrome)
Orphanet	ORPHANET:79430
DOID	DOID:3753
ICD10	ICD10CM:E70.331
UMLS	C0079504
MeSH	D022861
SNOMED-CT	SNOMEDCT_US_2016_09_01:9311003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0034069 \| pulmonary fibrosis \| 3 C0178238 \| intestinal infection \| 1 C0032285 \| pneumonia \| 1 C1290344 \| nonspecific interstitial pneumonia \| 1 C0024291 \| hemophagocytic lymphohistiocytosis \| 1 C0178238 \| intestinal infections \| 1 C0078918 \| oculocutaneous albinism \| 1 C0027947 \| neutropenia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) 26258 \| BLOC1S6 \| UniProtKB-KW;GHR 84062 \| DTNBP1 \| GHR;UNIPROT;UniProtKB-KW 84343 \| HPS3 \| GHR;UNIPROT;UniProtKB-KW 89781 \| HPS4 \| GHR;UNIPROT;UniProtKB-KW 8943 \| AP3D1 \| UniProtKB-KW 11234 \| HPS5 \| GHR;UNIPROT;UniProtKB-KW 388552 \| BLOC1S3 \| GHR;UNIPROT;UniProtKB-KW 8546 \| AP3B1 \| UniProtKB-KW;GHR 79803 \| HPS6 \| GHR;UNIPROT;UniProtKB-KW 3257 \| HPS1 \| GHR;UNIPROT;UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 84343 \| HPS3 \| CIPHER 3257 \| HPS1 \| CIPHER 4948 \| OCA2 \| CIPHER 7299 \| TYR \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:73) 10257 \| ABCC4 \| 1.035 \| DISEASES 3267 \| AGFG1 \| 2.698 \| DISEASES 1174 \| AP1S1 \| 2.664 \| DISEASES 8943 \| AP3D1 \| 4.008 \| DISEASES 91056 \| AP5B1 \| 1.366 \| DISEASES 85300 \| ATCAY \| 2.468 \| DISEASES 538 \| ATP7A \| 1.925 \| DISEASES 2647 \| BLOC1S1 \| 5.006 \| DISEASES 282991 \| BLOC1S2 \| 1.715 \| DISEASES 388552 \| BLOC1S3 \| 5.442 \| DISEASES 63915 \| BLOC1S5 \| 5.086 \| DISEASES 51622 \| CCZ1 \| 3.892 \| DISEASES 910 \| CD1B \| 1.599 \| DISEASES 1121 \| CHM \| 2.256 \| DISEASES 1122 \| CHML \| 2.316 \| DISEASES 1638 \| DCT \| 3.02 \| DISEASES 9829 \| DNAJC6 \| 2.133 \| DISEASES 1837 \| DTNA \| 1.722 \| DISEASES 1838 \| DTNB \| 2.636 \| DISEASES 84062 \| DTNBP1 \| 4.392 \| DISEASES 1908 \| EDN3 \| 1.655 \| DISEASES 10938 \| EHD1 \| 1.17 \| DISEASES 2149 \| F2R \| 1.886 \| DISEASES 2664 \| GDI1 \| 2.346 \| DISEASES 4935 \| GPR143 \| 1.864 \| DISEASES 10456 \| HAX1 \| 1.343 \| DISEASES 3109 \| HLA-DMB \| 1.371 \| DISEASES 3257 \| HPS1 \| 5.373 \| DISEASES 89781 \| HPS4 \| 6.91 \| DISEASES 3363 \| HTR7 \| 1.345 \| DISEASES 3916 \| LAMP1 \| 3.269 \| DISEASES 3920 \| LAMP2 \| 2.786 \| DISEASES 3980 \| LIG3 \| 1.829 \| DISEASES 1130 \| LYST \| 3.694 \| DISEASES 4145 \| MATK \| 1.362 \| DISEASES 4157 \| MC1R \| 1.665 \| DISEASES 10724 \| MGEA5 \| 1.029 \| DISEASES 2315 \| MLANA \| 1.152 \| DISEASES 4644 \| MYO5A \| 3.248 \| DISEASES 4647 \| MYO7A \| 1.131 \| DISEASES 23218 \| NBEAL2 \| 4.629 \| DISEASES 58484 \| NLRC4 \| 1.059 \| DISEASES 4905 \| NSF \| 1.268 \| DISEASES 4948 \| OCA2 \| 4.625 \| DISEASES 5053 \| PAH \| 2.428 \| DISEASES 5077 \| PAX3 \| 2.079 \| DISEASES 6490 \| PMEL \| 2.468 \| DISEASES 5725 \| PTBP1 \| 1.302 \| DISEASES 58155 \| PTBP2 \| 1.864 \| DISEASES 11251 \| PTGDR2 \| 1.267 \| DISEASES 84795 \| PYROXD2 \| 3.316 \| DISEASES 5873 \| RAB27A \| 4.907 \| DISEASES 10981 \| RAB32 \| 3.186 \| DISEASES 53916 \| RAB4B \| 2.972 \| DISEASES 9367 \| RAB9A \| 3.673 \| DISEASES 6238 \| RRBP1 \| 1.572 \| DISEASES 51150 \| SDF4 \| 1.037 \| DISEASES 6439 \| SFTPB \| 2.541 \| DISEASES 283652 \| SLC24A5 \| 3.235 \| DISEASES 788 \| SLC25A20 \| 1.688 \| DISEASES 340146 \| SLC35D3 \| 4.619 \| DISEASES 23557 \| SNAPIN \| 4.216 \| DISEASES 6663 \| SOX10 \| 2.227 \| DISEASES 80320 \| SP6 \| 1.296 \| DISEASES 23673 \| STX12 \| 3.335 \| DISEASES 6814 \| STXBP3 \| 2.349 \| DISEASES 7295 \| TXN \| 1.275 \| DISEASES 7306 \| TYRP1 \| 5.308 \| DISEASES 8615 \| USO1 \| 2.185 \| DISEASES 8409 \| UXT \| 2.571 \| DISEASES 64601 \| VPS16 \| 2.231 \| DISEASES 10490 \| VTI1B \| 2.475 \| DISEASES 23038 \| WDTC1 \| 2.911 \| DISEASES
Locus	(Waiting for update.)

Disease ID	583
Disease	hermansky pudlak syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0001022 \| Achromasia \| 2 HP:0007443 \| Partial absent skin pigmentation \| 1 HP:0002090 \| Pneumonia \| 1 HP:0002206 \| Pulmonary fibrosis \| 1 HP:0001875 \| Neutropenia \| 1 HP:0001010 \| Hypopigmentation of the skin \| 1

Disease ID	583
Disease	hermansky pudlak syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0206061 \| interstitial pneumonia \| 2 C0024291 \| hemophagocytic lymphohistiocytosis \| 1

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
HPS1	c.972delC	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	583
Disease	hermansky pudlak syndrome
Case	(Waiting for update.)

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