MCID: HRM016
MIFTS: 17

Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Categories: Eye diseases, Skin diseases, Metabolic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

MalaCards integrated aliases for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis:

Name: Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 59
Hps Without Pulmonary Fibrosis 59

Characteristics:

Orphanet epidemiological data:

59
hermansky-pudlak syndrome without pulmonary fibrosis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA231512
ICD10 via Orphanet 34 E70.3

Summaries for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

MalaCards based summary : Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis, also known as hps without pulmonary fibrosis, is related to storage pool platelet disease and hermansky-pudlak syndrome 6. An important gene associated with Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis is HPS6 (HPS6, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3). Affiliated tissues include skin and eye, and related phenotypes are integument and pigmentation

Related Diseases for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Diseases related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 storage pool platelet disease 9.6 HPS3 HPS6
2 hermansky-pudlak syndrome 6 9.1 HPS5 HPS6
3 hermansky-pudlak syndrome 5 8.9 HPS5 HPS6
4 hermansky-pudlak syndrome 3 8.8 HPS3 HPS5 HPS6
5 oculocutaneous albinism 8.8 HPS3 HPS5 HPS6
6 hermansky-pudlak syndrome 8.7 HPS3 HPS5 HPS6
7 pulmonary fibrosis 8.7 HPS3 HPS5 HPS6

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis:



Diseases related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis:

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# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.33 HPS3 HPS5 HPS6
2 pigmentation MP:0001186 9.13 HPS3 HPS5 HPS6
3 vision/eye MP:0005391 8.8 HPS5 HPS6 HPS3

Drugs & Therapeutics for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Search Clinical Trials , NIH Clinical Center for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Genetic Tests for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Anatomical Context for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis:

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Skin, Eye

Publications for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Variations for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Expression for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis.

Pathways for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

GO Terms for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Cellular components related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 BLOC-2 complex GO:0031084 8.8 HPS3 HPS5 HPS6

Biological processes related to Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.16 HPS5 HPS6
2 pigmentation GO:0043473 9.13 HPS3 HPS5 HPS6
3 organelle organization GO:0006996 8.8 HPS3 HPS5 HPS6

Sources for Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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