MCID: HRM018
MIFTS: 19

Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

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

Aliases & Classifications for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

MalaCards integrated aliases for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis:

Name: Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 59
Hps with Pulmonary Fibrosis 59

Characteristics:

Orphanet epidemiological data:

59
hermansky-pudlak syndrome with pulmonary fibrosis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA231500
ICD10 via Orphanet 34 E70.3

Summaries for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

MalaCards based summary : Hermansky-Pudlak Syndrome with Pulmonary Fibrosis, also known as hps with pulmonary fibrosis, is related to hermansky-pudlak syndrome and pulmonary fibrosis. An important gene associated with Hermansky-Pudlak Syndrome with Pulmonary Fibrosis is HPS1 (HPS1, Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1), and among its related pathways/superpathways is RAB GEFs exchange GTP for GDP on RABs. Affiliated tissues include skin and eye, and related phenotypes are hearing/vestibular/ear and pigmentation

Related Diseases for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Diseases related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 29.1 HPS1 HPS4
2 pulmonary fibrosis 28.7 HPS1 HPS4
3 hermansky-pudlak syndrome 1 9.5 HPS1 HPS4
4 oculocutaneous albinism 9.4 HPS1 HPS4
5 albinism 9.3 HPS1 HPS4

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis:



Diseases related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.96 HPS1 HPS4
2 pigmentation MP:0001186 8.62 HPS1 HPS4

Drugs & Therapeutics for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Search Clinical Trials , NIH Clinical Center for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Genetic Tests for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Anatomical Context for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis:

41
Skin, Eye

Publications for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Articles related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis:

# Title Authors Year
1
Novel aberrations of HPS1 mRNA detected in a case of Hermansky-Pudlak syndrome with pulmonary fibrosis. ( 15127980 )
2004

Variations for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Expression for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis.

Pathways for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Pathways related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.58 HPS1 HPS4

GO Terms for Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Cellular components related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.16 HPS1 HPS4
2 lysosome GO:0005764 8.96 HPS1 HPS4
3 BLOC-3 complex GO:0031085 8.62 HPS1 HPS4

Biological processes related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of molecular function GO:0065009 9.16 HPS1 HPS4
2 lysosome organization GO:0007040 8.96 HPS1 HPS4
3 melanosome assembly GO:1903232 8.62 HPS1 HPS4

Molecular functions related to Hermansky-Pudlak Syndrome with Pulmonary Fibrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein dimerization activity GO:0046983 8.96 HPS1 HPS4
2 guanyl-nucleotide exchange factor activity GO:0005085 8.62 HPS1 HPS4

Sources for Hermansky-Pudlak Syndrome with 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
51 NDF-RT
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
Content
Loading form....