MCID: HRM010
MIFTS: 28

Hermansky-Pudlak Syndrome 7 malady

Genetic diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases, Rare diseases categories

Aliases & Classifications for Hermansky-Pudlak Syndrome 7

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Sources:
49OMIM, 11diseasecard, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Hermansky-Pudlak Syndrome 7:

Name: Hermansky-Pudlak Syndrome 7 49 11 22 65 67
Hps7 22 51 67
Hermansky-Pudlak Syndrome Type 7 51 24
 
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 67
Delta Storage Pool Disease 67
Hps 7 22


Classifications:



External Ids:

OMIM49 614076
Orphanet51 231531
ICD10 via Orphanet28 E70.3
MedGen34 C3279756
MeSH36 D022861

Summaries for Hermansky-Pudlak Syndrome 7

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UniProtKB/Swiss-Prot:67 Hermansky-Pudlak syndrome 7: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.

MalaCards based summary: Hermansky-Pudlak Syndrome 7, also known as hps7, is related to isolated delta-storage pool disease and hermansky-pudlak syndrome 3, and has symptoms including autosomal recessive inheritance, epistaxis and visual impairment. An important gene associated with Hermansky-Pudlak Syndrome 7 is DTNBP1 (Dystrobrevin Binding Protein 1). Affiliated tissues include lung, skin and eye.

Description from OMIM:49 614076

Related Diseases for Hermansky-Pudlak Syndrome 7

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Graphical network of diseases related to Hermansky-Pudlak Syndrome 7:



Diseases related to hermansky-pudlak syndrome 7

Symptoms for Hermansky-Pudlak Syndrome 7

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Symptoms by clinical synopsis from OMIM:

614076

Clinical features from OMIM:

614076

HPO human phenotypes related to Hermansky-Pudlak Syndrome 7:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 epistaxis HP:0000421
3 visual impairment HP:0000505
4 nystagmus HP:0000639
5 bruising susceptibility HP:0000978
6 albinism HP:0001022
7 ocular albinism HP:0001107
8 impaired platelet aggregation HP:0003540
9 reduced visual acuity HP:0007663

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 7

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hermansky-Pudlak Syndrome 7

Genetic Tests for Hermansky-Pudlak Syndrome 7

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Genetic tests related to Hermansky-Pudlak Syndrome 7:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 722 24 DTNBP1

Anatomical Context for Hermansky-Pudlak Syndrome 7

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MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 7:

33
Lung, Skin, Eye

Animal Models for Hermansky-Pudlak Syndrome 7 or affiliated genes

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Publications for Hermansky-Pudlak Syndrome 7

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Variations for Hermansky-Pudlak Syndrome 7

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Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 7:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DTNBP1NM_032122.4(DTNBP1): c.177G> A (p.Trp59Ter)single nucleotide variantPathogenicrs727502866GRCh38Chr 6, 15637789: 15637789
2DTNBP1NM_032122.4(DTNBP1): c.307C> T (p.Gln103Ter)single nucleotide variantPathogenicrs104893945GRCh37Chr 6, 15627622: 15627622

Expression for genes affiliated with Hermansky-Pudlak Syndrome 7

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Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 7.

Pathways for genes affiliated with Hermansky-Pudlak Syndrome 7

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GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 7

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Sources for Hermansky-Pudlak Syndrome 7

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet