MCID: HRM010
MIFTS: 26

Hermansky-Pudlak Syndrome 7 malady

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 7

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Aliases & Descriptions for Hermansky-Pudlak Syndrome 7:

Name: Hermansky-Pudlak Syndrome 7 50 11 23 68 12 66
Hps7 23 52 68
Hermansky-Pudlak Syndrome Type 7 52 25
 
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 68
Delta Storage Pool Disease 68
Hps 7 23

Characteristics:

Orphanet epidemiological data:

52
hps7:
Prevalence: <1/1000000 (Worldwide)

HPO:

62
hermansky-pudlak syndrome 7:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614076
Disease Ontology11 DOID:0060545
Orphanet52 ORPHA231531
ICD10 via Orphanet29 E70.3
MedGen35 C3279756
MeSH37 D022861

Summaries for Hermansky-Pudlak Syndrome 7

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UniProtKB/Swiss-Prot:68 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 2, and has symptoms including epistaxis, visual impairment and nystagmus. An important gene associated with Hermansky-Pudlak Syndrome 7 is DTNBP1 (Dystrobrevin Binding Protein 1). Affiliated tissues include lung, skin and eye.

Disease Ontology:11 A type of hermansky-pudlak syndrome caused by homozygous mutation in the dtnbp1 gene on chromosome 6p22.3.

Description from OMIM:50 614076

Related Diseases for Hermansky-Pudlak Syndrome 7

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Diseases in the Hermansky-Pudlak Syndrome family:

Hermansky-Pudlak Syndrome 3 Hermansky-Pudlak Syndrome 2
hermansky-pudlak syndrome 7 Hermansky-Pudlak Syndrome 1
Hermansky-Pudlak Syndrome 6 Hermansky-Pudlak Syndrome 5
Hermansky-Pudlak Syndrome 9 Hermansky-Pudlak Syndrome 8
Hermansky-Pudlak Syndrome 4

Diseases related to Hermansky-Pudlak Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1isolated delta-storage pool disease12.3
2hermansky-pudlak syndrome 211.3
3hermansky-pudlak syndrome 110.0
4hermansky-pudlak syndrome10.0

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 8)
id Description Frequency HPO Source Accession
1 epistaxis HP:0000421
2 visual impairment HP:0000505
3 nystagmus HP:0000639
4 bruising susceptibility HP:0000978
5 albinism HP:0001022
6 ocular albinism HP:0001107
7 impaired platelet aggregation HP:0003540
8 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 725 23 DTNBP1

Anatomical Context for Hermansky-Pudlak Syndrome 7

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

34
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet