MCID: HRM010
MIFTS: 25

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 52 11 24 70 12 68
Hps7 24 54 70
Hermansky-Pudlak Syndrome Type 7 54 27
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 68
 
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 70
Platelet Storage Pool Deficiency 68
Delta Storage Pool Disease 70
Hps 7 24

Characteristics:

Orphanet epidemiological data:

54
hps7:
Prevalence: <1/1000000 (Worldwide)

HPO:

64
hermansky-pudlak syndrome 7:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614076
Disease Ontology11 DOID:0060545
Orphanet54 ORPHA231531
ICD10 via Orphanet31 E70.3
MedGen37 C3279756
MeSH39 D022861

Summaries for Hermansky-Pudlak Syndrome 7

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UniProtKB/Swiss-Prot:70 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 pancreatitis, hereditary, 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 that has material basis in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.

Description from OMIM:52 614076

Related Diseases for Hermansky-Pudlak Syndrome 7

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Diseases in the Hermansky-Pudlak Syndrome 2 family:

Hermansky-Pudlak Syndrome 3 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 disease12.2
2pancreatitis, hereditary11.5
3hermansky-pudlak syndrome 110.9

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 7

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Symptoms by clinical synopsis from OMIM:

614076

Clinical features from OMIM:

614076

Human phenotypes related to Hermansky-Pudlak Syndrome 7:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 epistaxis64 HP:0000421
2 visual impairment64 HP:0000505
3 nystagmus64 HP:0000639
4 bruising susceptibility64 HP:0000978
5 albinism64 HP:0001022
6 ocular albinism64 HP:0001107
7 impaired platelet aggregation64 HP:0003540
8 reduced visual acuity64 HP:0007663

UMLS symptoms related to Hermansky-Pudlak Syndrome 7:


abdominal pain

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 727 24 DTNBP1

Anatomical Context for Hermansky-Pudlak Syndrome 7

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

36
Lung, Skin, Eye

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)SNVPathogenicrs727502866GRCh38Chr 6, 15637789: 15637789
2DTNBP1NM_032122.4(DTNBP1): c.307C> T (p.Gln103Ter)SNVPathogenicrs104893945GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet