HPS7
MCID: HRM010
MIFTS: 35

Hermansky-Pudlak Syndrome 7 (HPS7)

Categories: Blood diseases, Cancer diseases, Eye diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hermansky-Pudlak Syndrome 7

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 7:

Name: Hermansky-Pudlak Syndrome 7 58 12 76 30 13 6 15 74
Hps7 58 60 76
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 74
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 76
Hermansky-Pudlak Syndrome, Type 7 41
Platelet Storage Pool Deficiency 74
Hermansky-Pudlak Syndrome Type 7 60
Delta Storage Pool Disease 76

Characteristics:

Orphanet epidemiological data:

60
hermansky-pudlak syndrome type 7
Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
two unrelated patients have been reported (last curated january 2015)


HPO:

33
hermansky-pudlak syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060545
OMIM 58 614076
MeSH 45 D022861
ICD10 via Orphanet 35 E70.3
Orphanet 60 ORPHA231531
MedGen 43 C3279756

Summaries for Hermansky-Pudlak Syndrome 7

UniProtKB/Swiss-Prot : 76 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 1, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome 7 is DTNBP1 (Dystrobrevin Binding Protein 1). The drugs Pirfenidone and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and eye, and related phenotypes are nystagmus and reduced visual acuity

Disease Ontology : 12 A Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.

Description from OMIM: 614076

Related Diseases for Hermansky-Pudlak Syndrome 7

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 7:



Diseases related to Hermansky-Pudlak Syndrome 7

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 7

Human phenotypes related to Hermansky-Pudlak Syndrome 7:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 reduced visual acuity 33 HP:0007663
3 epistaxis 33 HP:0000421
4 bruising susceptibility 33 HP:0000978
5 ocular albinism 33 HP:0001107
6 albinism 33 HP:0001022
7 impaired platelet aggregation 33 HP:0003540

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
ocular albinism
decreased visual acuity

Skin Nails Hair Skin:
pale skin
cutaneous albinism

Abdomen Gastrointestinal:
granulomatous colitis (1 patient)

Hematology:
bleeding tendency due to platelet defect
defective platelet aggregation
lack of dense granules in platelets

Head And Neck Nose:
epistaxis

Respiratory Lung:
decreased lung compliance (1 patient)

Skin Nails Hair Hair:
pale hair

Clinical features from OMIM:

614076

UMLS symptoms related to Hermansky-Pudlak Syndrome 7:


abdominal pain

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 7

Drugs for Hermansky-Pudlak Syndrome 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
2
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
3
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 441411 12560
4
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
5
Angiotensin II Approved, Investigational Phase 1, Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
6
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
7 Peripheral Nervous System Agents Phase 2,Phase 1
8 Anti-Inflammatory Agents Phase 2,Phase 1
9 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
10 Analgesics Phase 2,Phase 1
11 Antirheumatic Agents Phase 2,Phase 1
12 Analgesics, Non-Narcotic Phase 2,Phase 1
13 Protective Agents Phase 1, Phase 2
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
15 Leukotriene Antagonists Phase 1, Phase 2
16 Pharmaceutical Solutions Phase 1, Phase 2
17 Gastrointestinal Agents Phase 1, Phase 2,Phase 2
18 Antihypertensive Agents Phase 1, Phase 2
19 Erythromycin Estolate Phase 1, Phase 2
20 Erythromycin Ethylsuccinate Phase 1, Phase 2
21 Giapreza Phase 1, Phase 2
22 Lipid Regulating Agents Phase 1, Phase 2
23 Lipoxygenase Inhibitors Phase 1, Phase 2
24 Respiratory System Agents Phase 1, Phase 2
25 Anticholesteremic Agents Phase 1, Phase 2
26 Hormone Antagonists Phase 1, Phase 2
27 Hypolipidemic Agents Phase 1, Phase 2
28 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
29 Anti-Arrhythmia Agents Phase 1, Phase 2
30 Antimetabolites Phase 1, Phase 2,Phase 2
31 Free Radical Scavengers Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Angiotensinogen Phase 1, Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Antiviral Agents Phase 1, Phase 2
36 Erythromycin stearate Phase 1, Phase 2
37 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
38 Anti-Bacterial Agents Phase 1, Phase 2
39 Antidotes Phase 1, Phase 2
40 Angiotensin Receptor Antagonists Phase 1, Phase 2
41 Expectorants Phase 1, Phase 2
42 N-monoacetylcystine Phase 1, Phase 2
43 Antioxidants Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
2 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin
3 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
4 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
5 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
6 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
7 Procurement and Analysis of Specimens From Individuals With Pulmonary Fibrosis Recruiting NCT00084305
8 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 7

Genetic Tests for Hermansky-Pudlak Syndrome 7

Genetic tests related to Hermansky-Pudlak Syndrome 7:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 7 30 DTNBP1

Anatomical Context for Hermansky-Pudlak Syndrome 7

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

42
Lung, Skin, Eye

Publications for Hermansky-Pudlak Syndrome 7

Articles related to Hermansky-Pudlak Syndrome 7:

# Title Authors Year
1
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. ( 28259707 )
2017
2
Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life. ( 23364359 )
2013
3
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). ( 12923531 )
2003

Variations for Hermansky-Pudlak Syndrome 7

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DTNBP1 NM_032122.4(DTNBP1): c.307C> T (p.Gln103Ter) single nucleotide variant Pathogenic rs104893945 GRCh37 Chromosome 6, 15627622: 15627622
2 DTNBP1 NM_032122.4(DTNBP1): c.307C> T (p.Gln103Ter) single nucleotide variant Pathogenic rs104893945 GRCh38 Chromosome 6, 15627391: 15627391
3 DTNBP1 NM_032122.4(DTNBP1): c.177G> A (p.Trp59Ter) single nucleotide variant Pathogenic rs727502866 GRCh38 Chromosome 6, 15637789: 15637789
4 DTNBP1 NM_032122.4(DTNBP1): c.177G> A (p.Trp59Ter) single nucleotide variant Pathogenic rs727502866 GRCh37 Chromosome 6, 15638020: 15638020

Expression for Hermansky-Pudlak Syndrome 7

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

Pathways for Hermansky-Pudlak Syndrome 7

GO Terms for Hermansky-Pudlak Syndrome 7

Sources for Hermansky-Pudlak Syndrome 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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