HPS7
MCID: HRM010
MIFTS: 37

Hermansky-Pudlak Syndrome 7 (HPS7)

Categories: Blood 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 56 12 73 29 13 6 15 71
Hps7 56 58 73
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 71
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 73
Hermansky-Pudlak Syndrome, Type 7 39
Platelet Storage Pool Deficiency 71
Hermansky-Pudlak Syndrome Type 7 58
Delta Storage Pool Disease 73

Characteristics:

Orphanet epidemiological data:

58
hermansky-pudlak syndrome type 7
Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
hermansky-pudlak syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0060545
OMIM 56 614076
OMIM Phenotypic Series 56 PS203300
MeSH 43 D022861
ICD10 via Orphanet 33 E70.3
Orphanet 58 ORPHA231531
MedGen 41 C3279756
UMLS 71 C0032197 C2931875 C3279756

Summaries for Hermansky-Pudlak Syndrome 7

UniProtKB/Swiss-Prot : 73 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 Erythromycin 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.

More information from OMIM: 614076 PS203300

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 reduced visual acuity 31 HP:0007663
3 epistaxis 31 HP:0000421
4 bruising susceptibility 31 HP:0000978
5 ocular albinism 31 HP:0001107
6 albinism 31 HP:0001022
7 impaired platelet aggregation 31 HP:0003540

Symptoms via clinical synopsis from OMIM:

56
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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
2
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560 441411
3
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
4
Angiotensin II Approved, Investigational Phase 1, Phase 2 4474-91-3, 11128-99-7, 68521-88-0 172198
5
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
6
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
7 Gastrointestinal Agents Phase 1, Phase 2
8 Erythromycin Estolate Phase 1, Phase 2
9 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
10 Respiratory System Agents Phase 1, Phase 2
11 Angiotensinogen Phase 1, Phase 2
12 Pharmaceutical Solutions Phase 1, Phase 2
13 Erythromycin stearate Phase 1, Phase 2
14 Hormones Phase 1, Phase 2
15 Antihypertensive Agents Phase 1, Phase 2
16 Antioxidants Phase 1, Phase 2
17 Leukotriene Antagonists Phase 1, Phase 2
18 Hormone Antagonists Phase 1, Phase 2
19 Angiotensin Receptor Antagonists Phase 1, Phase 2
20 Anti-Arrhythmia Agents Phase 1, Phase 2
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
22 Lipid Regulating Agents Phase 1, Phase 2
23 Giapreza Phase 1, Phase 2
24 Antidotes Phase 1, Phase 2
25 Erythromycin Ethylsuccinate Phase 1, Phase 2
26 Anti-Infective Agents Phase 1, Phase 2
27 Anti-Bacterial Agents Phase 1, Phase 2
28 Expectorants Phase 1, Phase 2
29 Analgesics, Non-Narcotic Phase 1, Phase 2
30 Anti-Inflammatory Agents Phase 1, Phase 2
31 Antiviral Agents Phase 1, Phase 2
32 Analgesics Phase 1, Phase 2
33 Anticholesteremic Agents Phase 1, Phase 2
34 Protective Agents Phase 1, Phase 2
35 N-monoacetylcystine Phase 1, Phase 2
36 Antirheumatic Agents Phase 1, Phase 2
37 Hypolipidemic Agents Phase 1, Phase 2
38 Antimetabolites Phase 1, Phase 2
39 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Clinical Trial of 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 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456

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 29 DTNBP1

Anatomical Context for Hermansky-Pudlak Syndrome 7

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

40
Lung, Skin, Eye

Publications for Hermansky-Pudlak Syndrome 7

Articles related to Hermansky-Pudlak Syndrome 7:

# Title Authors PMID Year
1
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. 56 6 61
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. 56 6 61
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). 6 56
12923531 2003
4
Hermansky-Pudlak Syndrome 6
20301464 2000
5
Sandy: a new mouse model for platelet storage pool deficiency. 56
1936982 1991
6
Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7. 61
32132582 2020
7
Haemophilus parasuis infection in 3D4/21 cells induces autophagy through the AMPK pathway. 61
30977277 2019
8
Suppression of Photosynthetic Gene Expression in Roots Is Required for Sustained Root Growth under Phosphate Deficiency. 61
24868033 2014
9
An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients. 61
23563589 2013
10
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. 61
15265785 2004

Variations for Hermansky-Pudlak Syndrome 7

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 7:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DTNBP1 NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter)SNV Pathogenic 3432 rs104893945 6:15627622-15627622 6:15627391-15627391
2 DTNBP1 NM_032122.5(DTNBP1):c.177G>A (p.Trp59Ter)SNV Pathogenic 162098 rs727502866 6:15638020-15638020 6:15637789-15637789
3 DTNBP1 NM_032122.4(DTNBP1):c.1015_1016AG[1] (p.Glu340fs)short repeat Conflicting interpretations of pathogenicity 626951 rs752074481 6:15523242-15523245 6:15523011-15523014
4 DTNBP1 NM_001271667.1(DTNBP1):c.772_773AG[2] (p.Glu259fs)short repeat Uncertain significance 434965 rs752074481 6:15523242-15523243 6:15523011-15523012

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

Biological processes related to Hermansky-Pudlak Syndrome 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of protein kinase activity GO:0006469 8.62 DTNBP1 DBNDD1

Sources for Hermansky-Pudlak Syndrome 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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