MCID: HRM010
MIFTS: 29

Hermansky-Pudlak Syndrome 7

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 7

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 7:

Name: Hermansky-Pudlak Syndrome 7 53 12 71 28 13 14 69
Hps7 53 55 71
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 69
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 71
Platelet Storage Pool Deficiency 69
Hermansky-Pudlak Syndrome Type 7 55
Delta Storage Pool Disease 71

Characteristics:

Orphanet epidemiological data:

55
hermansky-pudlak syndrome type 7
Prevalence: <1/1000000 (Worldwide);

OMIM:

53
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:



Summaries for Hermansky-Pudlak Syndrome 7

UniProtKB/Swiss-Prot : 71 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 nystagmus, visual impairment and reduced visual acuity. An important gene associated with Hermansky-Pudlak Syndrome 7 is DTNBP1 (Dystrobrevin Binding Protein 1). Affiliated tissues include lung, skin and eye.

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
nystagmus
ocular albinism
decreased visual acuity

Skin Nails Hair Skin:
pale skin
cutaneous albinism

Abdomen Gastroin testinal:
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

Human phenotypes related to Hermansky-Pudlak Syndrome 7:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 visual impairment 31 HP:0000505
3 reduced visual acuity 31 HP:0007663
4 epistaxis 31 HP:0000421
5 bruising susceptibility 31 HP:0000978
6 ocular albinism 31 HP:0001107
7 albinism 31 HP:0001022
8 impaired platelet aggregation 31 HP:0003540

UMLS symptoms related to Hermansky-Pudlak Syndrome 7:


abdominal pain

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 7

Search Clinical Trials , 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 28 DTNBP1

Anatomical Context for Hermansky-Pudlak Syndrome 7

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

38
Lung, Skin, Eye

Publications for Hermansky-Pudlak Syndrome 7

Articles related to Hermansky-Pudlak Syndrome 7:

# Title Authors Year
1
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
2
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.177G> A (p.Trp59Ter) single nucleotide variant Pathogenic rs727502866 GRCh38 Chromosome 6, 15637789: 15637789
2 DTNBP1 NM_032122.4(DTNBP1): c.307C> T (p.Gln103Ter) single nucleotide variant Pathogenic rs104893945 GRCh37 Chromosome 6, 15627622: 15627622

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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