MCID: HRM010
MIFTS: 28

Hermansky-Pudlak Syndrome 7

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 7

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 7:

Name: Hermansky-Pudlak Syndrome 7 54 12 24 71 29 13 14 69
Hps7 24 56 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 56
Delta Storage Pool Disease 71
Hps 7 24

Characteristics:

Orphanet epidemiological data:

56
hermansky-pudlak syndrome type 7
Prevalence: <1/1000000 (Worldwide);

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
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 2, and has symptoms including visual impairment, nystagmus 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

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 7

Symptoms via clinical synopsis from OMIM:

54

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

Respiratory- Lung:
decreased lung compliance (1 patient)

Skin Nails & Hair- Skin:
pale skin
cutaneous albinism

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

Head And Neck- Nose:
epistaxis

Abdomen- Gastroin testinal:
granulomatous colitis (1 patient)

Skin Nails & Hair- Hair:
pale hair


Clinical features from OMIM:

614076

Human phenotypes related to Hermansky-Pudlak Syndrome 7:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 nystagmus 32 HP:0000639
3 reduced visual acuity 32 HP:0007663
4 epistaxis 32 HP:0000421
5 impaired platelet aggregation 32 HP:0003540
6 ocular albinism 32 HP:0001107
7 albinism 32 HP:0001022
8 bruising susceptibility 32 HP:0000978

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:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 7 29 24 DTNBP1

Anatomical Context for Hermansky-Pudlak Syndrome 7

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

39
Lung, Skin, Eye

Publications for Hermansky-Pudlak Syndrome 7

Variations for Hermansky-Pudlak Syndrome 7

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 7:

6
id 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.177G> A (p.Trp59Ter) single nucleotide variant Pathogenic rs727502866 GRCh38 Chromosome 6, 15637789: 15637789

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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