MCID: HRM017
MIFTS: 42

Hermansky-Pudlak Syndrome 2

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 2

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 2:

Name: Hermansky-Pudlak Syndrome 2 54 12 50 24 71 13 14 69
Hps2 50 24 56 71
Hermansky Pudlak Syndrome 2 50 29
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 69
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 71
Platelet Defects and Oculocutaneous Albinism 50
Hermansky-Pudlak Syndrome with Neutropenia 56
Platelet Storage Pool Deficiency 69
Hermansky-Pudlak Syndrome Type 2 56
Delta Storage Pool Disease 71
Hps 2 24
Hps-2 24

Characteristics:

Orphanet epidemiological data:

56
hermansky-pudlak syndrome with neutropenia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
genetic heterogeneity, see


HPO:

32
hermansky-pudlak syndrome 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hermansky-Pudlak Syndrome 2

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 183678disease definitionhermansky-pudlak syndrome type 2 (hps-2) is a type of hermansky-pudlak syndrome (hps; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.epidemiologyto date hps-2 has been described in eight patients.clinical descriptionhps-2 presents with features of hps including oculocutaneous albinisim, reduced visual acuity, horizontal nystagmus, easy bruising of soft tissues, epistaxis, and prolonged bleeding after dental extraction, surgery or childbirth. women may present with medically significant menstrual bleeding. in addition, hps-2 patients present with recurrent infections due to neutropenia and impaired cytotoxic activity. recently, pulmonary fibrosis has been described in some hps-2 cases.etiologyhps-2 is caused by mutations in the ap3b1 gene (5q14.1) and is transmitted in an autosomal recessive manner. the gene product is the beta 3a subunit of adaptor protein 3 (ap3), involved in vesicle formation and protein sorting.management and treatmentthe neutropenia is responsive to granulocyte-cell stimulating factor (g-csf).visit the orphanet disease page for more resources. last updated: 3/30/2010

MalaCards based summary : Hermansky-Pudlak Syndrome 2, also known as hps2, is related to isolated delta-storage pool disease and hermansky-pudlak syndrome, and has symptoms including visual impairment, nystagmus and neutropenia. An important gene associated with Hermansky-Pudlak Syndrome 2 is AP3B1 (Adaptor Related Protein Complex 3 Beta 1 Subunit), and among its related pathways/superpathways is Lysosome. The drugs Ezetimibe and Nicotine have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and neutrophil, and related phenotype is Decreased viability after Maraba virus infection.

Disease Ontology : 12 A Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.

OMIM : 54
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by platelet defects and oculocutaneous albinism. HPS2 differs from the other forms of HPS in that it includes immunodeficiency, and patients with HPS2 have an increased susceptibility to infections due to congenital neutropenia (Jung et al., 2006). (608233)

UniProtKB/Swiss-Prot : 71 Hermansky-Pudlak syndrome 2: 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. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections.

Related Diseases for Hermansky-Pudlak Syndrome 2

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 2:



Diseases related to Hermansky-Pudlak Syndrome 2

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
nystagmus
strabismus
decreased visual acuity
photophobia
upslanting palpebral fissures
more
Abdomen- Liver:
hepatomegaly

Head And Neck- Head:
microcephaly

Hematology:
thrombocytopenia
absence of platelet dense bodies

Head And Neck- Face:
coarse facial features
protruding midface
long, flat philtrum

Neurologic- Central Nervous System:
mental retardation, mild
motor retardation, mild

Skin Nails & Hair- Skin:
fair skin
cutaneous albinism, tyrosinase-positive
aberrant melanosome maturation

Respiratory- Lung:
pulmonary fibrosis due to recurrent infections

Immunology:
neutropenia
recurrent bacterial infections
neutrophils show disorganized lysosomal compartments on ultrastructural analysis
decreased numbers of natural killer cells (nk)

Abdomen- Spleen:
splenomegaly

Head And Neck- Ears:
low-set ears
posteriorly rotated ears

Head And Neck- Nose:
broad nasal root

Head And Neck- Mouth:
thin upper lip

Skeletal- Pelvis:
dysplastic acetabulae
hip dysplasia

Head And Neck- Teeth:
dental decay due to recurrent bacterial periodontitis

Skin Nails & Hair- Hair:
aberrant melanosome maturation
fair hair


Clinical features from OMIM:

608233

Human phenotypes related to Hermansky-Pudlak Syndrome 2:

32 (show all 30)
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 nystagmus 32 HP:0000639
3 neutropenia 32 HP:0001875
4 strabismus 32 HP:0000486
5 hepatomegaly 32 HP:0002240
6 splenomegaly 32 HP:0001744
7 microcephaly 32 HP:0000252
8 low-set ears 32 HP:0000369
9 thrombocytopenia 32 HP:0001873
10 coarse facial features 32 HP:0000280
11 reduced visual acuity 32 HP:0007663
12 posteriorly rotated ears 32 HP:0000358
13 photophobia 32 HP:0000613
14 long philtrum 32 HP:0000343
15 intellectual disability, mild 32 HP:0001256
16 wide nasal bridge 32 HP:0000431
17 motor delay 32 HP:0001270
18 recurrent bacterial infections 32 HP:0002718
19 smooth philtrum 32 HP:0000319
20 pulmonary fibrosis 32 HP:0002206
21 hip dysplasia 32 HP:0001385
22 aberrant melanosome maturation 32 HP:0007384
23 fair hair 32 HP:0002286
24 ocular albinism 32 HP:0001107
25 thin upper lip vermilion 32 HP:0000219
26 periodontitis 32 HP:0000704
27 acetabular dysplasia 32 HP:0008807
28 carious teeth 32 HP:0000670
29 albinism 32 HP:0001022
30 upslanted palpebral fissure 32 HP:0000582

UMLS symptoms related to Hermansky-Pudlak Syndrome 2:


photophobia, abdominal pain

GenomeRNAi Phenotypes related to Hermansky-Pudlak Syndrome 2 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Maraba virus infection GR00252-A-1 9.35 WDTC1
2 Decreased viability after Maraba virus infection GR00252-A-2 9.35 LAMP1 WDTC1
3 Decreased viability after Maraba virus infection GR00252-A-3 9.35 LAMP1 WDTC1
4 FOXO1 nuclear localization GR00247-A-1 8.8 LAMP1 WDTC1
5 FOXO1 nuclear localization GR00247-A-2 8.8 WDTC1

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 2

Drugs for Hermansky-Pudlak Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 57)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 3 163222-33-1 150311
2
Nicotine Approved Phase 3 54-11-5 942 89594
3
Simvastatin Approved Phase 3 79902-63-9 54454
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
5
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
6
Nicotinamide Approved, Nutraceutical Phase 3 98-92-0 936
7 Anticholesteremic Agents Phase 3,Phase 1,Phase 2
8 Antimetabolites Phase 3,Phase 1,Phase 2
9 Ezetimibe, Simvastatin Drug Combination Phase 3
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3,Phase 1,Phase 2
11 Hypolipidemic Agents Phase 3,Phase 1,Phase 2
12 Lipid Regulating Agents Phase 3,Phase 1,Phase 2
13 Micronutrients Phase 3
14 Nicotinic Acids Phase 3
15 Trace Elements Phase 3
16 Vasodilator Agents Phase 3
17 Vitamin B Complex Phase 3
18 Vitamins Phase 3
19 Folate Nutraceutical Phase 3
20 Vitamin B3 Nutraceutical Phase 3
21 Vitamin B9 Nutraceutical Phase 3
22
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
23
Erythromycin Approved, Vet_approved Phase 1, Phase 2 114-07-8 12560
24
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
25
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
26
Pirfenidone Investigational Phase 2 53179-13-8 40632
27
Angiotensin II Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
28 Analgesics Phase 2,Phase 1
29 Analgesics, Non-Narcotic Phase 2,Phase 1
30 Anti-Inflammatory Agents Phase 2,Phase 1
31 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
32 Antirheumatic Agents Phase 2,Phase 1
33 Peripheral Nervous System Agents Phase 2,Phase 1
34 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
35 Angiotensin Receptor Antagonists Phase 1, Phase 2
36 Angiotensinogen Phase 1, Phase 2
37 Anti-Arrhythmia Agents Phase 1, Phase 2
38 Anti-Bacterial Agents Phase 1, Phase 2
39 Antidotes Phase 1, Phase 2
40 Antihypertensive Agents Phase 1, Phase 2
41 Anti-Infective Agents Phase 1, Phase 2
42 Antioxidants Phase 1, Phase 2
43 Antiviral Agents Phase 1, Phase 2
44 Erythromycin Estolate Phase 1, Phase 2
45 Erythromycin Ethylsuccinate Phase 1, Phase 2
46 Erythromycin stearate Phase 1, Phase 2
47 Expectorants Phase 1, Phase 2
48 Gastrointestinal Agents Phase 1, Phase 2
49 Hormone Antagonists Phase 1, Phase 2
50 Hormones Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Treatment of HDL to Reduce the Incidence of Vascular Events HPS2-THRIVE Completed NCT00461630 Phase 3 ER niacin/laropiprant;simvastatin;ezetimibe/simvastatin
2 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Active, not recruiting NCT00001596 Phase 2 Pirfenidone;Placebo
3 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
4 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
5 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 2

Genetic Tests for Hermansky-Pudlak Syndrome 2

Genetic tests related to Hermansky-Pudlak Syndrome 2:

id Genetic test Affiliating Genes
1 Hermansky Pudlak Syndrome 2 29
2 Hermansky-Pudlak Syndrome 2 24 AP3B1

Anatomical Context for Hermansky-Pudlak Syndrome 2

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 2:

39
Lung, Skin, Neutrophil, Eye

Publications for Hermansky-Pudlak Syndrome 2

Variations for Hermansky-Pudlak Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Hermansky-Pudlak Syndrome 2:

71
id Symbol AA change Variation ID SNP ID
1 AP3B1 p.Leu580Arg VAR_011596 rs121908904

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 2:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 AP3B1 NM_003664.4(AP3B1): c.1168_1230del63 (p.Leu390_Gln410del) deletion Pathogenic GRCh38 Chromosome 5, 78165610: 78165672
2 AP3B1 NM_003664.4(AP3B1): c.1739T> G (p.Leu580Arg) single nucleotide variant Pathogenic rs121908904 GRCh37 Chromosome 5, 77425043: 77425043
3 AP3B1 AP3B1, 1-BP INS, 1618G insertion Pathogenic
4 AP3B1 AP3B1, IVS14DS, T-C, +6 single nucleotide variant Pathogenic
5 AP3B1 NM_003664.4(AP3B1): c.1474-7072_1650+921del deletion Pathogenic GRCh37 Chromosome 5, 77436046: 77444215
6 AP3B1 NM_003664.4(AP3B1): c.904A> T (p.Arg302Ter) single nucleotide variant Pathogenic rs121908905 GRCh37 Chromosome 5, 77477369: 77477369
7 AP3B1 NM_003664.4(AP3B1): c.1525C> T (p.Arg509Ter) single nucleotide variant Pathogenic rs121908906 GRCh37 Chromosome 5, 77437092: 77437092
8 AP3B1 NM_003664.4(AP3B1): c.1975G> T (p.Glu659Ter) single nucleotide variant Pathogenic rs121908907 GRCh37 Chromosome 5, 77412052: 77412052
9 AP3B1 NM_003664.4(AP3B1): c.2702C> G (p.Ser901Cys) single nucleotide variant Pathogenic rs869312835 GRCh37 Chromosome 5, 77334974: 77334974
10 AP3B1 NM_003664.4(AP3B1): c.1839_1842delTAGA (p.Asp613Glufs) deletion Pathogenic rs869312839 GRCh37 Chromosome 5, 77423980: 77423983
11 AP3B1 NM_003664.4(AP3B1): c.1754delT (p.Val585Glufs) deletion Pathogenic rs869312836 GRCh37 Chromosome 5, 77425028: 77425028
12 AP3B1 NM_003664.4(AP3B1): c.716G> A (p.Trp239Ter) single nucleotide variant Pathogenic rs869312837 GRCh37 Chromosome 5, 77511949: 77511949
13 AP3B1 NM_003664.4(AP3B1): c.177delA (p.Lys59Asnfs) deletion Pathogenic rs869312838 GRCh37 Chromosome 5, 77563371: 77563371

Expression for Hermansky-Pudlak Syndrome 2

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 2.

Pathways for Hermansky-Pudlak Syndrome 2

Pathways related to Hermansky-Pudlak Syndrome 2 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.71 AP3B1 LAMP1

GO Terms for Hermansky-Pudlak Syndrome 2

Cellular components related to Hermansky-Pudlak Syndrome 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 8.96 AP3B1 LAMP1
2 lysosomal membrane GO:0005765 8.62 AP3B1 LAMP1

Sources for Hermansky-Pudlak Syndrome 2

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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