HPS2
MCID: HRM017
MIFTS: 55

Hermansky-Pudlak Syndrome 2 (HPS2)

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 2

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 2:

Name: Hermansky-Pudlak Syndrome 2 57 12 20 72 29 13 6 15 70
Hps2 57 20 58 72
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 70
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 72
Platelet Defects and Oculocutaneous Albinism 20
Hermansky-Pudlak Syndrome with Neutropenia 58
Hermansky-Pudlak Syndrome, Type 2 39
Platelet Storage Pool Deficiency 70
Hermansky-Pudlak Syndrome Type 2 58
Hermansky Pudlak Syndrome 2 20
Delta Storage Pool Disease 72

Characteristics:

Orphanet epidemiological data:

58
hermansky-pudlak syndrome with neutropenia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
genetic heterogeneity, see


HPO:

31
hermansky-pudlak syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

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


Summaries for Hermansky-Pudlak Syndrome 2

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 183678 Definition Hermansky-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. Epidemiology To date HPS-2 has been described in eight patients. Clinical description HPS-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. Etiology HPS-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 treatment The neutropenia is responsive to granulocyte- cell stimulating factor (G-CSF).

MalaCards based summary : Hermansky-Pudlak Syndrome 2, also known as hps2, is related to hermansky-pudlak syndrome 1 and oculocutaneous albinism, and has symptoms including photophobia and abdominal pain. An important gene associated with Hermansky-Pudlak Syndrome 2 is AP3B1 (Adaptor Related Protein Complex 3 Subunit Beta 1), and among its related pathways/superpathways are Clathrin derived vesicle budding and Lysosome. The drugs Pirfenidone and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include eye, lung and heart, and related phenotypes are coarse facial features and splenomegaly

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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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

Diseases in the Hermansky-Pudlak Syndrome family:

Hermansky-Pudlak Syndrome 1 Hermansky-Pudlak Syndrome 2
Hermansky-Pudlak Syndrome 3 Hermansky-Pudlak Syndrome 4
Hermansky-Pudlak Syndrome 5 Hermansky-Pudlak Syndrome 6
Hermansky-Pudlak Syndrome 7 Hermansky-Pudlak Syndrome 8
Hermansky-Pudlak Syndrome 9 Hermansky-Pudlak Syndrome 10
Hermansky-Pudlak Syndrome 11

Diseases related to Hermansky-Pudlak Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 1 32.2 HPS3 AP3B1
2 oculocutaneous albinism 30.7 HPS3 CD63 AP3B1
3 storage pool platelet disease 30.2 HPS3 CD63 AP3B1
4 chediak-higashi syndrome 29.9 LYST CD63 AP3B1
5 hermansky-pudlak syndrome 28.9 LYST HPS3 CD63 BHLHE22 AP3M1 AP3B1
6 hermansky-pudlak syndrome 3 11.4
7 hermansky-pudlak syndrome 4 11.4
8 hermansky-pudlak syndrome 5 11.4
9 hermansky-pudlak syndrome 6 11.4
10 hermansky-pudlak syndrome 7 11.4
11 hermansky-pudlak syndrome 8 11.4
12 hermansky-pudlak syndrome 9 11.4
13 isolated delta-storage pool disease 11.4
14 hemophagocytic lymphohistiocytosis 10.3
15 von willebrand's disease 10.2
16 blood platelet disease 10.2
17 pneumothorax, primary spontaneous 10.2
18 interstitial pneumonitis, desquamative, familial 10.2
19 retinitis pigmentosa 11 10.2
20 pulmonary hypertension 10.2
21 severe congenital neutropenia 10.2
22 scoliosis 10.2
23 lymphocytic choriomeningitis 10.2
24 pneumothorax 10.2
25 bronchiectasis 10.2
26 pathologic nystagmus 10.2
27 pulmonary fibrosis, idiopathic 10.1
28 autosomal recessive disease 10.1
29 interstitial lung disease 10.1
30 pulmonary fibrosis 10.1
31 lung disease 10.1
32 hereditary spastic paraplegia 51 10.1 AP4M1 AP4E1
33 spastic paraplegia 52, autosomal recessive 10.1 AP4M1 AP4E1
34 spastic paraplegia 50, autosomal recessive 10.1 AP4M1 AP4E1
35 factor viii deficiency 10.1
36 glanzmann thrombasthenia 10.1
37 hemophilia a 10.1
38 menkes disease 10.1
39 ehlers-danlos syndrome 10.1
40 thrombocytopenia 10.1
41 hemophilia 10.1
42 thrombasthenia 10.1
43 shaken baby syndrome 10.1
44 ap-4-associated hereditary spastic paraplegia 10.1 AP4M1 AP4E1
45 spastic paraplegia 47, autosomal recessive 10.0 AP4M1 AP4E1
46 spastic diplegia 10.0 AP4M1 AP4E1
47 lymphoproliferative syndrome, x-linked, 2 10.0 LYST AP3B1
48 quadriplegia 10.0 AP4M1 AP4E1
49 lymphoproliferative syndrome, x-linked, 1 10.0 LYST AP3B1
50 lymphoproliferative syndrome 2 9.9 LYST AP3B1

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

Human phenotypes related to Hermansky-Pudlak Syndrome 2:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 31 very rare (1%) HP:0000280
2 splenomegaly 31 very rare (1%) HP:0001744
3 hepatomegaly 31 very rare (1%) HP:0002240
4 wide nasal bridge 31 very rare (1%) HP:0000431
5 carious teeth 31 very rare (1%) HP:0000670
6 gastroesophageal reflux 31 very rare (1%) HP:0002020
7 photophobia 31 very rare (1%) HP:0000613
8 intellectual disability, mild 31 very rare (1%) HP:0001256
9 low-set ears 31 very rare (1%) HP:0000369
10 recurrent otitis media 31 very rare (1%) HP:0000403
11 epicanthus 31 very rare (1%) HP:0000286
12 thrombocytopenia 31 very rare (1%) HP:0001873
13 motor delay 31 very rare (1%) HP:0001270
14 thin upper lip vermilion 31 very rare (1%) HP:0000219
15 long philtrum 31 very rare (1%) HP:0000343
16 periodontitis 31 very rare (1%) HP:0000704
17 reduced visual acuity 31 very rare (1%) HP:0007663
18 neutropenia 31 very rare (1%) HP:0001875
19 recurrent pneumonia 31 very rare (1%) HP:0006532
20 prolonged bleeding time 31 very rare (1%) HP:0003010
21 mild global developmental delay 31 very rare (1%) HP:0011342
22 posteriorly rotated ears 31 very rare (1%) HP:0000358
23 hepatosplenomegaly 31 very rare (1%) HP:0001433
24 horizontal nystagmus 31 very rare (1%) HP:0000666
25 recurrent bacterial infections 31 very rare (1%) HP:0002718
26 albinism 31 very rare (1%) HP:0001022
27 fair hair 31 very rare (1%) HP:0002286
28 acetabular dysplasia 31 very rare (1%) HP:0008807
29 recurrent abscess formation 31 very rare (1%) HP:0002722
30 impaired adp-induced platelet aggregation 31 very rare (1%) HP:0004866
31 chronic oral candidiasis 31 very rare (1%) HP:0009098
32 reduced natural killer cell count 31 very rare (1%) HP:0040218
33 reduced natural killer cell activity 31 very rare (1%) HP:0012178
34 decreased cd4:cd8 ratio 31 very rare (1%) HP:0033222
35 absent platelet dense granules 31 very rare (1%) HP:0033263
36 enlarged platelet dense granules 31 very rare (1%) HP:0033264
37 microcephaly 31 HP:0000252
38 smooth philtrum 31 HP:0000319
39 strabismus 31 HP:0000486
40 pulmonary fibrosis 31 HP:0002206
41 upslanted palpebral fissure 31 HP:0000582
42 ocular albinism 31 HP:0001107
43 aberrant melanosome maturation 31 HP:0007384

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
photophobia
strabismus
upslanting palpebral fissures
decreased visual acuity
more
Abdomen Spleen:
splenomegaly

Skeletal Pelvis:
hip dysplasia
dysplastic acetabulae

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

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

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

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

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

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

Abdomen Liver:
hepatomegaly

Head And Neck Head:
microcephaly

Hematology:
thrombocytopenia
absence of platelet dense bodies

Skin Nails Hair Hair:
fair hair
aberrant melanosome maturation

Head And Neck Mouth:
thin upper lip

Head And Neck Nose:
broad nasal root

Respiratory Lung:
pulmonary fibrosis due to recurrent infections

Clinical features from OMIM®:

608233 (Updated 05-Apr-2021)

UMLS symptoms related to Hermansky-Pudlak Syndrome 2:


photophobia; abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 AP1S2 AP3B1 AP4E1 BHLHE22 CD63 LYST
2 hearing/vestibular/ear MP:0005377 9.46 AP3B1 AP4E1 BHLHE22 LYST
3 integument MP:0010771 9.43 AP1S2 AP3B1 AP4E1 BHLHE22 HPS3 LYST
4 vision/eye MP:0005391 9.1 AP1S2 AP3B1 AP4E1 BHLHE22 HPS3 LYST

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 2

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

(show all 40)
# 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 12560
4
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
5
Zileuton Approved, Investigational, Withdrawn Phase 1, Phase 2 111406-87-2 60490
6
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
7
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
8 Anti-Arrhythmia Agents Phase 1, Phase 2
9 Erythromycin Estolate Phase 1, Phase 2
10 Respiratory System Agents Phase 1, Phase 2
11 Giapreza Phase 1, Phase 2
12 Hormone Antagonists Phase 1, Phase 2
13 Anticholesteremic Agents Phase 1, Phase 2
14 Gastrointestinal Agents Phase 1, Phase 2
15 Antimetabolites Phase 1, Phase 2
16 Anti-Infective Agents Phase 1, Phase 2
17 Antihypertensive Agents Phase 1, Phase 2
18 Analgesics, Non-Narcotic Phase 1, Phase 2
19 Analgesics Phase 1, Phase 2
20 Erythromycin stearate Phase 1, Phase 2
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
22 Expectorants Phase 1, Phase 2
23 Erythromycin Ethylsuccinate Phase 1, Phase 2
24 Antirheumatic Agents Phase 1, Phase 2
25 Anti-Inflammatory Agents Phase 1, Phase 2
26 Lipid Regulating Agents Phase 1, Phase 2
27 Antidotes Phase 1, Phase 2
28 Antiviral Agents Phase 1, Phase 2
29 Antioxidants Phase 1, Phase 2
30 Leukotriene Antagonists Phase 1, Phase 2
31 Pharmaceutical Solutions Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Anti-Bacterial Agents Phase 1, Phase 2
34 Angiotensinogen Phase 1, Phase 2
35 N-monoacetylcystine Phase 1, Phase 2
36 Angiotensin Receptor Antagonists Phase 1, Phase 2
37 Protective Agents Phase 1, Phase 2
38 Hypolipidemic Agents Phase 1, Phase 2
39 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
40 Angiotensin II Type 1 Receptor Blockers 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

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 2

Genetic Tests for Hermansky-Pudlak Syndrome 2

Genetic tests related to Hermansky-Pudlak Syndrome 2:

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

Anatomical Context for Hermansky-Pudlak Syndrome 2

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

40
Eye, Lung, Heart, Endothelial, Neutrophil

Publications for Hermansky-Pudlak Syndrome 2

Articles related to Hermansky-Pudlak Syndrome 2:

(show top 50) (show all 89)
# Title Authors PMID Year
1
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. 6 57 61
14566336 2003
2
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. 57 6
16537806 2006
3
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. 6 57
16551969 2006
4
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. 57 6
11809908 2002
5
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. 6 57
10024875 1999
6
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? 57 6
8042664 1994
7
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
8
Innate immunity defects in Hermansky-Pudlak type 2 syndrome. 57
16507770 2006
9
Failure of trafficking and antigen presentation by CD1 in AP-3-deficient cells. 57
12049721 2002
10
Multi-organellar disorders of pigmentation: tied up in traffic. 57
10422800 1999
11
A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules. 61
33513603 2021
12
Current landscape of Oculocutaneous Albinism in Japan. 61
32969595 2021
13
Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung. 61
33557836 2021
14
Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2. 61
31820501 2020
15
Investigating modifications to participant information materials to improve recruitment into a large randomized trial. 61
31805983 2019
16
Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells. 61
30630984 2019
17
Serious Adverse Effects of Extended-release Niacin/Laropiprant: Results From the Heart Protection Study 2-Treatment of HDL to Reduce the Incidence of Vascular Events (HPS2-THRIVE) Trial. 61
31447131 2019
18
Different functions of biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes on spermatogenesis and male fertility. 61
30786955 2019
19
In Vitro Disease Modeling of Hermansky-Pudlak Syndrome Type 2 Using Human Induced Pluripotent Stem Cell-Derived Alveolar Organoids. 61
30773483 2019
20
Assessment of Vascular Event Prevention and Cognitive Function Among Older Adults With Preexisting Vascular Disease or Diabetes: A Secondary Analysis of 3 Randomized Clinical Trials. 61
30821829 2019
21
Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes. 61
29190429 2018
22
Nickel(iii)-mediated oxidative cascades from a thiol-bearing nickel(ii) precursor to the nickel(iv) product. 61
29446427 2018
23
Impact of Apolipoprotein(a) Isoform Size on Lipoprotein(a) Lowering in the HPS2-THRIVE Study. 61
29449329 2018
24
Safety assessment of niacin in the US Food and Drug Administration's mini-sentinel system. 61
29108128 2018
25
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. 61
28585318 2017
26
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF DYSLIPIDEMIA AND PREVENTION OF CARDIOVASCULAR DISEASE. 61
28437620 2017
27
TRIGLYCERIDES, ATHEROSCLEROSIS, AND CARDIOVASCULAR OUTCOME STUDIES: FOCUS ON OMEGA-3 FATTY ACIDS. 61
27819772 2017
28
Pleiotropic effects of niacin: Current possibilities for its clinical use. 61
27749252 2016
29
Effects of Vascular and Nonvascular Adverse Events and of Extended-Release Niacin With Laropiprant on Health and Healthcare Costs. 61
27407053 2016
30
Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency. 61
27207797 2016
31
Efficacy of two hydrogen peroxide vapour aerial decontamination systems for enhanced disinfection of meticillin-resistant Staphylococcus aureus, Klebsiella pneumoniae and Clostridium difficile in single isolation rooms. 61
26944907 2016
32
Impaired Lysosomal Integral Membrane Protein 2-dependent Peroxiredoxin 6 Delivery to Lamellar Bodies Accounts for Altered Alveolar Phospholipid Content in Adaptor Protein-3-deficient pearl Mice. 61
26907692 2016
33
Detrimental effects of niacin/laropiprant on microvascular reactivity and red cell deformability in patients with elevated lipoprotein(a) levels. 61
26289089 2016
34
Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs). 61
27345985 2016
35
Niacin Alternatives for Dyslipidemia: Fool's Gold or Gold Mine? Part I: Alternative Niacin Regimens. 61
26876225 2016
36
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. 61
26744459 2016
37
Innovative pharmaceutical interventions in cardiovascular disease: Focusing on the contribution of non-HDL-C/LDL-C-lowering versus HDL-C-raising: A systematic review and meta-analysis of relevant preclinical studies and clinical trials. 61
25989133 2015
38
Placing HPS2-THRIVE in context using Bayesian analysis. 61
26048375 2015
39
Niacin Therapy, HDL Cholesterol, and Cardiovascular Disease: Is the HDL Hypothesis Defunct? 61
26048725 2015
40
Niacin in the Treatment of Hyperlipidemias in Light of New Clinical Trials: Has Niacin Lost its Place? 61
26210594 2015
41
Is HPS2-THRIVE the death knell for niacin? 61
26073392 2015
42
Safety and tolerability of extended-release niacin-laropiprant: Pooled analyses for 11,310 patients in 12 controlled clinical trials. 61
26073389 2015
43
Revising the high-density lipoprotein targeting strategies - insights from human and preclinical studies. 61
25115413 2014
44
Dyslipidaemia: cardiovascular prevention--end of the road for niacin? 61
25178730 2014
45
Effects of extended-release niacin with laropiprant in high-risk patients. 61
25014686 2014
46
Should low high-density lipoprotein cholesterol (HDL-C) be treated? 61
24840264 2014
47
HDL hypothesis: where do we stand now? 61
24619460 2014
48
Grainyhead-like 2 (GRHL2) distribution reveals novel pathophysiological differences between human idiopathic pulmonary fibrosis and mouse models of pulmonary fibrosis. 61
24375798 2014
49
HPS2-THRIVE, AIM-HIGH and dal-OUTCOMES: HDL-cholesterol under attack. 61
25763374 2014
50
Niacin: a long history, but a questionable future. 61
24184940 2013

Variations for Hermansky-Pudlak Syndrome 2

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 2:

6 (show top 50) (show all 224)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AP3B1 NM_003664.4(AP3B1):c.1739T>G (p.Leu580Arg) SNV Pathogenic 6372 rs121908904 GRCh37: 5:77425043-77425043
GRCh38: 5:78129219-78129219
2 AP3B1 AP3B1, 1-BP INS, 1618G Insertion Pathogenic 6373 GRCh37:
GRCh38:
3 AP3B1 AP3B1, IVS14DS, T-C, +6 SNV Pathogenic 6374 GRCh37:
GRCh38:
4 AP3B1 NM_003664.4(AP3B1):c.1474-7072_1650+921del Deletion Pathogenic 6375 GRCh37: 5:77436046-77444215
GRCh38: 5:78140222-78148391
5 AP3B1 NM_003664.4(AP3B1):c.904A>T (p.Arg302Ter) SNV Pathogenic 6376 rs121908905 GRCh37: 5:77477369-77477369
GRCh38: 5:78181545-78181545
6 AP3B1 NM_003664.4(AP3B1):c.1975G>T (p.Glu659Ter) SNV Pathogenic 6378 rs121908907 GRCh37: 5:77412052-77412052
GRCh38: 5:78116228-78116228
7 AP3B1 NM_003664.4(AP3B1):c.2702C>G (p.Ser901Cys) SNV Pathogenic 224760 rs869312835 GRCh37: 5:77334974-77334974
GRCh38: 5:78039150-78039150
8 AP3B1 NM_003664.4(AP3B1):c.177del (p.Lys59fs) Deletion Pathogenic 224763 rs869312838 GRCh37: 5:77563371-77563371
GRCh38: 5:78267547-78267547
9 AP3B1 NM_003664.4(AP3B1):c.1754del (p.Val585fs) Deletion Pathogenic 224761 rs869312836 GRCh37: 5:77425028-77425028
GRCh38: 5:78129204-78129204
10 AP3B1 NM_003664.4(AP3B1):c.1839_1842delTAGA Microsatellite Pathogenic 224764 GRCh37: 5:77423980-77423983
GRCh38: 5:78128156-78128159
11 AP3B1 NM_003664.4(AP3B1):c.716G>A (p.Trp239Ter) SNV Pathogenic 224762 rs869312837 GRCh37: 5:77511949-77511949
GRCh38: 5:78216125-78216125
12 AP3B1 NC_000005.10:g.(?_78089373)_(78141339_?)del Deletion Pathogenic 833024 GRCh37: 5:77385197-77437163
GRCh38:
13 AP3B1 NM_003664.5(AP3B1):c.1168_1230del (p.Leu390_Gln410del) Deletion Pathogenic 6371 rs1554072100 GRCh37:
GRCh38:
14 AP3B1 NM_003664.4(AP3B1):c.1525C>T (p.Arg509Ter) SNV Pathogenic 6377 rs121908906 GRCh37: 5:77437092-77437092
GRCh38: 5:78141268-78141268
15 AP3B1 NM_003664.5(AP3B1):c.3283T>A (p.Ter1095Lys) SNV Pathogenic 1032146 GRCh37: 5:77298728-77298728
GRCh38: 5:78002904-78002904
16 AP3B1 NM_003664.5(AP3B1):c.779G>A (p.Trp260Ter) SNV Pathogenic 856193 GRCh37: 5:77511886-77511886
GRCh38: 5:78216062-78216062
17 AP3B1 NM_003664.5(AP3B1):c.3131+1G>A SNV Pathogenic 997589 GRCh37: 5:77311233-77311233
GRCh38: 5:78015409-78015409
18 HPS3 NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) SNV Likely pathogenic 812964 rs200079039 GRCh37: 3:148876631-148876631
GRCh38: 3:149158844-149158844
19 AP3B1 NM_003664.4(AP3B1):c.1069A>G (p.Ile357Val) SNV Conflicting interpretations of pathogenicity 354243 rs142025324 GRCh37: 5:77471634-77471634
GRCh38: 5:78175810-78175810
20 AP3B1 NM_003664.4(AP3B1):c.2915A>G (p.Asn972Ser) SNV Conflicting interpretations of pathogenicity 464884 rs139968311 GRCh37: 5:77316593-77316593
GRCh38: 5:78020769-78020769
21 AP3B1 NM_003664.4(AP3B1):c.2310C>T (p.Asp770=) SNV Conflicting interpretations of pathogenicity 464883 rs142938290 GRCh37: 5:77406118-77406118
GRCh38: 5:78110294-78110294
22 AP3B1 NM_003664.4(AP3B1):c.3207G>A (p.Gln1069=) SNV Conflicting interpretations of pathogenicity 354220 rs34089426 GRCh37: 5:77298804-77298804
GRCh38: 5:78002980-78002980
23 AP3B1 NM_003664.4(AP3B1):c.2340C>T (p.Ser780=) SNV Conflicting interpretations of pathogenicity 354229 rs199599147 GRCh37: 5:77406088-77406088
GRCh38: 5:78110264-78110264
24 AP3B1 NM_003664.4(AP3B1):c.1421C>T (p.Ala474Val) SNV Conflicting interpretations of pathogenicity 658640 rs191850940 GRCh37: 5:77452134-77452134
GRCh38: 5:78156310-78156310
25 AP3B1 NM_003664.4(AP3B1):c.303C>T (p.Tyr101=) SNV Conflicting interpretations of pathogenicity 354252 rs115747826 GRCh37: 5:77524040-77524040
GRCh38: 5:78228216-78228216
26 AP3B1 NM_003664.4(AP3B1):c.822C>T (p.Tyr274=) SNV Conflicting interpretations of pathogenicity 354246 rs112652327 GRCh37: 5:77477451-77477451
GRCh38: 5:78181627-78181627
27 AP3B1 NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) SNV Conflicting interpretations of pathogenicity 730085 rs376978572 GRCh37: 5:77425078-77425078
GRCh38: 5:78129254-78129254
28 AP3B1 NM_003664.4(AP3B1):c.2345C>T (p.Ser782Phe) SNV Conflicting interpretations of pathogenicity 354228 rs143589037 GRCh37: 5:77406083-77406083
GRCh38: 5:78110259-78110259
29 AP3B1 NM_003664.4(AP3B1):c.1168-9C>T SNV Conflicting interpretations of pathogenicity 354241 rs367648410 GRCh37: 5:77461505-77461505
GRCh38: 5:78165681-78165681
30 AP3B1 NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) SNV Conflicting interpretations of pathogenicity 797321 rs201238945 GRCh37: 5:77425033-77425033
GRCh38: 5:78129209-78129209
31 AP3B1 NM_003664.4(AP3B1):c.2042A>G (p.Glu681Gly) SNV Conflicting interpretations of pathogenicity 235303 rs113301033 GRCh37: 5:77411985-77411985
GRCh38: 5:78116161-78116161
32 AP3B1 NM_003664.5(AP3B1):c.537-7T>A SNV Uncertain significance 904244 GRCh37: 5:77521439-77521439
GRCh38: 5:78225615-78225615
33 AP3B1 NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys) SNV Uncertain significance 904245 GRCh37: 5:77524018-77524018
GRCh38: 5:78228194-78228194
34 AP3B1 NM_003664.5(AP3B1):c.*482C>T SNV Uncertain significance 904842 GRCh37: 5:77298244-77298244
GRCh38: 5:78002420-78002420
35 AP3B1 NM_003664.5(AP3B1):c.*380G>C SNV Uncertain significance 904843 GRCh37: 5:77298346-77298346
GRCh38: 5:78002522-78002522
36 AP3B1 NM_003664.5(AP3B1):c.*380G>A SNV Uncertain significance 904844 GRCh37: 5:77298346-77298346
GRCh38: 5:78002522-78002522
37 AP3B1 NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn) SNV Uncertain significance 904909 GRCh37: 5:77406087-77406087
GRCh38: 5:78110263-78110263
38 AP3B1 NM_003664.5(AP3B1):c.1281T>C (p.Thr427=) SNV Uncertain significance 904972 GRCh37: 5:77458725-77458725
GRCh38: 5:78162901-78162901
39 AP3B1 NM_003664.5(AP3B1):c.1190C>T (p.Ala397Val) SNV Uncertain significance 904973 GRCh37: 5:77461474-77461474
GRCh38: 5:78165650-78165650
40 AP3B1 NM_003664.5(AP3B1):c.-83G>C SNV Uncertain significance 905030 GRCh37: 5:77590486-77590486
GRCh38: 5:78294662-78294662
41 AP3B1 NC_000005.10:g.78294705G>C SNV Uncertain significance 905031 GRCh37: 5:77590529-77590529
GRCh38: 5:78294705-78294705
42 AP3B1 NM_003664.5(AP3B1):c.*191C>G SNV Uncertain significance 906458 GRCh37: 5:77298535-77298535
GRCh38: 5:78002711-78002711
43 AP3B1 NC_000005.10:g.(?_78020672)_(78089519_?)del Deletion Uncertain significance 832112 GRCh37: 5:77316496-77385343
GRCh38:
44 AP3B1 NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile) SNV Uncertain significance 906556 GRCh37: 5:77471488-77471488
GRCh38: 5:78175664-78175664
45 AP3B1 NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala) SNV Uncertain significance 906557 GRCh37: 5:77471628-77471628
GRCh38: 5:78175804-78175804
46 AP3B1 NM_003664.5(AP3B1):c.1890T>C (p.Ala630=) SNV Uncertain significance 764149 rs774196917 GRCh37: 5:77423932-77423932
GRCh38: 5:78128108-78128108
47 AP3B1 NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu) SNV Uncertain significance 907513 GRCh37: 5:77423977-77423977
GRCh38: 5:78128153-78128153
48 AP3B1 NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn) SNV Uncertain significance 907514 GRCh37: 5:77424946-77424946
GRCh38: 5:78129122-78129122
49 AP3B1 NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys) SNV Uncertain significance 907572 GRCh37: 5:77477368-77477368
GRCh38: 5:78181544-78181544
50 AP3B1 NM_003664.5(AP3B1):c.786+6T>A SNV Uncertain significance 907573 GRCh37: 5:77511873-77511873
GRCh38: 5:78216049-78216049

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

72
# Symbol AA change Variation ID SNP ID
1 AP3B1 p.Leu580Arg VAR_011596 rs121908904

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.64 AP4M1 AP4E1 AP3B1 AP1S2
2 11.21 CD63 AP4M1 AP4E1 AP3M1 AP3B1 AP1S2

GO Terms for Hermansky-Pudlak Syndrome 2

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

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.85 TEPSIN AP4M1 AP4E1 AP3M1 AP3B1 AP1S2
2 cytoplasmic vesicle GO:0031410 9.83 TEPSIN AP4M1 AP3M1 AP3B1 AP1S2
3 intracellular membrane-bounded organelle GO:0043231 9.78 CD63 AP4M1 AP3M1 AP1S2
4 lysosomal membrane GO:0005765 9.71 CD63 AP3M1 AP3B1 AP1S2
5 membrane coat GO:0030117 9.5 AP4E1 AP3B1 AP1S2
6 axon cytoplasm GO:1904115 9.46 AP3M1 AP3B1
7 trans-Golgi network membrane GO:0032588 9.46 TEPSIN AP4M1 AP4E1 AP1S2
8 endosome lumen GO:0031904 9.43 CD63 AP4M1 AP4E1
9 clathrin adaptor complex GO:0030131 9.13 AP4M1 AP3M1 AP3B1
10 AP-4 adaptor complex GO:0030124 8.8 TEPSIN AP4M1 AP4E1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.72 AP4M1 AP4E1 AP3M1 AP3B1 AP1S2
2 vesicle-mediated transport GO:0016192 9.55 AP4M1 AP4E1 AP3M1 AP3B1 AP1S2
3 protein localization GO:0008104 9.54 LYST AP4M1 AP4E1
4 protein transport GO:0015031 9.5 LYST CD63 AP4M1 AP4E1 AP3M1 AP3B1
5 lysosome organization GO:0007040 9.49 LYST AP3B1
6 protein targeting GO:0006605 9.48 AP4M1 AP4E1
7 anterograde axonal transport GO:0008089 9.46 AP3M1 AP3B1
8 melanosome organization GO:0032438 9.43 LYST AP3B1
9 protein targeting to lysosome GO:0006622 9.43 AP4M1 AP3M1 AP3B1
10 anterograde synaptic vesicle transport GO:0048490 9.4 AP3M1 AP3B1
11 pigmentation GO:0043473 8.92 LYST HPS3 CD63 AP3B1

Sources for Hermansky-Pudlak Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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