HPS5
MCID: HRM008
MIFTS: 52

Hermansky-Pudlak Syndrome 5 (HPS5)

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 5

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 5:

Name: Hermansky-Pudlak Syndrome 5 58 12 76 30 13 6 15 74
Hps5 58 76
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 74
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 76
Hermansky-Pudlak Syndrome, Type 5 41
Platelet Storage Pool Deficiency 74
Delta Storage Pool Disease 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
patients do not exhibit granulomatous colitis or pulmonary fibrosis


HPO:

33
hermansky-pudlak syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hermansky-Pudlak Syndrome 5

OMIM : 58 Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients (Ringeisen et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (203300). (614074)

MalaCards based summary : Hermansky-Pudlak Syndrome 5, also known as hps5, is related to hermansky-pudlak syndrome 6 and hermansky-pudlak syndrome 3, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome 5 is HPS5 (HPS5 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2), and among its related pathways/superpathways are Development_Leptin signaling via PI3K-dependent pathway and Signaling events mediated by PTP1B. The drugs Pirfenidone and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and eye, and related phenotypes are strabismus and reduced visual acuity

Disease Ontology : 12 A Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the HPS5 gene on chromosome 11p14.

UniProtKB/Swiss-Prot : 76 Hermansky-Pudlak syndrome 5: 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.

Related Diseases for Hermansky-Pudlak Syndrome 5

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

Diseases related to Hermansky-Pudlak Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 6 32.6 HPS5 HPS6
2 hermansky-pudlak syndrome 3 32.4 HPS5 HPS6
3 albinism, oculocutaneous, type ii 32.0 HPS5 HPS6
4 hermansky-pudlak syndrome without pulmonary fibrosis 32.0 HPS5 HPS6
5 isolated delta-storage pool disease 12.5
6 hermansky-pudlak syndrome 1 11.6
7 oculocutaneous albinism 11.6
8 hermansky-pudlak syndrome 2 11.5
9 hermansky-pudlak syndrome 4 11.5
10 hermansky-pudlak syndrome 7 11.5
11 hermansky-pudlak syndrome 8 11.5
12 hermansky-pudlak syndrome 9 11.5
13 pulmonary fibrosis 11.4
14 hermansky-pudlak syndrome 10.5
15 colitis 10.3
16 albinism 10.1
17 ehlers-danlos syndrome 10.0
18 lipoblastoma 10.0 LEP LEPR
19 pathologic nystagmus 9.9 HPS5 HPS6
20 coenurosis 9.9 LDHA LDHC
21 phototoxic dermatitis 9.9 LDHA LDHC
22 non-gestational choriocarcinoma 9.9 LDHA LDHC
23 korean hemorrhagic fever 9.9 LDHA LDHC
24 dressler's syndrome 9.8 LDHA LDHC
25 breast abscess 9.8 LDHA LDHC
26 severe pre-eclampsia 9.8 LEP LEPR
27 acquired metabolic disease 9.7 BACE1 LEP LEPR

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 5:



Diseases related to Hermansky-Pudlak Syndrome 5

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 5

Human phenotypes related to Hermansky-Pudlak Syndrome 5:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 strabismus 33 HP:0000486
2 reduced visual acuity 33 HP:0007663
3 thrombocytopenia 33 HP:0001873
4 bruising susceptibility 33 HP:0000978
5 prolonged bleeding time 33 HP:0003010
6 horizontal nystagmus 33 HP:0000666
7 ocular albinism 33 HP:0001107
8 hypoplasia of the fovea 33 HP:0007750
9 albinism 33 HP:0001022

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
strabismus
reduced visual acuity
horizontal nystagmus
ocular albinism
foveal hypoplasia
more
Genitourinary Internal Genitalia Female:
menorrhagia

Hematology:
bleeding tendency
absence of platelet dense bodies
reduced platelet count, moderate
prolonged bleeding time, moderate

Laboratory Abnormalities:
elevated cholesterol (in some patients)
elevated triglycerides (in some patients)

Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
easy bruising
fair skin relative to unaffected family members

Skin Nails Hair Hair:
fair hair relative to unaffected family members

Clinical features from OMIM:

614074

UMLS symptoms related to Hermansky-Pudlak Syndrome 5:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 5:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 BACE1 HPS5 HPS6 LDHA LEP LEPR
2 hematopoietic system MP:0005397 9.95 HPS5 HPS6 LDHA LEP LEPR RAB38
3 integument MP:0010771 9.87 BACE1 HPS5 HPS6 LEP LEPR RAB38
4 no phenotypic analysis MP:0003012 9.65 BACE1 HPS5 LDHC LEPR RAB38
5 pigmentation MP:0001186 9.55 HPS5 HPS6 LEP RAB38 VPS33A
6 renal/urinary system MP:0005367 9.35 HPS5 HPS6 LEP LEPR VPS33A
7 vision/eye MP:0005391 9.1 HPS5 HPS6 LEP LEPR RAB38 VPS33A

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 5

Drugs for Hermansky-Pudlak Syndrome 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# 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 441411 12560
4
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
5
Angiotensin II Approved, Investigational Phase 1, Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
6
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
7 Peripheral Nervous System Agents Phase 2,Phase 1
8 Anti-Inflammatory Agents Phase 2,Phase 1
9 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
10 Analgesics Phase 2,Phase 1
11 Antirheumatic Agents Phase 2,Phase 1
12 Analgesics, Non-Narcotic Phase 2,Phase 1
13 Protective Agents Phase 1, Phase 2
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
15 Leukotriene Antagonists Phase 1, Phase 2
16 Pharmaceutical Solutions Phase 1, Phase 2
17 Gastrointestinal Agents Phase 1, Phase 2,Phase 2
18 Antihypertensive Agents Phase 1, Phase 2
19 Erythromycin Estolate Phase 1, Phase 2
20 Erythromycin Ethylsuccinate Phase 1, Phase 2
21 Giapreza Phase 1, Phase 2
22 Lipid Regulating Agents Phase 1, Phase 2
23 Lipoxygenase Inhibitors Phase 1, Phase 2
24 Respiratory System Agents Phase 1, Phase 2
25 Anticholesteremic Agents Phase 1, Phase 2
26 Hormone Antagonists Phase 1, Phase 2
27 Hypolipidemic Agents Phase 1, Phase 2
28 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
29 Anti-Arrhythmia Agents Phase 1, Phase 2
30 Antimetabolites Phase 1, Phase 2,Phase 2
31 Free Radical Scavengers Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Angiotensinogen Phase 1, Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Antiviral Agents Phase 1, Phase 2
36 Erythromycin stearate Phase 1, Phase 2
37 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
38 Anti-Bacterial Agents Phase 1, Phase 2
39 Antidotes Phase 1, Phase 2
40 Angiotensin Receptor Antagonists Phase 1, Phase 2
41 Expectorants Phase 1, Phase 2
42 N-monoacetylcystine Phase 1, Phase 2
43 Antioxidants Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
4 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
5 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
6 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
7 Procurement and Analysis of Specimens From Individuals With Pulmonary Fibrosis Recruiting NCT00084305
8 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 5

Genetic Tests for Hermansky-Pudlak Syndrome 5

Genetic tests related to Hermansky-Pudlak Syndrome 5:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 5 30 HPS5

Anatomical Context for Hermansky-Pudlak Syndrome 5

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 5:

42
Lung, Skin, Eye, Breast

Publications for Hermansky-Pudlak Syndrome 5

Articles related to Hermansky-Pudlak Syndrome 5:

(show all 14)
# Title Authors Year
1
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. ( 28739598 )
2017
2
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. ( 28296950 )
2017
3
Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. ( 27333462 )
2016
4
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. ( 24698632 )
2014
5
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. ( 23607980 )
2013
6
The mouse ruby-eye 2(d) (ru2(d) /Hps5(ru2-d) ) allele inhibits eumelanin but not pheomelanin synthesis. ( 23672590 )
2013
7
A new mutation of mouse ruby-eye 2, ru2(d)/Hps5(ru2-d) inhibits eumelanin synthesis but stimulates pheomelanin synthesis in melanocytes. ( 23030338 )
2012
8
A homolog of the human Hermansky-Pudluck syndrome-5 (HPS5) gene is responsible for the oa larval translucent mutants in the silkworm, Bombyx mori. ( 23250771 )
2012
9
A novel deletion mutation of mouse ruby-eye 2 named ru2(d)/Hps5(ru2-d) inhibits melanocyte differentiation and its impaired differentiation is rescued by L-tyrosine. ( 22035301 )
2011
10
The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). ( 17156100 )
2007
11
The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene. ( 17632576 )
2007
12
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. ( 15030569 )
2004
13
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. ( 15296495 )
2004
14
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. ( 12548288 )
2003

Variations for Hermansky-Pudlak Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Hermansky-Pudlak Syndrome 5:

76
# Symbol AA change Variation ID SNP ID
1 HPS5 p.Leu624Arg VAR_062285 rs281865102
2 HPS5 p.Thr1098Ile VAR_062286 rs61884288

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 5:

6 (show all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPS5 NM_181507.1(HPS5): c.2025_2028delAGTT (p.Val676Metfs) deletion Pathogenic rs281865103 GRCh37 Chromosome 11, 18313401: 18313404
2 HPS5 NM_181507.1(HPS5): c.2025_2028delAGTT (p.Val676Metfs) deletion Pathogenic rs281865103 GRCh38 Chromosome 11, 18291854: 18291857
3 HPS5 NM_181507.1(HPS5): c.1871T> G (p.Leu624Arg) single nucleotide variant Pathogenic rs281865102 GRCh37 Chromosome 11, 18313558: 18313558
4 HPS5 NM_181507.1(HPS5): c.1871T> G (p.Leu624Arg) single nucleotide variant Pathogenic rs281865102 GRCh38 Chromosome 11, 18292011: 18292011
5 HPS5 NM_181507.1(HPS5): c.2593C> T (p.Arg865Ter) single nucleotide variant Pathogenic rs281865104 GRCh37 Chromosome 11, 18309206: 18309206
6 HPS5 NM_181507.1(HPS5): c.2593C> T (p.Arg865Ter) single nucleotide variant Pathogenic rs281865104 GRCh38 Chromosome 11, 18287659: 18287659
7 HPS5 NM_181507.1(HPS5): c.2624delT (p.Leu875Cysfs) deletion Pathogenic rs281865105 GRCh37 Chromosome 11, 18309175: 18309175
8 HPS5 NM_181507.1(HPS5): c.2624delT (p.Leu875Cysfs) deletion Pathogenic rs281865105 GRCh38 Chromosome 11, 18287628: 18287628
9 HPS5 NM_181507.1(HPS5): c.2928_2929dupGA (p.Thr977Argfs) duplication Pathogenic rs397507169 GRCh37 Chromosome 11, 18306915: 18306916
10 HPS5 NM_181507.1(HPS5): c.2928_2929dupGA (p.Thr977Argfs) duplication Pathogenic rs397507169 GRCh38 Chromosome 11, 18285368: 18285369
11 HPS5 NM_181507.1(HPS5): c.3293C> T (p.Thr1098Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61884288 GRCh37 Chromosome 11, 18303533: 18303533
12 HPS5 NM_181507.1(HPS5): c.3293C> T (p.Thr1098Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61884288 GRCh38 Chromosome 11, 18281986: 18281986
13 HPS5 NM_181507.1(HPS5): c.879dupC (p.Lys294Glnfs) duplication Pathogenic rs281865101 GRCh37 Chromosome 11, 18326986: 18326986
14 HPS5 NM_181507.1(HPS5): c.879dupC (p.Lys294Glnfs) duplication Pathogenic rs281865101 GRCh38 Chromosome 11, 18305439: 18305439
15 HPS5 NM_181507.1(HPS5): c.3045G> A (p.Met1015Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61755718 GRCh38 Chromosome 11, 18283808: 18283808
16 HPS5 NM_181507.1(HPS5): c.3045G> A (p.Met1015Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61755718 GRCh37 Chromosome 11, 18305355: 18305355
17 HPS5 NM_181507.1(HPS5): c.2979_2982delTTTG (p.Cys993Trpfs) deletion Pathogenic rs886041723 GRCh37 Chromosome 11, 18305418: 18305421
18 HPS5 NM_181507.1(HPS5): c.2979_2982delTTTG (p.Cys993Trpfs) deletion Pathogenic rs886041723 GRCh38 Chromosome 11, 18283871: 18283874
19 HPS5 NM_181507.1(HPS5): c.3046G> A (p.Glu1016Lys) single nucleotide variant Uncertain significance rs17853184 GRCh38 Chromosome 11, 18283807: 18283807
20 HPS5 NM_181507.1(HPS5): c.3046G> A (p.Glu1016Lys) single nucleotide variant Uncertain significance rs17853184 GRCh37 Chromosome 11, 18305354: 18305354
21 HPS5 NM_181507.1(HPS5): c.3096_3098delCCT (p.Leu1033del) deletion Pathogenic rs753928208 GRCh38 Chromosome 11, 18282181: 18282183
22 HPS5 NM_181507.1(HPS5): c.3096_3098delCCT (p.Leu1033del) deletion Pathogenic rs753928208 GRCh37 Chromosome 11, 18303728: 18303730
23 HPS5 NM_181507.1(HPS5): c.3058+3A> G single nucleotide variant Pathogenic rs113304476 GRCh37 Chromosome 11, 18305339: 18305339
24 HPS5 NM_181507.1(HPS5): c.3058+3A> G single nucleotide variant Pathogenic rs113304476 GRCh38 Chromosome 11, 18283792: 18283792
25 HPS5 NM_181507.1(HPS5): c.2750_2751delAG (p.Glu917Valfs) deletion Pathogenic rs1131692151 GRCh38 Chromosome 11, 18286677: 18286678
26 HPS5 NM_181507.1(HPS5): c.2750_2751delAG (p.Glu917Valfs) deletion Pathogenic rs1131692151 GRCh37 Chromosome 11, 18308224: 18308225
27 HPS5 NM_181507.1(HPS5): c.2219T> C (p.Leu740Ser) single nucleotide variant Pathogenic rs1131692149 GRCh37 Chromosome 11, 18313210: 18313210
28 HPS5 NM_181507.1(HPS5): c.2219T> C (p.Leu740Ser) single nucleotide variant Pathogenic rs1131692149 GRCh38 Chromosome 11, 18291663: 18291663
29 HPS5 NM_181507.1(HPS5): c.1900delG (p.Glu634Serfs) deletion Pathogenic rs1131692146 GRCh38 Chromosome 11, 18291982: 18291982
30 HPS5 NM_181507.1(HPS5): c.1900delG (p.Glu634Serfs) deletion Pathogenic rs1131692146 GRCh37 Chromosome 11, 18313529: 18313529
31 HPS5 NM_181507.1(HPS5): c.1417C> T (p.Gln473Ter) single nucleotide variant Pathogenic rs1131692148 GRCh37 Chromosome 11, 18318438: 18318438
32 HPS5 NM_181507.1(HPS5): c.1417C> T (p.Gln473Ter) single nucleotide variant Pathogenic rs1131692148 GRCh38 Chromosome 11, 18296891: 18296891
33 HPS5 NM_181507.1(HPS5): c.818_822delCTCTC (p.Thr273Lysfs) deletion Pathogenic rs1131692147 GRCh37 Chromosome 11, 18327684: 18327688
34 HPS5 NM_181507.1(HPS5): c.818_822delCTCTC (p.Thr273Lysfs) deletion Pathogenic rs1131692147 GRCh38 Chromosome 11, 18306137: 18306141
35 HPS5 NM_181507.1(HPS5): c.719G> C (p.Arg240Pro) single nucleotide variant Pathogenic rs764296457 GRCh37 Chromosome 11, 18327787: 18327787
36 HPS5 NM_181507.1(HPS5): c.719G> C (p.Arg240Pro) single nucleotide variant Pathogenic rs764296457 GRCh38 Chromosome 11, 18306240: 18306240
37 HPS5 NM_181507.1(HPS5): c.219G> A (p.Arg73=) single nucleotide variant Pathogenic rs1131692150 GRCh38 Chromosome 11, 18311914: 18311914
38 HPS5 NM_181507.1(HPS5): c.219G> A (p.Arg73=) single nucleotide variant Pathogenic rs1131692150 GRCh37 Chromosome 11, 18333461: 18333461
39 HPS5 11p15.1 deletion deletion Pathogenic
40 HPS5 NM_181507.1(HPS5): c.1423delC (p.Leu475Serfs) deletion Likely pathogenic rs766602179 GRCh38 Chromosome 11, 18296885: 18296885
41 HPS5 NM_181507.1(HPS5): c.1423delC (p.Leu475Serfs) deletion Likely pathogenic rs766602179 GRCh37 Chromosome 11, 18318432: 18318432
42 HPS5 NM_181507.1(HPS5): c.285-10A> G single nucleotide variant Pathogenic rs200449378 GRCh38 Chromosome 11, 18310943: 18310943
43 HPS5 NM_181507.1(HPS5): c.285-10A> G single nucleotide variant Pathogenic rs200449378 GRCh37 Chromosome 11, 18332490: 18332490
44 HPS5 NM_181507.1(HPS5): c.107del (p.Lys36Serfs) deletion Pathogenic rs1554948134 GRCh37 Chromosome 11, 18339299: 18339299
45 HPS5 NM_181507.1(HPS5): c.107del (p.Lys36Serfs) deletion Pathogenic rs1554948134 GRCh38 Chromosome 11, 18317752: 18317752
46 HPS5 NM_181507.1(HPS5): c.240C> T (p.Val80=) single nucleotide variant Likely benign rs138423875 GRCh37 Chromosome 11, 18332978: 18332978
47 HPS5 NM_181507.1(HPS5): c.240C> T (p.Val80=) single nucleotide variant Likely benign rs138423875 GRCh38 Chromosome 11, 18311431: 18311431

Expression for Hermansky-Pudlak Syndrome 5

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 5.

Pathways for Hermansky-Pudlak Syndrome 5

Pathways related to Hermansky-Pudlak Syndrome 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.08 LEP LEPR
2 11.02 LEP LEPR
3
Show member pathways
10.88 LDHA LDHC
4 10.66 LDHA LDHC
5
Show member pathways
10.43 LEP LEPR
6
Show member pathways
9.7 LDHA LDHC

GO Terms for Hermansky-Pudlak Syndrome 5

Cellular components related to Hermansky-Pudlak Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.13 BACE1 RAB38 VPS33A
2 BLOC-2 complex GO:0031084 8.62 HPS5 HPS6

Biological processes related to Hermansky-Pudlak Syndrome 5 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of autophagy GO:0010507 9.52 LEP LEPR
2 pigmentation GO:0043473 9.51 HPS5 HPS6
3 T cell differentiation GO:0030217 9.49 LEP LEPR
4 lysosome localization GO:0032418 9.48 HPS6 VPS33A
5 protein localization to membrane GO:0072657 9.46 HPS6 RAB38
6 pyruvate metabolic process GO:0006090 9.43 LDHA LDHC
7 carboxylic acid metabolic process GO:0019752 9.4 LDHA LDHC
8 energy reserve metabolic process GO:0006112 9.37 LEP LEPR
9 sexual reproduction GO:0019953 9.32 LEP LEPR
10 leptin-mediated signaling pathway GO:0033210 9.26 LEP LEPR
11 regulation of bone remodeling GO:0046850 9.16 LEP LEPR
12 bone growth GO:0098868 8.96 LEP LEPR
13 organelle organization GO:0006996 8.8 HPS5 HPS6 RAB38

Molecular functions related to Hermansky-Pudlak Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.16 LDHA LDHC
2 GTP-dependent protein binding GO:0030742 8.96 HPS6 RAB38
3 L-lactate dehydrogenase activity GO:0004459 8.62 LDHA LDHC

Sources for Hermansky-Pudlak Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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