MCID: HRM006
MIFTS: 45

Hermansky-Pudlak Syndrome 3 malady

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 3

About this section

Aliases & Descriptions for Hermansky-Pudlak Syndrome 3:

Name: Hermansky-Pudlak Syndrome 3 52 11 24 70 27 12 13 68
Hps3 24 70
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 68
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 70
 
Platelet Storage Pool Deficiency 68
Delta Storage Pool Disease 70
Hps-3 24
Hps 3 24

Characteristics:

HPO:

64
hermansky-pudlak syndrome 3:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614072
Disease Ontology11 DOID:0060541
MedGen37 CN068829
MeSH39 D022861

Summaries for Hermansky-Pudlak Syndrome 3

About this section
UniProtKB/Swiss-Prot:70 Hermansky-Pudlak syndrome 3: 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 3, also known as hps3, is related to isolated delta-storage pool disease and hermansky-pudlak syndrome 2, and has symptoms including visual impairment, nystagmus and abnormal bleeding. An important gene associated with Hermansky-Pudlak Syndrome 3 is HPS3 (HPS3, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 1), and among its related pathways are Tyrosine metabolism and A-beta Pathways: Uptake and Degradation. Affiliated tissues include lung, and related mouse phenotypes are Increased LDL uptake and hearing/vestibular/ear.

Disease Ontology:11 A type of Hermasky-Pudlak syndrome caused by homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.

Description from OMIM:52 614072

Related Diseases for Hermansky-Pudlak Syndrome 3

About this section

Diseases in the Hermansky-Pudlak Syndrome 2 family:

hermansky-pudlak syndrome 3 Hermansky-Pudlak Syndrome 7
Hermansky-Pudlak Syndrome 1 Hermansky-Pudlak Syndrome 6
Hermansky-Pudlak Syndrome 5 Hermansky-Pudlak Syndrome 9
Hermansky-Pudlak Syndrome 8 Hermansky-Pudlak Syndrome 4

Diseases related to Hermansky-Pudlak Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1isolated delta-storage pool disease12.2
2hermansky-pudlak syndrome 211.1
3pancreatitis, hereditary11.1
4hermansky-pudlak syndrome 711.1
5hermansky-pudlak syndrome 111.1
6hermansky-pudlak syndrome 611.1
7hermansky-pudlak syndrome 511.1
8hermansky-pudlak syndrome 911.1
9hermansky-pudlak syndrome 811.1
10hermansky-pudlak syndrome 411.1
11pulmonary fibrosis11.1
12oculocutaneous albinism11.1
13platelet storage pool deficiency11.1
14ectodermal dysplasia 5, hair/nail type10.5HPS5, HPS6
15fibroepithelial polyp of the anus10.3MITF, PMEL
16gnathodiaphyseal dysplasia10.3HPS5, HPS6
17waardenburg syndrome/ocular albinism, digenic10.3MITF, TYR
18pyloric stenosis, infantile hypertrophic, 310.3MITF, TYR
19spasticity multiple exostoses10.3PMEL, TYR
20acute pandysautonomia10.3HPS3, HPS5, HPS6
21albinism, oculocutaneous, type ib10.3MITF, TYR
22melanoma, cutaneous malignant 810.2MITF, TYR
2310.2PMEL, TYR
24childhood brain stem glioma10.2PMEL, TYR
25anal margin carcinoma10.2MITF, TYR
26acute apical periodontitis10.2PMEL, TYR
27stomach diverticulosis10.2MITF, TYR
28renal oncocytoma10.2HPS3, HPS5, HPS6
29spindle cell hemangioma10.1PMEL, TYR
30chediak-higashi syndrome10.1TYR, TYRP1
31epithelioid type angiomyolipoma10.1MITF, TYR
32conjunctival pigmentation10.0PMEL, TYR, TYRP1
33dyschromatosis symmetrica hereditaria10.0MITF, TYR, TYRP1
34heavy chain disease10.0MITF, TYR
35penis carcinoma in situ10.0MITF, TYR
36learning disability10.0MITF, PMEL, TYR
37brown-vialetto-van laere syndrome9.9MITF, PMEL, TYR
38birth defects9.9TYR, TYRP1
39ciliary body spindle cell melanoma9.9MITF, PMEL, TYR
40partial optic atrophy9.8MITF, TYR, TYRP1
41hermaphroditism9.6HPS3, HPS5, HPS6, TYR, TYRP1
42vertebrobasilar insufficiency9.3APOE, SELP
43nail disorder, nonsyndromic congenital, 79.2DCT, MITF, PMEL, TYR, TYRP1
44autism susceptibility 166.7APOE, DCT, HPS3, HPS5, HPS6, MITF

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 3:



Diseases related to hermansky-pudlak syndrome 3

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 3

About this section


Clinical features from OMIM:

614072

Human phenotypes related to Hermansky-Pudlak Syndrome 3:

 64
id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 nystagmus64 HP:0000639
3 abnormal bleeding64 HP:0001892
4 abnormal platelet granules64 HP:0011883

UMLS symptoms related to Hermansky-Pudlak Syndrome 3:


abdominal pain

GenomeRNAi Phenotypes related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00340-A-110.0APOE, SELP

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

41 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1APOE, HPS5, HPS6, MITF, TYRP1
2MP:00053678.2APOE, HPS5, HPS6, PTPRC, SELP, TYR
3MP:00053908.0APOE, MITF, PTPRC, SELP, TYR, TYRP1
4MP:00030128.0APOE, HPS3, HPS5, MITF, PMEL, PTPRC
5MP:00053977.7APOE, HPS3, HPS5, HPS6, MITF, PMEL
6MP:00053877.6APOE, HPS3, HPS5, HPS6, MITF, PTPRC
7MP:00053787.5APOE, HPS5, HPS6, MITF, PTPRC, SELP
8MP:00011867.4APOE, DCT, HPS3, HPS5, HPS6, MITF
9MP:00036317.3APOE, DCT, HPS6, MITF, PTPRC, SELP
10MP:00107716.9APOE, DCT, HPS3, HPS5, HPS6, MITF
11MP:00053766.9APOE, HPS3, HPS5, HPS6, MITF, PMEL
12MP:00053916.1APOE, DCT, HPS3, HPS5, HPS6, MITF

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 3

About this section

Drugs for Hermansky-Pudlak Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LosartanapprovedPhase 1, Phase 2282114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
2
PravastatinapprovedPhase 1, Phase 214981093-37-054687
Synonyms:
(+)-(3R,5R)-3,5-Dihydroxy-7-[(1S,2S,6S,8S,8ar)-6-hydroxy-2-methyl-8-{[(S)-2-methylbutyryl]oxy}-1,2,6,7,8,8a-hexahydro-1-naphthyl]heptanoic acid
(3R,5R)-3,5-dihydroxy-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-{[(2S)-2-methylbutanoyl]oxy}-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]heptanoic acid
(3R,5R)-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-[(2S)-2-methylbutanoyl]oxy-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]-3,5-dihydroxyheptanoic acid
1,2,6,7,8,8a-hexahydro-beta,delta,6-trihydroxy-2-methyl-8-(2-methyl-1-oxobutoxy)-, (1S-(1alpha(betaS*,deltaS*),2alpha,6alpha,8beta(R*),8aalpha))-1-Naphthaleneheptanoic acid
3beta-Hydroxycompactin
81093-37-0
81131-70-6 (hydrochloride salt)
AC1L1HJL
AC1Q5T3M
BIDD:GT0773
BRD-K60511616-236-01-4
C01844
C23H36O7
CCRIS 7557
CHEMBL1144
CID54687
Compactin
D08410
DB00175
Elisor
Eptastatin
FT-0082682
KS-5015
LS-94713
Lipostat
Mevalothin
Mevalotin
Mevastatin
Mevinolin
 
Oliprevin
Pravachol
Pravaselect
Pravastatin (INN)
Pravastatin Sodium
Pravastatin Sodium Salt
Pravastatin [INN:BAN]
Pravastatin acid
Pravastatin sodium
Pravastatin tert-Octylamine Salt
Pravastatina
Pravastatina [Spanish]
Pravastatine
Pravastatine [French]
Pravastatinum
Pravastatinum [Latin]
Pravator
Pravator (TN)
RMS-431
SQ-31,000
Selectin
Selektine
Selipran
UNII-KXO2KT9N0G
Vasten
nchembio.301-comp7
nchembio790-comp15
pravastatin
pravastatina
pravastatine
pravastatinum
3
AcetylcysteineapprovedPhase 1, Phase 2316616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
4
Erythromycinapproved, vet_approvedPhase 1, Phase 295114-07-812560
Synonyms:
(3R,4S,5S,6R,7R,9R,11R,12R,13S,14R)-6-{[(2S,3R,4S,6R)-4-(dimethylamino)-3-hydroxy-6-methyltetrahydro-2H-pyran-2-yl]oxy}-14-ethyl-7,12,13-trihydroxy-4-{[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyltetrahydro-2H-pyran-2-yl]oxy}-3,5,7,9,11,13-hexamethyloxacyclotetradecane-2,10-dione
,10-dione
114-07-8
3''-O-demethylerythromycin
374700-25-1
45673_FLUKA
45674_FLUKA
79235-06-6
82343-12-2
A/T/S
AC-12744
AC1L1FIQ
AC1L1QK7
AC1L1ZUR
AC1O8PVA
AC1Q2UA1
AC1Q6O1S
AI3-50138
AR-1A4414
AR-1H0723
Abboticin
Abomacetin
Acneryne
Acnesol
Ak-Mycin
Ak-mycin
Akne Cordes Losung
Akne-Mycin
Akne-mycin (TN)
Aknederm Ery Gel
Aknemycin
Aknin
AustriaS
BB_NC-1332
BIDD:GT0017
BPBio1_000312
BSPBio_000282
BSPBio_002480
Benzamycin
Benzamycin Pak
Bristamycin
C-Solve-2
C01912
C37H67NO13
CCRIS 9078
CHEBI:42355
CHEMBL532
CID12560
CID3255
CID6713919
CID8233
D00140
DB00199
Del-Mycin
Derimer
Deripil
DivK1c_000294
DivK1c_000397
DivK1c_000702
Dotycin
Dumotrycin
E- mycin, Erycin, Robimysin
E-Base
E-Base (base)
E-Glades
E-Mycin
E-Mycin (base)
E-Solve 2
E0751
E0774_SIAL
E5389_SIGMA
E6376_SIAL
E7904_SIGMA
EINECS 204-040-1
EM
EMU
ERY
ERYC
ERYC (base)
ERYTHROMYCIN STEARATE
ETS
Emgel
Emu-V
Emu-Ve
Emuvin
Emycin
Endoeritrin
Erecin
Erimycin-T
Erisone
Eritomicina
Eritrocina
Eritromicina
Eritromicina [INN-Spanish]
Ermycin
Eros
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Eryacne
Eryacnen
Eryc
Eryc (TN)
Eryc 125
Eryc Sprinkles
Eryc-125
Eryc-250
Erycen
Erycette
Erycin
Erycinum
Eryderm
Erydermer
Erygel
Erygel (TN)
Eryhexal
Erymax
Erymed
Erypar
Erysafe
Erytab
Erythra-Derm
Erythro
Erythro-Statin
Erythro-Teva
Erythrocin
Erythrocin Stearate
Erythroderm
Erythrogran
Erythroguent
Erythromast 36
Erythromid
Erythromycin
Erythromycin & VRC3375
Erythromycin (JP15/USP/INN)
 
Erythromycin A
Erythromycin A, T-Stat, Pantomicina, HSDB 3074, Erytab, DRG-0279
Erythromycin B
Erythromycin C
Erythromycin Lactate
Erythromycin Ointment
Erythromycin Stearate
Erythromycin [INN:BAN:JAN]
Erythromycin base
Erythromycin estolate
Erythromycin ethylsuccinate
Erythromycin glucoheptonate
Erythromycin intravenous
Erythromycin lactobionate
Erythromycin oxime
Erythromycin sodium lauryl sulfate
Erythromycin, compd. with monododecyl sulfate, sodium salt
Erythromycine
Erythromycine [INN-French]
Erythromycinum
Erythromycinum [INN-Latin]
Erytop
Erytrociclin
Ethril 250
HMS1568O04
HMS1920M04
HMS2091D05
HMS500O16
HSDB 3074
I06-0245
IDI1_000294
IDI1_000397
IDI1_000702
Ilocaps
Ilosone
Ilosone (estolate)
Iloticina
Ilotycin
Ilotycin Gluceptate
Ilotycin T.S
Ilotycin T.S.
Inderm
Inderm Gel
IndermRetcin
KBio1_000294
KBio1_000397
KBio1_000702
KBio2_000555
KBio2_001139
KBio2_003123
KBio2_003707
KBio2_005691
KBio2_006275
KBioGR_001175
KBioSS_000555
KBioSS_001139
KST-1A8261
Kesso-Mycin
LMPK04000006
LS-187077
LS-64648
Latotryd
Lederpax
MLS001066618
Mephamycin
Mercina
MolPort-000-772-161
MolPort-002-507-378
MolPort-003-933-429
N-Methylerythromycin A
NCGC00179619-01
NCI-C55674
NINDS_000294
NINDS_000397
NINDS_000702
NSC 55929
NSC55929
Oftalmolosa Cusi Eritromicina
Oftamolets
PCE Dispertab (base)
Paediathrocin
Pantoderm
Pantodrin
Pantomicina
Pce
Pce (TN)
Pfizer-e
Pharyngocin
Prestwick0_000151
Prestwick1_000151
Prestwick2_000151
Prestwick3_000151
Prestwick_205
Primacine
Propiocine
Proterytrin
R-P Mycin
Retcin
Robimycin
Romycin
SBB057401
SMP1_000119
SMR000544946
SPBio_000778
SPBio_001226
SPBio_002221
SPECTRUM1500280
STK249736
Sans-acne
Sansac
Serp-AFD
Skid Gel E
Spectrum2_000759
Spectrum2_001263
Spectrum4_000538
Spectrum5_001596
Spectrum_000115
Spectrum_000659
Staticin
Staticin (TN)
Stiemicyn
Stiemycin
Sulfuric acid, monododecyl ester, sodium salt, compd. with erythromycin
T-Stat
T-stat (TN)
Taimoxin-F
Theramycin Z
Tiloryth
Tiprocin
Torlamicina
UNII-63937KV33D
Udima Ery Gel
Wemid
Wyamycin S
adecane-2,10-dione (non-preferred name)
bmse000664
erythro
erythromycin
nchembio.285-comp13
érythromycine
5
PirfenidoneinvestigationalPhase 24953179-13-840632
Synonyms:
5-21-07-00197 (Beilstein Handbook Reference)
5-Methyl-1-phenyl-1H-pyridin-2-one
5-Methyl-1-phenyl-2(1H)-pyridone
5-Methyl-1-phenyl-2-(1H)-pyridone
5-methyl-1-phenylpyridin-2(1H)-one
5-methyl-1-phenylpyridin-2-one
53179-13-8
AC-6797
AC1L2454
AMR 69
AMR-69
BRD-K96862998-001-03-1
BRN 1526549
Bio1_000397
Bio1_000886
Bio1_001375
C093844
C12H11NO
CID40632
D01583
Deskar
EN000704
EU-0100907
Esbriet
F-647
FT-0082541
 
I01-1466
KS-5041
LS-133834
Lopac-P-2116
Lopac0_000907
MLS000860042
NCGC00015806-01
NCGC00015806-03
NCGC00015806-05
NCGC00024992-01
NCGC00024992-02
NCGC00024992-03
P 2116
P2116_SIGMA
PIRFENIDONE
Pirespa
Pirfenidona
Pirfenidona [INN-Spanish]
Pirfenidone (Deskar)
Pirfenidone (JAN/USAN/INN)
Pirfenidone [USAN:INN]
Pirfenidonum
Pirfenidonum [INN-Latin]
S-7701
SMR000326900
Tocris-1093
ZINC00001958
6Anti-Infective AgentsPhase 1, Phase 221402
7AntimetabolitesPhase 1, Phase 211774
8Hypolipidemic AgentsPhase 1, Phase 22721
9Lipid Regulating AgentsPhase 1, Phase 22702
10Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21956
11Anticholesteremic AgentsPhase 1, Phase 21983
12Antirheumatic AgentsPhase 2, Phase 110627
13Analgesics, Non-NarcoticPhase 2, Phase 16260
14Anti-Inflammatory Agents, Non-SteroidalPhase 2, Phase 14295
15Anti-Inflammatory AgentsPhase 2, Phase 110355
16AnalgesicsPhase 2, Phase 111287
17Peripheral Nervous System AgentsPhase 2, Phase 122776
18Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 212767
19HormonesPhase 1, Phase 213979
20Respiratory System AgentsPhase 1, Phase 24818
21Hormone AntagonistsPhase 1, Phase 212778
22N-monoacetylcystinePhase 1, Phase 2316
23Lipoxygenase InhibitorsPhase 1, Phase 277
24Protective AgentsPhase 1, Phase 27190
25Pharmaceutical SolutionsPhase 1, Phase 27793
26Leukotriene AntagonistsPhase 1, Phase 2291
27Erythromycin EthylsuccinatePhase 1, Phase 295
28Anti-Arrhythmia AgentsPhase 1, Phase 22969
29Anti-Bacterial AgentsPhase 1, Phase 210884
30AngiotensinogenPhase 1, Phase 21161
31Angiotensin Receptor AntagonistsPhase 1, Phase 21173
32
Angiotensin IIPhase 1, Phase 2116268521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
33Angiotensin II Type 1 Receptor BlockersPhase 1, Phase 21078
34Gastrointestinal AgentsPhase 1, Phase 28109
35AntidotesPhase 1, Phase 21038
36Erythromycin stearatePhase 1, Phase 295
37ExpectorantsPhase 1, Phase 2388
38Antihypertensive AgentsPhase 1, Phase 24095
39Erythromycin EstolatePhase 1, Phase 295
40Antiviral AgentsPhase 1, Phase 29732
41AntioxidantsPhase 1, Phase 22928
42Oxazolidinones43
43
Anacetrapib16875446-37-0
Synonyms:
875446-37-0
Anacetrapib
Anacetrapib (USAN)
CID 11556427
 
CID11556427
D08855
MK-0859
MK0859
UNII-P7T269PR6S

Interventional clinical trials:

idNameStatusNCT IDPhase
1Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak SyndromeActive, not recruitingNCT00001596Phase 2
2Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak SyndromeTerminatedNCT00467831Phase 1, Phase 2
3Medical Treatment of Colitis in Patients With Hermansky-Pudlak SyndromeWithdrawnNCT00514982Phase 2
4Study of Megakaryocytes From Patients With Abnormal Platelet VesiclesCompletedNCT00086476
5The Effect of Anacetrapib on Vascular Function and Arterial StiffnessRecruitingNCT02931188

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 3

Genetic Tests for Hermansky-Pudlak Syndrome 3

About this section

Genetic tests related to Hermansky-Pudlak Syndrome 3:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 327 24 HPS3

Anatomical Context for Hermansky-Pudlak Syndrome 3

About this section

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 3:

36
Lung

Publications for Hermansky-Pudlak Syndrome 3

About this section

Articles related to Hermansky-Pudlak Syndrome 3:

idTitleAuthorsYear
1
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). (14718540)
2004

Variations for Hermansky-Pudlak Syndrome 3

About this section

UniProtKB/Swiss-Prot genetic disease variations for Hermansky-Pudlak Syndrome 3:

70
id Symbol AA change Variation ID SNP ID
1HPS3p.Arg397TrpVAR_013251rs121908316

Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CP;HPS3NM_032383.4(HPS3): c.2888-1612G> ASNVPathogenicrs281865096GRCh37Chr 3, 148888270: 148888270
2HPS3NM_032383.4(HPS3): c.(-3010)_(217)+692deldeletionPathogenicGRCh38Chr 3, 149126714: 149130632
3HPS3NM_032383.4(HPS3): c.1163+1G> ASNVPathogenicrs201227603GRCh37Chr 3, 148863334: 148863334
4HPS3NM_032383.4(HPS3): c.1691+2T> GSNVPathogenicrs281865093GRCh37Chr 3, 148875320: 148875320
5HPS3NM_032383.4(HPS3): c.2482-2A> GSNVPathogenicrs397507168GRCh38Chr 3, 149163840: 149163840
6HPS3NM_032383.4(HPS3): c.2589+1G> CSNVPathogenicrs281865095GRCh37Chr 3, 148881737: 148881737
7HPS3NM_032383.4(HPS3): c.1189C> T (p.Arg397Trp)SNVPathogenicrs121908316GRCh37Chr 3, 148868411: 148868411
8HPS3HPS3, 89-BP INSinsertionPathogenicChr na, -1: -1

Expression for genes affiliated with Hermansky-Pudlak Syndrome 3

About this section
Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 3.

Pathways for genes affiliated with Hermansky-Pudlak Syndrome 3

About this section

Pathways related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2DCT, TYR, TYRP1
29.0APOE, PTPRC

GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 3

About this section

Cellular components related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1BLOC-2 complexGO:003108410.1HPS3, HPS5, HPS6
2melanosome membraneGO:00331629.2DCT, TYR, TYRP1
3melanosomeGO:00424709.0DCT, PMEL, TYR, TYRP1

Biological processes related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1melanosome organizationGO:003243810.2PMEL, TYRP1
2developmental pigmentationGO:004806610.1DCT, PMEL
3melanin biosynthetic process from tyrosineGO:000658310.0DCT, TYR
4organelle organizationGO:000699610.0HPS3, HPS5, HPS6
5melanocyte differentiationGO:00303189.9HPS6, MITF, TYRP1
6melanin biosynthetic processGO:00424389.3DCT, PMEL, TYR, TYRP1
7pigmentationGO:00434738.2DCT, HPS3, HPS5, HPS6, TYR, TYRP1

Molecular functions related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055079.2DCT, TYR, TYRP1

Sources for Hermansky-Pudlak Syndrome 3

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet