MCID: HRM001
MIFTS: 60

Hermansky-Pudlak Syndrome malady

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

Aliases & Classifications for Hermansky-Pudlak Syndrome

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Aliases & Descriptions for Hermansky-Pudlak Syndrome:

Name: Hermansky-Pudlak Syndrome 10 21 45 22 23 47 12 51
Hps 10 45 23 51
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 45 65
Hermansky Pudlak Syndrome 45 24
 
Hermanski-Pudlak Syndrome 36 65
Platelet Storage Pool Deficiency 65
Delta Storage Pool Disease 45
Hantavirus Infections 65

Characteristics:

Orphanet epidemiological data:

51
hermansky-pudlak syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age

Classifications:



External Ids:

Disease Ontology10 DOID:3753
ICD1027 E70.331
MeSH36 D022861
NCIt42 C37261
Orphanet51 79430
ICD10 via Orphanet28 E70.3
UMLS65 C0079504, C0242994, C2931875

Summaries for Hermansky-Pudlak Syndrome

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NIH Rare Diseases:45 Hermansky-pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). long-term sun exposure greatly increases the risk of skin damage and skin cancers. some individuals have colitis, kidney failure, and pulmonary fibrosis. symptoms of pulmonary fibrosis usually appear during the early thirties and rapidly worsen. this condition is inherited in an autosomal recessive fashion. treatment is symptomatic and supportive. there are nine different types of hermansky-pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. types 1 and 4 are the most severe forms. types 1, 2, and 4 are the only types associated with pulmonary fibrosis. individuals with type 3, 5, or 6 have the mildest symptoms of all the types. little is known about the signs, symptoms, and severity of types 7, 8 and 9. last updated: 1/15/2016

MalaCards based summary: Hermansky-Pudlak Syndrome, also known as hps, is related to hermansky-pudlak syndrome with pulmonary fibrosis and chediak-higashi syndrome, and has symptoms including visual impairment, nystagmus and ocular albinism. An important gene associated with Hermansky-Pudlak Syndrome is HPS6 (HPS6, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3), and among its related pathways is Clathrin derived vesicle budding. Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are no phenotypic analysis and limbs/digits/tail.

Disease Ontology:10 An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.

Genetics Home Reference:23 Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk of skin damage and skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism. In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood.

GeneReviews summary for NBK1287

Related Diseases for Hermansky-Pudlak Syndrome

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Diseases in the Hermansky-Pudlak Syndrome family:

Hermansky-Pudlak Syndrome 3 Hermansky-Pudlak Syndrome 2
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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1hermansky-pudlak syndrome with pulmonary fibrosis33.8HPS3, HPS5, HPS6
2chediak-higashi syndrome30.1HPS1, RAB27A, TYR
3pulmonary sarcoidosis29.7HPS1, HPS3, HPS4, HPS5, HPS6
4hermansky-pudlak syndrome 512.6
5hermansky-pudlak syndrome 612.6
6hermansky-pudlak syndrome 312.6
7hermansky-pudlak syndrome 112.6
8hermansky-pudlak syndrome 212.6
9hermansky-pudlak syndrome 712.6
10hermansky-pudlak syndrome 912.6
11hermansky-pudlak syndrome 812.6
12hermansky-pudlak syndrome 412.5
13isolated delta-storage pool disease12.3
14hermansky-pudlak syndrome with neutropenia12.3
15hermansky-pudlak syndrome without pulmonary fibrosis12.2
16hantavirus pulmonary syndrome11.6
17pancreatitis, hereditary11.4
18platelet storage pool deficiency10.9
19pulmonary fibrosis10.7
20albinism10.7
21oculocutaneous albinism10.6
22colitis10.6
23breast cancer10.5
24hepatitis c virus10.5
25cervical cancer, somatic10.5
26pneumonia10.5
27lung disease10.4
28acute sensory ataxic neuropathy10.4HPS1, HPS4
29interstitial lung disease10.4
30diffuse pulmonary fibrosis10.4
31hemophagocytic lymphohistiocytosis10.3
32neuronitis10.3
33thrombasthenia10.3
34ectodermal dysplasia 5, hair/nail type10.3HPS5, HPS6
35autism susceptibility 1610.2HPS3, HPS5, HPS6
36gnathodiaphyseal dysplasia10.2HPS5, HPS6
37schizophrenia10.1
38systemic lupus erythematosus10.1
39lung cancer10.1
40hiv-110.1
41neuronal ceroid-lipofuscinoses10.1
42crohn's disease10.1
43glomerulonephritis10.1
44acrofacial dysostosis10.1
45pulmonary alveolar proteinosis10.1
46crescentic glomerulonephritis10.1
47keratosis10.1
48pneumothorax10.1
49melanoma10.1
50dysostosis10.1

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



Diseases related to hermansky-pudlak syndrome

Symptoms for Hermansky-Pudlak Syndrome

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Symptoms:

 51 (show all 44)
  • iris albinism/ocular albinism
  • mild visual loss/impaired visual acuity
  • nystagmus
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • autosomal recessive inheritance
  • cataract/lens opacification
  • retinal albinism
  • macular pigmentary anomaly/cherry-red spot
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • myopia
  • astigmatism
  • photophobia
  • abnormal vep/visual evoked potential
  • abnormal eye movements/oculomotor disorder
  • strabismus/squint
  • ecchymoses
  • decreased hair pigmentation/hypopigmentation of hair
  • albinism (hair)
  • lung fibrosis
  • bruisability
  • structural anomalies of the kidney and the urinary tract
  • renal failure
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • epistaxis/nose bleeding
  • visual loss/blindness/amblyopia
  • long/thick/curved lashes/trichomegaly/polytrichia
  • enamel anomaly
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • thick skin/pachydermia/orange skin
  • pigmented naevi/naevus pigmentosus/lentigo
  • intestinal/colonic anomaly
  • acute abdominal pain/colic
  • malabsorption/chronic diarrhea/steatorrhea
  • inflammatory intestinal disease
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cardiomyopathy/hypertrophic/dilated
  • polynuclear cells/neutrophils anomalies/neutropenia
  • platelet disorders/thrombopathies
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • asthenia/fatigue/weakness

HPO human phenotypes related to Hermansky-Pudlak Syndrome:

(show all 35)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 nystagmus hallmark (90%) HP:0000639
3 ocular albinism hallmark (90%) HP:0001107
4 abnormality of coagulation hallmark (90%) HP:0001928
5 generalized hypopigmentation hallmark (90%) HP:0007513
6 renal insufficiency typical (50%) HP:0000083
7 abnormality of the menstrual cycle typical (50%) HP:0000140
8 epistaxis typical (50%) HP:0000421
9 astigmatism typical (50%) HP:0000483
10 strabismus typical (50%) HP:0000486
11 cataract typical (50%) HP:0000518
12 myopia typical (50%) HP:0000545
13 photophobia typical (50%) HP:0000613
14 optic atrophy typical (50%) HP:0000648
15 abnormality of visual evoked potentials typical (50%) HP:0000649
16 bruising susceptibility typical (50%) HP:0000978
17 abnormality of the macula typical (50%) HP:0001103
18 ocular albinism typical (50%) HP:0001107
19 pulmonary fibrosis typical (50%) HP:0002206
20 hypopigmentation of hair typical (50%) HP:0005599
21 abnormality of the eyelashes occasional (7.5%) HP:0000499
22 visual impairment occasional (7.5%) HP:0000505
23 abnormality of dental enamel occasional (7.5%) HP:0000682
24 hyperkeratosis occasional (7.5%) HP:0000962
25 melanocytic nevus occasional (7.5%) HP:0000995
26 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
27 weight loss occasional (7.5%) HP:0001824
28 abnormality of thrombocytes occasional (7.5%) HP:0001872
29 abnormality of neutrophils occasional (7.5%) HP:0001874
30 malabsorption occasional (7.5%) HP:0002024
31 abdominal pain occasional (7.5%) HP:0002027
32 inflammation of the large intestine occasional (7.5%) HP:0002037
33 respiratory insufficiency occasional (7.5%) HP:0002093
34 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
35 neoplasm of the skin occasional (7.5%) HP:0008069

UMLS symptoms related to Hermansky-Pudlak Syndrome:


abdominal pain, pruritus, achromia of skin

Drugs & Therapeutics for Hermansky-Pudlak Syndrome

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

(show all 39)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LosartanapprovedPhase 1, Phase 2276114798-26-43961
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
ErythromycinapprovedPhase 1, Phase 292114-07-812560
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
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
E.e.s
E.e.s.
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
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Ery-ped
Ery-tab
Eryacne
Eryacnen
Erybid
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
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 Base
Erythromycin Base Base
Erythromycin Base Filmtab
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
3
AcetylcysteineapprovedPhase 1, Phase 2293616-91-112035
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
PravastatinapprovedPhase 1, Phase 214481093-37-054687
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
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
5
PirfenidoneinvestigationalPhase 24253179-13-840632
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
6Analgesics, Non-NarcoticPhase 2, Phase 15184
7Anti-Inflammatory AgentsPhase 2, Phase 18478
8AnalgesicsPhase 2, Phase 19358
9Anti-Inflammatory Agents, Non-SteroidalPhase 2, Phase 13549
10Contraceptives, OralPhase 23734
11Peripheral Nervous System AgentsPhase 2, Phase 118510
12Antirheumatic AgentsPhase 2, Phase 18496
13Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 29988
14Hormone AntagonistsPhase 1, Phase 210002
15Gastrointestinal AgentsPhase 1, Phase 26401
16Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21804
17HormonesPhase 1, Phase 211748
18N-monoacetylcystinePhase 1, Phase 2293
19Protective AgentsPhase 1, Phase 25651
20Respiratory System AgentsPhase 1, Phase 23931
21ExpectorantsPhase 1, Phase 2337
22Pharmaceutical SolutionsPhase 1, Phase 27004
23Leukotriene AntagonistsPhase 1, Phase 2270
24Hypolipidemic AgentsPhase 1, Phase 22228
25AntioxidantsPhase 1, Phase 22442
26Anti-Arrhythmia AgentsPhase 1, Phase 22371
27Anti-Bacterial AgentsPhase 1, Phase 29140
28AngiotensinogenPhase 1, Phase 21032
29Angiotensin Receptor AntagonistsPhase 1, Phase 21039
30
Angiotensin IIPhase 1, Phase 2103368521-88-0, 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
31Angiotensin II Type 1 Receptor BlockersPhase 1, Phase 2949
32Anticholesteremic AgentsPhase 1, Phase 21732
33Antihypertensive AgentsPhase 1, Phase 23618
34Erythromycin EstolatePhase 1, Phase 292
35Erythromycin EthylsuccinatePhase 1, Phase 292
36Antiviral AgentsPhase 1, Phase 28071
37AntimetabolitesPhase 1, Phase 29454
38Anti-Infective AgentsPhase 1, Phase 217220
39Erythromycin stearatePhase 1, Phase 292

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
5A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary FibrosisRecruitingNCT02368340
6Clinical and Basic Investigations Into Hermansky-Pudlak SyndromeRecruitingNCT00001456
7Clinical and Basic Investigations Into Erdheim Chester DiseaseRecruitingNCT01417520

Search NIH Clinical Center for Hermansky-Pudlak Syndrome


Cochrane evidence based reviews: hermanski-pudlak syndrome

Genetic Tests for Hermansky-Pudlak Syndrome

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Genetic tests related to Hermansky-Pudlak Syndrome:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome22 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome

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MalaCards organs/tissues related to Hermansky-Pudlak Syndrome:

33
Skin, Eye, Kidney, Lung, Retina, Neutrophil, T cells

Animal Models for Hermansky-Pudlak Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.8AP3B1, HPS1, HPS3, HPS5, TYR
2MP:00053718.3AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS5, TYR
3MP:00053828.2AP3B1, BLOC1S3, HPS1, HPS4, HPS5, HPS6
4MP:00053857.7AP3B1, BLOC1S6, HPS1, HPS4, HPS5, HPS6
5MP:00053777.4AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS4, HPS5
6MP:00053677.1AP3B1, BLOC1S6, CD63, DTNBP1, HPS1, HPS4
7MP:00053976.9AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3
8MP:00053866.7AP3B1, BLOC1S3, BLOC1S6, CD63, DTNBP1, RAB27A
9MP:00053786.3AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS4, HPS5
10MP:00053876.1AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3
11MP:00011865.9AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3
12MP:00107715.9AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3
13MP:00053915.8AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3
14MP:00053765.6AP3B1, BLOC1S6, CD63, DTNBP1, HPS1, HPS3

Publications for Hermansky-Pudlak Syndrome

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Articles related to Hermansky-Pudlak Syndrome:

(show top 50)    (show all 302)
idTitleAuthorsYear
1
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula. (26785811)
2016
2
Hermansky-Pudlak Syndrome: High-Resolution Computed Tomography Findings and Literature Review. (25728501)
2015
3
Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia. (24583434)
2014
4
Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant. (25117010)
2014
5
Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome. (25347450)
2014
6
An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment. (25447654)
2014
7
Metastatic cutaneous involvement of granulomatous colitis in Hermansky-Pudlak syndrome. (22471786)
2013
8
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2. (23557002)
2013
9
Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects. (24168225)
2013
10
The unique association of iris heterochromia with Hermansky-Pudlak syndrome. (24054038)
2013
11
The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. (23043085)
2012
12
Hypertension, chronic kidney disease, and renal pathology in a child with hermansky-pudlak syndrome. (21755057)
2011
13
Early alveolar epithelial dysfunction promotes lung inflammation in a mouse model of Hermansky-Pudlak syndrome. (21616998)
2011
14
Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). (20514622)
2010
15
Hermansky-Pudlak syndrome: severe colitis and good response to infliximab. (20543722)
2010
16
Novel mutation causing Hermansky-Pudlak Syndrome Type 2. (20981699)
2010
17
Hermansky-Pudlak syndrome: the importance of molecular subtyping. (20456745)
2010
18
Hermansky-Pudlak syndrome. (20214008)
2009
19
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting. (19523149)
2009
20
Hermansky-Pudlak syndrome type 1 in patients of Indian descent. (19398212)
2009
21
A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5. (18182080)
2008
22
The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). (17156100)
2007
23
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. (16420244)
2006
24
Crohn's-like colitis, enterocolitis and perianal disease in Hermansky-Pudlak syndrome. (16919103)
2006
25
Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. (15675963)
2005
26
Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome. (15655453)
2005
27
Shared mechanisms of lung injury and subsequent fibrosis: role of surfactant proteins in the pathogenesis of interstitial pneumonia in Hermansky-Pudlak Syndrome. (16020872)
2005
28
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. (15632015)
2005
29
Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. (15170859)
2004
30
Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome. (15519141)
2004
31
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. (12847290)
2003
32
Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). (12576321)
2003
33
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. (12548288)
2003
34
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. (12664304)
2003
35
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. (12442288)
2002
36
Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. (12125811)
2002
37
Hermansky-Pudlak syndrome and related disorders of organelle formation. (11208073)
2000
38
Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. (10768343)
2000
39
Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. (10631210)
2000
40
HPS gene mutations in Hermansky-Pudlak syndrome. (9973306)
1999
41
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. (8541858)
1995
42
Albinism and Hermansky-Pudlak syndrome in Puerto Rico. (2261023)
1990
43
Regulation of thioredoxin reductase by calcium in Hermansky-Pudlak syndrome. (2730141)
1989
44
Hermansky-Pudlak syndrome in pregnancy: two case studies. (4061519)
1985
45
The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations. (3921802)
1985
46
Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). (7065089)
1982
47
Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. (443250)
1979
48
Hermansky-Pudlak syndrome (HPS): a proposed block in glutathione peroxidase. (4513648)
1973
49
50

Variations for Hermansky-Pudlak Syndrome

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Expression for genes affiliated with Hermansky-Pudlak Syndrome

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

Pathways for genes affiliated with Hermansky-Pudlak Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.9AP3B1, BLOC1S3, BLOC1S6, DTNBP1

GO Terms for genes affiliated with Hermansky-Pudlak Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1melanosomeGO:00424709.7CD63, HPS4
2axon cytoplasmGO:19041159.4AP3B1, BLOC1S6, DTNBP1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1endosome to melanosome transportGO:003564610.1BLOC1S3, BLOC1S6
2anterograde axonal transportGO:000808910.1BLOC1S3, BLOC1S6
3melanosome transportGO:003240210.1BLOC1S3, BLOC1S6
4melanocyte differentiationGO:003031810.1HPS4, RAB27A
5neuron projection developmentGO:00311759.9BLOC1S3, BLOC1S6
6melanosome organizationGO:00324389.3AP3B1, BLOC1S6, TYRP1
7anterograde synaptic vesicle transportGO:00484909.3AP3B1, BLOC1S3, BLOC1S6, DTNBP1
8organelle organizationGO:00069969.0DTNBP1, HPS3, HPS4, HPS5, HPS6
9pigmentationGO:00434738.7BLOC1S3, BLOC1S6, RAB27A, TYRP1
10blood coagulationGO:00075967.9CD63, DTNBP1, HPS4, HPS5, HPS6, RAB27A

Sources for Hermansky-Pudlak Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet