MCID: PRM018
MIFTS: 40

Primary Hypertrophic Osteoarthropathy malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Primary Hypertrophic Osteoarthropathy

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Aliases & Descriptions for Primary Hypertrophic Osteoarthropathy:

Name: Primary Hypertrophic Osteoarthropathy 10 45 12
Pachydermoperiostosis 45 47 24
Osteoarthropathy, Primary Hypertrophic 36 65
Idiopathic Hypertrophic Osteoarthropathy 45
 
Pachydermoperiostosis Syndrome 10
Touraine Solente Gole Syndrome 45
Pachydermoperiostosis of Nail 10
Pdp 45

Classifications:



External Ids:

Disease Ontology10 DOID:14283
ICD1027 M89.4
MeSH36 D010004
NCIt42 C85023
UMLS65 C0029411

Summaries for Primary Hypertrophic Osteoarthropathy

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NIH Rare Diseases:45 Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain. other features may include congenital heart disease and delayed closure of fontanelles. this condition typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. both autosomal dominant and autosomal recessive inheritance has been reported. mutations in the hpgd gene have been found in those with the autosomal recessive form of this condition. last updated: 12/19/2011

MalaCards based summary: Primary Hypertrophic Osteoarthropathy, also known as pachydermoperiostosis, is related to reginato shiapachasse syndrome and cranioosteoarthropathy, and has symptoms including hyperhidrosis, seborrheic dermatitis and bone pain. An important gene associated with Primary Hypertrophic Osteoarthropathy is HPGD (Hydroxyprostaglandin Dehydrogenase 15-(NAD)), and among its related pathways is Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. Affiliated tissues include bone, skin and heart, and related mouse phenotype cellular.

Related Diseases for Primary Hypertrophic Osteoarthropathy

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Graphical network of the top 20 diseases related to Primary Hypertrophic Osteoarthropathy:



Diseases related to primary hypertrophic osteoarthropathy

Symptoms for Primary Hypertrophic Osteoarthropathy

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HPO human phenotypes related to Primary Hypertrophic Osteoarthropathy:

(show all 36)
id Description Frequency HPO Source Accession
1 hyperhidrosis hallmark (90%) HP:0000975
2 seborrheic dermatitis hallmark (90%) HP:0001051
3 bone pain hallmark (90%) HP:0002653
4 osteomyelitis hallmark (90%) HP:0002754
5 abnormal cortical bone morphology hallmark (90%) HP:0003103
6 abnormality of epiphysis morphology hallmark (90%) HP:0005930
7 coarse facial features typical (50%) HP:0000280
8 ptosis typical (50%) HP:0000508
9 acne typical (50%) HP:0001061
10 abnormality of the fingernails typical (50%) HP:0001231
11 arthritis typical (50%) HP:0001369
12 limitation of joint mobility typical (50%) HP:0001376
13 joint swelling typical (50%) HP:0001386
14 abnormality of the scalp typical (50%) HP:0001965
15 osteolysis typical (50%) HP:0002797
16 arthralgia typical (50%) HP:0002829
17 abnormal hair quantity typical (50%) HP:0011362
18 clubbing of toes typical (50%) HP:0100760
19 gynecomastia occasional (7.5%) HP:0000771
20 growth hormone excess occasional (7.5%) HP:0000845
21 palmoplantar keratoderma occasional (7.5%) HP:0000982
22 splenomegaly occasional (7.5%) HP:0001744
23 anemia occasional (7.5%) HP:0001903
24 malabsorption occasional (7.5%) HP:0002024
25 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
26 hepatomegaly occasional (7.5%) HP:0002240
27 scoliosis occasional (7.5%) HP:0002650
28 genu varum occasional (7.5%) HP:0002970
29 short palm occasional (7.5%) HP:0004279
30 abnormality of the gastric mucosa occasional (7.5%) HP:0004295
31 reduced bone mineral density occasional (7.5%) HP:0004349
32 neoplasm of the skin occasional (7.5%) HP:0008069
33 impaired temperature sensation occasional (7.5%) HP:0010829
34 aseptic necrosis occasional (7.5%) HP:0010885
35 cerebral palsy occasional (7.5%) HP:0100021
36 neoplasm of the lung occasional (7.5%) HP:0100526

Drugs & Therapeutics for Primary Hypertrophic Osteoarthropathy

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Drugs for Primary Hypertrophic Osteoarthropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Etoricoxibapproved, investigationalPhase 389202409-33-4123619
Synonyms:
202409-33-4
5-Chloro-3-(4-methanesulfonyl-phenyl)-6'-methyl-[2,3']bipyridinyl
5-Chloro-6'-methyl-3-(p-(methylsulfonyl)phenyl)-2,3'-bipyridine
5-chloro-2-(6-Methylpyridin-3-yl)-3-(4-(methylsulfonyl)phenyl)pyridine
5-chloro-2-(6-methylpyridin-3-yl)-3-(4-methylsulfonylphenyl)pyridine
5-chloro-6'-Methyl-3-(P-(methylsulfonyl)phenyl)-2,3'-bipyridine
5-chloro-6'-methyl-3-[4-(methylsulfonyl)phenyl]-2,3'-bipyridine
5CH
AC1L3WZM
Algix
Arcoxia
C11718
C422649
CHEBI:106706
CHEBI:6339
CHEMBL416146
CID123619
D03710
DB01628
DB07166
ETORICOXIB
 
Etoricoxib
Etoricoxib (USAN/INN)
Etoricoxib [USAN:INN:BAN]
Etoricoxibe
Etoricoxibum
FT-0082494
HMS2090A05
L-791456
L001141
L791456
LS-181802
MK 0663
MK 663
MK-0663
MK-663
Merck Sharp & Dohme brand of etoricoxib
MolPort-003-847-339
NCGC00164578-01
Nucoxia
Tauxib
UNII-WRX4NFY03R
ZINC00579472
2Cyclooxygenase InhibitorsPhase 32225
3Peripheral Nervous System AgentsPhase 318510
4Cyclooxygenase 2 InhibitorsPhase 3538
5Antirheumatic AgentsPhase 38496
6Analgesics, Non-NarcoticPhase 35184
7Anti-Inflammatory AgentsPhase 38478
8Anti-Inflammatory Agents, Non-SteroidalPhase 33549
9AnalgesicsPhase 39358

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effect Observation Study of COX-2 Inhibitor to Treat Primary Hypertrophic OsteoarthropathyRecruitingNCT02438709Phase 3

Search NIH Clinical Center for Primary Hypertrophic Osteoarthropathy


Cochrane evidence based reviews: osteoarthropathy, primary hypertrophic

Genetic Tests for Primary Hypertrophic Osteoarthropathy

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Anatomical Context for Primary Hypertrophic Osteoarthropathy

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MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

33
Bone, Skin, Heart, Lung, Prostate, Liver, Endothelial

Animal Models for Primary Hypertrophic Osteoarthropathy or affiliated genes

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MGI Mouse Phenotypes related to Primary Hypertrophic Osteoarthropathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.6CD200, DCN, HPGD, SLCO2A1

Publications for Primary Hypertrophic Osteoarthropathy

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Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
Simple, rapid and accurate molecular diagnosis of acute promyelocytic leukemia by loop mediated amplification technology. (25815362)
2015
2
The TRIM-FLMN protein TRIM45 directly interacts with RACK1 and negatively regulates PKC-mediated signaling pathway. (24681954)
2015
3
INPP4B is highly expressed in prostate intermediate cells and its loss of expression in prostate carcinoma predicts for recurrence and poor long term survival. (25284366)
2015
4
Phosphoregulatory protein 14-3-3 facilitates SAC1 transport from the endoplasmic reticulum. (26056309)
2015
5
DJ-1 plays an important role in caffeic acid-mediated protection of the gastrointestinal mucosa against ketoprofen-induced oxidative damage. (25037998)
2014
6
Anti-factor IXa/X bispecific antibody ACE910 prevents joint bleeds in a long-term primate model of acquired hemophilia A. (25274508)
2014
7
Posttranslational Protein Modification in the Salivary Glands of SjAPgren's Syndrome Patients. (23533719)
2013
8
Portal vein thrombosis during eltrombopag treatment for immune thrombocytopenic purpura in a patient with liver cirrhosis due to hepatitis C viral infection. (23995112)
2013
9
Detection of podocyturia in patients with lupus nephritis. (24402104)
2013
10
Seroprevalence of measles, mumps, rubella, varicella-zoster and hepatitis A-C in Emirati medical students. (23217121)
2012
11
Correlation between glomerular filtration rate and urinary N acetyl-beta-D glucosaminidase in children with persistent proteinuria in chronic glomerular disease. (22574074)
2012
12
Antimicrobial peptides: key components of the innate immune system. (22074402)
2012
13
Amphiregulin is a prognostic factor in colorectal cancer. (22641668)
2012
14
A new minimal deleted region at 11q22.3 reveals the importance of interpretation of diminished FISH signals and the choice of probe for ATM deletion screening in chronic lymphocytic leukemia. (21955805)
2012
15
Hypoglycemia in type 2 diabetes: Standpoint of an experts' committee (India hypoglycemia study group). (23226632)
2012
16
Association study of the SCN1 gene polymorphism and effective dose of lamotrigine]. (20037572)
2009
17
Calciphylaxis as a Catastrophic Complication in a Patient with POEMS Syndrome. (20847836)
2009
18
Prognostic significance of urokinase plasminogen activator receptor and its cleaved forms in blood from patients with non-small cell lung cancer. (19775344)
2009
19
Association of HSP70-hom genetic variant with prostate cancer risk. (17578680)
2008
20
The structural and functional contribution of N-terminal region and His-47 on Taiwan cobra phospholipase A2. (18008383)
2008
21
Cytokine gene polymorphisms in Italian preterm infants: association between interleukin-10 -1082 G/A polymorphism and respiratory distress syndrome. (17314689)
2007
22
Tissue factor coagulant function is enhanced by protein-disulfide isomerase independent of oxidoreductase activity. (17613528)
2007
23
EphA4 receptor, overexpressed in pancreatic ductal adenocarcinoma, promotes cancer cell growth. (16965393)
2006
24
Viral risk factor for seizures: pathobiology of dynorphin in herpes simplex viral (HSV-1) seizures in an animal model. (16843674)
2006
25
'The heart less bounding': treating angina pectoris. (17153155)
2006
26
A role for the Tip60 histone acetyltransferase in the acetylation and activation of ATM. (16141325)
2005
27
Induction of thioredoxin reductase as an adaptive response to acrolein in human umbilical vein endothelial cells. (15652504)
2005
28
Biventricular repair of complete atrioventricular canal, double-outlet right ventricle and common atrium using a modified double switch technique. A valid alternative to univentricular procedure. (17670392)
2005
29
Does mediastinitis affect the graft patency? (15854079)
2005
30
The autoregulatory translational control element of poly(A)-binding protein mRNA forms a heteromeric ribonucleoprotein complex. (16356927)
2005
31
Prevalence of 20S proteasome, anti-nuclear and thyroid antibodies in young patients at onset of type 1 diabetes mellitus and the risk of autoimmune thyroiditis. (15301045)
2004
32
Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance. (12870174)
2003
33
Mucoepidermoid carcinoma expleomorphic adenoma of the submandibular gland. (12884219)
2003
34
Characterization of a trypsin-like serine protease of activated B cells mediating the cleavage of surface proteins. (14642814)
2003
35
Glimepiride in type 2 diabetes mellitus: a review of the worldwide therapeutic experience. (12852703)
2003
36
5-hydroxytryptamine and thromboxane A2 as physiologic mediators of human umbilical artery closure. (14662162)
2003
37
Treating vaginitis. (10546257)
1999
38
Cloning of a novel member of the UDP-galactose:beta-N- acetylglucosamine beta1,4-galactosyltransferase family, beta4Gal-T4, involved in glycosphingolipid biosynthesis. (9792633)
1998
39
Thia fatty acids, metabolism and metabolic effects. (9030189)
1997
40
Pulmonary alveolar microlithiasis: review of Italian reports. (9258573)
1997
41
Consensus statement on the definition of orthostatic hypotension, pure autonomic failure, and multiple system atrophy. (8994128)
1996
42
Opposite effect of p53 on nucleotide metabolizing enzyme activity in Rat1 cells and their sublines, transformed by N-RAS or v-mos oncogenes]. (8590759)
1995
43
Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and review of the literature. (7604844)
1995
44
Quantitative immunoanalysis of promutagenic 8-hydroxy-2'-deoxyguanosine in oxidized DNA. (7923599)
1994
45
High circulating leukaemia inhibitory factor (LIF) in patients with giant cell arteritis: independent regulation of LIF and IL-6 under corticosteroid therapy. (8096803)
1993
46
Experimental infection of young turkeys with eastern equine encephalitis virus and highlands J virus. (8395798)
1993
47
Steroid receptor folding by heat-shock proteins and composition of the receptor heterocomplex. (18407118)
1992
48
Human eosinophil major basic protein induces airway constriction and airway hyperresponsiveness in primates. (2010556)
1991
49
Scintigraphic and sonographic diagnosis of neonatal mesoblastic nephroma. Case report. (6307578)
1983
50
Plasma catecholamines in hepatic coma and liver cirrhosis: role of octopamine. (6795387)
1981

Variations for Primary Hypertrophic Osteoarthropathy

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Expression for genes affiliated with Primary Hypertrophic Osteoarthropathy

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Search GEO for disease gene expression data for Primary Hypertrophic Osteoarthropathy.

Pathways for genes affiliated with Primary Hypertrophic Osteoarthropathy

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Pathways related to Primary Hypertrophic Osteoarthropathy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1CD200, CD200R1

GO Terms for genes affiliated with Primary Hypertrophic Osteoarthropathy

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Sources for Primary Hypertrophic Osteoarthropathy

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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