MCID: PRM018
MIFTS: 40

Primary Hypertrophic Osteoarthropathy malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Primary Hypertrophic Osteoarthropathy

About this section

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

About this section
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

About this section

Graphical network of diseases related to Primary Hypertrophic Osteoarthropathy:



Diseases related to primary hypertrophic osteoarthropathy

Symptoms for Primary Hypertrophic Osteoarthropathy

About this section

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

UMLS symptoms related to Primary Hypertrophic Osteoarthropathy:


joint swelling, clubbing, metatarsalgia, flushing, arthralgia

Drugs & Therapeutics for Primary Hypertrophic Osteoarthropathy

About this section

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

About this section

Anatomical Context for Primary Hypertrophic Osteoarthropathy

About this section

MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

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

Animal Models for Primary Hypertrophic Osteoarthropathy or affiliated genes

About this section

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

About this section

Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Primary hypertrophic osteoarthropathy: ultrasound and MRI findings. (26939972)
2016
2
A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy. (26135126)
2015
3
Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy]. (25863089)
2015
4
Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment. (26523041)
2015
5
Primary hypertrophic osteoarthropathy. (25255601)
2014
6
Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up. (24816859)
2014
7
Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (25376961)
2014
8
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. (24533558)
2014
9
Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy. (24185079)
2014
10
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. (24153155)
2013
11
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization. (23509104)
2013
12
A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy. (23531451)
2013
13
Aberrant CD200/CD200R1 expression contributes to painful synovium hyperplasia in a patient with primary hypertrophic osteoarthropathy. (23595568)
2013
14
Primary hypertrophic osteoarthropathy: an update. (23345113)
2013
15
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. (23615836)
2013
16
Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report. (22273836)
2012
17
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. (22696055)
2012
18
Primary hypertrophic osteoarthropathy. (21125281)
2012
19
A primary hypertrophic osteoarthropathy or pachydermoperiostosis. (22828562)
2012
20
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. (22197487)
2012
21
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. (21426412)
2011
22
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. (20406614)
2010
23
Primary hypertrophic osteoarthropathy with hypertrophic gastropathy. (20511980)
2010
24
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. (20299379)
2010
25
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. (19306095)
2009
26
Prostaglandin E2 and bone turnover markers in the evaluation of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (19455364)
2009
27
Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case. (19881067)
2009
28
Primary hypertrophic osteoarthropathy with myelofibrosis. (18038138)
2008
29
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. (18500342)
2008
30
Ankylosing spondylitis in a patient with primary hypertrophic osteoarthropathy. (17551390)
2007
31
Primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (16969633)
2007
32
A family with a variant form of primary hypertrophic osteoarthropathy restricted to the lower extremities. (12814767)
2003
33
Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease. (12365184)
2002
34
Primary hypertrophic osteoarthropathy: clinical, radiologic, and scintigraphic characteristics. (11343811)
2001
35
Can fibroblasts determine the late differing outcome between systemic sclerosis and primary hypertrophic osteoarthropathy (pachydermoperiostosis)? (10728436)
2000
36
Primary hypertrophic osteoarthropathy. (10852293)
2000
37
Nails 'obstructing' finger growth in length in primary hypertrophic osteoarthropathy (PHO). (11055833)
2000
38
Quiz case of the month. The diagnosis was the complete form of pachydermoperiostosis (primary hypertrophic osteoarthropathy). (10101664)
1999
39
Immunogenetic study of 3 families with probands of primary hypertrophic osteoarthropathy. (9779325)
1998
40
A case of primary hypertrophic osteoarthropathy without skin involvement (Currarino's disease). (9809365)
1998
41
Primary hypertrophic osteoarthropathy accompanied by Crohn's disease: a case report. (9409195)
1997
42
Increased collagen synthesis in skin fibroblasts from patients with primary hypertrophic osteoarthropathy. Evidence for trans-activational regulation of collagen transcription. (7945504)
1994
43
The role of vascular endothelium in fibroblast activation and tissue fibrosis, particularly in scleroderma (systemic sclerosis) and pachydermoperiostosis (primary hypertrophic osteoarthropathy). (1623675)
1992
44
The spectrum of dermatological symptoms of pachydermoperiostosis (primary hypertrophic osteoarthropathy): a genetic, cytogenetic and ultrastructural study. (1623673)
1992
45
Pachydermoperiostosis (primary hypertrophic osteoarthropathy): in vitro evidence for abnormal fibroblast proliferation. (1623676)
1992
46
Pachydermoperiostosis (primary hypertrophic osteoarthropathy): report of a case with evidence of endothelial and connective tissue involvement. (2930280)
1989
47
Primary hypertrophic osteoarthropathy. (3072678)
1988
48
Cutaneous fibrinolytic activity in primary hypertrophic osteoarthropathy. (3602953)
1987
49
Case report 399: Pachydermoperiostosis (primary hypertrophic osteoarthropathy). (3810192)
1986
50
Primary hypertrophic osteoarthropathy. (3703599)
1986

Variations for Primary Hypertrophic Osteoarthropathy

About this section

Expression for genes affiliated with Primary Hypertrophic Osteoarthropathy

About this section
Search GEO for disease gene expression data for Primary Hypertrophic Osteoarthropathy.

Pathways for genes affiliated with Primary Hypertrophic Osteoarthropathy

About this section

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

About this section

Sources for Primary Hypertrophic Osteoarthropathy

About this section
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