PDP
MCID: PRM018
MIFTS: 38

Primary Hypertrophic Osteoarthropathy (PDP) malady

Rare diseases, Bone diseases categories
Download this MalaCard

Summaries for Primary Hypertrophic Osteoarthropathy

About this section
Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 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: Primary Hypertrophic Osteoarthropathy, also known as pachydermoperiostosis, is related to arthritis and cranio osteoarthropathy. An important gene associated with Primary Hypertrophic Osteoarthropathy is HPGD (hydroxyprostaglandin dehydrogenase 15-(NAD)). The compounds (+-)-pgf2-alpha and prostaglandin f2alpha have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related mouse phenotype cardiovascular system.

Wikipedia:65 A periosteal reaction is the formation of new bone in response to injury or other stimuli of the... more...

Description from OMIM:47 259100

Aliases & Classifications for Primary Hypertrophic Osteoarthropathy

About this section
Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 47OMIM, 35MeSH, 40NCIt
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Bone diseases


Aliases & Descriptions:

primary hypertrophic osteoarthropathy 8 43 10
pachydermoperiostosis 43 22 45
idiopathic hypertrophic osteoarthropathy 43
osteoarthropathy, primary hypertrophic 62
pachydermoperiostosis syndrome 8
touraine solente gole syndrome 43
pachydermoperiostosis of nail 8
pdp 43


External Ids:

Disease Ontology8 DOID:14283
OMIM47 259100
MeSH35 D010004
NCIt40 C85023

Related Diseases for Primary Hypertrophic Osteoarthropathy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to primary hypertrophic osteoarthropathy

Symptoms for Primary Hypertrophic Osteoarthropathy

About this section
Sources:
47OMIM
See all sources


Clinical features from OMIM:

259100

Drugs & Therapeutics for Primary Hypertrophic Osteoarthropathy

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Primary Hypertrophic Osteoarthropathy

Search NIH Clinical Center for Primary Hypertrophic Osteoarthropathy

Genetic Tests for Primary Hypertrophic Osteoarthropathy

About this section
Sources:
22GTR
See all sources

Genetic tests related to Primary Hypertrophic Osteoarthropathy:

id Genetic test Affiliating Genes
1 Pachydermoperiostosis Syndrome22

Anatomical Context for Primary Hypertrophic Osteoarthropathy

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

33
Bone, Skin, Heart, Endothelial

Animal Models for Primary Hypertrophic Osteoarthropathy or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Primary Hypertrophic Osteoarthropathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1SLCO2A1, HPGD

Publications for Primary Hypertrophic Osteoarthropathy

About this section
Sources:
52PubMed
See all sources

Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy. (24185079)
2014
2
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. (24153155)
2013
3
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization. (23509104)
2013
4
A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy. (23531451)
2013
5
Aberrant CD200/CD200R1 expression contributes to painful synovium hyperplasia in a patient with primary hypertrophic osteoarthropathy. (23595568)
2013
6
Primary hypertrophic osteoarthropathy: an update. (23345113)
2013
7
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. (23615836)
2013
8
Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report. (22273836)
2012
9
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. (22696055)
2012
10
Primary hypertrophic osteoarthropathy. (21125281)
2012
11
A primary hypertrophic osteoarthropathy or pachydermoperiostosis. (22828562)
2012
12
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. (22197487)
2012
13
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. (22331663)
2012
14
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. (21426412)
2011
15
Primary hypertrophic osteoarthropathy with gastric hypertrophy. (21532061)
2011
16
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. (20406614)
2010
17
Primary hypertrophic osteoarthropathy with hypertrophic gastropathy. (20511980)
2010
18
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. (20299379)
2010
19
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. (19306095)
2009
20
Prostaglandin E2 and bone turnover markers in the evaluation of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (19455364)
2009
21
Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case. (19881067)
2009
22
Primary hypertrophic osteoarthropathy with myelofibrosis. (18038138)
2008
23
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. (18500342)
2008
24
Ankylosing spondylitis in a patient with primary hypertrophic osteoarthropathy. (17551390)
2007
25
Primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (16969633)
2007
26
Primary hypertrophic osteoarthropathy in a patient with rheumatoid arthritis. (17762468)
2007
27
Palindromic rheumatism associated with primary hypertrophic osteoarthropathy. (17187097)
2006
28
Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease. (12365184)
2002
29
Primary hypertrophic osteoarthropathy: clinical, radiologic, and scintigraphic characteristics. (11343811)
2001
30
Reactivation of primary hypertrophic osteoarthropathy by bronchogenic carcinoma. (11247336)
2001
31
Can fibroblasts determine the late differing outcome between systemic sclerosis and primary hypertrophic osteoarthropathy (pachydermoperiostosis)? (10728436)
2000
32
Primary hypertrophic osteoarthropathy. (10852293)
2000
33
Nails 'obstructing' finger growth in length in primary hypertrophic osteoarthropathy (PHO). (11055833)
2000
34
Quiz case of the month. The diagnosis was the complete form of pachydermoperiostosis (primary hypertrophic osteoarthropathy). (10101664)
1999
35
Primary hypertrophic osteoarthropathy. (10862323)
1999
36
Immunogenetic study of 3 families with probands of primary hypertrophic osteoarthropathy. (9779325)
1998
37
A case of primary hypertrophic osteoarthropathy without skin involvement (Currarino's disease). (9809365)
1998
38
Primary hypertrophic osteoarthropathy accompanied by Crohn's disease: a case report. (9409195)
1997
39
Increased collagen synthesis in skin fibroblasts from patients with primary hypertrophic osteoarthropathy. Evidence for trans-activational regulation of collagen transcription. (7945504)
1994
40
Femoral head osteonecrosis in primary hypertrophic osteoarthropathy. (8323391)
1993
41
Primary hypertrophic osteoarthropathy: another heritable disorder associated with patent ductus arteriosus. (8415225)
1993
42
The role of vascular endothelium in fibroblast activation and tissue fibrosis, particularly in scleroderma (systemic sclerosis) and pachydermoperiostosis (primary hypertrophic osteoarthropathy). (1623675)
1992
43
The spectrum of dermatological symptoms of pachydermoperiostosis (primary hypertrophic osteoarthropathy): a genetic, cytogenetic and ultrastructural study. (1623673)
1992
44
Pachydermoperiostosis (primary hypertrophic osteoarthropathy): in vitro evidence for abnormal fibroblast proliferation. (1623676)
1992
45
The clinical spectrum of pachydermoperiostosis (primary hypertrophic osteoarthropathy). (2030644)
1991
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
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Primary Hypertrophic Osteoarthropathy

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

Pathways for genes affiliated with Primary Hypertrophic Osteoarthropathy

About this section

Compounds for genes affiliated with Primary Hypertrophic Osteoarthropathy

About this section
Sources:
45Novoseek, 29IUPHAR, 61Tocris Bioscience, 11DrugBank, 24HMDB
See all sources

Compounds related to Primary Hypertrophic Osteoarthropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(+-)-pgf2-alpha459.3SLCO2A1, HPGD
2prostaglandin f2alpha459.2SLCO2A1, HPGD
3pge1459.2SLCO2A1, HPGD
4prostaglandin459.1HPGD, SLCO2A1
5pge2459.1SLCO2A1, HPGD
6indomethacin45 29 61 1112.0SLCO2A1, HPGD
7arachidonic acid45 29 24 1111.8SLCO2A1, HPGD

GO Terms for genes affiliated with Primary Hypertrophic Osteoarthropathy

About this section

Products for genes affiliated with Primary Hypertrophic Osteoarthropathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Hypertrophic Osteoarthropathy

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet