PDP
MCID: PRM018
MIFTS: 38

Primary Hypertrophic Osteoarthropathy (PDP) malady

Bone diseases category

Summaries for Primary Hypertrophic Osteoarthropathy

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Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 secondary hypertrophic osteoarthropathy and arthritis. An important gene associated with Primary Hypertrophic Osteoarthropathy is HPGD (hydroxyprostaglandin dehydrogenase 15-(NAD)). The compounds nad+ and (+-)-pgf2-alpha have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart.

Wikipedia:63 A periosteal reaction is the formation of new bone in response to injury or other stimuli of the... more...

Description from OMIM:46 259100

Aliases & Classifications for Primary Hypertrophic Osteoarthropathy

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 22GTR, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 46OMIM
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Classifications:

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


Aliases & Descriptions:

primary hypertrophic osteoarthropathy 8 42 10
pachydermoperiostosis 42 22 44
idiopathic hypertrophic osteoarthropathy 42
osteoarthropathy, primary hypertrophic 60
touraine solente gole syndrome 42
pachydermoperiostosis syndrome 8
pachydermoperiostosis of nail 8
pdp 42


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Disease Ontology8 DOID:14283
NCIt39 C85023
MeSH34 D010004
OMIM46 259100

Related Diseases for Primary Hypertrophic Osteoarthropathy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Primary Hypertrophic Osteoarthropathy:



Diseases related to primary hypertrophic osteoarthropathy

Clinical Features for Primary Hypertrophic Osteoarthropathy

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46OMIM
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Clinical features from OMIM:

259100

Drugs & Therapeutics for Primary Hypertrophic Osteoarthropathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Primary Hypertrophic Osteoarthropathy

Drug clinical trials:

Search ClinicalTrials for Primary Hypertrophic Osteoarthropathy

Search NIH Clinical Center for Primary Hypertrophic Osteoarthropathy

Search CenterWatch for Primary Hypertrophic Osteoarthropathy

Genetic Tests for Primary Hypertrophic Osteoarthropathy

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22GTR
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Genetic tests related to Primary Hypertrophic Osteoarthropathy:

id Genetic test Affiliating Genes
1 Pachydermoperiostosis Syndrome22

Anatomical Context for Primary Hypertrophic Osteoarthropathy

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32MalaCards
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MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

32
Bone, Skin, Heart, Lung, Liver, Endothelial

Animal Models for Primary Hypertrophic Osteoarthropathy or affiliated genes

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Publications for Primary Hypertrophic Osteoarthropathy

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50PubMed
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Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50)    (show all 63)
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
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. (23615836)
2013
7
Hypertrophic osteoarthropathy with acro-osteolysis in a patient with primary pulmonary hypertension. (22285205)
2012
8
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. (22696055)
2012
9
Primary hypertrophic osteoarthropathy. (21125281)
2012
10
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. (22197487)
2012
11
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. (22331663)
2012
12
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. (21426412)
2011
13
Primary hypertrophic osteoarthropathy with gastric hypertrophy. (21532061)
2011
14
Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity. (20889364)
2011
15
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. (20406614)
2010
16
Primary hypertrophic osteoarthropathy with hypertrophic gastropathy. (20511980)
2010
17
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. (20299379)
2010
18
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. (19306095)
2009
19
Primary hypertrophic osteoarthropathy with myelofibrosis. (18038138)
2008
20
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. (18500342)
2008
21
Primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (16969633)
2007
22
Primary hypertrophic osteoarthropathy in a patient with rheumatoid arthritis. (17762468)
2007
23
Primary hypertrophic osteoarthropathy with bilateral destructive hip arthritis. (16626991)
2006
24
Hypertrophic osteoarthropathy in primary liver rhabdomyosarcoma. (14600794)
2004
25
Secondary hypertrophic osteoarthropathy (HOA) mimicking primary HOA (pachydermoperiostitis or Touraine-Solente-GolAc) syndrome. (14740519)
2004
26
A family with a variant form of primary hypertrophic osteoarthropathy restricted to the lower extremities. (12814767)
2003
27
Primary hypertrophic osteoarthropathy: clinical, radiologic, and scintigraphic characteristics. (11343811)
2001
28
Pulmonary hypertrophic osteoarthropathy associated with primary lung cancer]. (10723957)
2000
29
Can fibroblasts determine the late differing outcome between systemic sclerosis and primary hypertrophic osteoarthropathy (pachydermoperiostosis)? (10728436)
2000
30
Primary hypertrophic osteoarthropathy. (10852293)
2000
31
Nails 'obstructing' finger growth in length in primary hypertrophic osteoarthropathy (PHO). (11055833)
2000
32
Quiz case of the month. The diagnosis was the complete form of pachydermoperiostosis (primary hypertrophic osteoarthropathy). (10101664)
1999
33
Primary hypertrophic osteoarthropathy. (10862323)
1999
34
A case of primary hypertrophic osteoarthropathy without skin involvement (Currarino's disease). (9809365)
1998
35
Radiological changes of short and flat bones in primary hypertrophic osteoarthropathy. (10070276)
1998
36
Primary hypertrophic osteoarthropathy accompanied by Crohn's disease: a case report. (9409195)
1997
37
Increased collagen synthesis in skin fibroblasts from patients with primary hypertrophic osteoarthropathy. Evidence for trans-activational regulation of collagen transcription. (7945504)
1994
38
Femoral head osteonecrosis in primary hypertrophic osteoarthropathy. (8323391)
1993
39
Primary hypertrophic osteoarthropathy: another heritable disorder associated with patent ductus arteriosus. (8415225)
1993
40
The spectrum of dermatological symptoms of pachydermoperiostosis (primary hypertrophic osteoarthropathy): a genetic, cytogenetic and ultrastructural study. (1623673)
1992
41
Pachydermoperiostosis (primary hypertrophic osteoarthropathy): in vitro evidence for abnormal fibroblast proliferation. (1623676)
1992
42
The clinical spectrum of pachydermoperiostosis (primary hypertrophic osteoarthropathy). (2030644)
1991
43
Pachydermoperiostosis (primary hypertrophic osteoarthropathy): report of a case with evidence of endothelial and connective tissue involvement. (2930280)
1989
44
Primary hypertrophic osteoarthropathy. (3072678)
1988
45
Cutaneous fibrinolytic activity in primary hypertrophic osteoarthropathy. (3602953)
1987
46
Case report 399: Pachydermoperiostosis (primary hypertrophic osteoarthropathy). (3810192)
1986
47
Primary hypertrophic osteoarthropathy. (3703599)
1986
48
Primary hypertrophic osteoarthropathy (PHO) and changes in the joints. Clinical, X-ray, scintigraphic, arteriographic and histologic examination of 19 patients. (7433929)
1980
49
Primary lymphosarcoma of lung associated with hypertrophic pulmonary osteoarthropathy. (582631)
1979
50
Primary intrapulmonary neurogenic sarcoma with hypertrophic pulmonary osteoarthropathy and asbestosis. (5576539)
1971

Genetic Variations for Primary Hypertrophic Osteoarthropathy

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Expression for genes affiliated with Primary Hypertrophic Osteoarthropathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Primary Hypertrophic Osteoarthropathy

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Pathways for genes affiliated with Primary Hypertrophic Osteoarthropathy

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Compounds for genes affiliated with Primary Hypertrophic Osteoarthropathy

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Primary Hypertrophic Osteoarthropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nad+449.5HPGD, PDP1
2(+-)-pgf2-alpha449.5SLCO2A1, HPGD
3prostaglandin f2alpha449.5SLCO2A1, HPGD
4pge1449.5SLCO2A1, HPGD
5prostaglandin449.4HPGD, SLCO2A1
6indomethacin44 59 28 1112.3SLCO2A1, HPGD
7pge2449.3SLCO2A1, HPGD
8nadh44 11 2411.3HPGD, PDP1
9arachidonic acid44 28 11 2412.0SLCO2A1, HPGD

GO Terms for genes affiliated with Primary Hypertrophic Osteoarthropathy

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Products for genes affiliated with Primary Hypertrophic Osteoarthropathy

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Sources for Primary Hypertrophic Osteoarthropathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet