PDP
MCID: PRM018
MIFTS: 36

Primary Hypertrophic Osteoarthropathy (PDP) malady

Bone category

Summaries for Primary Hypertrophic Osteoarthropathy

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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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 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 heart, liver and lung.

Wikipedia:64 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

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 22GTR, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 47OMIM
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Classifications:

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


Aliases & Descriptions:

primary hypertrophic osteoarthropathy 8 43 10
pachydermoperiostosis 43 22 45
idiopathic hypertrophic osteoarthropathy 43
osteoarthropathy, primary hypertrophic 61
touraine solente gole syndrome 43
pachydermoperiostosis syndrome 8
pachydermoperiostosis of nail 8
pdp 43


External Ids:

Disease Ontology8 DOID:14283
NCIt40 C85023
MeSH35 D010004
OMIM47 259100

Related Diseases for Primary Hypertrophic Osteoarthropathy

Sources:
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

Sources:
47OMIM
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Clinical features from OMIM:

259100

Drugs & Therapeutics for Primary Hypertrophic Osteoarthropathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

33
Heart, Liver, Lung, Skin, Endothelial

Animal Models for Primary Hypertrophic Osteoarthropathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Primary Hypertrophic Osteoarthropathy

Sources:
51PubMed
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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
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization. (23509104)
2013
3
A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy. (23531451)
2013
4
Primary hypertrophic osteoarthropathy: an update. (23345113)
2013
5
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. (23615836)
2013
6
Hypertrophic osteoarthropathy with acro-osteolysis in a patient with primary pulmonary hypertension. (22285205)
2012
7
Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report. (22273836)
2012
8
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. (22696055)
2012
9
Primary hypertrophic osteoarthropathy. (21125281)
2012
10
A primary hypertrophic osteoarthropathy or pachydermoperiostosis. (22828562)
2012
11
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. (22197487)
2012
12
Primary hypertrophic osteoarthropathy (incomplete form) in young adults: a case report and review of literature. (23242097)
2012
13
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. (21426412)
2011
14
Primary hypertrophic osteoarthropathy with gastric hypertrophy. (21532061)
2011
15
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. (20299379)
2010
16
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. (19306095)
2009
17
Prostaglandin E2 and bone turnover markers in the evaluation of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (19455364)
2009
18
Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case. (19881067)
2009
19
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. (18500342)
2008
20
Ankylosing spondylitis in a patient with primary hypertrophic osteoarthropathy. (17551390)
2007
21
Primary hypertrophic osteoarthropathy in a patient with rheumatoid arthritis. (17762468)
2007
22
Palindromic rheumatism associated with primary hypertrophic osteoarthropathy. (17187097)
2006
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
Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease. (12365184)
2002
28
Primary hypertrophic osteoarthropathy: clinical, radiologic, and scintigraphic characteristics. (11343811)
2001
29
Reactivation of primary hypertrophic osteoarthropathy by bronchogenic carcinoma. (11247336)
2001
30
Minor but important symptoms and signs in primary hypertrophic osteoarthropathy. (11407101)
2001
31
Pulmonary hypertrophic osteoarthropathy associated with primary lung cancer]. (10723957)
2000
32
Can fibroblasts determine the late differing outcome between systemic sclerosis and primary hypertrophic osteoarthropathy (pachydermoperiostosis)? (10728436)
2000
33
Primary hypertrophic osteoarthropathy. (10852293)
2000
34
Nails 'obstructing' finger growth in length in primary hypertrophic osteoarthropathy (PHO). (11055833)
2000
35
Quiz case of the month. The diagnosis was the complete form of pachydermoperiostosis (primary hypertrophic osteoarthropathy). (10101664)
1999
36
Primary hypertrophic osteoarthropathy. (10862323)
1999
37
Immunogenetic study of 3 families with probands of primary hypertrophic osteoarthropathy. (9779325)
1998
38
Radiological changes of short and flat bones in primary hypertrophic osteoarthropathy. (10070276)
1998
39
Primary hypertrophic osteoarthropathy accompanied by Crohn's disease: a case report. (9409195)
1997
40
Increased collagen synthesis in skin fibroblasts from patients with primary hypertrophic osteoarthropathy. Evidence for trans-activational regulation of collagen transcription. (7945504)
1994
41
Femoral head osteonecrosis in primary hypertrophic osteoarthropathy. (8323391)
1993
42
Primary hypertrophic osteoarthropathy: another heritable disorder associated with patent ductus arteriosus. (8415225)
1993
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
Pachydermoperiostosis (primary hypertrophic osteoarthropathy): in vitro evidence for abnormal fibroblast proliferation. (1623676)
1992
45
Primary hypertrophic osteoarthropathy. (3072678)
1988
46
Cutaneous fibrinolytic activity in primary hypertrophic osteoarthropathy. (3602953)
1987
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

Expression for genes affiliated with Primary Hypertrophic Osteoarthropathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Primary Hypertrophic Osteoarthropathy

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Primary Hypertrophic Osteoarthropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nad+459.5HPGD, PDP1
2(+-)-pgf2-alpha459.5SLCO2A1, HPGD
3prostaglandin f2alpha459.5SLCO2A1, HPGD
4pge1459.5SLCO2A1, HPGD
5prostaglandin459.4HPGD, SLCO2A1
6indomethacin45 60 29 1112.3SLCO2A1, HPGD
7pge2459.3SLCO2A1, HPGD
8nadh45 11 2411.3HPGD, PDP1
9arachidonic acid45 29 11 2412.0SLCO2A1, HPGD

GO Terms for genes affiliated with Primary Hypertrophic Osteoarthropathy

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Sources for Primary Hypertrophic Osteoarthropathy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet