PDP
MCID: PRM018
MIFTS: 39

Primary Hypertrophic Osteoarthropathy (PDP) malady

Rare diseases, Bone diseases categories
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Summaries for Primary Hypertrophic Osteoarthropathy

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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 based summary: 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:46 259100

Aliases & Classifications for Primary Hypertrophic Osteoarthropathy

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Primary Hypertrophic Osteoarthropathy, Aliases & Descriptions:

Name: Primary Hypertrophic Osteoarthropathy 8 42 10
Pachydermoperiostosis 42 22 44
Idiopathic Hypertrophic Osteoarthropathy 42 62
Osteoarthropathy, Primary Hypertrophic 62
 
Pachydermoperiostosis Syndrome 8
Touraine Solente Gole Syndrome 42
Pachydermoperiostosis of Nail 8
Pdp 42


Classifications:

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


External Ids:

Disease Ontology8 DOID:14283
MeSH34 D010004
NCIt39 C85023
OMIM46 259100

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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Clinical features from OMIM:

259100

Drugs & Therapeutics for Primary Hypertrophic Osteoarthropathy

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Drug clinical trials:

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Search NIH Clinical Center for Primary Hypertrophic Osteoarthropathy

Genetic Tests for Primary Hypertrophic Osteoarthropathy

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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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MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

32
Bone, Skin, Heart, Endothelial

Animal Models for Primary Hypertrophic Osteoarthropathy or affiliated genes

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MGI Mouse Phenotypes related to Primary Hypertrophic Osteoarthropathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1SLCO2A1, HPGD

Publications for Primary Hypertrophic Osteoarthropathy

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Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Primary hypertrophic osteoarthropathy. (25255601)
2014
2
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
3
Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (25376961)
2014
4
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. (24533558)
2014
5
Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy. (24185079)
2014
6
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. (24153155)
2013
7
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization. (23509104)
2013
8
A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy. (23531451)
2013
9
Aberrant CD200/CD200R1 expression contributes to painful synovium hyperplasia in a patient with primary hypertrophic osteoarthropathy. (23595568)
2013
10
Primary hypertrophic osteoarthropathy: an update. (23345113)
2013
11
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. (23615836)
2013
12
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. (22696055)
2012
13
Primary hypertrophic osteoarthropathy. (21125281)
2012
14
A primary hypertrophic osteoarthropathy or pachydermoperiostosis. (22828562)
2012
15
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. (21426412)
2011
16
Primary hypertrophic osteoarthropathy with gastric hypertrophy. (21532061)
2011
17
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. (20406614)
2010
18
Primary hypertrophic osteoarthropathy with hypertrophic gastropathy. (20511980)
2010
19
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. (20299379)
2010
20
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. (19306095)
2009
21
Prostaglandin E2 and bone turnover markers in the evaluation of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (19455364)
2009
22
Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case. (19881067)
2009
23
Primary hypertrophic osteoarthropathy with myelofibrosis. (18038138)
2008
24
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. (18500342)
2008
25
Ankylosing spondylitis in a patient with primary hypertrophic osteoarthropathy. (17551390)
2007
26
Primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (16969633)
2007
27
Primary hypertrophic osteoarthropathy in a patient with rheumatoid arthritis. (17762468)
2007
28
A family with a variant form of primary hypertrophic osteoarthropathy restricted to the lower extremities. (12814767)
2003
29
Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease. (12365184)
2002
30
Primary hypertrophic osteoarthropathy: clinical, radiologic, and scintigraphic characteristics. (11343811)
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

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Expression for genes affiliated with Primary Hypertrophic Osteoarthropathy

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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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Sources:
44Novoseek, 28IUPHAR, 61Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Primary Hypertrophic Osteoarthropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(+-)-pgf2-alpha449.3HPGD, SLCO2A1
2prostaglandin f2alpha449.2HPGD, SLCO2A1
3pge1449.2SLCO2A1, HPGD
4prostaglandin449.1HPGD, SLCO2A1
5pge2449.1HPGD, SLCO2A1
6indomethacin44 28 61 1112.0SLCO2A1, HPGD
7arachidonic acid44 28 24 1111.8HPGD, SLCO2A1

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet