MCID: PRM018
MIFTS: 39

Primary Hypertrophic Osteoarthropathy malady

Genetic diseases, Rare diseases, Bone diseases categories

Aliases & Classifications for Primary Hypertrophic Osteoarthropathy

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Primary Hypertrophic Osteoarthropathy, Aliases & Descriptions:

Name: Primary Hypertrophic Osteoarthropathy 9 41 11
Pachydermoperiostosis 41 43 22
Idiopathic Hypertrophic Osteoarthropathy 41
Osteoarthropathy, Primary Hypertrophic 60
Pachydermoperiostosis Syndrome 9
 
Touraine Solente Gole Syndrome 41
Touraine-Solente-Gole Syndrome 41
Pachydermoperiostosis of Nail 9
Pdp 41


Classifications:

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


External Ids:

Disease Ontology9 DOID:14283
MeSH33 D010004
NCIt38 C85023

Summaries for Primary Hypertrophic Osteoarthropathy

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NIH Rare Diseases:41 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 primary hypertrophic osteoarthropathy, autosomal recessive 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)). 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.

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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HPO human phenotypes related to Primary Hypertrophic Osteoarthropathy:

(show all 37)
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 the epiphyses 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 abnormality of bone marrow cell morphology occasional (7.5%) HP:0005561
33 neoplasm of the skin occasional (7.5%) HP:0008069
34 impaired temperature sensation occasional (7.5%) HP:0010829
35 aseptic necrosis occasional (7.5%) HP:0010885
36 cerebral palsy occasional (7.5%) HP:0100021
37 neoplasm of the lung occasional (7.5%) HP:0100526

Drugs & Therapeutics for Primary Hypertrophic Osteoarthropathy

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Drug clinical trials:

Search ClinicalTrials for Primary Hypertrophic Osteoarthropathy

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:

31
Bone, Skin, Heart, Bone marrow, Lung, Endothelial

Animal Models for Primary Hypertrophic Osteoarthropathy or affiliated genes

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MGI Mouse Phenotypes related to Primary Hypertrophic Osteoarthropathy:

35
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 62)
idTitleAuthorsYear
1
Primary hypertrophic osteoarthropathy with myelofibrosis and anemia: a case report and review of literature. (25785156)
2015
2
Primary hypertrophic osteoarthropathy. (25255601)
2014
3
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
4
Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (25376961)
2014
5
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. (24533558)
2014
6
Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy. (24185079)
2014
7
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. (24153155)
2013
8
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization. (23509104)
2013
9
A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy. (23531451)
2013
10
Aberrant CD200/CD200R1 expression contributes to painful synovium hyperplasia in a patient with primary hypertrophic osteoarthropathy. (23595568)
2013
11
Primary hypertrophic osteoarthropathy: an update. (23345113)
2013
12
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. (23615836)
2013
13
Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report. (22273836)
2012
14
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. (22696055)
2012
15
Primary hypertrophic osteoarthropathy. (21125281)
2012
16
A primary hypertrophic osteoarthropathy or pachydermoperiostosis. (22828562)
2012
17
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. (22197487)
2012
18
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. (22331663)
2012
19
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. (21426412)
2011
20
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. (20406614)
2010
21
Primary hypertrophic osteoarthropathy with hypertrophic gastropathy. (20511980)
2010
22
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. (20299379)
2010
23
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. (19306095)
2009
24
Prostaglandin E2 and bone turnover markers in the evaluation of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (19455364)
2009
25
Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case. (19881067)
2009
26
Primary hypertrophic osteoarthropathy with myelofibrosis. (18038138)
2008
27
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. (18500342)
2008
28
Ankylosing spondylitis in a patient with primary hypertrophic osteoarthropathy. (17551390)
2007
29
Primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (16969633)
2007
30
Primary hypertrophic osteoarthropathy in a patient with rheumatoid arthritis. (17762468)
2007
31
A family with a variant form of primary hypertrophic osteoarthropathy restricted to the lower extremities. (12814767)
2003
32
Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease. (12365184)
2002
33
Primary hypertrophic osteoarthropathy: clinical, radiologic, and scintigraphic characteristics. (11343811)
2001
34
Can fibroblasts determine the late differing outcome between systemic sclerosis and primary hypertrophic osteoarthropathy (pachydermoperiostosis)? (10728436)
2000
35
Primary hypertrophic osteoarthropathy. (10852293)
2000
36
Nails 'obstructing' finger growth in length in primary hypertrophic osteoarthropathy (PHO). (11055833)
2000
37
Quiz case of the month. The diagnosis was the complete form of pachydermoperiostosis (primary hypertrophic osteoarthropathy). (10101664)
1999
38
A case of primary hypertrophic osteoarthropathy without skin involvement (Currarino's disease). (9809365)
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
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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Search GEO for disease gene expression data for Primary Hypertrophic Osteoarthropathy.

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:
43Novoseek, 28IUPHAR, 59Tocris Bioscience, 12DrugBank, 24HMDB
See all sources

Compounds related to Primary Hypertrophic Osteoarthropathy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1(+-)-pgf2-alpha439.3SLCO2A1, HPGD
2prostaglandin f2alpha439.2SLCO2A1, HPGD
3pge1439.2SLCO2A1, HPGD
4prostaglandin439.1HPGD, SLCO2A1
5pge2439.1SLCO2A1, HPGD
6indomethacin43 28 59 1212.0SLCO2A1, HPGD
7arachidonic acid43 28 24 1211.8SLCO2A1, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet