MCID: PRM018
MIFTS: 39

Primary Hypertrophic Osteoarthropathy malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Primary Hypertrophic Osteoarthropathy

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Aliases & Descriptions for Primary Hypertrophic Osteoarthropathy:

Name: Primary Hypertrophic Osteoarthropathy 11 46 13
Pachydermoperiostosis 46 25 48
Osteoarthropathy, Primary Hypertrophic 37 66
Idiopathic Hypertrophic Osteoarthropathy 46
 
Pachydermoperiostosis Syndrome 11
Touraine Solente Gole Syndrome 46
Pachydermoperiostosis of Nail 11
Pdp 46

Classifications:



External Ids:

Disease Ontology11 DOID:14283
ICD1028 M89.4
MeSH37 D010004
NCIt43 C85023

Summaries for Primary Hypertrophic Osteoarthropathy

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NIH Rare Diseases:46 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. treatment is aimed at addressing the specific symptoms present in each individual and may include nonsteroidal anti-inflammatory medications for pain and swelling of joints, retinoid treatment of skin symptoms, and plastic surgery for facial involvement.  last updated: 7/12/2016

MalaCards based summary: Primary Hypertrophic Osteoarthropathy, also known as pachydermoperiostosis, is related to reginato shiapachasse syndrome and pyruvate dehydrogenase phosphatase deficiency, and has symptoms including hyperhidrosis, seborrheic dermatitis and bone pain. An important gene associated with Primary Hypertrophic Osteoarthropathy is SLCO2A1 (Solute Carrier Organic Anion Transporter Family Member 2A1), and among its related pathways is Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. Affiliated tissues include bone, skin and heart.

Related Diseases for Primary Hypertrophic Osteoarthropathy

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Graphical network of 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 36)
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 epiphysis morphology 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 neoplasm of the skin occasional (7.5%) HP:0008069
33 impaired temperature sensation occasional (7.5%) HP:0010829
34 aseptic necrosis occasional (7.5%) HP:0010885
35 cerebral palsy occasional (7.5%) HP:0100021
36 neoplasm of the lung occasional (7.5%) HP:0100526

UMLS symptoms related to Primary Hypertrophic Osteoarthropathy:


arthralgia, flushing, metatarsalgia, clubbing, joint swelling

Drugs & Therapeutics for Primary Hypertrophic Osteoarthropathy

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Drugs for Primary Hypertrophic Osteoarthropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EtoricoxibPhase 390202409-33-4123619
Synonyms:
202409-33-4
5-Chloro-3-(4-methanesulfonyl-phenyl)-6'-methyl-[2,3']bipyridinyl
5-Chloro-6'-methyl-3-(p-(methylsulfonyl)phenyl)-2,3'-bipyridine
5-chloro-2-(6-Methylpyridin-3-yl)-3-(4-(methylsulfonyl)phenyl)pyridine
5-chloro-2-(6-methylpyridin-3-yl)-3-(4-methylsulfonylphenyl)pyridine
5-chloro-6'-Methyl-3-(P-(methylsulfonyl)phenyl)-2,3'-bipyridine
5-chloro-6'-methyl-3-[4-(methylsulfonyl)phenyl]-2,3'-bipyridine
5CH
AC1L3WZM
Algix
Arcoxia
C11718
C422649
CHEBI:106706
CHEBI:6339
CHEMBL416146
CID123619
D03710
DB01628
DB07166
ETORICOXIB
 
Etoricoxib
Etoricoxib (USAN/INN)
Etoricoxib [USAN:INN:BAN]
Etoricoxibe
Etoricoxibum
FT-0082494
HMS2090A05
L-791456
L001141
L791456
LS-181802
MK 0663
MK 663
MK-0663
MK-663
Merck Sharp & Dohme brand of etoricoxib
MolPort-003-847-339
NCGC00164578-01
Nucoxia
Tauxib
UNII-WRX4NFY03R
ZINC00579472

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effect Observation Study of COX-2 Inhibitor to Treat Primary Hypertrophic OsteoarthropathyRecruitingNCT02438709Phase 3
2Protection of Autonomic Nervous System During Lower Spine Surgical Procedures: A Safety and Feasibility StudyNot yet recruitingNCT02873182

Search NIH Clinical Center for Primary Hypertrophic Osteoarthropathy


Cochrane evidence based reviews: osteoarthropathy, primary hypertrophic

Genetic Tests for Primary Hypertrophic Osteoarthropathy

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Genetic tests related to Primary Hypertrophic Osteoarthropathy:

id Genetic test Affiliating Genes
1 Pachydermoperiostosis Syndrome25

Anatomical Context for Primary Hypertrophic Osteoarthropathy

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MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

34
Bone, Skin, Heart, Lung, Endothelial

Animal Models for Primary Hypertrophic Osteoarthropathy or affiliated genes

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Publications for Primary Hypertrophic Osteoarthropathy

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Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Primary hypertrophic osteoarthropathy: ultrasound and MRI findings. (26939972)
2016
2
A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy. (26135126)
2015
3
A novel homozygous mutation in the SLCO2 A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient. (25601417)
2015
4
Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy]. (25863089)
2015
5
Primary hypertrophic osteoarthropathy. (25255601)
2014
6
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
7
Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (25376961)
2014
8
Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy. (24185079)
2014
9
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. (24533558)
2014
10
A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy. (23531451)
2013
11
Aberrant CD200/CD200R1 expression contributes to painful synovium hyperplasia in a patient with primary hypertrophic osteoarthropathy. (23595568)
2013
12
Primary hypertrophic osteoarthropathy: an update. (23345113)
2013
13
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. (23615836)
2013
14
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. (24153155)
2013
15
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization. (23509104)
2013
16
Primary hypertrophic osteoarthropathy. (21125281)
2012
17
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. (22197487)
2012
18
Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report. (22273836)
2012
19
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. (22696055)
2012
20
Primary hypertrophic osteoarthropathy with gastric hypertrophy. (21532061)
2011
21
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. (21426412)
2011
22
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. (20406614)
2010
23
Primary hypertrophic osteoarthropathy with hypertrophic gastropathy. (20511980)
2010
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
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. (19306095)
2009
27
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. (18500342)
2008
28
Primary hypertrophic osteoarthropathy with myelofibrosis. (18038138)
2008
29
Ankylosing spondylitis in a patient with primary hypertrophic osteoarthropathy. (17551390)
2007
30
Primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (16969633)
2007
31
Primary hypertrophic osteoarthropathy in a patient with rheumatoid arthritis. (17762468)
2007
32
Palindromic rheumatism associated with primary hypertrophic osteoarthropathy. (17187097)
2006
33
Primary hypertrophic osteoarthropathy with bilateral destructive hip arthritis. (16626991)
2006
34
A family with a variant form of primary hypertrophic osteoarthropathy restricted to the lower extremities. (12814767)
2003
35
Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease. (12365184)
2002
36
Primary hypertrophic osteoarthropathy: clinical, radiologic, and scintigraphic characteristics. (11343811)
2001
37
Can fibroblasts determine the late differing outcome between systemic sclerosis and primary hypertrophic osteoarthropathy (pachydermoperiostosis)? (10728436)
2000
38
Primary hypertrophic osteoarthropathy. (10852293)
2000
39
Quiz case of the month. The diagnosis was the complete form of pachydermoperiostosis (primary hypertrophic osteoarthropathy). (10101664)
1999
40
A case of primary hypertrophic osteoarthropathy without skin involvement (Currarino's disease). (9809365)
1998
41
Immunogenetic study of 3 families with probands of primary hypertrophic osteoarthropathy. (9779325)
1998
42
Primary hypertrophic osteoarthropathy accompanied by Crohn's disease: a case report. (9409195)
1997
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
The spectrum of dermatological symptoms of pachydermoperiostosis (primary hypertrophic osteoarthropathy): a genetic, cytogenetic and ultrastructural study. (1623673)
1992
45
The clinical spectrum of pachydermoperiostosis (primary hypertrophic osteoarthropathy). (2030644)
1991
46
Primary hypertrophic osteoarthropathy. (3072678)
1988
47
Cutaneous fibrinolytic activity in primary hypertrophic osteoarthropathy. (3602953)
1987
48
Case report 399: Pachydermoperiostosis (primary hypertrophic osteoarthropathy). (3810192)
1986
49
Primary hypertrophic osteoarthropathy. (3703599)
1986
50
Primary hypertrophic osteoarthropathy (PHO) and changes in the joints. Clinical, X-ray, scintigraphic, arteriographic and histologic examination of 19 patients. (7433929)
1980

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

idSuper pathwaysScoreTop Affiliating Genes
19.1CD200, CD200R1

GO Terms for genes affiliated with Primary Hypertrophic Osteoarthropathy

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Biological processes related to Primary Hypertrophic Osteoarthropathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of immune responseGO:00507769.1CD200, CD200R1

Sources for Primary Hypertrophic Osteoarthropathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet