PDP
MCID: PRM018
MIFTS: 42

Primary Hypertrophic Osteoarthropathy (PDP) 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 48 13
Pachydermoperiostosis 48 27 50
Osteoarthropathy, Primary Hypertrophic 39 68
Idiopathic Hypertrophic Osteoarthropathy 48
 
Pachydermoperiostosis Syndrome 11
Touraine Solente Gole Syndrome 48
Pachydermoperiostosis of Nail 11
Pdp 48

Classifications:



External Ids:

Disease Ontology11 DOID:14283
ICD1030 M89.4
MeSH39 D010004
NCIt45 C85023

Summaries for Primary Hypertrophic Osteoarthropathy

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NIH Rare Diseases:48 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 cranioosteoarthropathy and reginato shiapachasse syndrome, and has symptoms including arthralgia, arthralgia and flushing. An important gene associated with Primary Hypertrophic Osteoarthropathy is HPGD (Hydroxyprostaglandin Dehydrogenase 15-(NAD)), and among its related pathways is Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. Affiliated tissues include bone, skin and heart, and related mouse phenotype Increased shRNA abundance (Z-score > 2).

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 & Phenotypes for Primary Hypertrophic Osteoarthropathy

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Human phenotypes related to Primary Hypertrophic Osteoarthropathy:

 64 (show all 38)
id Description HPO Frequency HPO Source Accession
1 coarse facial features64 HP:0000280
2 ptosis64 HP:0000508
3 gynecomastia64 HP:0000771
4 growth hormone excess64 HP:0000845
5 osteoporosis64 HP:0000939
6 hyperhidrosis64 HP:0000975
7 eczematoid dermatitis64 HP:0000976
8 palmoplantar keratoderma64 HP:0000982
9 seborrheic dermatitis64 HP:0001051
10 acne64 HP:0001061
11 abnormality of the fingernails64 HP:0001231
12 arthritis64 HP:0001369
13 limitation of joint mobility64 HP:0001376
14 joint swelling64 HP:0001386
15 splenomegaly64 HP:0001744
16 anemia64 HP:0001903
17 malabsorption64 HP:0002024
18 gastrointestinal hemorrhage64 HP:0002239
19 hepatomegaly64 HP:0002240
20 scoliosis64 HP:0002650
21 bone pain64 HP:0002653
22 osteomyelitis64 HP:0002754
23 osteolysis64 HP:0002797
24 arthralgia64 HP:0002829
25 genu varum64 HP:0002970
26 abnormal cortical bone morphology64 HP:0003103
27 peptic ulcer64 HP:0004398
28 abnormality of epiphysis morphology64 HP:0005930
29 neoplasm of the skin64 HP:0008069
30 cutis gyrata of scalp64 HP:0010541
31 abnormal hair pattern64 HP:0010720
32 impaired temperature sensation64 HP:0010829
33 aseptic necrosis64 HP:0010885
34 abnormal hair quantity64 HP:0011362
35 cerebral palsy64 HP:0100021
36 neoplasm of the lung64 HP:0100526
37 clubbing of toes64 HP:0100760
38 small hand64 HP:0200055

UMLS symptoms related to Primary Hypertrophic Osteoarthropathy:


arthralgia, flushing, metatarsalgia, joint swelling

GenomeRNAi Phenotypes related to Primary Hypertrophic Osteoarthropathy according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.0CD200R1, DCN

Drugs & Therapeutics for Primary Hypertrophic Osteoarthropathy

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Etoricoxibapproved, investigationalPhase 393202409-33-4123619
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
2Cyclooxygenase InhibitorsPhase 32870
3Peripheral Nervous System AgentsPhase 323689
4Cyclooxygenase 2 InhibitorsPhase 3624
5Antirheumatic AgentsPhase 310956
6Analgesics, Non-NarcoticPhase 36501
7Anti-Inflammatory AgentsPhase 310729
8Anti-Inflammatory Agents, Non-SteroidalPhase 34443
9AnalgesicsPhase 311733

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effect Observation Study of COX-2 Inhibitor to Treat Primary Hypertrophic OsteoarthropathyUnknown statusNCT02438709Phase 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 Syndrome27

Anatomical Context for Primary Hypertrophic Osteoarthropathy

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MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

36
Bone, Skin, Heart, Lung, Endothelial

Publications for Primary Hypertrophic Osteoarthropathy

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Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
Primary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly. (28469926)
2017
2
Primary hypertrophic osteoarthropathy: ultrasound and MRI findings. (26939972)
2016
3
A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy. (26135126)
2015
4
Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment. (26523041)
2015
5
A novel homozygous mutation in the SLCO2 A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient. (25601417)
2015
6
Primary hypertrophic osteoarthropathy with myelofibrosis and anemia: a case report and review of literature. (25785156)
2015
7
Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy]. (25863089)
2015
8
Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (25376961)
2014
9
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. (24533558)
2014
10
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
11
Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy. (24185079)
2014
12
Primary hypertrophic osteoarthropathy. (25255601)
2014
13
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. (23615836)
2013
14
Primary hypertrophic osteoarthropathy: an update. (23345113)
2013
15
Aberrant CD200/CD200R1 expression contributes to painful synovium hyperplasia in a patient with primary hypertrophic osteoarthropathy. (23595568)
2013
16
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. (24153155)
2013
17
A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy. (23531451)
2013
18
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization. (23509104)
2013
19
A primary hypertrophic osteoarthropathy or pachydermoperiostosis. (22828562)
2012
20
Primary hypertrophic osteoarthropathy. (21125281)
2012
21
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. (22331663)
2012
22
Primary hypertrophic osteoarthropathy (incomplete form) in young adults: a case report and review of literature. (23242097)
2012
23
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. (22197487)
2012
24
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. (22696055)
2012
25
Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report. (22273836)
2012
26
Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity. (20889364)
2011
27
Primary hypertrophic osteoarthropathy with gastric hypertrophy. (21532061)
2011
28
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. (21426412)
2011
29
Primary hypertrophic osteoarthropathy with hypertrophic gastropathy. (20511980)
2010
30
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. (20406614)
2010
31
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. (20299379)
2010
32
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. (19306095)
2009
33
Prostaglandin E2 and bone turnover markers in the evaluation of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (19455364)
2009
34
Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case. (19881067)
2009
35
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. (18500342)
2008
36
Primary hypertrophic osteoarthropathy with myelofibrosis. (18038138)
2008
37
Ankylosing spondylitis in a patient with primary hypertrophic osteoarthropathy. (17551390)
2007
38
Primary hypertrophic osteoarthropathy in a patient with rheumatoid arthritis. (17762468)
2007
39
Primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. (16969633)
2007
40
Primary hypertrophic osteoarthropathy with bilateral destructive hip arthritis. (16626991)
2006
41
Palindromic rheumatism associated with primary hypertrophic osteoarthropathy. (17187097)
2006
42
A family with a variant form of primary hypertrophic osteoarthropathy restricted to the lower extremities. (12814767)
2003
43
Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease. (12365184)
2002
44
Reactivation of primary hypertrophic osteoarthropathy by bronchogenic carcinoma. (11247336)
2001
45
Minor but important symptoms and signs in primary hypertrophic osteoarthropathy. (11407101)
2001
46
Primary hypertrophic osteoarthropathy: clinical, radiologic, and scintigraphic characteristics. (11343811)
2001
47
Nails 'obstructing' finger growth in length in primary hypertrophic osteoarthropathy (PHO). (11055833)
2000
48
Primary hypertrophic osteoarthropathy. (10852293)
2000
49
Can fibroblasts determine the late differing outcome between systemic sclerosis and primary hypertrophic osteoarthropathy (pachydermoperiostosis)? (10728436)
2000
50
Primary hypertrophic osteoarthropathy. (10862323)
1999

Variations for Primary Hypertrophic Osteoarthropathy

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Clinvar genetic disease variations for Primary Hypertrophic Osteoarthropathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HPGDNM_ 000860.5(HPGD): c.1A> T (p.Met1Leu)SNVPathogenicrs577045722GRCh38Chr 4, 174522451: 174522451
2HPGDNM_ 000860.5(HPGD): c.310_ 311delCT (p.Leu104Alafs)deletionPathogenicrs587777719GRCh37Chr 4, 175439135: 175439136
3HPGDNM_ 000860.5(HPGD): c.418G> C (p.Ala140Pro)SNVPathogenicrs121434480GRCh37Chr 4, 175429850: 175429850
4HPGDNM_ 000860.5(HPGD): c.232_ 241delGTTGTAGACCinsCA (p.Val78Glnfs)indelPathogenicrs587776676GRCh38Chr 4, 174518054: 174518063
5HPGDNM_ 000860.5(HPGD): c.175_ 176delCT (p.Leu59Valfs)deletionPathogenicrs548208942GRCh37Chr 4, 175443136: 175443137

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
1kidney developmentGO:000182210.0DCN, HPGD
2regulation of immune responseGO:00507769.7CD200, CD200R1
3response to lipopolysaccharideGO:00324969.4DCN, HPGD

Molecular functions related to Primary Hypertrophic Osteoarthropathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1receptor activityGO:00048729.1CD200, CD200R1

Sources for Primary Hypertrophic Osteoarthropathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet