PDP
MCID: PRM018
MIFTS: 42

Primary Hypertrophic Osteoarthropathy (PDP) malady

Categories: Rare diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Primary Hypertrophic Osteoarthropathy

Aliases & Descriptions for Primary Hypertrophic Osteoarthropathy:

Name: Primary Hypertrophic Osteoarthropathy 12 50 14
Pachydermoperiostosis 50 29 52
Osteoarthropathy, Primary Hypertrophic 42 69
Pachydermoperiostosis of Nail [ambiguous] 12
Idiopathic Hypertrophic Osteoarthropathy 50
Pachydermoperiostosis Syndrome 12
Touraine Solente Gole Syndrome 50
Pachydermoperiostosis of Nail 12
Pdp 50

Classifications:



External Ids:

Disease Ontology 12 DOID:14283
ICD10 33 M89.4
MeSH 42 D010004
NCIt 47 C85023
UMLS 69 C0029411

Summaries for Primary Hypertrophic Osteoarthropathy

NIH Rare Diseases : 50 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, joint swelling and bone pain. An important gene associated with Primary Hypertrophic Osteoarthropathy is HPGD (Hydroxyprostaglandin Dehydrogenase 15-(NAD)), and among its related pathways/superpathways is Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. The drugs Etoricoxib and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related phenotype is Increased shRNA abundance (Z-score > 2).

Related Diseases for Primary Hypertrophic Osteoarthropathy

Diseases in the Primary Hypertrophic Osteoarthropathy family:

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 Secondary Hypertrophic Osteoarthropathy

Diseases related to Primary Hypertrophic Osteoarthropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
id Related Disease Score Top Affiliating Genes
1 cranioosteoarthropathy 11.2
2 reginato shiapachasse syndrome 11.1
3 hypertrophic osteoarthropathy, primary, autosomal recessive 2 11.1
4 arthritis 9.9
5 myelofibrosis 9.9
6 crohn's disease 9.8
7 osteonecrosis 9.8
8 ptosis 9.8
9 palindromic rheumatism 9.8
10 patent ductus arteriosus 9.8
11 acromegaly 9.8
12 spondylitis 9.8
13 endotheliitis 9.8
14 rheumatoid arthritis 9.8
15 brawny scleritis 9.2 CD200 CD200R1 DCN HPGD SLCO2A1

Graphical network of the top 20 diseases related to Primary Hypertrophic Osteoarthropathy:



Diseases related to Primary Hypertrophic Osteoarthropathy

Symptoms & Phenotypes for Primary Hypertrophic Osteoarthropathy

Human phenotypes related to Primary Hypertrophic Osteoarthropathy:

32 (show all 38)
id Description HPO Frequency HPO Source Accession
1 arthralgia 32 HP:0002829
2 joint swelling 32 HP:0001386
3 bone pain 32 HP:0002653
4 abnormality of epiphysis morphology 32 HP:0005930
5 ptosis 32 HP:0000508
6 hyperhidrosis 32 HP:0000975
7 scoliosis 32 HP:0002650
8 coarse facial features 32 HP:0000280
9 arthritis 32 HP:0001369
10 splenomegaly 32 HP:0001744
11 hepatomegaly 32 HP:0002240
12 aseptic necrosis 32 HP:0010885
13 malabsorption 32 HP:0002024
14 abnormal cortical bone morphology 32 HP:0003103
15 osteoporosis 32 HP:0000939
16 anemia 32 HP:0001903
17 palmoplantar keratoderma 32 HP:0000982
18 limitation of joint mobility 32 HP:0001376
19 acne 32 HP:0001061
20 abnormality of the fingernails 32 HP:0001231
21 abnormal hair quantity 32 HP:0011362
22 small hand 32 HP:0200055
23 seborrheic dermatitis 32 HP:0001051
24 gastrointestinal hemorrhage 32 HP:0002239
25 osteomyelitis 32 HP:0002754
26 genu varum 32 HP:0002970
27 neoplasm of the skin 32 HP:0008069
28 growth hormone excess 32 HP:0000845
29 peptic ulcer 32 HP:0004398
30 abnormal hair pattern 32 HP:0010720
31 clubbing of toes 32 HP:0100760
32 gynecomastia 32 HP:0000771
33 osteolysis 32 HP:0002797
34 cerebral palsy 32 HP:0100021
35 neoplasm of the lung 32 HP:0100526
36 cutis gyrata of scalp 32 HP:0010541
37 impaired temperature sensation 32 HP:0010829
38 eczematoid dermatitis 32 HP:0000976

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.47 CD200R1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.47 CD200R1 DCN
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.47 CD200R1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.47 CD200R1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.47 DCN
6 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.47 CD200R1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.47 CD200R1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.47 DCN
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.47 DCN
10 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.47 DCN
11 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.47 CD200R1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.47 CD200R1 DCN

Drugs & Therapeutics for Primary Hypertrophic Osteoarthropathy

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoricoxib Approved, Investigational Phase 3 202409-33-4 123619
2 Analgesics Phase 3
3 Cyclooxygenase 2 Inhibitors Phase 3
4 Cyclooxygenase Inhibitors Phase 3
5 Analgesics, Non-Narcotic Phase 3
6 Peripheral Nervous System Agents Phase 3
7 Anti-Inflammatory Agents Phase 3
8 Anti-Inflammatory Agents, Non-Steroidal Phase 3
9 Antirheumatic Agents Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effect Observation Study of COX-2 Inhibitor to Treat Primary Hypertrophic Osteoarthropathy Unknown status NCT02438709 Phase 3
2 Protection of Autonomic Nervous System During Lower Spine Surgical Procedures: A Safety and Feasibility Study Not yet recruiting NCT02873182

Search NIH Clinical Center for Primary Hypertrophic Osteoarthropathy

Cochrane evidence based reviews: osteoarthropathy, primary hypertrophic

Genetic Tests for Primary Hypertrophic Osteoarthropathy

Genetic tests related to Primary Hypertrophic Osteoarthropathy:

id Genetic test Affiliating Genes
1 Pachydermoperiostosis Syndrome 29

Anatomical Context for Primary Hypertrophic Osteoarthropathy

MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

39
Bone, Skin, Heart, Lung, Endothelial

Publications for Primary Hypertrophic Osteoarthropathy

Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50) (show all 68)
id Title Authors Year
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

ClinVar genetic disease variations for Primary Hypertrophic Osteoarthropathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HPGD NM_000860.5(HPGD): c.418G> C (p.Ala140Pro) single nucleotide variant Pathogenic rs121434480 GRCh37 Chromosome 4, 175429850: 175429850
2 HPGD NM_000860.5(HPGD): c.232_241delGTTGTAGACCinsCA (p.Val78Glnfs) indel Pathogenic rs587776676 GRCh38 Chromosome 4, 174518054: 174518063
3 HPGD NM_000860.5(HPGD): c.175_176delCT (p.Leu59Valfs) deletion Pathogenic rs548208942 GRCh37 Chromosome 4, 175443136: 175443137
4 HPGD NM_000860.5(HPGD): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs577045722 GRCh38 Chromosome 4, 174522451: 174522451
5 HPGD NM_000860.5(HPGD): c.310_311delCT (p.Leu104Alafs) deletion Pathogenic rs587777719 GRCh37 Chromosome 4, 175439135: 175439136

Expression for Primary Hypertrophic Osteoarthropathy

Search GEO for disease gene expression data for Primary Hypertrophic Osteoarthropathy.

Pathways for Primary Hypertrophic Osteoarthropathy

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

id Super pathways Score Top Affiliating Genes
1 10.75 CD200 CD200R1

GO Terms for Primary Hypertrophic Osteoarthropathy

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

id Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.16 CD200 CD200R1
2 response to lipopolysaccharide GO:0032496 8.96 DCN HPGD
3 kidney development GO:0001822 8.62 DCN HPGD

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

id Name GO ID Score Top Affiliating Genes
1 receptor activity GO:0004872 8.62 CD200 CD200R1

Sources for Primary Hypertrophic Osteoarthropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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