MCID: PRM018
MIFTS: 46

Primary Hypertrophic Osteoarthropathy

Categories: Rare diseases, Bone diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Primary Hypertrophic Osteoarthropathy

MalaCards integrated aliases for Primary Hypertrophic Osteoarthropathy:

Name: Primary Hypertrophic Osteoarthropathy 12 49 36 14
Pachydermoperiostosis 72 49 51
Osteoarthropathy, Primary Hypertrophic 41 69
Pachydermoperiostosis Syndrome 12 28
Pachydermoperiostosis of Nail [ambiguous] 12
Idiopathic Hypertrophic Osteoarthropathy 49
Touraine Solente Gole Syndrome 49
Pachydermoperiostosis of Nail 12
Pdp 49

Classifications:



Summaries for Primary Hypertrophic Osteoarthropathy

NIH Rare Diseases : 49 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 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 and reginato shiapachasse syndrome, and has symptoms including coarse facial features, ptosis and gynecomastia. An important gene associated with Primary Hypertrophic Osteoarthropathy is HPGD (15-Hydroxyprostaglandin Dehydrogenase), 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 phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 72 Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder... more...

Related Diseases for Primary Hypertrophic Osteoarthropathy

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:

31 (show all 39)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 31 frequent (33%) HP:0000280
2 ptosis 31 frequent (33%) HP:0000508
3 gynecomastia 31 occasional (7.5%) HP:0000771
4 growth hormone excess 31 occasional (7.5%) HP:0000845
5 osteoporosis 31 occasional (7.5%) HP:0000939
6 hyperhidrosis 31 hallmark (90%) HP:0000975
7 eczematoid dermatitis 31 occasional (7.5%) HP:0000976
8 palmoplantar keratoderma 31 occasional (7.5%) HP:0000982
9 seborrheic dermatitis 31 hallmark (90%) HP:0001051
10 acne 31 frequent (33%) HP:0001061
11 abnormality of the fingernails 31 frequent (33%) HP:0001231
12 arthritis 31 frequent (33%) HP:0001369
13 limitation of joint mobility 31 frequent (33%) HP:0001376
14 joint swelling 31 frequent (33%) HP:0001386
15 splenomegaly 31 occasional (7.5%) HP:0001744
16 anemia 31 occasional (7.5%) HP:0001903
17 malabsorption 31 occasional (7.5%) HP:0002024
18 gastrointestinal hemorrhage 31 occasional (7.5%) HP:0002239
19 hepatomegaly 31 occasional (7.5%) HP:0002240
20 scoliosis 31 occasional (7.5%) HP:0002650
21 bone pain 31 hallmark (90%) HP:0002653
22 osteomyelitis 31 hallmark (90%) HP:0002754
23 osteolysis 31 frequent (33%) HP:0002797
24 arthralgia 31 frequent (33%) HP:0002829
25 genu varum 31 occasional (7.5%) HP:0002970
26 abnormal cortical bone morphology 31 hallmark (90%) HP:0003103
27 peptic ulcer 31 occasional (7.5%) HP:0004398
28 abnormality of bone marrow cell morphology 31 occasional (7.5%) HP:0005561
29 abnormality of epiphysis morphology 31 hallmark (90%) HP:0005930
30 neoplasm of the skin 31 occasional (7.5%) HP:0008069
31 cutis gyrata of scalp 31 frequent (33%) HP:0010541
32 abnormal hair pattern 31 occasional (7.5%) HP:0010720
33 impaired temperature sensation 31 occasional (7.5%) HP:0010829
34 aseptic necrosis 31 occasional (7.5%) HP:0010885
35 abnormal hair quantity 31 frequent (33%) HP:0011362
36 cerebral palsy 31 occasional (7.5%) HP:0100021
37 neoplasm of the lung 31 occasional (7.5%) HP:0100526
38 clubbing of toes 31 frequent (33%) HP:0100760
39 small hand 31 occasional (7.5%) HP:0200055

UMLS symptoms related to Primary Hypertrophic Osteoarthropathy:


metatarsalgia, flushing, arthralgia

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

25 (show all 12)
# 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)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoricoxib Approved, Investigational Phase 3 202409-33-4 123619
2 Analgesics Phase 3
3 Analgesics, Non-Narcotic Phase 3
4 Anti-Inflammatory Agents Phase 3
5 Anti-Inflammatory Agents, Non-Steroidal Phase 3
6 Antirheumatic Agents Phase 3
7 Cyclooxygenase 2 Inhibitors Phase 3
8 Cyclooxygenase Inhibitors Phase 3
9 Peripheral Nervous System Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect Observation Study of COX-2 Inhibitor to Treat Primary Hypertrophic Osteoarthropathy Unknown status NCT02438709 Phase 3 COX-2 inhibitor

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:

# Genetic test Affiliating Genes
1 Pachydermoperiostosis Syndrome 28 HPGD

Anatomical Context for Primary Hypertrophic Osteoarthropathy

MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

38
Bone, Skin, Heart, Lung, Bone Marrow, Endothelial

Publications for Primary Hypertrophic Osteoarthropathy

Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50) (show all 74)
# Title Authors Year
1
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study. ( 28963081 )
2018
2
Effectiveness of non-steroidal anti-inflammatory drugs among patients with primary hypertrophic osteoarthropathy: A systematic review. ( 29305259 )
2017
3
Primary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly. ( 28469926 )
2017
4
Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy. ( 28339061 )
2017
5
Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention. ( 28425581 )
2017
6
A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family. ( 29282707 )
2017
7
Primary Hypertrophic Osteoarthropathy With SLCO2A1 Mutation in a Chinese Patient Successfully Treated With Etoricoxib. ( 29239930 )
2017
8
Primary hypertrophic osteoarthropathy: ultrasound and MRI findings. ( 26939972 )
2016
9
A novel homozygous mutation in the SLCO2 A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient. ( 25601417 )
2015
10
A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy. ( 26135126 )
2015
11
[Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy]. ( 25863089 )
2015
12
Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment. ( 26523041 )
2015
13
Primary hypertrophic osteoarthropathy with myelofibrosis and anemia: a case report and review of literature. ( 25785156 )
2015
14
Primary hypertrophic osteoarthropathy. ( 25255601 )
2014
15
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. ( 24533558 )
2014
16
Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy. ( 24185079 )
2014
17
Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. ( 25376961 )
2014
18
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
19
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. ( 23615836 )
2013
20
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization. ( 23509104 )
2013
21
A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy. ( 23531451 )
2013
22
Aberrant CD200/CD200R1 expression contributes to painful synovium hyperplasia in a patient with primary hypertrophic osteoarthropathy. ( 23595568 )
2013
23
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. ( 24153155 )
2013
24
Primary hypertrophic osteoarthropathy: an update. ( 23345113 )
2013
25
Primary hypertrophic osteoarthropathy (incomplete form) in young adults: a case report and review of literature. ( 23242097 )
2012
26
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. ( 22331663 )
2012
27
Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report. ( 22273836 )
2012
28
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. ( 22197487 )
2012
29
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. ( 22696055 )
2012
30
Primary hypertrophic osteoarthropathy. ( 21125281 )
2012
31
A primary hypertrophic osteoarthropathy or pachydermoperiostosis. ( 22828562 )
2012
32
Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity. ( 20889364 )
2011
33
Primary hypertrophic osteoarthropathy with gastric hypertrophy. ( 21532061 )
2011
34
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. ( 21426412 )
2011
35
Primary hypertrophic osteoarthropathy with hypertrophic gastropathy. ( 20511980 )
2010
36
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. ( 20299379 )
2010
37
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. ( 20406614 )
2010
38
Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case. ( 19881067 )
2009
39
Prostaglandin E2 and bone turnover markers in the evaluation of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. ( 19455364 )
2009
40
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. ( 19306095 )
2009
41
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. ( 18500342 )
2008
42
Primary hypertrophic osteoarthropathy with myelofibrosis. ( 18038138 )
2008
43
Ankylosing spondylitis in a patient with primary hypertrophic osteoarthropathy. ( 17551390 )
2007
44
Primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. ( 16969633 )
2007
45
Primary hypertrophic osteoarthropathy in a patient with rheumatoid arthritis. ( 17762468 )
2007
46
Primary hypertrophic osteoarthropathy with bilateral destructive hip arthritis. ( 16626991 )
2006
47
Palindromic rheumatism associated with primary hypertrophic osteoarthropathy. ( 17187097 )
2006
48
A family with a variant form of primary hypertrophic osteoarthropathy restricted to the lower extremities. ( 12814767 )
2003
49
Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease. ( 12365184 )
2002
50
Reactivation of primary hypertrophic osteoarthropathy by bronchogenic carcinoma. ( 11247336 )
2001

Variations for Primary Hypertrophic Osteoarthropathy

ClinVar genetic disease variations for Primary Hypertrophic Osteoarthropathy:

6
# 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:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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