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PDP
MCID: PRM018
MIFTS: 51

Primary Hypertrophic Osteoarthropathy (PDP)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Primary Hypertrophic Osteoarthropathy

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MalaCards integrated aliases for Primary Hypertrophic Osteoarthropathy:

Name: Primary Hypertrophic Osteoarthropathy 12 52 58 36 15
Pachydermoperiostosis 74 52 58 54
Idiopathic Hypertrophic Osteoarthropathy 52 58
Osteoarthropathy, Primary Hypertrophic 43 71
Pdp 52 58
Touraine-Solente-Gole Syndrome 58
Pachydermoperiostosis Syndrome 12
Touraine Solente Gole Syndrome 52
Pachydermoperiostosis of Nail 12
Pho 58

Characteristics:

Orphanet epidemiological data:

58
primary hypertrophic osteoarthropathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
pachydermoperiostosis
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Primary Hypertrophic Osteoarthropathy

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NIH Rare Diseases : 52 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.

MalaCards based summary : Primary Hypertrophic Osteoarthropathy, also known as pachydermoperiostosis, is related to acroosteolysis and secondary hypertrophic osteoarthropathy, and has symptoms including arthralgia, flushing and metatarsalgia. An important gene associated with Primary Hypertrophic Osteoarthropathy is SLCO2A1 (Solute Carrier Organic Anion Transporter Family Member 2A1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and DAG and IP3 signaling. The drugs Etoricoxib and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related phenotypes are abnormal cortical bone morphology and hyperhidrosis

KEGG : 36 Primary hypertrophic osteoarthropathy (PHO) is a familial disorder with delayed cranial suture closure, digital clubbing, arthropathy, acro-osteolysis, periostosis, and pachydermia. Mutations in HPGD gene and SLCO2A1 gene, which encodes 15-hydroxyprostaglandin dehydrogenase and prostaglandin transporter, were reported.

Wikipedia : 74 Pachydermoperiostosis (PDP) is a rare genetic disorder that affects both bones and skin. Other names are... more...

Sources

Related Diseases for Primary Hypertrophic Osteoarthropathy

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Diseases in the Primary Hypertrophic Osteoarthropathy family:

Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
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 top 50) (show all 175)
# Related Disease Score Top Affiliating Genes
1 acroosteolysis 30.6 SLCO2A1 HPGD
2 secondary hypertrophic osteoarthropathy 30.5 SLCO2A1 HPGD
3 patent ductus arteriosus 1 29.6 PTGER4 HPGD
4 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 12.4
5 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 12.3
6 pyruvate dehydrogenase phosphatase deficiency 11.9
7 hypertrophic osteoarthropathy, primary, autosomal dominant 11.6
8 cutis verticis gyrata 10.9
9 psoriatic arthritis 10.6
10 fissured tongue 10.6
11 skin disease 10.6
12 seborrheic dermatitis 10.6
13 arthropathy 10.3
14 periostitis 10.3
15 myelofibrosis 10.3
16 gastritis 10.3
17 influenza 10.2
18 48,xyyy 10.2
19 ataxia-telangiectasia 10.2
20 ataxia and polyneuropathy, adult-onset 10.2
21 telangiectasis 10.2
22 ptosis 10.2
23 helix syndrome 10.1
24 peritonitis 10.1
25 scleroderma, familial progressive 10.1
26 juvenile arthritis 10.1
27 deficiency anemia 10.1
28 inflammatory bowel disease 10.1
29 biliary atresia 10.1
30 hyperostosis 10.1
31 pulmonary fibrosis 10.1
32 liver cirrhosis 10.1
33 juvenile rheumatoid arthritis 10.1
34 arthritis 10.1
35 crohn's disease 10.1
36 osteoporosis 10.1
37 bone mineral density quantitative trait locus 8 10.1
38 bone mineral density quantitative trait locus 15 10.1
39 erythrokeratoderma ''en cocardes'' 10.1
40 rare genetic skin disease 10.1
41 acanthosis nigricans 10.0
42 endosteal hyperostosis, autosomal dominant 10.0
43 aneurysmal bone cysts 10.0 SLCO4A1 SLCO3A1
44 digital clubbing, isolated congenital 10.0
45 dermatitis, atopic 10.0
46 alzheimer disease 10.0
47 elliptocytosis 2 10.0
48 huntington disease 10.0
49 scoliosis, isolated 1 10.0
50 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0

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



Diseases related to Primary Hypertrophic Osteoarthropathy
Sources

Symptoms & Phenotypes for Primary Hypertrophic Osteoarthropathy

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Human phenotypes related to Primary Hypertrophic Osteoarthropathy:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
2 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
3 osteomyelitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002754
4 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
5 seborrheic dermatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001051
6 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
7 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
8 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
9 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
10 acne 58 31 frequent (33%) Frequent (79-30%) HP:0001061
11 osteolysis 58 31 frequent (33%) Frequent (79-30%) HP:0002797
12 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
13 joint swelling 58 31 frequent (33%) Frequent (79-30%) HP:0001386
14 clubbing of toes 58 31 frequent (33%) Frequent (79-30%) HP:0100760
15 abnormal hair quantity 58 31 frequent (33%) Frequent (79-30%) HP:0011362
16 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
17 cutis gyrata of scalp 58 31 frequent (33%) Frequent (79-30%) HP:0010541
18 abnormal fingernail morphology 31 frequent (33%) HP:0001231
19 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
20 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
21 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
22 avascular necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010885
23 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
24 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
25 palmoplantar keratoderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000982
26 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
27 neoplasm of the lung 58 31 occasional (7.5%) Occasional (29-5%) HP:0100526
28 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
29 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
30 peptic ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0004398
31 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
32 genu varum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002970
33 small hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0200055
34 cerebral palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100021
35 abnormal hair pattern 58 31 occasional (7.5%) Occasional (29-5%) HP:0010720
36 abnormality of bone marrow cell morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005561
37 growth hormone excess 58 31 occasional (7.5%) Occasional (29-5%) HP:0000845
38 impaired temperature sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0010829
39 eczematoid dermatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000976
40 edema 58 Frequent (79-30%)
41 thickened skin 58 Very frequent (99-80%)
42 abnormality of the fingernails 58 Frequent (79-30%)

UMLS symptoms related to Primary Hypertrophic Osteoarthropathy:


arthralgia, flushing, metatarsalgia

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

26 (show all 40)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10 PTGER1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10 PTGER3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10 SLC17A5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10 SLC17A5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10 SLC17A5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10 SLC17A5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10 SLC17A5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10 SLC17A5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10 ERF PTGER3 SLCO4A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10 PTGER1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10 PTGER3 PTGER1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10 PTGER3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-18 10 ERF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-181 10 SLCO4A1 PTGER1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10 SLC17A5
16 Increased shRNA abundance (Z-score > 2) GR00366-A-206 10 PTGER3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10 PTGER3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-216 10 SLCO4A1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10 PTGER1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10 PTGER1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10 ERF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-40 10 SLC17A5
23 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10 PTGER3
24 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10 ERF
25 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10 SLC17A5
26 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10 SLCO4A1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10 ERF
28 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10 SLC17A5
29 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10 SLCO4A1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10 ERF
31 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10 PTGER1
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 9.8 ERF
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.8 SLC17A5
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.8 ERF PTGER1 PTGER3
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 9.8 ERF
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.8 PTGER1
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.8 ERF PTGER1 PTGER3
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.8 PTGER3
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.8 ERF PTGER3
40 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.8 PTGER3

MGI Mouse Phenotypes related to Primary Hypertrophic Osteoarthropathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 ERF HPGD PTGER1 PTGER3 PTGER4 PTGES
2 homeostasis/metabolism MP:0005376 9.65 ERF HPGD PTGER1 PTGER3 PTGER4 PTGES
3 renal/urinary system MP:0005367 9.1 ERF PTGER1 PTGER3 SLC2A10 SLC6A19 SLCO2A1
Sources

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Application of COX-2 Inhibitor for Treatment of Primary Hypertrophic Osteoarthropathy Unknown status NCT02438709 Phase 3 COX-2 inhibitor
2 Protection of Autonomic Nervous System During Lower Spine Surgical Procedures: A Safety and Feasibility Study Unknown status NCT02873182

Search NIH Clinical Center for Primary Hypertrophic Osteoarthropathy

Cochrane evidence based reviews: osteoarthropathy, primary hypertrophic

Sources

Genetic Tests for Primary Hypertrophic Osteoarthropathy

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Sources

Anatomical Context for Primary Hypertrophic Osteoarthropathy

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MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

40
Bone, Skin, Heart, Lung, Bone Marrow, Brain, Spinal Cord
Sources

Publications for Primary Hypertrophic Osteoarthropathy

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Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50) (show all 462)
# Title Authors PMID Year
1
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. 6 61
24533558 2015
2
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. 6 61
22553128 2012
3
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. 6 61
22331663 2012
4
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. 6 61
22197487 2012
5
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. 61 6
19306095 2009
6
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. 6 61
18500342 2008
7
Pachydermoperiostosis-critical analysis with report of five unusual cases. 6 61
17285282 2007
8
Cranio-osteoarthropathy in sibs. 6 61
17551338 2007
9
Pachydermoperiostosis: an update. 61 6
16283874 2005
10
Pachydermoperiostosis in childhood. 61 6
9402870 1997
11
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. 54 61
20299379 2010
12
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. 54 61
20406614 2010
13
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing. 61 54
19568269 2009
14
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families. 61
32282352 2020
15
Incomplete primary hypertrophic osteoarthropathy. 61
32404375 2020
16
Paravertebral extramedullary haemopoiesis in a patient with pachydermoperiostosis. 61
32266716 2020
17
Pachydermoperiostosis mimicking the acral abnormalities of acromegaly. 61
31916215 2020
18
Characteristic Facial Appearance Was the Key to Diagnosing Chronic Enteropathy Associated with <i>SLCO2A1</i>-associated Primary Hypertrophic Osteoarthropathy. 61
31611528 2020
19
Impaired bone microarchitecture in distal interphalangeal joints in patients with primary hypertrophic osteoarthropathy assessed by high-resolution peripheral quantitative computed tomography. 61
31646353 2020
20
Complete form of pachydermoperiostosis. 61
31889594 2020
21
Pachydermoperiostosis: A clinicopathological description. 61
31844800 2019
22
Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature. 61
31878983 2019
23
Pachydermoperiostosis Associated with Myelofibrosis: A Rare Case Report. 61
31896854 2019
24
A case of primary hypertrophic osteoarthropathy: Management considerations. 61
31647173 2019
25
A novel mutation in the SLCO2A1 gene in a Chinese family with pachydermoperiostosis. 61
30931527 2019
26
Complete form of pachydermoperiostosis with cutis verticis gyrata resulting from the SLCO2A1 gene mutation. 61
30880718 2019
27
Novel SLCO2A1compound heterozygous mutation causing primary hypertrophic osteoarthropathy with Bartter-like hypokalemia in a Chinese family. 61
31004291 2019
28
Touraine-Solente-Gole syndrome: Clinical manifestation with bilateral true eyelid ptosis. 61
32158879 2019
29
Bisphosphonates use in Pachydermoperiostosis. 61
31561698 2019
30
Safety and efficacy of cyclooxygenase-2 inhibition for treatment of primary hypertrophic osteoarthropathy: A single-arm intervention trial. 61
31508314 2019
31
Incomplete Pachydermoperiostosis Associated With Excessive Alcohol Intake. 61
31295153 2019
32
The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation. 61
31063976 2019
33
Feet Deformity and Gait Disturbance in a Patient with Pachydermoperiostosis (PDP). Case Study. 61
31180036 2019
34
Inflammatory variant of pachydermoperiostosis responding to methotrexate: a report of two cases. 61
31007935 2019
35
Successful treatment of pachydermoperiostosis with etoricoxib in a patient with a homozygous splice-site mutation in the SLCO2A1 gene. 61
26875533 2019
36
Complete primary pachydermoperiostosis: A case report from Jordan and review of literature. 61
30847204 2019
37
Pachydermoperiostosis (Touraine-Solente-Gole syndrome): a case report. 61
30786934 2019
38
Infectious versus non-infectious causes of oligoarticular inflammatory arthritis: A prospective study from a tertiary care hospital in north India. 61
31080209 2019
39
Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings. 61
31203270 2019
40
Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients. 61
30292630 2018
41
Clubbing and pachydermoperiostosis. 61
29931240 2018
42
Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn's disease. 61
29313109 2018
43
Novel SLCO2A1 mutations cause gender differentiated pachydermoperiostosis. 61
30352415 2018
44
Primary hypertrophic osteoarthropathy: Report of two novel genetic variants in the SLCO2A1 gene in two Mexican patients. 61
29770782 2018
45
Comprehensive Surgical Strategies for the Management of Pachydermoperiostosis. 61
29763941 2018
46
Pachydermoperiostosis Mimicking Acromegaly: A Case Report. 61
29854639 2018
47
A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family. 61
29282707 2018
48
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment. 61
29681086 2018
49
Hypertrophic osteoarthropathy mimicking a reactive arthritis: a case report and review of the literature. 61
29759083 2018
50
Touraine-Solente-Gole syndrome. 61
29040027 2018
Sources

Variations for Primary Hypertrophic Osteoarthropathy

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Expression for Primary Hypertrophic Osteoarthropathy

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

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

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 12.97 SLCO4A1 SLCO3A1 SLCO2A1 SLC6A19 SLC2A10 SLC17A5
2
DAG and IP3 signaling 65
Show member pathways
 12.65 SLCO2A1 PTGES PTGER4 PTGER3
4
Celecoxib Pathway, Pharmacodynamics 60
11.22 PTGES PTGER4 PTGER3 PTGER1
5
Eicosanoid ligand-binding receptors 65
Show member pathways
 11.11 PTGER4 PTGER3 PTGER1
6
Prostaglandin 2 biosynthesis and metabolism FM 22
10.77 PTGES HPGD
7
Prostaglandin Synthesis and Regulation 1
10.73 PTGER4 PTGER3 PTGER1 HPGD
8
Ibuprofen Pathway, Pharmacodynamics 60
10.37 PTGES PTGER4 PTGER3 PTGER1
Sources

GO Terms for Primary Hypertrophic Osteoarthropathy

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Cellular components related to Primary Hypertrophic Osteoarthropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.96 SLCO4A1 SLCO3A1 SLCO2A1 SLC6A19 SLC2A10 SLC17A5
2 plasma membrane GO:0005886 9.81 SLCO4A1 SLCO3A1 SLCO2A1 SLC6A19 SLC2A10 SLC17A5
3 integral component of membrane GO:0016021 9.65 SLCO4A1 SLCO3A1 SLCO2A1 SLC6A19 SLC2A10 SLC17A5
4 integral component of plasma membrane GO:0005887 9.23 SLCO4A1 SLCO3A1 SLCO2A1 SLC6A19 SLC2A10 SLC17A5

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.73 SLCO4A1 SLCO3A1 SLCO2A1 SLC17A5
2 response to lipopolysaccharide GO:0032496 9.56 PTGES PTGER4 PTGER1 HPGD
3 positive regulation of cytosolic calcium ion concentration GO:0007204 9.54 PTGER4 PTGER3 PTGER1
4 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.5 PTGER4 PTGER3 PTGER1
5 amino acid transport GO:0006865 9.46 SLC6A19 SLC17A5
6 transmembrane transport GO:0055085 9.43 SLCO4A1 SLCO3A1 SLCO2A1 SLC6A19 SLC2A10 SLC17A5
7 prostaglandin metabolic process GO:0006693 9.4 PTGES HPGD
8 prostaglandin transport GO:0015732 9.16 SLCO3A1 SLCO2A1
9 sodium-independent organic anion transport GO:0043252 8.8 SLCO4A1 SLCO3A1 SLCO2A1

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

# Name GO ID Score Top Affiliating Genes
1 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.33 SLCO4A1 SLCO3A1 SLCO2A1
2 carbohydrate:proton symporter activity GO:0005351 9.26 SLC2A10 SLC17A5
3 prostaglandin receptor activity GO:0004955 9.13 PTGER4 PTGER3 PTGER1
4 prostaglandin E receptor activity GO:0004957 8.92 PTGER4 PTGER3 PTGER1 HPGD
Sources

Sources for Primary Hypertrophic Osteoarthropathy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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