PDP
MCID: PRM018
MIFTS: 56

Primary Hypertrophic Osteoarthropathy (PDP)

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

Aliases & Classifications for Primary Hypertrophic Osteoarthropathy

MalaCards integrated aliases for Primary Hypertrophic Osteoarthropathy:

Name: Primary Hypertrophic Osteoarthropathy 12 20 58 36 15
Pachydermoperiostosis 73 20 58 54
Idiopathic Hypertrophic Osteoarthropathy 20 58
Osteoarthropathy, Primary Hypertrophic 44 70
Pachydermoperiostosis Syndrome 12 29
Pdp 20 58
Touraine-Solente-Gole Syndrome 58
Touraine Solente Gole Syndrome 20
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:

Orphanet: 58  
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Primary Hypertrophic Osteoarthropathy

GARD : 20 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 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 and acroosteolysis, 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 Celecoxib Pathway, Pharmacodynamics. The drugs Etoricoxib and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung, and related phenotypes are hyperhidrosis and abnormal cortical bone morphology

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

Related Diseases for Primary Hypertrophic Osteoarthropathy

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 157)
# Related Disease Score Top Affiliating Genes
1 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 31.7 SLCO2A1 HPGD
2 acroosteolysis 30.6 SLCO2A1 HPGD
3 secondary hypertrophic osteoarthropathy 30.5 SLCO2A1 HPGD
4 patent ductus arteriosus 1 29.4 SLCO2A1 SLC2A10 PTGER3 HPGD
5 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 11.7
6 pyruvate dehydrogenase phosphatase deficiency 11.3
7 hypertrophic osteoarthropathy, primary, autosomal dominant 11.0
8 cutis verticis gyrata 10.6
9 psoriatic arthritis 10.4
10 fissured tongue 10.4
11 skin disease 10.4
12 seborrheic dermatitis 10.4
13 arthropathy 10.3
14 periostitis 10.3
15 myelofibrosis 10.3
16 gastritis 10.3
17 ptosis 10.2
18 crohn's disease 10.2
19 scleroderma, familial progressive 10.1
20 deficiency anemia 10.1
21 biliary atresia 10.1
22 hyperostosis 10.1
23 pulmonary fibrosis 10.1
24 hypokalemia 10.1
25 liver cirrhosis 10.1
26 juvenile rheumatoid arthritis 10.1
27 digital clubbing, isolated congenital 10.0
28 dermatitis, atopic 10.0
29 rosai-dorfman disease 10.0
30 osteoporosis 10.0
31 bone mineral density quantitative trait locus 8 10.0
32 bone mineral density quantitative trait locus 15 10.0
33 erythrokeratoderma ''en cocardes'' 10.0
34 rare genetic skin disease 10.0
35 spondyloarthropathy 1 10.0
36 hypervitaminosis a 10.0
37 calvarial hyperostosis 10.0
38 inflammatory bowel disease 10.0
39 scoliosis 10.0
40 bone disease 10.0
41 bone resorption disease 10.0
42 osteonecrosis 10.0
43 osteomyelitis 10.0
44 glucose intolerance 10.0
45 gastric ulcer 10.0
46 palindromic rheumatism 10.0
47 iron deficiency anemia 10.0
48 inflammatory spondylopathy 10.0
49 plica syndrome 10.0
50 keratosis 10.0

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:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
2 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
3 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
4 seborrheic dermatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001051
5 osteomyelitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002754
6 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
7 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
8 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
9 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
10 acne 58 31 frequent (33%) Frequent (79-30%) HP:0001061
11 abnormal fingernail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001231
12 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
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 osteolysis 58 31 frequent (33%) Frequent (79-30%) HP:0002797
18 cutis gyrata of scalp 58 31 frequent (33%) Frequent (79-30%) HP:0010541
19 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
20 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
21 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
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 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
27 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
28 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
29 peptic ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0004398
30 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000771
31 genu varum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002970
32 small hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0200055
33 cerebral palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100021
34 neoplasm of the lung 58 31 occasional (7.5%) Occasional (29-5%) HP:0100526
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 thickened skin 58 Very frequent (99-80%)
41 edema 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 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.58 PTGER3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.58 ERF PTGER3 SLCO4A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.58 PTGER3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.58 PTGER3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.58 ERF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.58 SLCO4A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-206 9.58 PTGER3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.58 PTGER3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.58 SLCO4A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.58 ERF
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.58 PTGER3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.58 ERF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.58 SLCO4A1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.58 ERF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.58 SLCO4A1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.58 ERF

MGI Mouse Phenotypes related to Primary Hypertrophic Osteoarthropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 ERF HPGD KDM4D PTGER3 PTGES SLC17A5
2 renal/urinary system MP:0005367 9.02 ERF PTGER3 SLC2A10 SLC6A19 SLCO2A1

Drugs & Therapeutics for Primary Hypertrophic Osteoarthropathy

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 Antirheumatic Agents Phase 3
6 Cyclooxygenase Inhibitors Phase 3
7 Anti-Inflammatory 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

Genetic Tests for Primary Hypertrophic Osteoarthropathy

Genetic tests related to Primary Hypertrophic Osteoarthropathy:

# Genetic test Affiliating Genes
1 Pachydermoperiostosis Syndrome 29

Anatomical Context for Primary Hypertrophic Osteoarthropathy

MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

40
Bone, Bone Marrow, Lung, Skin, Spinal Cord, Endothelial, Tongue

Publications for Primary Hypertrophic Osteoarthropathy

Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50) (show all 477)
# Title Authors PMID Year
1
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families. 61 6
32282352 2020
2
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. 61 6
24533558 2015
3
Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up. 61 6
24816859 2014
4
The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene. 61 6
24929850 2014
5
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. 61 6
24153155 2013
6
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis. 61 6
22906430 2012
7
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. 61 6
22553128 2012
8
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. 61 6
22331663 2012
9
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. 61 6
22197487 2012
10
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. 61 6
19306095 2009
11
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. 6 61
18500342 2008
12
Pachydermoperiostosis-critical analysis with report of five unusual cases. 6 61
17285282 2007
13
Cranio-osteoarthropathy in sibs. 6 61
17551338 2007
14
Pachydermoperiostosis: an update. 61 6
16283874 2005
15
Pachydermoperiostosis in childhood. 6 61
9402870 1997
16
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. 54 61
20299379 2010
17
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. 61 54
20406614 2010
18
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing. 61 54
19568269 2009
19
SLCO2A1 gene is the causal gene for both primary hypertrophic osteoarthropathy and hereditary chronic enteropathy. 61
33575166 2021
20
Establishment of a novel human iPSC line (SDQLCHi032-A) derived from a patient with primary hypertrophic osteoarthropathy caused by HPGD homozygous mutation. 61
33550138 2021
21
Pachydermoperiostosis Presenting With Vision Loss Secondary to Severe Phlyctenular Keratoconjunctivitis. 61
33758137 2021
22
Rare gastric manifestations in primary pachydermoperiostosis. 61
33555339 2021
23
Frontal lifting using a tissue expander in pachydermoperiostosis: A case report. 61
33505684 2021
24
Recent advances in studies of SLCO2A1 as a key regulator of the delivery of prostaglandins to their sites of action. 61
33465398 2021
25
[Clinical and genetic characteristics of patients with chronic enteropathy associated with SLCO2A1 gene]. 61
33397021 2021
26
Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1. 61
33308032 2021
27
Incomplete Pachydermoperiostosis Associated With Excessive Alcohol Intake. 61
31295153 2020
28
[Primary hypertrophic osteoarthropathy with renal hypokalemia: a case report]. 61
32838506 2020
29
Diagnosis and Management of a Patient With Primary Hypertrophic Osteoarthropathy With SCLO2A1 Pathogenic Variants in Vietnam. 61
32833909 2020
30
Paravertebral extramedullary haemopoiesis in a patient with pachydermoperiostosis. 61
32266716 2020
31
Pachydermoperiostosis: Classic Presentation of a Rare Disease. 61
32676559 2020
32
Incomplete primary hypertrophic osteoarthropathy. 61
32404375 2020
33
Characteristic Facial Appearance Was the Key to Diagnosing Chronic Enteropathy Associated with <i>SLCO2A1</i>-associated Primary Hypertrophic Osteoarthropathy. 61
31611528 2020
34
Pachydermoperiostosis mimicking the acral abnormalities of acromegaly. 61
31916215 2020
35
Complete form of pachydermoperiostosis. 61
31889594 2020
36
Characterization of Mineral and Bone Metabolism Biomarkers in a Chinese Consanguineous Twin Family with Primary Hypertrophic Osteoarthropathy. 61
33343660 2020
37
Impaired bone microarchitecture in distal interphalangeal joints in patients with primary hypertrophic osteoarthropathy assessed by high-resolution peripheral quantitative computed tomography. 61
31646353 2020
38
Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis. 61
33328413 2020
39
Pachydermoperiostosis: A clinicopathological description. 61
31844800 2019
40
Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature. 61
31878983 2019
41
Pachydermoperiostosis Associated with Myelofibrosis: A Rare Case Report. 61
31896854 2019
42
A case of primary hypertrophic osteoarthropathy: Management considerations. 61
31647173 2019
43
A novel mutation in the SLCO2A1 gene in a Chinese family with pachydermoperiostosis. 61
30931527 2019
44
Complete form of pachydermoperiostosis with cutis verticis gyrata resulting from the SLCO2A1 gene mutation. 61
30880718 2019
45
Novel SLCO2A1compound heterozygous mutation causing primary hypertrophic osteoarthropathy with Bartter-like hypokalemia in a Chinese family. 61
31004291 2019
46
Touraine-Solente-Gole syndrome: Clinical manifestation with bilateral true eyelid ptosis. 61
32158879 2019
47
Bisphosphonates use in Pachydermoperiostosis. 61
31561698 2019
48
Safety and efficacy of cyclooxygenase-2 inhibition for treatment of primary hypertrophic osteoarthropathy: A single-arm intervention trial. 61
31508314 2019
49
The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation. 61
31063976 2019
50
Inflammatory variant of pachydermoperiostosis responding to methotrexate: a report of two cases. 61
31007935 2019

Variations for Primary Hypertrophic Osteoarthropathy

ClinVar genetic disease variations for Primary Hypertrophic Osteoarthropathy:

6 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HPGD NM_000860.6(HPGD):c.232_241delinsCA (p.Val78fs) Indel Pathogenic 7918 rs587776676 GRCh37: 4:175439205-175439214
GRCh38: 4:174518054-174518063
2 HPGD NM_000860.6(HPGD):c.173_174CT[1] (p.Leu59fs) Microsatellite Pathogenic 7919 rs548208942 GRCh37: 4:175443136-175443137
GRCh38: 4:174521985-174521986
3 SLCO2A1 NM_005630.3(SLCO2A1):c.97-1G>A SNV Pathogenic 30186 rs1559943990 GRCh37: 3:133698463-133698463
GRCh38: 3:133979619-133979619
4 SLCO2A1 NM_005630.3(SLCO2A1):c.764G>A (p.Gly255Glu) SNV Pathogenic 30187 rs387906806 GRCh37: 3:133670149-133670149
GRCh38: 3:133951305-133951305
5 SLCO2A1 NM_005630.3(SLCO2A1):c.1634del (p.Asn545fs) Deletion Pathogenic 30188 rs1559927542 GRCh37: 3:133657329-133657329
GRCh38: 3:133938485-133938485
6 SLCO2A1 NM_005630.3(SLCO2A1):c.830dup (p.Phe278fs) Duplication Pathogenic 37167 rs751192029 GRCh37: 3:133670082-133670083
GRCh38: 3:133951238-133951239
7 SLCO2A1 NM_005630.3(SLCO2A1):c.1259G>T (p.Cys420Phe) SNV Pathogenic 37169 rs387907295 GRCh37: 3:133666136-133666136
GRCh38: 3:133947292-133947292
8 SLCO2A1 NM_005630.3(SLCO2A1):c.253A>T (p.Ile85Phe) SNV Pathogenic 37170 rs387907296 GRCh37: 3:133692651-133692651
GRCh38: 3:133973807-133973807
9 SLCO2A1 NM_005630.3(SLCO2A1):c.310G>T (p.Gly104Ter) SNV Pathogenic 37171 rs387907297 GRCh37: 3:133692594-133692594
GRCh38: 3:133973750-133973750
10 HPGD NM_000860.6(HPGD):c.418G>C (p.Ala140Pro) SNV Pathogenic 7917 rs121434480 GRCh37: 4:175429850-175429850
GRCh38: 4:174508699-174508699
11 HPGD NM_000860.6(HPGD):c.1A>T (p.Met1Leu) SNV Pathogenic 156026 rs577045722 GRCh37: 4:175443602-175443602
GRCh38: 4:174522451-174522451
12 HPGD NM_000860.6(HPGD):c.308_309CT[1] (p.Leu104fs) Microsatellite Pathogenic 156027 rs587777719 GRCh37: 4:175439135-175439136
GRCh38: 4:174517984-174517985
13 SLCO2A1 NM_005630.3(SLCO2A1):c.664G>A (p.Gly222Arg) SNV Pathogenic 438675 rs774795340 GRCh37: 3:133672567-133672567
GRCh38: 3:133953723-133953723
14 HPGD NM_000860.6(HPGD):c.34G>A (p.Gly12Ser) SNV Pathogenic 973741 GRCh37: 4:175443569-175443569
GRCh38: 4:174522418-174522418
15 HPGD NM_000860.6(HPGD):c.313C>T (p.Gln105Ter) SNV Pathogenic 973742 GRCh37: 4:175439133-175439133
GRCh38: 4:174517982-174517982
16 SLCO2A1 NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter) SNV Pathogenic 225477 rs776813259 GRCh37: 3:133654625-133654625
GRCh38: 3:133935781-133935781
17 SLCO2A1 NM_005630.3(SLCO2A1):c.940+1G>A SNV Pathogenic 225478 rs765249238 GRCh37: 3:133667736-133667736
GRCh38: 3:133948892-133948892
18 SLCO2A1 NM_005630.3(SLCO2A1):c.830del (p.Phe277fs) Deletion Pathogenic 977938 GRCh37: 3:133670083-133670083
GRCh38: 3:133951239-133951239
19 HPGD NM_000860.6(HPGD):c.307del (p.Thr103fs) Deletion Pathogenic 1032480 GRCh37: 4:175439139-175439139
GRCh38: 4:174517988-174517988
20 SLCO2A1 NM_005630.3(SLCO2A1):c.1931G>C (p.Ter644Ser) SNV Pathogenic 1033018 GRCh37: 3:133653558-133653558
GRCh38: 3:133934714-133934714
21 SLCO2A1 NM_005630.3(SLCO2A1):c.290G>A (p.Arg97His) SNV Likely pathogenic 931465 GRCh37: 3:133692614-133692614
GRCh38: 3:133973770-133973770
22 SLCO2A1 NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg) SNV Likely pathogenic 977939 GRCh37: 3:133673888-133673888
GRCh38: 3:133955044-133955044
23 SLCO2A1 NM_005630.3(SLCO2A1):c.1279_1290del (p.Glu427_Pro430del) Deletion Likely pathogenic 225479 rs1085307096 GRCh37: 3:133666105-133666116
GRCh38: 3:133947261-133947272
24 SLCO2A1 NM_005630.3(SLCO2A1):c.1524del (p.Val509fs) Deletion Likely pathogenic 977936 GRCh37: 3:133661550-133661550
GRCh38: 3:133942706-133942706
25 HPGD NM_000860.6(HPGD):c.446C>G (p.Pro149Arg) SNV Likely pathogenic 599096 rs375335006 GRCh37: 4:175416751-175416751
GRCh38: 4:174495600-174495600
26 SLCO2A1 NM_005630.3(SLCO2A1):c.86del (p.Gly29fs) Deletion Likely pathogenic 829873 rs1576467025 GRCh37: 3:133748561-133748561
GRCh38: 3:134029717-134029717
27 SLCO2A1 NM_005630.3(SLCO2A1):c.1106-1G>C SNV Likely pathogenic 829878 rs1576428882 GRCh37: 3:133666290-133666290
GRCh38: 3:133947446-133947446
28 HPGD NM_000860.6(HPGD):c.*1594A>G SNV Uncertain significance 899800 GRCh37: 4:175411513-175411513
GRCh38: 4:174490362-174490362
29 HPGD NM_000860.6(HPGD):c.*819T>C SNV Uncertain significance 899858 GRCh37: 4:175412288-175412288
GRCh38: 4:174491137-174491137
30 HPGD NM_000860.6(HPGD):c.397A>G (p.Ile133Val) SNV Uncertain significance 900187 GRCh37: 4:175429871-175429871
GRCh38: 4:174508720-174508720
31 HPGD NM_000860.6(HPGD):c.*1450C>T SNV Uncertain significance 900962 GRCh37: 4:175411657-175411657
GRCh38: 4:174490506-174490506
32 HPGD NM_000860.6(HPGD):c.*709A>C SNV Uncertain significance 899859 GRCh37: 4:175412398-175412398
GRCh38: 4:174491247-174491247
33 HPGD NM_000860.6(HPGD):c.*648A>T SNV Uncertain significance 901032 GRCh37: 4:175412459-175412459
GRCh38: 4:174491308-174491308
34 HPGD NM_000860.6(HPGD):c.*41A>G SNV Uncertain significance 899919 GRCh37: 4:175413066-175413066
GRCh38: 4:174491915-174491915
35 HPGD NM_000860.6(HPGD):c.721G>A (p.Ala241Thr) SNV Uncertain significance 901092 GRCh37: 4:175413187-175413187
GRCh38: 4:174492036-174492036
36 HPGD NM_000860.6(HPGD):c.*451A>G SNV Uncertain significance 901586 GRCh37: 4:175412656-175412656
GRCh38: 4:174491505-174491505
37 HPGD NM_000860.6(HPGD):c.606A>G (p.Gln202=) SNV Uncertain significance 796877 rs374385011 GRCh37: 4:175414358-175414358
GRCh38: 4:174493207-174493207
38 HPGD NM_000860.6(HPGD):c.501G>T (p.Leu167Phe) SNV Uncertain significance 901640 GRCh37: 4:175414463-175414463
GRCh38: 4:174493312-174493312
39 SLCO2A1 NM_005630.3(SLCO2A1):c.1333C>T (p.Arg445Cys) SNV Uncertain significance 774302 rs146970901 GRCh37: 3:133664067-133664067
GRCh38: 3:133945223-133945223
40 HPGD NM_000860.6(HPGD):c.*1556C>T SNV Uncertain significance 348173 rs886059244 GRCh37: 4:175411551-175411551
GRCh38: 4:174490400-174490400
41 HPGD NM_001256301.1(HPGD):c.-319G>A SNV Uncertain significance 348209 rs116796476 GRCh37: 4:175443823-175443823
GRCh38: 4:174522672-174522672
42 HPGD NM_000860.6(HPGD):c.*248A>G SNV Uncertain significance 348192 rs886059251 GRCh37: 4:175412859-175412859
GRCh38: 4:174491708-174491708
43 HPGD NM_000860.6(HPGD):c.*941C>T SNV Uncertain significance 348183 rs886059247 GRCh37: 4:175412166-175412166
GRCh38: 4:174491015-174491015
44 HPGD NM_000860.6(HPGD):c.*510G>C SNV Uncertain significance 348190 rs886059250 GRCh37: 4:175412597-175412597
GRCh38: 4:174491446-174491446
45 HPGD NM_001256301.1(HPGD):c.-400C>T SNV Uncertain significance 348211 rs145977377 GRCh37: 4:175443904-175443904
GRCh38: 4:174522753-174522753
46 HPGD NM_000860.6(HPGD):c.*157A>G SNV Uncertain significance 348194 rs886059252 GRCh37: 4:175412950-175412950
GRCh38: 4:174491799-174491799
47 HPGD NM_000860.6(HPGD):c.*914A>G SNV Uncertain significance 348184 rs886059248 GRCh37: 4:175412193-175412193
GRCh38: 4:174491042-174491042
48 HPGD NM_001256301.1(HPGD):c.-271+17T>C SNV Uncertain significance 348207 rs552078994 GRCh37: 4:175443758-175443758
GRCh38: 4:174522607-174522607
49 HPGD NM_000860.6(HPGD):c.773C>A (p.Thr258Lys) SNV Uncertain significance 348199 rs886059254 GRCh37: 4:175413135-175413135
GRCh38: 4:174491984-174491984
50 HPGD NM_000860.6(HPGD):c.*968T>C SNV Uncertain significance 348182 rs530460934 GRCh37: 4:175412139-175412139
GRCh38: 4:174490988-174490988

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
Show member pathways
12.56 SLCO4A1 SLCO3A1 SLCO2A1 SLC6A19 SLC2A10 SLC17A5
2 11.13 PTGES PTGER3
3 10.8 PTGER3 HPGD
4 10.7 PTGES PTGER3
6 10.52 PTGES HPGD

GO Terms for Primary Hypertrophic Osteoarthropathy

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.56 SLCO4A1 SLCO3A1 SLCO2A1 SLC6A19 SLC2A10 SLC17A5
2 integral component of plasma membrane GO:0005887 9.17 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 9.62 SLCO4A1 SLCO3A1 SLCO2A1 SLC17A5
2 transmembrane transport GO:0055085 9.43 SLCO4A1 SLCO3A1 SLCO2A1 SLC6A19 SLC2A10 SLC17A5
3 amino acid transport GO:0006865 9.37 SLC6A19 SLC17A5
4 prostaglandin metabolic process GO:0006693 9.26 PTGES HPGD
5 prostaglandin transport GO:0015732 9.16 SLCO3A1 SLCO2A1
6 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 transmembrane transporter activity GO:0022857 9.46 SLCO4A1 SLCO2A1 SLC2A10 SLC17A5
2 prostaglandin E receptor activity GO:0004957 9.26 PTGER3 HPGD
3 carbohydrate:proton symporter activity GO:0005351 8.96 SLC2A10 SLC17A5
4 sodium-independent organic anion transmembrane transporter activity GO:0015347 8.8 SLCO4A1 SLCO3A1 SLCO2A1

Sources for Primary Hypertrophic Osteoarthropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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