PDP
MCID: PRM018
MIFTS: 45

Primary Hypertrophic Osteoarthropathy (PDP)

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

Aliases & Classifications for Primary Hypertrophic Osteoarthropathy

MalaCards integrated aliases for Primary Hypertrophic Osteoarthropathy:

Name: Primary Hypertrophic Osteoarthropathy 12 53 37 15
Pachydermoperiostosis Syndrome 12 29 6
Pachydermoperiostosis 76 53 55
Osteoarthropathy, Primary Hypertrophic 44 73
Idiopathic Hypertrophic Osteoarthropathy 53
Touraine Solente Gole Syndrome 53
Pachydermoperiostosis of Nail 12
Pdp 53

Classifications:



Summaries for Primary Hypertrophic Osteoarthropathy

NIH Rare Diseases : 53 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 syndrome, is related to acroosteolysis and hypertrophic osteoarthropathy, primary, autosomal recessive, 1, and has symptoms including arthralgia, flushing and metatarsalgia. An important gene associated with Primary Hypertrophic Osteoarthropathy is HPGD (15-Hydroxyprostaglandin Dehydrogenase), and among its related pathways/superpathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Microglia Activation During Neuroinflammation: Steady-State Microglia. The drugs Etoricoxib and Anti-Inflammatory Agents, Non-Steroidal have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related phenotypes are abnormality of epiphysis morphology and ptosis

Wikipedia : 76 Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder... 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 all 44)
# Related Disease Score Top Affiliating Genes
1 acroosteolysis 30.0 HPGD SLCO2A1
2 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 12.2
3 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 12.0
4 reginato shiapachasse syndrome 11.4
5 hypertrophic osteoarthropathy, primary, autosomal dominant 11.1
6 pyruvate dehydrogenase phosphatase deficiency 11.0
7 scleroderma, familial progressive 10.1
8 myelofibrosis 10.1
9 arthritis 10.1
10 popliteal pterygium syndrome 10.1
11 obstructive nephropathy 10.1
12 acanthosis nigricans 10.0
13 osteoporosis 10.0
14 hypertrichosis 10.0
15 cutis verticis gyrata 10.0
16 spondyloarthropathy 1 10.0
17 rheumatoid arthritis 10.0
18 patent ductus arteriosus 1 10.0
19 crohn's disease 10.0
20 osteonecrosis 10.0
21 ptosis 10.0
22 palindromic rheumatism 10.0
23 acromegaly 10.0
24 spondylitis 10.0
25 hernia, hiatus 9.9
26 hepatitis 9.9
27 hepatitis b 9.9
28 skin disease 9.9
29 wrinkles 9.9
30 secondary hypertrophic osteoarthropathy 9.9
31 protein-losing enteropathy 9.9
32 chondrocalcinosis 9.9
33 infant gynecomastia 9.9
34 synostosis 9.9
35 gynecomastia 9.9
36 skin epithelioid hemangioma 9.9
37 folliculitis 9.9
38 histiocytoid hemangioma 9.9
39 amyloidosis 9.9
40 viral infectious disease 9.9
41 angiomatous lymphoid hamartoma 9.9
42 tufted hair folliculitis 9.9
43 hydromyelia 9.9
44 monosomy 22 9.9

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

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 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 Anti-Inflammatory Agents, Non-Steroidal Phase 3
3 Analgesics Phase 3
4 Analgesics, Non-Narcotic Phase 3
5 Cyclooxygenase 2 Inhibitors Phase 3
6 Peripheral Nervous System Agents Phase 3
7 Cyclooxygenase Inhibitors Phase 3
8 Antirheumatic Agents Phase 3
9 Anti-Inflammatory 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 29 HPGD

Anatomical Context for Primary Hypertrophic Osteoarthropathy

MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

41
Bone, Skin, Heart, Lung, Bone Marrow, Endothelial

Publications for Primary Hypertrophic Osteoarthropathy

Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50) (show all 81)
# Title Authors Year
1
Incomplete form of Primary Hypertrophic Osteoarthropathy (Touraine-Solente-Gole Syndrome) Masquerading as Polyartrhalgia Diagnosed in Technetium-99m-Methylene Diphosphonate Scintigraphy: An Interesting Case Report. ( 29643673 )
2018
2
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
3
Primary hypertrophic osteoarthropathy: Report of two novel genetic variants in the <i>SLCO2A1</i> gene in two Mexican patients. ( 29770782 )
2018
4
Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients. ( 30292630 )
2018
5
Effectiveness of non-steroidal anti-inflammatory drugs among patients with primary hypertrophic osteoarthropathy: A systematic review. ( 29305259 )
2017
6
Primary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly. ( 28469926 )
2017
7
Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy. ( 28339061 )
2017
8
Primary Hypertrophic Osteoarthropathy With SLCO2A1 Mutation in a Chinese Patient Successfully Treated With Etoricoxib. ( 29239930 )
2017
9
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
10
A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family. ( 29282707 )
2017
11
[Genetic analysis of a pedigree with primary hypertrophic osteoarthropathy]. ( 28253600 )
2017
12
Primary hypertrophic osteoarthropathy: ultrasound and MRI findings. ( 26939972 )
2016
13
[Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy]. ( 25863089 )
2015
14
A novel homozygous mutation in the SLCO2 A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient. ( 25601417 )
2015
15
Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment. ( 26523041 )
2015
16
Primary hypertrophic osteoarthropathy with myelofibrosis and anemia: a case report and review of literature. ( 25785156 )
2015
17
A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy. ( 26135126 )
2015
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. ( 24533558 )
2014
20
Primary hypertrophic osteoarthropathy. ( 25255601 )
2014
21
Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy. ( 24185079 )
2014
22
Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. ( 25376961 )
2014
23
Primary hypertrophic osteoarthropathy: an update. ( 23345113 )
2013
24
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization. ( 23509104 )
2013
25
A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy. ( 23531451 )
2013
26
Aberrant CD200/CD200R1 expression contributes to painful synovium hyperplasia in a patient with primary hypertrophic osteoarthropathy. ( 23595568 )
2013
27
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. ( 24153155 )
2013
28
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. ( 23615836 )
2013
29
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. ( 22197487 )
2012
30
A primary hypertrophic osteoarthropathy or pachydermoperiostosis. ( 22828562 )
2012
31
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. ( 22696055 )
2012
32
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. ( 22331663 )
2012
33
Primary hypertrophic osteoarthropathy. ( 21125281 )
2012
34
Primary hypertrophic osteoarthropathy (incomplete form) in young adults: a case report and review of literature. ( 23242097 )
2012
35
Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report. ( 22273836 )
2012
36
Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity. ( 20889364 )
2011
37
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. ( 21426412 )
2011
38
Primary hypertrophic osteoarthropathy with gastric hypertrophy. ( 21532061 )
2011
39
Primary hypertrophic osteoarthropathy with hypertrophic gastropathy. ( 20511980 )
2010
40
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. ( 20299379 )
2010
41
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. ( 20406614 )
2010
42
Prostaglandin E2 and bone turnover markers in the evaluation of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. ( 19455364 )
2009
43
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. ( 19306095 )
2009
44
Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case. ( 19881067 )
2009
45
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. ( 18500342 )
2008
46
Primary hypertrophic osteoarthropathy with myelofibrosis. ( 18038138 )
2008
47
Ankylosing spondylitis in a patient with primary hypertrophic osteoarthropathy. ( 17551390 )
2007
48
[Correction of finger clubbing in primary hypertrophic osteoarthropathy (Touraine-Solente-Gole syndrome)]. ( 17497611 )
2007
49
Primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. ( 16969633 )
2007
50
Primary hypertrophic osteoarthropathy in a patient with rheumatoid arthritis. ( 17762468 )
2007

Variations for Primary Hypertrophic Osteoarthropathy

ClinVar genetic disease variations for Primary Hypertrophic Osteoarthropathy:

6 (show top 50) (show all 104)
# 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.418G> C (p.Ala140Pro) single nucleotide variant Pathogenic rs121434480 GRCh38 Chromosome 4, 174508699: 174508699
3 HPGD NM_000860.5(HPGD): c.232_241delGTTGTAGACCinsCA (p.Val78Glnfs) indel Pathogenic rs587776676 GRCh38 Chromosome 4, 174518054: 174518063
4 HPGD NM_000860.5(HPGD): c.232_241delGTTGTAGACCinsCA (p.Val78Glnfs) indel Pathogenic rs587776676 GRCh37 Chromosome 4, 175439205: 175439214
5 HPGD NM_000860.5(HPGD): c.175_176delCT (p.Leu59Valfs) deletion Pathogenic rs548208942 GRCh37 Chromosome 4, 175443136: 175443137
6 HPGD NM_000860.5(HPGD): c.175_176delCT (p.Leu59Valfs) deletion Pathogenic rs548208942 GRCh38 Chromosome 4, 174521985: 174521986
7 HPGD NM_000860.5(HPGD): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs577045722 GRCh38 Chromosome 4, 174522451: 174522451
8 HPGD NM_000860.5(HPGD): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs577045722 GRCh37 Chromosome 4, 175443602: 175443602
9 HPGD NM_000860.5(HPGD): c.310_311delCT (p.Leu104Alafs) deletion Pathogenic rs587777719 GRCh37 Chromosome 4, 175439135: 175439136
10 HPGD NM_000860.5(HPGD): c.310_311delCT (p.Leu104Alafs) deletion Pathogenic rs587777719 GRCh38 Chromosome 4, 174517984: 174517985
11 HPGD NM_000860.5(HPGD): c.*1726C> T single nucleotide variant Benign rs2612691 GRCh38 Chromosome 4, 174490230: 174490230
12 HPGD NM_000860.5(HPGD): c.*1726C> T single nucleotide variant Benign rs2612691 GRCh37 Chromosome 4, 175411381: 175411381
13 HPGD NM_000860.5(HPGD): c.*1618A> T single nucleotide variant Uncertain significance rs886059242 GRCh38 Chromosome 4, 174490338: 174490338
14 HPGD NM_000860.5(HPGD): c.*1618A> T single nucleotide variant Uncertain significance rs886059242 GRCh37 Chromosome 4, 175411489: 175411489
15 HPGD NM_000860.5(HPGD): c.*1584A> G single nucleotide variant Uncertain significance rs886059243 GRCh38 Chromosome 4, 174490372: 174490372
16 HPGD NM_000860.5(HPGD): c.*1584A> G single nucleotide variant Uncertain significance rs886059243 GRCh37 Chromosome 4, 175411523: 175411523
17 HPGD NM_000860.5(HPGD): c.*1203A> C single nucleotide variant Uncertain significance rs766485728 GRCh38 Chromosome 4, 174490753: 174490753
18 HPGD NM_000860.5(HPGD): c.*1203A> C single nucleotide variant Uncertain significance rs766485728 GRCh37 Chromosome 4, 175411904: 175411904
19 HPGD NM_000860.5(HPGD): c.*941C> T single nucleotide variant Uncertain significance rs886059247 GRCh38 Chromosome 4, 174491015: 174491015
20 HPGD NM_000860.5(HPGD): c.*941C> T single nucleotide variant Uncertain significance rs886059247 GRCh37 Chromosome 4, 175412166: 175412166
21 HPGD NM_000860.5(HPGD): c.*798delA deletion Uncertain significance rs530867889 GRCh38 Chromosome 4, 174491158: 174491158
22 HPGD NM_000860.5(HPGD): c.*798delA deletion Uncertain significance rs530867889 GRCh37 Chromosome 4, 175412309: 175412309
23 HPGD NM_000860.5(HPGD): c.*207G> A single nucleotide variant Uncertain significance rs181290362 GRCh38 Chromosome 4, 174491749: 174491749
24 HPGD NM_000860.5(HPGD): c.*207G> A single nucleotide variant Uncertain significance rs181290362 GRCh37 Chromosome 4, 175412900: 175412900
25 HPGD NM_000860.5(HPGD): c.*132G> A single nucleotide variant Likely benign rs2253170 GRCh38 Chromosome 4, 174491824: 174491824
26 HPGD NM_000860.5(HPGD): c.*132G> A single nucleotide variant Likely benign rs2253170 GRCh37 Chromosome 4, 175412975: 175412975
27 HPGD NM_000860.5(HPGD): c.*54A> T single nucleotide variant Uncertain significance rs886059253 GRCh38 Chromosome 4, 174491902: 174491902
28 HPGD NM_000860.5(HPGD): c.*54A> T single nucleotide variant Uncertain significance rs886059253 GRCh37 Chromosome 4, 175413053: 175413053
29 HPGD NM_000860.5(HPGD): c.680A> G (p.Asn227Ser) single nucleotide variant Uncertain significance rs117270501 GRCh38 Chromosome 4, 174492077: 174492077
30 HPGD NM_000860.5(HPGD): c.680A> G (p.Asn227Ser) single nucleotide variant Uncertain significance rs117270501 GRCh37 Chromosome 4, 175413228: 175413228
31 HPGD NM_000860.5(HPGD): c.489C> T (p.Arg163=) single nucleotide variant Likely benign rs17060544 GRCh38 Chromosome 4, 174495557: 174495557
32 HPGD NM_000860.5(HPGD): c.489C> T (p.Arg163=) single nucleotide variant Likely benign rs17060544 GRCh37 Chromosome 4, 175416708: 175416708
33 HPGD NM_000860.5(HPGD): c.-221G> A single nucleotide variant Uncertain significance rs116796476 GRCh38 Chromosome 4, 174522672: 174522672
34 HPGD NM_000860.5(HPGD): c.-221G> A single nucleotide variant Uncertain significance rs116796476 GRCh37 Chromosome 4, 175443823: 175443823
35 HPGD NM_000860.5(HPGD): c.-235C> A single nucleotide variant Uncertain significance rs886059257 GRCh38 Chromosome 4, 174522686: 174522686
36 HPGD NM_000860.5(HPGD): c.-235C> A single nucleotide variant Uncertain significance rs886059257 GRCh37 Chromosome 4, 175443837: 175443837
37 HPGD NM_000860.5(HPGD): c.-353C> T single nucleotide variant Uncertain significance rs374745050 GRCh38 Chromosome 4, 174522804: 174522804
38 HPGD NM_000860.5(HPGD): c.-353C> T single nucleotide variant Uncertain significance rs374745050 GRCh37 Chromosome 4, 175443955: 175443955
39 HPGD NM_000860.5(HPGD): c.-404G> C single nucleotide variant Benign rs1346271 GRCh38 Chromosome 4, 174522855: 174522855
40 HPGD NM_000860.5(HPGD): c.-404G> C single nucleotide variant Benign rs1346271 GRCh37 Chromosome 4, 175444006: 175444006
41 HPGD NM_000860.5(HPGD): c.*1511A> G single nucleotide variant Uncertain significance rs539552730 GRCh38 Chromosome 4, 174490445: 174490445
42 HPGD NM_000860.5(HPGD): c.*1511A> G single nucleotide variant Uncertain significance rs539552730 GRCh37 Chromosome 4, 175411596: 175411596
43 HPGD NM_000860.5(HPGD): c.*679T> C single nucleotide variant Uncertain significance rs561424050 GRCh38 Chromosome 4, 174491277: 174491277
44 HPGD NM_000860.5(HPGD): c.*679T> C single nucleotide variant Uncertain significance rs561424050 GRCh37 Chromosome 4, 175412428: 175412428
45 HPGD NM_000860.5(HPGD): c.*510G> C single nucleotide variant Uncertain significance rs886059250 GRCh37 Chromosome 4, 175412597: 175412597
46 HPGD NM_000860.5(HPGD): c.*510G> C single nucleotide variant Uncertain significance rs886059250 GRCh38 Chromosome 4, 174491446: 174491446
47 HPGD NM_000860.5(HPGD): c.*87A> G single nucleotide variant Uncertain significance rs45522334 GRCh38 Chromosome 4, 174491869: 174491869
48 HPGD NM_000860.5(HPGD): c.*87A> G single nucleotide variant Uncertain significance rs45522334 GRCh37 Chromosome 4, 175413020: 175413020
49 HPGD NM_000860.5(HPGD): c.-123C> T single nucleotide variant Uncertain significance rs886059256 GRCh38 Chromosome 4, 174522574: 174522574
50 HPGD NM_000860.5(HPGD): c.-123C> T single nucleotide variant Uncertain significance rs886059256 GRCh37 Chromosome 4, 175443725: 175443725

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 11.09 CD200 CD200R1
2 10.28 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 9.48 CD200 CD200R1
2 response to lipopolysaccharide GO:0032496 9.46 DCN HPGD
3 kidney development GO:0001822 9.43 DCN HPGD
4 negative regulation of neuron death GO:1901215 9.4 CD200 CD200R1
5 heterotypic cell-cell adhesion GO:0034113 9.37 CD200 CD200R1
6 negative regulation of interleukin-6 secretion GO:1900165 9.32 CD200 CD200R1
7 negative regulation of macrophage migration GO:1905522 9.26 CD200 CD200R1
8 negative regulation of T cell migration GO:2000405 9.16 CD200 CD200R1
9 regulation of neuroinflammatory response GO:0150077 8.96 CD200 CD200R1
10 negative regulation of neuroinflammatory response GO:0150079 8.62 CD200 CD200R1

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

# Name GO ID Score Top Affiliating Genes
1 glycosylated region protein binding GO:0140081 8.62 CD200 CD200R1

Sources for Primary Hypertrophic Osteoarthropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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