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MCID: PRM018
MIFTS: 45

Primary Hypertrophic Osteoarthropathy

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

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33


Sources

Summaries for Primary Hypertrophic Osteoarthropathy

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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 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 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 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 coarse facial features and ptosis

Wikipedia : 76 Pachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder... 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 all 17)
# Related Disease Score Top Affiliating Genes
1 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 11.9
2 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 11.5
3 reginato shiapachasse syndrome 11.2
4 scleroderma, familial progressive 10.0
5 myelofibrosis 10.0
6 arthritis 10.0
7 spondyloarthropathy 1 9.8
8 rheumatoid arthritis 9.8
9 patent ductus arteriosus 1 9.8
10 crohn's disease 9.8
11 osteonecrosis 9.8
12 ptosis 9.8
13 palindromic rheumatism 9.8
14 acromegaly 9.8
15 spondylitis 9.8
16 endotheliitis 9.8
17 acroosteolysis 9.4 HPGD SLCO2A1

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:

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

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 DCN CD200R1
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 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

Sources

Genetic Tests for Primary Hypertrophic Osteoarthropathy

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Genetic tests related to Primary Hypertrophic Osteoarthropathy:

# Genetic test Affiliating Genes
1 Pachydermoperiostosis Syndrome 29 HPGD
Sources

Anatomical Context for Primary Hypertrophic Osteoarthropathy

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MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

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

Publications for Primary Hypertrophic Osteoarthropathy

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Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50) (show all 80)
# 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
Effectiveness of non-steroidal anti-inflammatory drugs among patients with primary hypertrophic osteoarthropathy: A systematic review. ( 29305259 )
2017
5
Primary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly. ( 28469926 )
2017
6
Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy. ( 28339061 )
2017
7
Primary Hypertrophic Osteoarthropathy With SLCO2A1 Mutation in a Chinese Patient Successfully Treated With Etoricoxib. ( 29239930 )
2017
8
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
9
A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family. ( 29282707 )
2017
10
[Genetic analysis of a pedigree with primary hypertrophic osteoarthropathy]. ( 28253600 )
2017
11
Primary hypertrophic osteoarthropathy: ultrasound and MRI findings. ( 26939972 )
2016
12
[Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy]. ( 25863089 )
2015
13
A novel homozygous mutation in the SLCO2 A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient. ( 25601417 )
2015
14
Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment. ( 26523041 )
2015
15
Primary hypertrophic osteoarthropathy with myelofibrosis and anemia: a case report and review of literature. ( 25785156 )
2015
16
A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy. ( 26135126 )
2015
17
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
18
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. ( 24533558 )
2014
19
Primary hypertrophic osteoarthropathy. ( 25255601 )
2014
20
Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy. ( 24185079 )
2014
21
Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. ( 25376961 )
2014
22
Primary hypertrophic osteoarthropathy: an update. ( 23345113 )
2013
23
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization. ( 23509104 )
2013
24
A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy. ( 23531451 )
2013
25
Aberrant CD200/CD200R1 expression contributes to painful synovium hyperplasia in a patient with primary hypertrophic osteoarthropathy. ( 23595568 )
2013
26
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. ( 24153155 )
2013
27
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. ( 23615836 )
2013
28
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. ( 22197487 )
2012
29
A primary hypertrophic osteoarthropathy or pachydermoperiostosis. ( 22828562 )
2012
30
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. ( 22696055 )
2012
31
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. ( 22331663 )
2012
32
Primary hypertrophic osteoarthropathy. ( 21125281 )
2012
33
Primary hypertrophic osteoarthropathy (incomplete form) in young adults: a case report and review of literature. ( 23242097 )
2012
34
Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report. ( 22273836 )
2012
35
Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity. ( 20889364 )
2011
36
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. ( 21426412 )
2011
37
Primary hypertrophic osteoarthropathy with gastric hypertrophy. ( 21532061 )
2011
38
Primary hypertrophic osteoarthropathy with hypertrophic gastropathy. ( 20511980 )
2010
39
Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. ( 20299379 )
2010
40
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. ( 20406614 )
2010
41
Prostaglandin E2 and bone turnover markers in the evaluation of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. ( 19455364 )
2009
42
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. ( 19306095 )
2009
43
Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case. ( 19881067 )
2009
44
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. ( 18500342 )
2008
45
Primary hypertrophic osteoarthropathy with myelofibrosis. ( 18038138 )
2008
46
Ankylosing spondylitis in a patient with primary hypertrophic osteoarthropathy. ( 17551390 )
2007
47
[Correction of finger clubbing in primary hypertrophic osteoarthropathy (Touraine-Solente-Gole syndrome)]. ( 17497611 )
2007
48
Primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. ( 16969633 )
2007
49
Primary hypertrophic osteoarthropathy in a patient with rheumatoid arthritis. ( 17762468 )
2007
50
Palindromic rheumatism associated with primary hypertrophic osteoarthropathy. ( 17187097 )
2006
Sources

Variations for Primary Hypertrophic Osteoarthropathy

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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
Sources

Expression for Primary Hypertrophic Osteoarthropathy

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

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
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell 66
10.75 CD200 CD200R1
Sources

GO Terms for Primary Hypertrophic Osteoarthropathy

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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
Sources

Sources for Primary Hypertrophic Osteoarthropathy

About this section
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
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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