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MCID: PRM018
MIFTS: 45

Primary Hypertrophic Osteoarthropathy

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin 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 54 38 15
Pachydermoperiostosis Syndrome 12 30 6
Pachydermoperiostosis 77 54 56
Osteoarthropathy, Primary Hypertrophic 45 74
Idiopathic Hypertrophic Osteoarthropathy 54
Touraine Solente Gole Syndrome 54
Pachydermoperiostosis of Nail 12
Pdp 54

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34


Sources

Summaries for Primary Hypertrophic Osteoarthropathy

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NIH Rare Diseases : 54 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, 2, 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 Peripheral Nervous System Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related phenotypes are abnormality of epiphysis morphology and hyperhidrosis

Wikipedia : 77 Pachydermoperiostosis (PDP) is a rare genetic disorder that affects both bones and skin. Other names are... more...

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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 52)
# Related Disease Score Top Affiliating Genes
1 acroosteolysis 30.3 HPGD SLCO2A1
2 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 12.2
3 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 12.2
4 reginato shiapachasse syndrome 11.4
5 hypertrophic osteoarthropathy, primary, autosomal dominant 11.1
6 pyruvate dehydrogenase phosphatase deficiency 11.1
7 popliteal pterygium syndrome 10.1
8 obstructive nephropathy 10.1
9 cutis verticis gyrata 10.1
10 scleroderma, familial progressive 10.1
11 myelofibrosis 10.1
12 arthritis 10.1
13 acanthosis nigricans 10.0
14 osteoporosis 10.0
15 spondyloarthropathy 1 10.0
16 rheumatoid arthritis 10.0
17 patent ductus arteriosus 1 10.0
18 crohn's disease 10.0
19 osteonecrosis 10.0
20 ptosis 10.0
21 palindromic rheumatism 10.0
22 bronchus cancer 10.0
23 enthesopathy 10.0
24 acromegaly 10.0
25 hypokalemia 10.0
26 spondylitis 10.0
27 hernia, hiatus 9.9
28 alcohol abuse 9.9
29 hepatitis 9.9
30 hepatitis b 9.9
31 joint disorders 9.9
32 skin disease 9.9
33 wrinkles 9.9
34 secondary hypertrophic osteoarthropathy 9.9
35 protein-losing enteropathy 9.9
36 chondrocalcinosis 9.9
37 infant gynecomastia 9.9
38 synostosis 9.9
39 gynecomastia 9.9
40 skin epithelioid hemangioma 9.9
41 adenocarcinoma 9.9
42 gastric adenocarcinoma 9.9
43 arthropathy 9.9
44 hypertrichosis 9.9
45 folliculitis 9.9
46 histiocytoid hemangioma 9.9
47 amyloidosis 9.9
48 carcinoid syndrome 9.9
49 tufted hair folliculitis 9.9
50 hydromyelia 9.9

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:

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

UMLS symptoms related to Primary Hypertrophic Osteoarthropathy:


arthralgia, flushing, metatarsalgia

MGI Mouse Phenotypes related to Primary Hypertrophic Osteoarthropathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.1 CD200 DCN ERF HPGD KDM4D 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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoricoxib Approved, Investigational Phase 3 202409-33-4 123619
2 Peripheral Nervous System Agents Phase 3
3 Anti-Inflammatory Agents Phase 3
4 Cyclooxygenase Inhibitors Phase 3
5 Antirheumatic Agents Phase 3
6 Analgesics, Non-Narcotic Phase 3
7 Analgesics Phase 3
8 Cyclooxygenase 2 Inhibitors Phase 3
9 Anti-Inflammatory Agents, Non-Steroidal 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 30 HPGD
Sources

Anatomical Context for Primary Hypertrophic Osteoarthropathy

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MalaCards organs/tissues related to Primary Hypertrophic Osteoarthropathy:

42
Bone, Skin, Bone Marrow, Endothelial
Sources

Publications for Primary Hypertrophic Osteoarthropathy

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Articles related to Primary Hypertrophic Osteoarthropathy:

(show top 50) (show all 85)
# Title Authors Year
1
The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation. ( 31063976 )
2019
2
Novel SLCO2A1compound heterozygous mutation causing primary hypertrophic osteoarthropathy with Bartter-like hypokalemia in a Chinese family. ( 31004291 )
2019
3
Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients. ( 30292630 )
2018
4
Primary hypertrophic osteoarthropathy: Report of two novel genetic variants in the SLCO2A1 gene in two Mexican patients. ( 29770782 )
2018
5
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
6
Effectiveness of non-steroidal anti-inflammatory drugs among patients with primary hypertrophic osteoarthropathy: A systematic review. ( 29305259 )
2018
7
A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family. ( 29282707 )
2018
8
Primary Hypertrophic Osteoarthropathy With SLCO2A1 Mutation in a Chinese Patient Successfully Treated With Etoricoxib. ( 29239930 )
2018
9
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
10
Primary hypertrophic osteoarthropathy due to a novel SLCO2A1 mutation masquerading as acromegaly. ( 28469926 )
2017
11
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
12
Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy. ( 28339061 )
2017
13
[Genetic analysis of a pedigree with primary hypertrophic osteoarthropathy]. ( 28253600 )
2017
14
Primary hypertrophic osteoarthropathy: ultrasound and MRI findings. ( 26939972 )
2016
15
Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment. ( 26523041 )
2015
16
A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy. ( 26135126 )
2015
17
A novel homozygous mutation in the SLCO2A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient. ( 25601417 )
2015
18
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. ( 24533558 )
2015
19
Primary hypertrophic osteoarthropathy with myelofibrosis and anemia: a case report and review of literature. ( 25785156 )
2015
20
[Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy]. ( 25863089 )
2015
21
Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. ( 25376961 )
2014
22
Primary hypertrophic osteoarthropathy. ( 25255601 )
2014
23
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
24
Two novel mutations in the SLCO2A1 gene in a Chinese patient with primary hypertrophic osteoarthropathy. ( 24185079 )
2014
25
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. ( 24153155 )
2013
26
Aberrant CD200/CD200R1 expression contributes to painful synovium hyperplasia in a patient with primary hypertrophic osteoarthropathy. ( 23595568 )
2013
27
A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy. ( 23531451 )
2013
28
Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization. ( 23509104 )
2013
29
Primary hypertrophic osteoarthropathy: an update. ( 23345113 )
2013
30
Primary hypertrophic osteoarthropathy. ( 21125281 )
2012
31
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. ( 22197487 )
2012
32
Hypertrophy of the feet and ankles presenting in primary hypertrophic osteoarthropathy or pachydermoperiostosis: a case report. ( 22273836 )
2012
33
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. ( 22331663 )
2012
34
Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. ( 22696055 )
2012
35
A primary hypertrophic osteoarthropathy or pachydermoperiostosis. ( 22828562 )
2012
36
Primary hypertrophic osteoarthropathy (incomplete form) in young adults: a case report and review of literature. ( 23242097 )
2012
37
Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity. ( 20889364 )
2011
38
Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. ( 21426412 )
2011
39
Primary hypertrophic osteoarthropathy with gastric hypertrophy. ( 21532061 )
2011
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
Primary hypertrophic osteoarthropathy with hypertrophic gastropathy. ( 20511980 )
2010
43
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. ( 19306095 )
2009
44
Prostaglandin E2 and bone turnover markers in the evaluation of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. ( 19455364 )
2009
45
Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case. ( 19881067 )
2009
46
Primary hypertrophic osteoarthropathy with myelofibrosis. ( 18038138 )
2008
47
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. ( 18500342 )
2008
48
Primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. ( 16969633 )
2007
49
Ankylosing spondylitis in a patient with primary hypertrophic osteoarthropathy. ( 17551390 )
2007
50
Primary hypertrophic osteoarthropathy in a patient with rheumatoid arthritis. ( 17762468 )
2007
Sources

Variations for Primary Hypertrophic Osteoarthropathy

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ClinVar genetic disease variations for Primary Hypertrophic Osteoarthropathy:

6 (show top 50) (show all 106)
# 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 GRCh38 Chromosome 4, 174491446: 174491446
46 HPGD NM_000860.5(HPGD): c.*510G> C single nucleotide variant Uncertain significance rs886059250 GRCh37 Chromosome 4, 175412597: 175412597
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 67
11.09 CD200 CD200R1
2
Microglia Activation During Neuroinflammation: Steady-State Microglia 66
10.28 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 kidney development GO:0001822 9.43 DCN HPGD
2 negative regulation of neuron death GO:1901215 9.4 CD200 CD200R1
3 heterotypic cell-cell adhesion GO:0034113 9.37 CD200 CD200R1
4 negative regulation of interleukin-6 secretion GO:1900165 9.32 CD200 CD200R1
5 negative regulation of macrophage migration GO:1905522 9.26 CD200 CD200R1
6 negative regulation of T cell migration GO:2000405 9.16 CD200 CD200R1
7 regulation of neuroinflammatory response GO:0150077 8.96 CD200 CD200R1
8 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 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 8.65 ERF
2 glycosylated region protein binding GO:0140081 8.62 CD200 CD200R1
Sources

Sources for Primary Hypertrophic Osteoarthropathy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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