PHOAR1
MCID: HYP793
MIFTS: 46

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 (PHOAR1)

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

Aliases & Classifications for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

MalaCards integrated aliases for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:

Name: Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 57 72 29 6
Cranioosteoarthropathy 57 72 29 13 6 70
Pachydermoperiostosis, Autosomal Recessive 57 6
Touraine-Solente-Gole Syndrome 57 72
Phoar1 57 72
Osteoarthropathy, Hypertrophic, Primary, Autosomal Recessive, Type 1 39
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 57
Pachydermoperiostosis Autosomal Recessive 72
Osteoarthropathy, Primary Hypertrophic 70
Currarino Idiopathic Osteoarthropathy 58
Reginato-Schiapachasse Syndrome 58
Reginato Schiapachasse Syndrome 70
Touraine-Solente-Golé Syndrome 73
Pho, Autosomal Recessive 57
Pdp, Autosomal Recessive 57
Cranio Osteoarthropathy 20
Cranio-Osteoarthropathy 58
Pdp Autosomal Recessive 72
Pho Autosomal Recessive 72
Currarino Disease 58
Coa 72

Characteristics:

Orphanet epidemiological data:

58
cranio-osteoarthropathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
exacerbation at puberty
male to female ratio of 7:1
males are more severely affected than females


HPO:

31
hypertrophic osteoarthropathy, primary, autosomal recessive, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

OMIM® : 57 Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008). Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. (259100) (Updated 05-Apr-2021)

MalaCards based summary : Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1, also known as cranioosteoarthropathy, is related to primary hypertrophic osteoarthropathy and secondary hypertrophic osteoarthropathy, and has symptoms including arthralgia, flushing and metatarsalgia. An important gene associated with Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 is HPGD (15-Hydroxyprostaglandin Dehydrogenase). The drugs Etoricoxib and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include bone and endothelial, and related phenotypes are abnormal cortical bone morphology and large fontanelles

UniProtKB/Swiss-Prot : 72 Cranioosteoarthropathy: A form of osteoarthropathy characterized by swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature.
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1: A disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. Other developmental anomalies include delayed closure of the cranial sutures and congenital heart disease.

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

Related Diseases for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

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 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 884)
# Related Disease Score Top Affiliating Genes
1 primary hypertrophic osteoarthropathy 31.9 SLCO2A1 HPGD
2 secondary hypertrophic osteoarthropathy 30.3 SLCO2A1 HPGD
3 succinyl-coa:3-oxoacid-coa transferase deficiency 11.8
4 peroxisomal acyl-coa oxidase deficiency 11.7
5 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.7
6 acyl-coa dehydrogenase, very long-chain, deficiency of 11.7
7 malonyl-coa decarboxylase deficiency 11.7
8 acyl-coa dehydrogenase, short-chain, deficiency of 11.7
9 2-methylbutyryl-coa dehydrogenase deficiency 11.7
10 acyl-coa dehydrogenase, medium-chain, deficiency of 11.7
11 3-methylglutaconic aciduria, type i 11.7
12 3-hydroxyacyl-coa dehydrogenase deficiency 11.6
13 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 11.6
14 3-methylcrotonyl-coa carboxylase deficiency 11.6
15 methylmalonyl-coa epimerase deficiency 11.6
16 hsd10 mitochondrial disease 11.6
17 isobutyryl-coa dehydrogenase deficiency 11.6
18 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 11.6
19 multiple acyl-coa dehydrogenase deficiency 11.6
20 3-hydroxyisobutyryl-coa hydrolase deficiency 11.6
21 alpha-methylacyl-coa racemase deficiency 11.6
22 2,4-dienoyl-coa reductase deficiency 11.6
23 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency 11.5
24 isovaleric acidemia 11.5
25 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 11.5
26 3-methylcrotonyl-coa carboxylase 1 deficiency 11.5
27 mitochondrial dna depletion syndrome 5 11.5
28 3-methylcrotonyl-coa carboxylase 2 deficiency 11.5
29 mitochondrial complex i deficiency, nuclear type 20 11.5
30 peroxisomal fatty acyl-coa reductase 1 disorder 11.5
31 glutaric acidemia i 11.4
32 propionic acidemia 11.4
33 alpha-methylacetoacetic aciduria 11.4
34 medium-chain acyl-coenzyme a dehydrogenase deficiency 11.4
35 glutaric aciduria iii 11.4
36 acetyl-coa carboxylase deficiency 11.4
37 3-alpha hydroxyacyl-coa dehydrogenase deficiency 11.3
38 acetyl-coa acetyltransferase-2 deficiency 11.3
39 methylmalonic aciduria and homocystinuria, cblc type 11.2
40 mitochondrial trifunctional protein deficiency 11.2
41 mucopolysaccharidosis, type iiic 11.2
42 acyl-coa dehydrogenase deficiency 11.2
43 hyperinsulinemic hypoglycemia, familial, 4 11.2
44 refsum disease, classic 11.2
45 medium chain 3-ketoacyl-coa thiolase deficiency 11.2
46 bile acid synthesis defect, congenital, 4 11.1
47 d-bifunctional protein deficiency 11.1
48 2-methylacetoacetyl coa thiolase deficiency 11.0
49 holocarboxylase synthetase deficiency 11.0
50 necrotizing autoimmune myopathy 11.0

Graphical network of the top 20 diseases related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:



Diseases related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Symptoms & Phenotypes for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Human phenotypes related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
2 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
3 mottled pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001070
4 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
5 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
6 abnormality of tibia morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002992
7 joint swelling 58 31 frequent (33%) Frequent (79-30%) HP:0001386
8 clubbing of toes 58 31 frequent (33%) Frequent (79-30%) HP:0100760
9 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
10 abnormality of the knee 58 31 frequent (33%) Frequent (79-30%) HP:0002815
11 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
12 deviation of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004097
13 arthritis 58 31 Frequent (79-30%) HP:0001369
14 ptosis 31 HP:0000508
15 hyperhidrosis 31 HP:0000975
16 high palate 31 HP:0000218
17 osteopenia 31 HP:0000938
18 coarse facial features 31 HP:0000280
19 thickened calvaria 31 HP:0002684
20 osteoporosis 31 HP:0000939
21 pectus excavatum 31 HP:0000767
22 abnormal skull morphology 58 Very frequent (99-80%)
23 disproportionate tall stature 31 HP:0001519
24 patent ductus arteriosus 31 HP:0001643
25 seborrheic dermatitis 31 HP:0001051
26 redundant skin 31 HP:0001582
27 erythema 31 HP:0010783
28 wormian bones 31 HP:0002645
29 limitation of joint mobility 31 HP:0001376
30 palmoplantar hyperkeratosis 31 HP:0000972
31 eczematoid dermatitis 31 HP:0000976
32 arthropathy 31 HP:0003040
33 osteolytic defects of the phalanges of the hand 31 HP:0009771
34 clubbing 31 HP:0001217
35 long clavicles 31 HP:0000890
36 flushing 31 HP:0031284

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
thickened eyelids

Skeletal:
osteopenia
arthritis
osteoporosis
arthralgia
decreased joint mobility
more
Cardiovascular Vascular:
patent ductus arteriosus

Chest Ribs Sternum Clavicles And Scapulae:
long clavicles

Skeletal Limbs:
acroosteolysis
periosteal bone formation
subperiosteal ossification
expanded diaphyses
expanded metaphyses
more
Skeletal Hands:
digital clubbing
enlargement of the hands

Skin Nails Hair Nails:
digital clubbing
turtle-backed nails

Laboratory Abnormalities:
increased urinary prostaglandin e2

Skin Nails Hair Skin:
hyperhidrosis
redundant skin
eczema
palmoplantar hyperkeratosis
flushing
more
Head And Neck Face:
coarse facial features
furrowing of the forehead
prominent facial folds

Skeletal Skull:
wormian bones
thickened calvarium
delayed closure of the fontanels

Head And Neck Mouth:
high-arched palate

Growth Other:
marfanoid habitus

Skeletal Feet:
digital clubbing
enlargement of the feet

Chest External Features:
funnel chest

Clinical features from OMIM®:

259100 (Updated 05-Apr-2021)

UMLS symptoms related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:


arthralgia; flushing; metatarsalgia

Drugs & Therapeutics for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Drugs for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 (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 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Genetic Tests for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Genetic tests related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:

# Genetic test Affiliating Genes
1 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 29 HPGD
2 Cranioosteoarthropathy 29

Anatomical Context for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

MalaCards organs/tissues related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:

40
Bone, Endothelial

Publications for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Articles related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:

(show all 31)
# Title Authors PMID Year
1
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families. 57 6
32282352 2020
2
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy. 6 57
24533558 2015
3
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. 57 6
22553128 2012
4
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. 57 6
22331663 2012
5
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. 6 57
19306095 2009
6
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. 57 6
18500342 2008
7
Pachydermoperiostosis-critical analysis with report of five unusual cases. 6 57
17285282 2007
8
Cranio-osteoarthropathy in sibs. 6 57
17551338 2007
9
Pachydermoperiostosis in childhood. 6 57
9402870 1997
10
Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up. 6
24816859 2014
11
The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene. 6
24929850 2014
12
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. 6
24153155 2013
13
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis. 6
22906430 2012
14
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. 6
22197487 2012
15
The Hippocratic finger points the blame at PGE2. 57
18509311 2008
16
Pachydermoperiostosis: an update. 6
16283874 2005
17
Congenital cardiac disease as a core feature of cranio-osteoarthropathy. 57
15365456 2004
18
Pachydermoperiostosis in a 13 year-old boy presenting as an acromegaly-like syndrome. 57
7584698 1995
19
Pachydermoperiostosis: a case report. 57
8252005 1993
20
Pachydermoperiostosis (primary hypertrophic osteoarthropathy): report of a case with evidence of endothelial and connective tissue involvement. 57
2930280 1989
21
Familial idiopathic hypertrophic osteoarthropathy and cranial suture defects in children. 57
7100937 1982
22
Acrolysis in pachydermoperiostosis. Primary or idiopathic hypertrophic osteoarthropathy. 57
7396613 1980
23
Familial idiopathic osteoarthropathy of children: a case report and progress. 57
5433368 1970
24
Pachydermoperiostosis. Touraine-Solente-Golé syndrome. 57
5960364 1966
25
PACHYDERMOPERIOSTOSIS (IDIOPATHIC CLUBBING AND PERIOSTOSIS): GENETIC AND PHYSIOLOGIC CONSIDERATIONS. 57
14274448 1965
26
IDIOPATHIC OSTEOARTHROPATHY AND CRANIAL DEFECTS IN CHILDREN (FAMILIAL IDIOPATHIC OSTEOARTHROPATHY). 57
14258292 1965
27
Pachydermoperiostosis. Primary or idiopathic hypertrophic osteoarthropathy. 57
13926461 1962
28
Familial idiopathic osteoarthropathy. 57
13718912 1961
29
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study. 61
28963081 2018
30
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. 61
28425581 2017
31
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing. 61
19568269 2009

Variations for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

ClinVar genetic disease variations for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:

6 (show top 50) (show all 98)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HPGD NM_000860.6(HPGD):c.418G>C (p.Ala140Pro) SNV Pathogenic 7917 rs121434480 GRCh37: 4:175429850-175429850
GRCh38: 4:174508699-174508699
2 HPGD NM_000860.6(HPGD):c.232_241delinsCA (p.Val78fs) Indel Pathogenic 7918 rs587776676 GRCh37: 4:175439205-175439214
GRCh38: 4:174518054-174518063
3 HPGD NM_000860.6(HPGD):c.173_174CT[1] (p.Leu59fs) Microsatellite Pathogenic 7919 rs548208942 GRCh37: 4:175443136-175443137
GRCh38: 4:174521985-174521986
4 SLCO2A1 NM_005630.3(SLCO2A1):c.97-1G>A SNV Pathogenic 30186 rs1559943990 GRCh37: 3:133698463-133698463
GRCh38: 3:133979619-133979619
5 SLCO2A1 NM_005630.3(SLCO2A1):c.764G>A (p.Gly255Glu) SNV Pathogenic 30187 rs387906806 GRCh37: 3:133670149-133670149
GRCh38: 3:133951305-133951305
6 SLCO2A1 NM_005630.3(SLCO2A1):c.1634del (p.Asn545fs) Deletion Pathogenic 30188 rs1559927542 GRCh37: 3:133657329-133657329
GRCh38: 3:133938485-133938485
7 SLCO2A1 NM_005630.3(SLCO2A1):c.830dup (p.Phe278fs) Duplication Pathogenic 37167 rs751192029 GRCh37: 3:133670082-133670083
GRCh38: 3:133951238-133951239
8 SLCO2A1 NM_005630.3(SLCO2A1):c.1259G>T (p.Cys420Phe) SNV Pathogenic 37169 rs387907295 GRCh37: 3:133666136-133666136
GRCh38: 3:133947292-133947292
9 SLCO2A1 NM_005630.3(SLCO2A1):c.253A>T (p.Ile85Phe) SNV Pathogenic 37170 rs387907296 GRCh37: 3:133692651-133692651
GRCh38: 3:133973807-133973807
10 SLCO2A1 NM_005630.3(SLCO2A1):c.310G>T (p.Gly104Ter) SNV Pathogenic 37171 rs387907297 GRCh37: 3:133692594-133692594
GRCh38: 3:133973750-133973750
11 HPGD NM_000860.6(HPGD):c.418G>C (p.Ala140Pro) SNV Pathogenic 7917 rs121434480 GRCh37: 4:175429850-175429850
GRCh38: 4:174508699-174508699
12 HPGD NM_000860.6(HPGD):c.1A>T (p.Met1Leu) SNV Pathogenic 156026 rs577045722 GRCh37: 4:175443602-175443602
GRCh38: 4:174522451-174522451
13 HPGD NM_000860.6(HPGD):c.308_309CT[1] (p.Leu104fs) Microsatellite Pathogenic 156027 rs587777719 GRCh37: 4:175439135-175439136
GRCh38: 4:174517984-174517985
14 SLCO2A1 NM_005630.3(SLCO2A1):c.664G>A (p.Gly222Arg) SNV Pathogenic 438675 rs774795340 GRCh37: 3:133672567-133672567
GRCh38: 3:133953723-133953723
15 HPGD NM_000860.6(HPGD):c.34G>A (p.Gly12Ser) SNV Pathogenic 973741 GRCh37: 4:175443569-175443569
GRCh38: 4:174522418-174522418
16 HPGD NM_000860.6(HPGD):c.313C>T (p.Gln105Ter) SNV Pathogenic 973742 GRCh37: 4:175439133-175439133
GRCh38: 4:174517982-174517982
17 SLCO2A1 NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter) SNV Pathogenic 225477 rs776813259 GRCh37: 3:133654625-133654625
GRCh38: 3:133935781-133935781
18 SLCO2A1 NM_005630.3(SLCO2A1):c.940+1G>A SNV Pathogenic 225478 rs765249238 GRCh37: 3:133667736-133667736
GRCh38: 3:133948892-133948892
19 SLCO2A1 NM_005630.3(SLCO2A1):c.830del (p.Phe277fs) Deletion Pathogenic 977938 GRCh37: 3:133670083-133670083
GRCh38: 3:133951239-133951239
20 HPGD NM_000860.6(HPGD):c.307del (p.Thr103fs) Deletion Pathogenic 1032480 GRCh37: 4:175439139-175439139
GRCh38: 4:174517988-174517988
21 SLCO2A1 NM_005630.3(SLCO2A1):c.1931G>C (p.Ter644Ser) SNV Pathogenic 1033018 GRCh37: 3:133653558-133653558
GRCh38: 3:133934714-133934714
22 SLCO2A1 NM_005630.3(SLCO2A1):c.290G>A (p.Arg97His) SNV Likely pathogenic 931465 GRCh37: 3:133692614-133692614
GRCh38: 3:133973770-133973770
23 SLCO2A1 NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg) SNV Likely pathogenic 977939 GRCh37: 3:133673888-133673888
GRCh38: 3:133955044-133955044
24 SLCO2A1 NM_005630.3(SLCO2A1):c.1279_1290del (p.Glu427_Pro430del) Deletion Likely pathogenic 225479 rs1085307096 GRCh37: 3:133666105-133666116
GRCh38: 3:133947261-133947272
25 SLCO2A1 NM_005630.3(SLCO2A1):c.1524del (p.Val509fs) Deletion Likely pathogenic 977936 GRCh37: 3:133661550-133661550
GRCh38: 3:133942706-133942706
26 HPGD NM_000860.6(HPGD):c.446C>G (p.Pro149Arg) SNV Likely pathogenic 599096 rs375335006 GRCh37: 4:175416751-175416751
GRCh38: 4:174495600-174495600
27 SLCO2A1 NM_005630.3(SLCO2A1):c.86del (p.Gly29fs) Deletion Likely pathogenic 829873 rs1576467025 GRCh37: 3:133748561-133748561
GRCh38: 3:134029717-134029717
28 SLCO2A1 NM_005630.3(SLCO2A1):c.1106-1G>C SNV Likely pathogenic 829878 rs1576428882 GRCh37: 3:133666290-133666290
GRCh38: 3:133947446-133947446
29 HPGD NM_000860.6(HPGD):c.*1594A>G SNV Uncertain significance 899800 GRCh37: 4:175411513-175411513
GRCh38: 4:174490362-174490362
30 HPGD NM_000860.6(HPGD):c.*819T>C SNV Uncertain significance 899858 GRCh37: 4:175412288-175412288
GRCh38: 4:174491137-174491137
31 HPGD NM_000860.6(HPGD):c.397A>G (p.Ile133Val) SNV Uncertain significance 900187 GRCh37: 4:175429871-175429871
GRCh38: 4:174508720-174508720
32 HPGD NM_000860.6(HPGD):c.*1450C>T SNV Uncertain significance 900962 GRCh37: 4:175411657-175411657
GRCh38: 4:174490506-174490506
33 HPGD NM_000860.6(HPGD):c.*709A>C SNV Uncertain significance 899859 GRCh37: 4:175412398-175412398
GRCh38: 4:174491247-174491247
34 HPGD NM_000860.6(HPGD):c.*648A>T SNV Uncertain significance 901032 GRCh37: 4:175412459-175412459
GRCh38: 4:174491308-174491308
35 HPGD NM_000860.6(HPGD):c.*41A>G SNV Uncertain significance 899919 GRCh37: 4:175413066-175413066
GRCh38: 4:174491915-174491915
36 HPGD NM_000860.6(HPGD):c.721G>A (p.Ala241Thr) SNV Uncertain significance 901092 GRCh37: 4:175413187-175413187
GRCh38: 4:174492036-174492036
37 HPGD NM_000860.6(HPGD):c.*451A>G SNV Uncertain significance 901586 GRCh37: 4:175412656-175412656
GRCh38: 4:174491505-174491505
38 HPGD NM_000860.6(HPGD):c.606A>G (p.Gln202=) SNV Uncertain significance 796877 rs374385011 GRCh37: 4:175414358-175414358
GRCh38: 4:174493207-174493207
39 HPGD NM_000860.6(HPGD):c.501G>T (p.Leu167Phe) SNV Uncertain significance 901640 GRCh37: 4:175414463-175414463
GRCh38: 4:174493312-174493312
40 SLCO2A1 NM_005630.3(SLCO2A1):c.1333C>T (p.Arg445Cys) SNV Uncertain significance 774302 rs146970901 GRCh37: 3:133664067-133664067
GRCh38: 3:133945223-133945223
41 HPGD NM_000860.6(HPGD):c.*1556C>T SNV Uncertain significance 348173 rs886059244 GRCh37: 4:175411551-175411551
GRCh38: 4:174490400-174490400
42 HPGD NM_001256301.1(HPGD):c.-319G>A SNV Uncertain significance 348209 rs116796476 GRCh37: 4:175443823-175443823
GRCh38: 4:174522672-174522672
43 HPGD NM_000860.6(HPGD):c.*248A>G SNV Uncertain significance 348192 rs886059251 GRCh37: 4:175412859-175412859
GRCh38: 4:174491708-174491708
44 HPGD NM_000860.6(HPGD):c.*941C>T SNV Uncertain significance 348183 rs886059247 GRCh37: 4:175412166-175412166
GRCh38: 4:174491015-174491015
45 HPGD NM_000860.6(HPGD):c.*510G>C SNV Uncertain significance 348190 rs886059250 GRCh37: 4:175412597-175412597
GRCh38: 4:174491446-174491446
46 HPGD NM_001256301.1(HPGD):c.-400C>T SNV Uncertain significance 348211 rs145977377 GRCh37: 4:175443904-175443904
GRCh38: 4:174522753-174522753
47 HPGD NM_000860.6(HPGD):c.*157A>G SNV Uncertain significance 348194 rs886059252 GRCh37: 4:175412950-175412950
GRCh38: 4:174491799-174491799
48 HPGD NM_000860.6(HPGD):c.*914A>G SNV Uncertain significance 348184 rs886059248 GRCh37: 4:175412193-175412193
GRCh38: 4:174491042-174491042
49 HPGD NM_001256301.1(HPGD):c.-271+17T>C SNV Uncertain significance 348207 rs552078994 GRCh37: 4:175443758-175443758
GRCh38: 4:174522607-174522607
50 HPGD NM_000860.6(HPGD):c.773C>A (p.Thr258Lys) SNV Uncertain significance 348199 rs886059254 GRCh37: 4:175413135-175413135
GRCh38: 4:174491984-174491984

UniProtKB/Swiss-Prot genetic disease variations for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1:

72
# Symbol AA change Variation ID SNP ID
1 HPGD p.Ala140Pro VAR_046209 rs121434480

Expression for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Search GEO for disease gene expression data for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1.

Pathways for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

GO Terms for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

Sources for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1

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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