PHOAR2
MCID: HYP520
MIFTS: 25

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 (PHOAR2)

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

Aliases & Classifications for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

MalaCards integrated aliases for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2:

Name: Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 57 72 70
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 57 13
Primary Hypertrophic Osteoarthropathy, Autosomal Recessive 2 29 6
Phoar2 57 72
Osteoarthropathy, Hypertrophic, Primary, Autosomal Recessive, Type 2 39
Pachydermoperiostosis, Autosomal Recessive 57
Pdp, Autosomal Recessive 57

Characteristics:

OMIM®:

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

Miscellaneous:
manifestations present in second decade of life
mild features such as digital clubbing may be apparent in older heterozygotes


HPO:

31
hypertrophic osteoarthropathy, primary, autosomal recessive, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614441
OMIM Phenotypic Series 57 PS259100
MeSH 44 D010004
UMLS 70 C3280800

Summaries for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

OMIM® : 57 Primary hypertrophic osteoarthropathy (PHO), which is also known as pachydermoperiostosis, is a rare genetic disease that affects the skin and bones. PHO is characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and skin manifestations that include thickened facial skin, a thickened scalp, and coarse facial features (summary by Zhang et al., 2012). For a discussion of genetic heterogeneity of PHO, see PHOAR1 (259100). (614441) (Updated 05-Apr-2021)

MalaCards based summary : Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2, also known as hypertrophic osteoarthropathy, primary, autosomal recessive 2, is related to hypertrophic osteoarthropathy, primary, autosomal recessive, 1, and has symptoms including arthralgia An important gene associated with Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 is SLCO2A1 (Solute Carrier Organic Anion Transporter Family Member 2A1). Related phenotypes are arthralgia and hyperostosis

UniProtKB/Swiss-Prot : 72 Hypertrophic osteoarthropathy, primary, autosomal recessive, 2: 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.

Related Diseases for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 11.4

Symptoms & Phenotypes for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

Human phenotypes related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2:

31
# Description HPO Frequency HPO Source Accession
1 arthralgia 31 HP:0002829
2 hyperostosis 31 HP:0100774
3 clubbing 31 HP:0001217
4 periostosis 31 HP:0030314

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
arthralgia
periostosis

Skeletal Feet:
digital clubbing
cortical thickening and acroosteolysis

Skeletal Limbs:
swelling of knees
periosteal hyperostosis of knee
patellar sclerosis
sclerosis of distal femur
sclerosis of distal tibiofibular joint

Laboratory Abnormalities:
elevated urinary pge(2) levels
relatively low urinary pge-m levels

Skeletal Hands:
digital clubbing
loss of normal tabulation of metacarpals and phalanges
cortical thickening of metacarpals and proximal and middle phalanges

Head And Neck Face:
progressive thickening and furrowing of facial skin

Skin Nails Hair Skin:
thick facial skin
furrowed facial skin

Clinical features from OMIM®:

614441 (Updated 05-Apr-2021)

UMLS symptoms related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2:


arthralgia

Drugs & Therapeutics for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

Search Clinical Trials , NIH Clinical Center for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

Genetic Tests for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

Genetic tests related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2:

# Genetic test Affiliating Genes
1 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive 2 29 SLCO2A1

Anatomical Context for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

Publications for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

Articles related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2:

(show all 13)
# Title Authors PMID Year
1
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. 57 6
22553128 2012
2
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. 57 6
22331663 2012
3
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. 57 6
22197487 2012
4
Pachydermoperiostosis: an update. 57 6
16283874 2005
5
The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene. 6
24929850 2014
6
Three novel mutations in the SLCO2A1 gene in two Chinese families with primary hypertrophic osteoarthropathy. 6
24153155 2013
7
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis. 6
22906430 2012
8
Primary hypertrophic osteoarthropathy: a new family supporting genetic heterogeneity. 57
20889364 2011
9
Recent advances in studies of SLCO2A1 as a key regulator of the delivery of prostaglandins to their sites of action. 61
33465398 2021
10
Novel SLCO2A1compound heterozygous mutation causing primary hypertrophic osteoarthropathy with Bartter-like hypokalemia in a Chinese family. 61
31004291 2019
11
Safety and efficacy of cyclooxygenase-2 inhibition for treatment of primary hypertrophic osteoarthropathy: A single-arm intervention trial. 61
31508314 2019
12
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
13
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

Variations for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

ClinVar genetic disease variations for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLCO2A1 NM_005630.3(SLCO2A1):c.97-1G>A SNV Pathogenic 30186 rs1559943990 GRCh37: 3:133698463-133698463
GRCh38: 3:133979619-133979619
2 SLCO2A1 NM_005630.3(SLCO2A1):c.764G>A (p.Gly255Glu) SNV Pathogenic 30187 rs387906806 GRCh37: 3:133670149-133670149
GRCh38: 3:133951305-133951305
3 SLCO2A1 NM_005630.3(SLCO2A1):c.1634del (p.Asn545fs) Deletion Pathogenic 30188 rs1559927542 GRCh37: 3:133657329-133657329
GRCh38: 3:133938485-133938485
4 SLCO2A1 NM_005630.3(SLCO2A1):c.830dup (p.Phe278fs) Duplication Pathogenic 37167 rs751192029 GRCh37: 3:133670082-133670083
GRCh38: 3:133951238-133951239
5 SLCO2A1 NM_005630.3(SLCO2A1):c.1259G>T (p.Cys420Phe) SNV Pathogenic 37169 rs387907295 GRCh37: 3:133666136-133666136
GRCh38: 3:133947292-133947292
6 SLCO2A1 NM_005630.3(SLCO2A1):c.253A>T (p.Ile85Phe) SNV Pathogenic 37170 rs387907296 GRCh37: 3:133692651-133692651
GRCh38: 3:133973807-133973807
7 SLCO2A1 NM_005630.3(SLCO2A1):c.310G>T (p.Gly104Ter) SNV Pathogenic 37171 rs387907297 GRCh37: 3:133692594-133692594
GRCh38: 3:133973750-133973750
8 SLCO2A1 NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter) SNV Pathogenic 225477 rs776813259 GRCh37: 3:133654625-133654625
GRCh38: 3:133935781-133935781
9 SLCO2A1 NM_005630.3(SLCO2A1):c.940+1G>A SNV Pathogenic 225478 rs765249238 GRCh37: 3:133667736-133667736
GRCh38: 3:133948892-133948892
10 SLCO2A1 NM_005630.3(SLCO2A1):c.664G>A (p.Gly222Arg) SNV Pathogenic 438675 rs774795340 GRCh37: 3:133672567-133672567
GRCh38: 3:133953723-133953723
11 SLCO2A1 NM_005630.3(SLCO2A1):c.830del (p.Phe277fs) Deletion Pathogenic 977938 GRCh37: 3:133670083-133670083
GRCh38: 3:133951239-133951239
12 SLCO2A1 NM_005630.3(SLCO2A1):c.1931G>C (p.Ter644Ser) SNV Pathogenic 1033018 GRCh37: 3:133653558-133653558
GRCh38: 3:133934714-133934714
13 SLCO2A1 NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg) SNV Likely pathogenic 977939 GRCh37: 3:133673888-133673888
GRCh38: 3:133955044-133955044
14 SLCO2A1 NM_005630.3(SLCO2A1):c.86del (p.Gly29fs) Deletion Likely pathogenic 829873 rs1576467025 GRCh37: 3:133748561-133748561
GRCh38: 3:134029717-134029717
15 SLCO2A1 NM_005630.3(SLCO2A1):c.1106-1G>C SNV Likely pathogenic 829878 rs1576428882 GRCh37: 3:133666290-133666290
GRCh38: 3:133947446-133947446
16 SLCO2A1 NM_005630.3(SLCO2A1):c.290G>A (p.Arg97His) SNV Likely pathogenic 931465 GRCh37: 3:133692614-133692614
GRCh38: 3:133973770-133973770
17 SLCO2A1 NM_005630.3(SLCO2A1):c.1524del (p.Val509fs) Deletion Likely pathogenic 977936 GRCh37: 3:133661550-133661550
GRCh38: 3:133942706-133942706
18 SLCO2A1 NM_005630.3(SLCO2A1):c.1279_1290del (p.Glu427_Pro430del) Deletion Likely pathogenic 225479 rs1085307096 GRCh37: 3:133666105-133666116
GRCh38: 3:133947261-133947272
19 SLCO2A1 NM_005630.3(SLCO2A1):c.398-5T>C SNV Uncertain significance 977937 GRCh37: 3:133674042-133674042
GRCh38: 3:133955198-133955198
20 SLCO2A1 NM_005630.3(SLCO2A1):c.1333C>T (p.Arg445Cys) SNV Uncertain significance 774302 rs146970901 GRCh37: 3:133664067-133664067
GRCh38: 3:133945223-133945223
21 SLCO2A1 NM_005630.3(SLCO2A1):c.484C>G (p.Pro162Ala) SNV Uncertain significance 727669 rs140769111 GRCh37: 3:133673951-133673951
GRCh38: 3:133955107-133955107

UniProtKB/Swiss-Prot genetic disease variations for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2:

72 (show all 12)
# Symbol AA change Variation ID SNP ID
1 SLCO2A1 p.Gly222Arg VAR_067598 rs774795340
2 SLCO2A1 p.Gly255Glu VAR_067599 rs387906806
3 SLCO2A1 p.Phe557Ser VAR_068352
4 SLCO2A1 p.Ile85Phe VAR_068636 rs387907296
5 SLCO2A1 p.Arg97His VAR_068637 rs137698956
6 SLCO2A1 p.Gly181Ala VAR_068638
7 SLCO2A1 p.Gly181Asp VAR_068639
8 SLCO2A1 p.Ser204Leu VAR_068640 rs555934769
9 SLCO2A1 p.Gly255Arg VAR_068641
10 SLCO2A1 p.Cys420Phe VAR_068642 rs387907295
11 SLCO2A1 p.Gln556His VAR_068644
12 SLCO2A1 p.Trp565Gly VAR_068645

Expression for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

Search GEO for disease gene expression data for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2.

Pathways for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

GO Terms for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

Sources for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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