MCID: HYP533
MIFTS: 26

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2

Categories: Genetic diseases, Bone diseases, Rare 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 54 13
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 71 69
Phoar2 24 71
Hypertrophic Osteoarthropathy, Primary Autosomal Recessive 2 24
Primary Hypertrophic Osteoarthropathy, Autosomal Recessive 2 29
Pachydermoperiostosis, Autosomal Recessive 24

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
hypertrophic osteoarthropathy, primary, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614441
MeSH 42 D010004
SNOMED-CT via HPO 65 258211005 367004 57676002

Summaries for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2

OMIM : 54
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)

MalaCards based summary : Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2, also known as hypertrophic osteoarthropathy, primary, autosomal recessive, 2, is related to cranioosteoarthropathy, and has symptoms including arthralgia, periostosis and clubbing. An important gene associated with Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 is SLCO2A1 (Solute Carrier Organic Anion Transporter Family Member 2A1). The drugs Etoricoxib and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart.

UniProtKB/Swiss-Prot : 71 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 Recessive 2 Secondary Hypertrophic Osteoarthropathy

Diseases related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cranioosteoarthropathy 11.1

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

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Feet:
digital clubbing
cortical thickening and acroosteolysis

Skeletal:
arthralgia
periostosis

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

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

32
id Description HPO Frequency HPO Source Accession
1 arthralgia 32 HP:0002829
2 periostosis 32 HP:0030314
3 clubbing 32 HP:0001217

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


arthralgia

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

Drugs for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
id 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:


id 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 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:

id Genetic test Affiliating Genes
1 Primary Hypertrophic Osteoarthropathy, Autosomal Recessive 2 29
2 Hypertrophic Osteoarthropathy, Primary Autosomal Recessive 2 24 SLCO2A1

Anatomical Context for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2

MalaCards organs/tissues related to Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2:

39
Skin, Bone, Heart

Publications for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2

Variations for Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2

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

71 (show all 12)
id 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
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

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

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLCO2A1 SLCO2A1, IVS1AS, G-A, -1 single nucleotide variant Pathogenic
2 SLCO2A1 NM_005630.2(SLCO2A1): c.764G> A (p.Gly255Glu) single nucleotide variant Pathogenic rs387906806 GRCh37 Chromosome 3, 133670149: 133670149
3 SLCO2A1 SLCO2A1, 1-BP DEL, 1634A deletion Pathogenic
4 SLCO2A1 SLCO2A1, GLY222ARG undetermined variant Pathogenic
5 SLCO2A1 SLCO2A1, IVS7, G-A, +1 single nucleotide variant Pathogenic
6 SLCO2A1 SLCO2A1, 1-BP INS, 830T insertion Pathogenic
7 SLCO2A1 NM_005630.2(SLCO2A1): c.1259G> T (p.Cys420Phe) single nucleotide variant Pathogenic rs387907295 GRCh37 Chromosome 3, 133666136: 133666136
8 SLCO2A1 NM_005630.2(SLCO2A1): c.253A> T (p.Ile85Phe) single nucleotide variant Pathogenic rs387907296 GRCh37 Chromosome 3, 133692651: 133692651
9 SLCO2A1 NM_005630.2(SLCO2A1): c.310G> T (p.Gly104Ter) single nucleotide variant Pathogenic rs387907297 GRCh37 Chromosome 3, 133692594: 133692594
10 SLCO2A1 NM_005630.2(SLCO2A1): c.1807C> T (p.Arg603Ter) single nucleotide variant Pathogenic rs776813259 GRCh37 Chromosome 3, 133654625: 133654625
11 SLCO2A1 NM_005630.2(SLCO2A1): c.1279_1290delGAAGTCTACCCC (p.Glu427_Pro430del) deletion Likely pathogenic rs1085307096 GRCh37 Chromosome 3, 133666105: 133666116
12 SLCO2A1 NM_005630.2(SLCO2A1): c.940+1G> A single nucleotide variant Pathogenic rs765249238 GRCh37 Chromosome 3, 133667736: 133667736

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

3 CDC
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60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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