MCID: HYP520
MIFTS: 23

Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

Categories: Genetic diseases, Bone diseases, Rare diseases, Fetal 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 75 73
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 57 13
Primary Hypertrophic Osteoarthropathy, Autosomal Recessive 2 29 6
Phoar2 57 75
Osteoarthropathy, Hypertrophic, Primary, Autosomal Recessive, Type 2 40
Pachydermoperiostosis, Autosomal Recessive 57
Pdp, Autosomal Recessive 57

Characteristics:

OMIM:

57
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 57 614441
MeSH 44 D010004
SNOMED-CT via HPO 69 258211005 367004 57676002
UMLS 73 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)

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). Affiliated tissues include skin, heart and bone, and related phenotypes are clubbing and arthralgia

UniProtKB/Swiss-Prot : 75 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 11.2

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

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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

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

41
Skin, Heart, Bone

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:

75 (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
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 21)
# 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 NM_005630.2(SLCO2A1): c.764G> A (p.Gly255Glu) single nucleotide variant Pathogenic rs387906806 GRCh38 Chromosome 3, 133951305: 133951305
4 SLCO2A1 SLCO2A1, 1-BP DEL, 1634A deletion Pathogenic
5 SLCO2A1 SLCO2A1, GLY222ARG undetermined variant Pathogenic
6 SLCO2A1 SLCO2A1, IVS7, G-A, +1 single nucleotide variant Pathogenic
7 SLCO2A1 SLCO2A1, 1-BP INS, 830T insertion Pathogenic
8 SLCO2A1 NM_005630.2(SLCO2A1): c.1259G> T (p.Cys420Phe) single nucleotide variant Pathogenic rs387907295 GRCh37 Chromosome 3, 133666136: 133666136
9 SLCO2A1 NM_005630.2(SLCO2A1): c.1259G> T (p.Cys420Phe) single nucleotide variant Pathogenic rs387907295 GRCh38 Chromosome 3, 133947292: 133947292
10 SLCO2A1 NM_005630.2(SLCO2A1): c.253A> T (p.Ile85Phe) single nucleotide variant Pathogenic rs387907296 GRCh37 Chromosome 3, 133692651: 133692651
11 SLCO2A1 NM_005630.2(SLCO2A1): c.253A> T (p.Ile85Phe) single nucleotide variant Pathogenic rs387907296 GRCh38 Chromosome 3, 133973807: 133973807
12 SLCO2A1 NM_005630.2(SLCO2A1): c.310G> T (p.Gly104Ter) single nucleotide variant Pathogenic rs387907297 GRCh37 Chromosome 3, 133692594: 133692594
13 SLCO2A1 NM_005630.2(SLCO2A1): c.310G> T (p.Gly104Ter) single nucleotide variant Pathogenic rs387907297 GRCh38 Chromosome 3, 133973750: 133973750
14 SLCO2A1 NM_005630.2(SLCO2A1): c.1807C> T (p.Arg603Ter) single nucleotide variant Pathogenic rs776813259 GRCh37 Chromosome 3, 133654625: 133654625
15 SLCO2A1 NM_005630.2(SLCO2A1): c.1807C> T (p.Arg603Ter) single nucleotide variant Pathogenic rs776813259 GRCh38 Chromosome 3, 133935781: 133935781
16 SLCO2A1 NM_005630.2(SLCO2A1): c.1279_1290delGAAGTCTACCCC (p.Glu427_Pro430del) deletion Likely pathogenic rs1085307096 GRCh37 Chromosome 3, 133666105: 133666116
17 SLCO2A1 NM_005630.2(SLCO2A1): c.1279_1290delGAAGTCTACCCC (p.Glu427_Pro430del) deletion Likely pathogenic rs1085307096 GRCh38 Chromosome 3, 133947261: 133947272
18 SLCO2A1 NM_005630.2(SLCO2A1): c.940+1G> A single nucleotide variant Pathogenic rs765249238 GRCh37 Chromosome 3, 133667736: 133667736
19 SLCO2A1 NM_005630.2(SLCO2A1): c.940+1G> A single nucleotide variant Pathogenic rs765249238 GRCh38 Chromosome 3, 133948892: 133948892
20 SLCO2A1 NM_005630.2(SLCO2A1): c.664G> A (p.Gly222Arg) single nucleotide variant Pathogenic rs774795340 GRCh37 Chromosome 3, 133672567: 133672567
21 SLCO2A1 NM_005630.2(SLCO2A1): c.664G> A (p.Gly222Arg) single nucleotide variant Pathogenic rs774795340 GRCh38 Chromosome 3, 133953723: 133953723

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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