HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2

General Information (adopted from Orphanet):

Synonyms, Signs: PDP, AUTOSOMAL RECESSIVE
PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE
PHOAR2
Number of Symptoms 18
OrphanetNr:
OMIM Id: 614441
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001217) Clubbing 39 / 7739
2
(HPO:0002829) Arthralgia 79 / 7739
3
(OMIM) Relatively low urinary PGE-M levels 1 / 7739
4
(OMIM) Furrowed facial skin 1 / 7739
5
(OMIM) Periostosis 2 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Cortical thickening and acroosteolysis 1 / 7739
8
(OMIM) Patellar sclerosis 1 / 7739
9
(OMIM) Cortical thickening of metacarpals and proximal and middle phalanges 1 / 7739
10
(OMIM) Sclerosis of distal tibiofibular joint 1 / 7739
11
(OMIM) Swelling of knees 1 / 7739
12
(OMIM) Sclerosis of distal femur 1 / 7739
13
(OMIM) Thick facial skin 1 / 7739
14
(OMIM) Periosteal hyperostosis of knee 1 / 7739
15
(OMIM) Elevated urinary PGE(2) levels 1 / 7739
16
(OMIM) Loss of normal tabulation of metacarpals and phalanges 1 / 7739
17
(OMIM) Progressive thickening and furrowing of facial skin 1 / 7739
18
(HPO:0030314) Periostosis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Castori et al. (2005) reported a 37-year-old Italian man with pachydermoperiostosis (PDP), born of unaffected consanguineous parents. At puberty, the patient noted progressive enlargement of the hands, feet, and knees, as well as facial furrowing. He had redundant ...
Genotype-Phenotype Correlations OMIM Seifert et al. (2012) observed that in patients with homozygous mutations in the SLCO2A1 gene, manifestations of PHO emerged later than in patients with HPGD mutations, beginning with clubbing of distal phalanges during puberty and pachydermia shortly after ...
Molecular genetics OMIM In a consanguineous Moroccan family with primary hypertrophic osteoarthropathy, Harifi et al. (2011) sequenced the 7 exons of the HPGD gene (601688) but detected no mutation or polymorphic variants.

In a Han Chinese male proband with ...