PHOAD
MCID: HYP759
MIFTS: 16

Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant (PHOAD)

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

Aliases & Classifications for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

MalaCards integrated aliases for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant:

Name: Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 56 71
Pachydermoperiostosis, Autosomal Dominant 56
Pho, Autosomal Dominant 56
Pdp, Autosomal Dominant 56
Phoad 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant
? heterogeneity


HPO:

31
hypertrophic osteoarthropathy, primary, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

MalaCards based summary : Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant, is also known as pachydermoperiostosis, autosomal dominant. Affiliated tissues include bone and skin, and related phenotypes are ptosis and hyperhidrosis

More information from OMIM: 167100

Related Diseases for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

Symptoms & Phenotypes for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

Human phenotypes related to Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 occasional (7.5%) HP:0000508
2 hyperhidrosis 31 HP:0000975
3 thickened skin 31 HP:0001072
4 periosteal thickening of long tubular bones 31 HP:0006465
5 cutis gyrata of scalp 31 HP:0010541
6 clubbing of fingers 31 HP:0100759

Symptoms via clinical synopsis from OMIM:

56
Skin:
hyperhidrosis
cutis gyrata
coarse skin
cutis verticis gyrata latens
seborrheic hyperplasia

Eyes:
occasional ptosis

Misc:
females more mildly affected than males

Limbs:
finger clubbing

Skel:
osteoarthropathy

Radiology:
thickened periosteum of distal limb bones

Clinical features from OMIM:

167100

Drugs & Therapeutics for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

Genetic Tests for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

Anatomical Context for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

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

40
Bone, Skin

Publications for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

Articles related to Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant:

# Title Authors PMID Year
1
Pachydermoperiostosis: an update. 56
16283874 2005
2
PACHYDERMOPERIOSTOSIS (IDIOPATHIC CLUBBING AND PERIOSTOSIS): GENETIC AND PHYSIOLOGIC CONSIDERATIONS. 56
14274448 1965

Variations for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

Expression for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

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

Pathways for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

GO Terms for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

Sources for Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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