Cranio Osteoarthropathy (PDP) malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Cranio Osteoarthropathy

About this section

OMIM:46 Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy,... (259100) more...

MalaCards based summary: Cranio Osteoarthropathy, also known as pachydermoperiostosis, is related to primary hypertrophic osteoarthropathy and myelofibrosis, and has symptoms including abnormality of the fontanelles or cranial sutures, thickened skin and abnormal cortical bone morphology. An important gene associated with Cranio Osteoarthropathy is HPGD (hydroxyprostaglandin dehydrogenase 15-(NAD)). The compounds (+-)-pgf2-alpha and prostaglandin f2alpha have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skin, and related mouse phenotype cardiovascular system.

Descriptions from OMIM:46 167100,614441

Aliases & Classifications for Cranio Osteoarthropathy

About this section
42NIH Rare Diseases, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Cranio Osteoarthropathy, Aliases & Descriptions:

Name: Cranio Osteoarthropathy 42
Pachydermoperiostosis 48 46 61
Currarino Idiopathic Osteoarthropathy 48 61
Cranioosteoarthropathy 46 61
Osteoarthropathy, Primary Hypertrophic 61
Reginato-Schiapachasse Syndrome 48
Reginato Schiapachasse Syndrome 61
Touraine-Solente-Gole Syndrome 48
Disorder of Skeletal System 61
Cranio-Osteoarthropathy 48
Currarino Disease 48
Pdp 48


Characteristics (Orphanet epidemiological data):

currarino idiopathic osteoarthropathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Normal

External Ids:

ICD10 via Orphanet27 M89.4
UMLS via Orphanet62 C2930922

Related Diseases for Cranio Osteoarthropathy

About this section

Diseases related to Cranio Osteoarthropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1primary hypertrophic osteoarthropathy30.8SLCO2A1, HPGD
4cutis verticis gyrata10.1
8protein-losing enteropathy10.0
9secondary hypertrophic osteoarthropathy10.0
10acanthosis nigricans10.0
13tufted hair folliculitis10.0
16hypertrophic osteoarthropathy, primary, autosomal recessive 210.0
18monosomy 2210.0

Graphical network of diseases related to Cranio Osteoarthropathy:

Diseases related to cranio osteoarthropathy

Symptoms for Cranio Osteoarthropathy

About this section

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (show all 52)
  • skull/cranial anomalies
  • large fontanelle/delayed fontanelle closure
  • thick skin/pachydermia/orange skin
  • bone tumefaction/swelling
  • cortical anomaly/thick bone cortical layer
  • autosomal recessive inheritance
  • hyperhidrosis/increased sweating
  • seborrhea/hyperseborrhea/seborrheic dermatitis
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • bone pain
  • epiphyseal anomaly
  • autosomal dominant inheritance
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • knee anomalies (excluding patella)
  • terminal broadening/clubbing of toes
  • articular/joint pain/arthralgia
  • hydrarthrosis/articular/joint effusion
  • osteoarthritis
  • arthritis/synovitis/synovial proliferation
  • restricted joint mobility/joint stiffness/ankylosis
  • coarse face
  • ptosis
  • acne/acnea
  • cutaneous edema
  • decreased body hair/axillar/pubic hairlessness
  • thick scalp/scalp dysplasia
  • abnormal fingernails
  • thin/hypoplastic/hyperconvex fingernails
  • osteolysis/osteoclasia/bone destruction/erosions
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • eczema
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • scoliosis
  • small hand/acromicria
  • genu varum
  • palmoplantar hyperkeratosis/keratoderma
  • follicular/erythematous/edematous papules/milium
  • skin tumors/lumps/epidermal cysts
  • abnormal implantation of hair
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • malabsorption/chronic diarrhea/steatorrhea
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • acute palsy
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • osteonecrosis/bone infarction
  • bone marrow anomalies
  • anaemia
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • acromegaly
  • hot flushes/sensation of cold

HPO human phenotypes related to Cranio Osteoarthropathy:

(show all 72)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 thickened skin hallmark (90%) HP:0001072
3 abnormal cortical bone morphology hallmark (90%) HP:0003103
4 hyperhidrosis hallmark (90%) HP:0000975
5 seborrheic dermatitis hallmark (90%) HP:0001051
6 bone pain hallmark (90%) HP:0002653
7 osteomyelitis hallmark (90%) HP:0002754
8 abnormality of the epiphyses hallmark (90%) HP:0005930
9 limitation of joint mobility typical (50%) HP:0001376
10 joint swelling typical (50%) HP:0001386
11 osteoarthritis typical (50%) HP:0002758
12 abnormality of the knees typical (50%) HP:0002815
13 arthralgia typical (50%) HP:0002829
14 abnormality of the tibia typical (50%) HP:0002992
15 clubbing of toes typical (50%) HP:0100760
16 coarse facial features typical (50%) HP:0000280
17 ptosis typical (50%) HP:0000508
18 acne typical (50%) HP:0001061
19 abnormality of the fingernails typical (50%) HP:0001231
20 arthritis typical (50%) HP:0001369
21 abnormality of the scalp typical (50%) HP:0001965
22 osteolysis typical (50%) HP:0002797
23 abnormal hair quantity typical (50%) HP:0011362
24 ptosis occasional (7.5%) HP:0000508
25 eczema occasional (7.5%) HP:0000964
26 deviation of finger occasional (7.5%) HP:0004097
27 gynecomastia occasional (7.5%) HP:0000771
28 growth hormone excess occasional (7.5%) HP:0000845
29 palmoplantar keratoderma occasional (7.5%) HP:0000982
30 splenomegaly occasional (7.5%) HP:0001744
31 anemia occasional (7.5%) HP:0001903
32 malabsorption occasional (7.5%) HP:0002024
33 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
34 hepatomegaly occasional (7.5%) HP:0002240
35 scoliosis occasional (7.5%) HP:0002650
36 genu varum occasional (7.5%) HP:0002970
37 short palm occasional (7.5%) HP:0004279
38 abnormality of the gastric mucosa occasional (7.5%) HP:0004295
39 reduced bone mineral density occasional (7.5%) HP:0004349
40 abnormality of bone marrow cell morphology occasional (7.5%) HP:0005561
41 neoplasm of the skin occasional (7.5%) HP:0008069
42 impaired temperature sensation occasional (7.5%) HP:0010829
43 aseptic necrosis occasional (7.5%) HP:0010885
44 cerebral palsy occasional (7.5%) HP:0100021
45 neoplasm of the lung occasional (7.5%) HP:0100526
46 autosomal dominant inheritance HP:0000006
47 hyperhidrosis HP:0000975
48 cutis gyrata of scalp HP:0010541
49 clubbing of fingers HP:0100759
50 autosomal recessive inheritance HP:0000007
51 high palate HP:0000218
52 large fontanelles HP:0000239
53 coarse facial features HP:0000280
54 ptosis HP:0000508
55 pectus excavatum HP:0000767
56 long clavicles HP:0000890
57 osteopenia HP:0000938
58 osteoporosis HP:0000939
59 palmoplantar hyperkeratosis HP:0000972
60 eczematoid dermatitis HP:0000976
61 seborrheic dermatitis HP:0001051
62 clubbing HP:0001217
63 arthritis HP:0001369
64 limitation of joint mobility HP:0001376
65 disproportionate tall stature HP:0001519
66 redundant skin HP:0001582
67 patent ductus arteriosus HP:0001643
68 wormian bones HP:0002645
69 thickened calvaria HP:0002684
70 arthralgia HP:0002829
71 congenital onset HP:0003577
72 osteolytic defects of the phalanges of the hand HP:0009771

Drugs & Therapeutics for Cranio Osteoarthropathy

About this section

Drug clinical trials:

Search ClinicalTrials for Cranio Osteoarthropathy

Search NIH Clinical Center for Cranio Osteoarthropathy

Genetic Tests for Cranio Osteoarthropathy

About this section

Anatomical Context for Cranio Osteoarthropathy

About this section

MalaCards organs/tissues related to Cranio Osteoarthropathy:

Bone, Heart, Skin, Bone marrow, Liver, Lung, Breast

Animal Models for Cranio Osteoarthropathy or affiliated genes

About this section

MGI Mouse Phenotypes related to Cranio Osteoarthropathy:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1SLCO2A1, HPGD

Publications for Cranio Osteoarthropathy

About this section

Articles related to Cranio Osteoarthropathy:

Cranio-osteoarthropathy: a rare variant of hypertrophic osteoarthropathy. (19430868)
Cranio-osteoarthropathy in sibs. (17551338)
Congenital cardiac disease as a core feature of cranio-osteoarthropathy. (15365456)
Idiopathic cranio-osteoarthropathy. (10869149)

Variations for Cranio Osteoarthropathy

About this section

UniProtKB/Swiss-Prot genetic disease variations for Cranio Osteoarthropathy:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Cranio Osteoarthropathy:

7 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1SLCO2A1SLCO2A1, IVS1AS, G-A, -1single nucleotide variantPathogenic
2SLCO2A1NM_005630.2(SLCO2A1): c.764G> A (p.Gly255Glu)single nucleotide variantPathogenicrs387906806GRCh37Chr 3, 133670149: 133670149
3SLCO2A1SLCO2A1, 1-BP DEL, 1634AdeletionPathogenic
4SLCO2A1SLCO2A1, GLY222ARGundetermined variantPathogenic
5SLCO2A1SLCO2A1, IVS7, G-A, +1single nucleotide variantPathogenic
6SLCO2A1SLCO2A1, 1-BP INS, 830TinsertionPathogenic
7SLCO2A1NM_005630.2(SLCO2A1): c.1259G> T (p.Cys420Phe)single nucleotide variantPathogenicrs387907295GRCh37Chr 3, 133666136: 133666136
8SLCO2A1NM_005630.2(SLCO2A1): c.253A> T (p.Ile85Phe)single nucleotide variantPathogenicrs387907296GRCh37Chr 3, 133692651: 133692651
9SLCO2A1NM_005630.2(SLCO2A1): c.310G> T (p.Gly104Ter)single nucleotide variantPathogenicrs387907297GRCh37Chr 3, 133692594: 133692594
10HPGDHPGD, 10-BP DEL/2-BP INS, NT232indelPathogenic
11HPGDHPGD, 2-BP DEL, 175CTdeletionPathogenic

Expression for genes affiliated with Cranio Osteoarthropathy

About this section
Expression patterns in normal tissues for genes affiliated with Cranio Osteoarthropathy

Search GEO for disease gene expression data for Cranio Osteoarthropathy.

Pathways for genes affiliated with Cranio Osteoarthropathy

About this section

Compounds for genes affiliated with Cranio Osteoarthropathy

About this section
44Novoseek, 29IUPHAR, 60Tocris Bioscience, 12DrugBank, 25HMDB
See all sources

Compounds related to Cranio Osteoarthropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(+-)-pgf2-alpha449.3SLCO2A1, HPGD
2prostaglandin f2alpha449.2SLCO2A1, HPGD
3pge1449.2SLCO2A1, HPGD
4prostaglandin449.1HPGD, SLCO2A1
5pge2449.1SLCO2A1, HPGD
6indomethacin44 29 60 1212.0SLCO2A1, HPGD
7arachidonic acid44 29 25 1211.8SLCO2A1, HPGD

GO Terms for genes affiliated with Cranio Osteoarthropathy

About this section

Products for genes affiliated with Cranio Osteoarthropathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cranio Osteoarthropathy

About this section
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet