PDP
MCID: CRN077
MIFTS: 43

Cranio Osteoarthropathy (PDP) malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases categories
Download this MalaCard

Summaries for Cranio Osteoarthropathy

About this section


Fully expand this MalaCard
MalaCards based summary: Cranio Osteoarthropathy, also known as pachydermoperiostosis, is related to primary hypertrophic osteoarthropathy and myelofibrosis, and has symptoms including skull/cranial anomalies, large fontanelle/delayed fontanelle closure and thick skin/pachydermia/orange skin. 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 259100,167100,614441

Aliases & Classifications for Cranio Osteoarthropathy

About this section
Sources:
42NIH Rare Diseases, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Cranio Osteoarthropathy, Aliases & Descriptions:

Name: Cranio Osteoarthropathy 42
Pachydermoperiostosis 48 46 62
Currarino Idiopathic Osteoarthropathy 48 62
Cranioosteoarthropathy 46 62
Osteoarthropathy, Primary Hypertrophic 62
Reginato Schiapachasse Syndrome 62
 
Reginato-Schiapachasse Syndrome 48
Touraine-Solente-Gole Syndrome 48
Disorder of Skeletal System 62
Cranio-Osteoarthropathy 48
Currarino Disease 48
Pdp 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
currarino idiopathic osteoarthropathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal
pachydermoperiostosis:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Normal


External Ids:

ICD10 via Orphanet26 M89.4
UMLS via Orphanet63 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
2myelofibrosis10.3
3hypertrichosis10.1
4cutis verticis gyrata10.1
5osteoporosis10.0
6gynecomastia10.0
7folliculitis10.0
8protein-losing enteropathy10.0
9secondary hypertrophic osteoarthropathy10.0
10acanthosis nigricans10.0
11scleroderma10.0
12synostosis10.0
13tufted hair folliculitis10.0
14keratoderma10.0
15hydromyelia10.0
16hypertrophic osteoarthropathy, primary, autosomal recessive 210.0
17endotheliitis10.0
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:

167100

Clinical features from OMIM:

259100,167100,614441

Symptoms:

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
  • 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
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • eczema
  • hyperhidrosis/increased sweating
  • seborrhea/hyperseborrhea/seborrheic dermatitis
  • osteomyelitis/osteitis/periostitis/spondylodisciitis
  • bone pain
  • epiphyseal anomaly
  • autosomal dominant inheritance
  • 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
  • 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 78)
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 abnormal cortical bone morphology hallmark (90%) HP:0003103
9 abnormality of the epiphyses hallmark (90%) HP:0005930
10 limitation of joint mobility typical (50%) HP:0001376
11 joint swelling typical (50%) HP:0001386
12 osteoarthritis typical (50%) HP:0002758
13 abnormality of the knees typical (50%) HP:0002815
14 arthralgia typical (50%) HP:0002829
15 abnormality of the tibia typical (50%) HP:0002992
16 clubbing of toes typical (50%) HP:0100760
17 coarse facial features typical (50%) HP:0000280
18 ptosis typical (50%) HP:0000508
19 acne typical (50%) HP:0001061
20 abnormality of the fingernails typical (50%) HP:0001231
21 arthritis typical (50%) HP:0001369
22 limitation of joint mobility typical (50%) HP:0001376
23 joint swelling typical (50%) HP:0001386
24 abnormality of the scalp typical (50%) HP:0001965
25 osteolysis typical (50%) HP:0002797
26 arthralgia typical (50%) HP:0002829
27 abnormal hair quantity typical (50%) HP:0011362
28 clubbing of toes typical (50%) HP:0100760
29 ptosis occasional (7.5%) HP:0000508
30 eczema occasional (7.5%) HP:0000964
31 deviation of finger occasional (7.5%) HP:0004097
32 gynecomastia occasional (7.5%) HP:0000771
33 growth hormone excess occasional (7.5%) HP:0000845
34 palmoplantar keratoderma occasional (7.5%) HP:0000982
35 splenomegaly occasional (7.5%) HP:0001744
36 anemia occasional (7.5%) HP:0001903
37 malabsorption occasional (7.5%) HP:0002024
38 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
39 hepatomegaly occasional (7.5%) HP:0002240
40 scoliosis occasional (7.5%) HP:0002650
41 genu varum occasional (7.5%) HP:0002970
42 short palm occasional (7.5%) HP:0004279
43 abnormality of the gastric mucosa occasional (7.5%) HP:0004295
44 reduced bone mineral density occasional (7.5%) HP:0004349
45 abnormality of bone marrow cell morphology occasional (7.5%) HP:0005561
46 neoplasm of the skin occasional (7.5%) HP:0008069
47 impaired temperature sensation occasional (7.5%) HP:0010829
48 aseptic necrosis occasional (7.5%) HP:0010885
49 cerebral palsy occasional (7.5%) HP:0100021
50 neoplasm of the lung occasional (7.5%) HP:0100526
51 autosomal dominant inheritance HP:0000006
52 hyperhidrosis HP:0000975
53 cutis gyrata of scalp HP:0010541
54 clubbing of fingers HP:0100759
55 autosomal recessive inheritance HP:0000007
56 high palate HP:0000218
57 large fontanelles HP:0000239
58 coarse facial features HP:0000280
59 ptosis HP:0000508
60 pectus excavatum HP:0000767
61 long clavicles HP:0000890
62 osteopenia HP:0000938
63 osteoporosis HP:0000939
64 palmoplantar hyperkeratosis HP:0000972
65 hyperhidrosis HP:0000975
66 eczematoid dermatitis HP:0000976
67 seborrheic dermatitis HP:0001051
68 clubbing HP:0001217
69 arthritis HP:0001369
70 limitation of joint mobility HP:0001376
71 disproportionate tall stature HP:0001519
72 redundant skin HP:0001582
73 patent ductus arteriosus HP:0001643
74 wormian bones HP:0002645
75 thickened calvaria HP:0002684
76 arthralgia HP:0002829
77 congenital onset HP:0003577
78 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:

32
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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1SLCO2A1, HPGD

Publications for Cranio Osteoarthropathy

About this section

Articles related to Cranio Osteoarthropathy:

idTitleAuthorsYear
1
Cranio-osteoarthropathy: a rare variant of hypertrophic osteoarthropathy. (19430868)
2012
2
Cranio-osteoarthropathy in sibs. (17551338)
2007
3
Congenital cardiac disease as a core feature of cranio-osteoarthropathy. (15365456)
2004
4
Idiopathic cranio-osteoarthropathy. (10869149)
2000

Variations for Cranio Osteoarthropathy

About this section

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

64
id Symbol AA change Variation ID SNP ID
1HPGDp.Ala140ProVAR_046209

Clinvar genetic disease variations for Cranio Osteoarthropathy:

6 (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
Sources:
44Novoseek, 28IUPHAR, 61Tocris Bioscience, 11DrugBank, 24HMDB
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 28 61 1112.0SLCO2A1, HPGD
7arachidonic acid44 28 24 1111.8SLCO2A1, 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

Sources for Cranio Osteoarthropathy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet