PDP
MCID: CRN077
MIFTS: 39

Cranio Osteoarthropathy (PDP) malady

Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Cranio Osteoarthropathy

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46OMIM, 32MalaCards
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MalaCards: Cranio Osteoarthropathy, also known as currarino idiopathic osteoarthropathy, is related to primary hypertrophic osteoarthropathy and myelofibrosis, and has symptoms including skin tumors/lumps/epidermal cysts, follicular/erythematous/edematous papules/milium and palmoplantar hyperkeratosis/keratoderma. 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.

Description from OMIM:46 259100,167100,614441

Aliases & Classifications for Cranio Osteoarthropathy

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Sources:
42NIH Rare Diseases, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases, Skin diseases


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


Aliases & Descriptions:

cranio osteoarthropathy 42
currarino idiopathic osteoarthropathy 48 60
cranioosteoarthropathy 46 60
pachydermoperiostosis 48 46
osteoarthropathy, primary hypertrophic 60
reginato-schiapachasse syndrome 48
reginato schiapachasse syndrome 60
touraine-solente-gole syndrome 48
disorder of skeletal system 60
cranio-osteoarthropathy 48
currarino disease 48
pdp 48


External Ids:

ICD10 via Orphanet26 M89.4
SNOMED-CT via Orphanet57 88220006

Related Diseases for Cranio Osteoarthropathy

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Cranio Osteoarthropathy:



Diseases related to cranio osteoarthropathy

Clinical Features for Cranio Osteoarthropathy

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

259100,167100,614441

Clinical synopsis from OMIM:

167100

Symptoms:

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

Drugs & Therapeutics for Cranio Osteoarthropathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cranio Osteoarthropathy

Drug clinical trials:

Search ClinicalTrials for Cranio Osteoarthropathy

Search NIH Clinical Center for Cranio Osteoarthropathy

Search CenterWatch for Cranio Osteoarthropathy

Genetic Tests for Cranio Osteoarthropathy

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Anatomical Context for Cranio Osteoarthropathy

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Sources:
32MalaCards
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MalaCards organs/tissues related to Cranio Osteoarthropathy:

32
Bone, Heart, Skin, Bone marrow, Liver, Lung, Breast

Animal Models for Cranio Osteoarthropathy or affiliated genes

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Publications for Cranio Osteoarthropathy

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Genetic Variations for Cranio Osteoarthropathy

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Cranio Osteoarthropathy:

62
id Symbol AA change Variation ID SNP ID
1HPGDp.Ala140ProVAR_046209

Expression for genes affiliated with Cranio Osteoarthropathy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Cranio Osteoarthropathy

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Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Cranio Osteoarthropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(+-)-pgf2-alpha449.3SLCO2A1, HPGD
2prostaglandin f2alpha449.2HPGD, SLCO2A1
3pge1449.2HPGD, SLCO2A1
4prostaglandin449.1SLCO2A1, HPGD
5pge2449.1SLCO2A1, HPGD
6indomethacin44 59 28 1112.0SLCO2A1, HPGD
7arachidonic acid44 28 11 2411.8SLCO2A1, HPGD

GO Terms for genes affiliated with Cranio Osteoarthropathy

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Products for genes affiliated with Cranio Osteoarthropathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cranio Osteoarthropathy

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet