PDP
MCID: CRN077
MIFTS: 42

Cranio Osteoarthropathy (PDP) malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Cranio Osteoarthropathy

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Sources:
47OMIM, 33MalaCards
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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 terminal broadening/clubbing of toes, terminal broadening/clubbing of toes and abnormal implantation of hair. 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.

Description from OMIM:47 259100,167100,614441

Aliases & Classifications for Cranio Osteoarthropathy

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Sources:
43NIH Rare Diseases, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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 43
currarino idiopathic osteoarthropathy 49 62
cranioosteoarthropathy 47 62
pachydermoperiostosis 49 47
osteoarthropathy, primary hypertrophic 62
reginato-schiapachasse syndrome 49
reginato schiapachasse syndrome 62
touraine-solente-gole syndrome 49
disorder of skeletal system 62
cranio-osteoarthropathy 49
currarino disease 49
pdp 49


External Ids:

ICD10 via Orphanet26 M89.4
UMLS via Orphanet63 C2930922
SNOMED-CT via Orphanet59 88220006

Related Diseases for Cranio Osteoarthropathy

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Cranio Osteoarthropathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1primary hypertrophic osteoarthropathy30.9SLCO2A1, HPGD
2myelofibrosis10.3
3cutis verticis gyrata10.1
4protein-losing enteropathy10.0
5secondary hypertrophic osteoarthropathy10.0
6gynecomastia10.0
7acanthosis nigricans10.0
8folliculitis10.0
9amyloidosis10.0
10osteoporosis10.0
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

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

167100

Clinical features from OMIM:

259100,167100,614441

Symptoms:

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

Drugs & Therapeutics for Cranio Osteoarthropathy

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Cranio Osteoarthropathy

Search NIH Clinical Center for Cranio Osteoarthropathy

Genetic Tests for Cranio Osteoarthropathy

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Anatomical Context for Cranio Osteoarthropathy

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Sources:
33MalaCards
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MalaCards organs/tissues related to Cranio Osteoarthropathy:

33
Bone, Heart, Skin, Breast, Liver, Lung, Bone marrow

Animal Models for Cranio Osteoarthropathy or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Cranio Osteoarthropathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1SLCO2A1, HPGD

Publications for Cranio Osteoarthropathy

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Sources:
52PubMed
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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

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1
id Gene Name Type Significance SNP ID Assembly Location
1HPGDHPGD, 10-BP DEL/2-BP INS, NT232indelPathogenic
2HPGDHPGD, 2-BP DEL, 175CTdeletionPathogenic

Expression for genes affiliated with Cranio Osteoarthropathy

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Sources:
2BioGPS, 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:
45Novoseek, 29IUPHAR, 61Tocris Bioscience, 11DrugBank, 24HMDB
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Compounds related to Cranio Osteoarthropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(+-)-pgf2-alpha459.3SLCO2A1, HPGD
2prostaglandin f2alpha459.2HPGD, SLCO2A1
3pge1459.2HPGD, SLCO2A1
4prostaglandin459.1SLCO2A1, HPGD
5pge2459.1SLCO2A1, HPGD
6indomethacin45 29 61 1112.0SLCO2A1, HPGD
7arachidonic acid45 29 24 1111.8SLCO2A1, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet