Details of Disease

General Information of Disease (ID: DISJ5ZZB)

Disease Name Cranio-osteoarthropathy
Synonyms cranio osteoarthropathy; Reginato-Schiapachasse syndrome; Currarino disease; Currarino idiopathic osteoarthropathy
Definition Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.
Disease Hierarchy
DISQO9V4: Primary hypertrophic osteoarthropathy
DISJ5ZZB: Cranio-osteoarthropathy
Disease Identifiers
MONDO ID
MONDO_0015466
MESH ID
D010004
UMLS CUI
C2678439
MedGen ID
394824
Orphanet ID
1525
SNOMED CT ID
720753002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLCO2A1 TTKVTQO Strong GermlineCausalMutation [1]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
HPGD DEHKSC6 Limited Biomarker [2]
HPGD DEHKSC6 Supportive Autosomal recessive [3]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HPGD OTYZI6JB Supportive Autosomal recessive [3]
NUDT19 OT0D7GC4 Strong Biomarker [4]
NUDT7 OTCPOQ6W Strong Biomarker [4]
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References

1 Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing.Hum Mutat. 2012 Apr;33(4):660-4. doi: 10.1002/humu.22042. Epub 2012 Feb 24.
2 Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. Chem Biol Interact. 2015 Jun 5;234:114-25.
3 Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet. 2008 Jun;40(6):789-93. doi: 10.1038/ng.153. Epub 2008 May 25.
4 Nudt19 is a renal CoA diphosphohydrolase with biochemical and regulatory properties that are distinct from the hepatic Nudt7 isoform.J Biol Chem. 2018 Mar 16;293(11):4134-4148. doi: 10.1074/jbc.RA117.001358. Epub 2018 Jan 29.