Details of Disease

General Information of Disease (ID: DISERVGO)

Disease Name Chondrodysplasia punctata
Synonyms CDP; chondrodysplasia calcificans congenita; chondrodysplasia punctata congenita; chondrodysplasia punctata (stippled epiphyses) Group
Definition A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DISERVGO: Chondrodysplasia punctata
Disease Identifiers
MONDO ID
MONDO_0019701
MESH ID
D002806
UMLS CUI
C0008445
MedGen ID
3052
Orphanet ID
93442
SNOMED CT ID
278715001

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
EBP TT4VQZX Strong Biomarker [1]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AGPS OTFBFPV4 Strong Biomarker [2]
ARSH OTG0X9UQ Strong Genetic Variation [3]
CLCN4 OT4A2UWF Strong Genetic Variation [4]
GNPAT OTF6LWPO Strong Biomarker [5]
NSDHL OTK3EJFD Strong Biomarker [6]
PEX7 OTM7VBRC Strong Biomarker [7]
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⏷ Show the Full List of 6 DOT(s)

References

1 Surgical management of cervical spine deformity in chondrodysplasia punctata.J Neurosurg Pediatr. 2017 Oct;20(4):378-387. doi: 10.3171/2017.5.PEDS16554. Epub 2017 Aug 11.
2 Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice.Mol Genet Metab. 2011 May;103(1):51-9. doi: 10.1016/j.ymgme.2011.02.002. Epub 2011 Feb 25.
3 A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell. 1995 Apr 7;81(1):15-25. doi: 10.1016/0092-8674(95)90367-4.
4 Lri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.Am J Med Genet. 1999 Apr 23;83(5):367-71. doi: 10.1002/(sici)1096-8628(19990423)83:5<367::aid-ajmg5>3.0.co;2-k.
5 Defects in myelination, paranode organization and Purkinje cell innervation in the ether lipid-deficient mouse cerebellum.Hum Mol Genet. 2009 Jun 1;18(11):1897-908. doi: 10.1093/hmg/ddp110. Epub 2009 Mar 8.
6 Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.Mol Genet Metab. 2005 Jan;84(1):48-60. doi: 10.1016/j.ymgme.2004.08.007.
7 A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.Mol Genet Metab. 2010 Apr;99(4):408-16. doi: 10.1016/j.ymgme.2009.12.005. Epub 2009 Dec 11.