Details of Disease

Disease Name

X-linked chondrodysplasia punctata 2

CDPX2; EBP chondrodysplasia punctata; X-linked chondrodysplasia punctata type 2; Conradi-Hunermann-Happle syndrome; Conradi Hunermann syndrome; chondrodysplasia punctata 2 X-linked dominant; Conrad Hunermann Happle syndrome; CDPXD; Happle syndrome; Conradi Hnermann Syndrome; chondrodysplasia punctata 2, X-linked dominant; Conradi-Hnermann-Happle syndrome; chondrodysplasia punctata caused by mutation in EBP; Conradi-Hunermann syndrome; chondrodysplasia punctata, X-linked dominant, X-linked dominant

Definition

A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

Disease Hierarchy

DISERVGO: Chondrodysplasia punctata

DISU9RLP: X-linked chondrodysplasia punctata

DISSCALK: Hereditary skin disorder

DISI20G2: X-linked chondrodysplasia punctata 2

Disease Identifiers

MONDO ID

MONDO_0020603

MESH ID

D002806

UMLS CUI

C0282102

OMIM ID

302960

MedGen ID

79381

Orphanet ID

35173

SNOMED CT ID

398719004

General Information of Disease (ID: DISI20G2)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Lovastatin	DM9OZWQ	Approved	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EBP	TT4VQZX	Strong	Biomarker	[2]
FDFT1	TTFQEO5	Strong	Biomarker	[3]
PORCN	TTNFBTO	Strong	Biomarker	[4]
EBP	TT4VQZX	Definitive	X-linked	[5]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNPAT	OTF6LWPO	Strong	Biomarker	[6]
NSDHL	OTK3EJFD	Strong	Genetic Variation	[7]
EBP	OTSMGKXQ	Definitive	X-linked	[5]
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References

1	Lovastatin FDA Label
2	X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report.Medicine (Baltimore). 2019 Jan;98(1):e13850. doi: 10.1097/MD.0000000000013850.
3	Genetic disorders of cholesterol biosynthesis in mice and humans.Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. doi: 10.1006/mgme.2001.3226.
4	PORCN mutations in focal dermal hypoplasia: coping with lethality.Hum Mutat. 2009 May;30(5):E618-28. doi: 10.1002/humu.20992.
5	Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hnermann syndrome. Nat Genet. 1999 Jul;22(3):291-4. doi: 10.1038/10357.
6	X-linked dominant chondrodysplasia punctata with decreased dihydroxyacetone phosphate acyltransferase activity.Dermatology. 1996;192(1):23-7. doi: 10.1159/000246308.
7	Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.Am J Med Genet A. 2019 Jul;179(7):1315-1318. doi: 10.1002/ajmg.a.61159. Epub 2019 Apr 29.