Details of Disease | DrugMAP

General Information of Disease (ID: DIS8RUBC)

Disease Name	Fibrochondrogenesis
Definition	Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.
Disease Hierarchy	DIS9SPWW: Osteochondrodysplasia DIS5Z8U6: Skeletal dysplasia DIS8RUBC: Fibrochondrogenesis
Disease Identifiers	MONDO ID MONDO_0016068 MESH ID C562524 UMLS CUI C0265282 MedGen ID 82700 Orphanet ID 2021 SNOMED CT ID 17144009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35D1	DTJ5CF0	Definitive	Genetic Variation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL11A1	OTB0DRMS	Supportive	Autosomal dominant	[2]
COL11A2	OT3BQUBH	Supportive	Autosomal dominant	[3]
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References

1	Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet. 2009 Aug;46(8):562-8. doi: 10.1136/jmg.2008.065201. Epub 2009 Jun 8.
2	Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct 28.
3	Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. Am J Med Genet A. 2012 Feb;158A(2):309-14. doi: 10.1002/ajmg.a.34406. Epub 2012 Jan 13.