Details of Disease | DrugMAP

General Information of Disease (ID: DISY2RES)

Disease Name	Short rib-polydactyly syndrome
Definition	Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).
Disease Hierarchy	DIS6SVEE: Syndromic disease DISRBNBF: Short rib dysplasia DISH7BRI: Thoracic malformation DISY2RES: Short rib-polydactyly syndrome
Disease Identifiers	MONDO ID MONDO_0015461 MESH ID D012779 UMLS CUI C0036996 MedGen ID 11412 Orphanet ID 1505 SNOMED CT ID 205484001

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
NEK1	TTO5QT2	Strong	Biomarker	[1]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CILK1	OTWOYEYP	Limited	Genetic Variation	[2]
IFT52	OTFIVV9A	moderate	Genetic Variation	[3]
DYNC2H1	OTLC8K6B	Strong	Genetic Variation	[4]
DYNC2LI1	OT1X5YGJ	Strong	Genetic Variation	[5]
IFT80	OTMH0MBI	Strong	Biomarker	[6]
KIAA0586	OTOZRC1U	Strong	Genetic Variation	[7]
TCTN3	OTZSHERV	Strong	Genetic Variation	[8]
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⏷ Show the Full List of 7 DOT(s)

References

1	NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717.
2	Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice.Gene Expr Patterns. 2018 Sep;29:18-23. doi: 10.1016/j.gep.2018.04.005. Epub 2018 Apr 7.
3	IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. Hum Mol Genet. 2016 Sep 15;25(18):4012-4020. doi: 10.1093/hmg/ddw241. Epub 2016 Jul 27.
4	Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.Birth Defects Res. 2018 Mar 1;110(4):364-371. doi: 10.1002/bdr2.1146. Epub 2018 Jan 23.
5	Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun. 2015 Jun 16;6:7092. doi: 10.1038/ncomms8092.
6	An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.Hum Mol Genet. 2011 Apr 1;20(7):1306-14. doi: 10.1093/hmg/ddr013. Epub 2011 Jan 12.
7	Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. J Med Genet. 2015 Dec;52(12):830-9. doi: 10.1136/jmedgenet-2015-103316. Epub 2015 Sep 18.
8	TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet. 2012 Aug 10;91(2):372-8. doi: 10.1016/j.ajhg.2012.06.017.