Details of Disease

Disease Name

Isolated Pierre-Robin syndrome

sequence, Pierre Robin's; Pierre-Robin syndrome; Pierre Robin sequence; PRBNS; isolated Pierre Robin syndrome; sequence, Pierre Robin; sequence, Robin; Pierre Robin syndrome; Robin syndrome, Pierre; Pierre Robin's sequence; syndrome, Pierre Robin; Pierre Robins sequence; syndrome, Pierre-Robin; Robin sequence; Pierre Robin syndrome skeletal dysplasia polydactyly; glossoptosis, micrognathia, and cleft palate; Pierre Robin Sequence; isolated Pierre Robin sequence; isolated Pierre-Robin syndrome

Definition

Pierre-Robin syndrome (or Pierre-Robin sequence) is characterized by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.

Disease Hierarchy

DISB52BH: Eye disorder

DISVEHG7: Isolated Pierre-Robin syndrome

Disease Identifiers

MONDO ID

MONDO_0009869

MESH ID

D010855

UMLS CUI

C0031900

OMIM ID

261800

MedGen ID

19310

HPO ID

HP:0000201

Orphanet ID

718

SNOMED CT ID

4602007

General Information of Disease (ID: DISVEHG7)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BMP2	TTP3IGX	moderate	Genetic Variation	[1]
ACVR2A	TTX2DRI	Strong	Biomarker	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC26A2	DTFSLX5	Disputed	Genetic Variation	[3]
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This Disease Is Related to 16 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EBF3	OTB0IWLW	Limited	CausalMutation	[4]
MAP2K6	OTK13JKC	Disputed	Biomarker	[5]
PHAX	OTSHNJ6B	Disputed	Genetic Variation	[6]
SOX9	OTVDJFGN	Supportive	Autosomal dominant	[7]
RAB18	OTNMAQLS	moderate	Biomarker	[8]
COL11A1	OTB0DRMS	Strong	Genetic Variation	[9]
COL11A2	OT3BQUBH	Strong	Genetic Variation	[9]
DLX6	OT0FIJHY	Strong	Biomarker	[10]
EIF4A3	OTYYFE7K	Strong	Biomarker	[11]
MED13L	OTSP1W0F	Strong	Genetic Variation	[12]
SOX11	OT4LG7LA	Strong	Genetic Variation	[13]
TBC1D20	OTDL1T6E	Strong	Biomarker	[14]
BMPR1B	OTGFN0OD	Definitive	Genetic Variation	[15]
CALML3	OTM8DNQU	Definitive	Biomarker	[16]
COTL1	OT6YCNLF	Definitive	Biomarker	[16]
CSRP3	OTECBJMV	Definitive	Biomarker	[16]
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⏷ Show the Full List of 16 DOT(s)

References

1	Conditional deletion of Bmp2 in cranial neural crest cells recapitulates Pierre Robin sequence in mice.Cell Tissue Res. 2019 May;376(2):199-210. doi: 10.1007/s00441-018-2944-5. Epub 2018 Nov 9.
2	Different phenotypes for mice deficient in either activins or activin receptor type II.Nature. 1995 Mar 23;374(6520):356-60. doi: 10.1038/374356a0.
3	A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.Am J Med Genet A. 2013 Aug;161A(8):2088-94. doi: 10.1002/ajmg.a.36057. Epub 2013 Jul 9.
4	A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22.
5	A de novo 1.58Mb deletion, including MAP2K6 and mapping 1.28Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.Am J Med Genet A. 2015 Aug;167A(8):1842-50. doi: 10.1002/ajmg.a.37057. Epub 2015 Jun 8.
6	A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.Eur J Med Genet. 2014 Oct;57(10):587-95. doi: 10.1016/j.ejmg.2014.08.007. Epub 2014 Sep 3.
7	Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum Mutat. 2014 Aug;35(8):1011-20. doi: 10.1002/humu.22606.
8	ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18.Exp Neurol. 2015 May;267:143-51. doi: 10.1016/j.expneurol.2015.03.003. Epub 2015 Mar 13.
9	Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.Eur J Hum Genet. 2003 Mar;11(3):265-70. doi: 10.1038/sj.ejhg.5200950.
10	A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence.PLoS Genet. 2014 Apr 3;10(4):e1004257. doi: 10.1371/journal.pgen.1004257. eCollection 2014 Apr.
11	A review of craniofacial disorders caused by spliceosomal defects.Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596. Epub 2015 May 1.
12	MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.Am J Med Genet A. 2018 Jan;176(1):181-186. doi: 10.1002/ajmg.a.38536. Epub 2017 Nov 21.
13	Ablation of the Sox11 Gene Results in Clefting of the Secondary Palate Resembling the Pierre Robin Sequence.J Biol Chem. 2016 Mar 25;291(13):7107-18. doi: 10.1074/jbc.M115.690875. Epub 2016 Jan 29.
14	Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14.
15	BMPR1B mutation causes Pierre Robin sequence.Oncotarget. 2017 Apr 18;8(16):25864-25871. doi: 10.18632/oncotarget.16531.
16	Pathogenesis of Cleft Palate in Robin Sequence: Observations From Prenatal Magnetic Resonance Imaging.J Oral Maxillofac Surg. 2018 May;76(5):1058-1064. doi: 10.1016/j.joms.2017.10.006. Epub 2017 Oct 16.