Details of Disease

General Information of Disease (ID: DIS4JXZ4)

Disease Name Roberts-SC phocomelia syndrome
Synonyms
SC phocomelia syndrome (mild variant of Roberts syndrome); SC phocomelia; SC pseudothalidomide syndrome; tetraphocomelia-cleft palate syndrome; Appelt-Gerken-Lenz syndrome; Roberts-SC phocomelia syndrome; ESCO2 spectrum disorder; RBS; Roberts syndrome; long bone deficiencies associated with cleft lip-palate; hypomelia hypotrichosis facial hemangioma syndrome; Roberts tetraphocomelia syndrome; phocomelia-pseudothalidomide syndrome; pseudothalidomide syndrome; SC phocomelia syndrome; Roberts syndrome/SC phocomelia
Definition A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISCPWH9: Autosomal recessive disease
DIS5M94B: Non-syndromic limb reduction defect
DIS4JXZ4: Roberts-SC phocomelia syndrome
Disease Identifiers
MONDO ID
MONDO_0100253
MESH ID
C535687
UMLS CUI
C0392475
OMIM ID
268300
MedGen ID
95931
SNOMED CT ID
48718006

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
MELTF TT8OBT3 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
DDX11 OT1WR3MD Strong Biomarker [2]
ESCO1 OTZ9P12A Strong Genetic Variation [3]
FTMT OTIUX6XG Strong Biomarker [1]
NIPBL OTF6OOLU Strong Biomarker [4]
SS18L1 OT9ZEGV7 Strong Biomarker [5]
ESCO2 OTJEMAQU Definitive Autosomal recessive [6]
SMC3 OTWGFRHD Definitive Biomarker [7]
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⏷ Show the Full List of 7 DOT(s)

References

1 The Role of Endotoxin in Sterile Inflammation After Implanted Acellular Dermal Matrix: Red Breast Syndrome Explained?.Aesthet Surg J. 2020 Mar 23;40(4):392-399. doi: 10.1093/asj/sjz208.
2 Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.Am J Hum Genet. 2010 Feb 12;86(2):262-6. doi: 10.1016/j.ajhg.2010.01.008. Epub 2010 Feb 4.
3 DNA polymerase 5 acetylation by Eso1 is essential for Schizosaccharomyces pombe viability.Int J Mol Med. 2017 Dec;40(6):1907-1913. doi: 10.3892/ijmm.2017.3192. Epub 2017 Oct 16.
4 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007 Mar;80(3):485-94. doi: 10.1086/511888. Epub 2007 Jan 17.
5 Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygote detection.Ann Genet. 1991;34(3-4):239-46.
6 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
7 A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle.PLoS One. 2011;6(5):e20051. doi: 10.1371/journal.pone.0020051. Epub 2011 May 26.