Details of Disease

General Information of Disease (ID: DISQ14EC)

Disease Name X-linked Opitz G/BBB syndrome
Synonyms
Opitz GBBB syndrome, type I; Opitz syndrome, X-linked; Opitz GBBB syndrome, type 1; hypertelorism with esophageal Abnormality and hypospadias; GBBB1; Opitz-G syndrome, type 1; hypertelorism-hypospadias syndrome; telecanthus-hypospadias syndrome; Opitz syndrome; Opitz Bbbg syndrome, type 1; Opitz GBBB syndrome, X-linked; Opitz G/BBB syndrome, X-linked; Opitz GBBB syndrome, type I, X-linked recessive; X-linked Opitz syndrome; X-linked Opitz G/BBB syndrome; XLOS; X-linked Opitz BBB/G syndrome
Definition X-linked form of Opitz G/BBB syndrome.
Disease Hierarchy
DIS3PN9X: X-linked disease
DIS1Q3HK: Opitz G/BBB syndrome
DISQ14EC: X-linked Opitz G/BBB syndrome
Disease Identifiers
MONDO ID
MONDO_0010222
MESH ID
C567932
UMLS CUI
C2936904
OMIM ID
300000
MedGen ID
424842
SNOMED CT ID
81771002

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
JAG2 TTOJY1B Strong Genetic Variation [1]
PPP2CA TTHTKNY Strong Biomarker [2]
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This Disease Is Related to 16 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TOPBP1 OT6UPZPD Limited Biomarker [3]
COIL OTP4I4DL Disputed Genetic Variation [4]
TRIM17 OTUJZUOS Disputed Genetic Variation [4]
CALN1 OTN2XE4T Strong Altered Expression [5]
DLX3 OTARP5SQ Strong Biomarker [6]
HERC6 OT7G9PQE Strong Biomarker [7]
IBSP OT29944Y Strong Genetic Variation [8]
IGBP1 OTTHH4YE Strong Altered Expression [9]
MID1IP1 OTFCORJM Strong Biomarker [10]
MID2 OTAAQNZA Strong Biomarker [11]
PIF1 OTUHKKVP Strong Biomarker [12]
SHC3 OT305NPA Strong Biomarker [13]
SOX18 OTPUMHWA Strong Altered Expression [7]
SPECC1L OT3WGZ73 Strong Genetic Variation [14]
TMSB10 OTLVZ13T Strong Biomarker [10]
MID1 OTWN1PGU Definitive X-linked [15]
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⏷ Show the Full List of 16 DOT(s)

References

1 Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: a family-based association study.Eur J Oral Sci. 2008 Dec;116(6):507-11. doi: 10.1111/j.1600-0722.2008.00574.x.
2 MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.Nat Genet. 2001 Nov;29(3):287-94. doi: 10.1038/ng762.
3 TopBP1 promotes malignant progression and correlates with poor prognosis in osteosarcoma.Eur Rev Med Pharmacol Sci. 2017 Sep;21(18):4022-4031.
4 New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet. 2000 Oct 12;9(17):2553-62. doi: 10.1093/hmg/9.17.2553.
5 Exosomal miR-675 from metastatic osteosarcoma promotes cell migration and invasion by targeting CALN1.Biochem Biophys Res Commun. 2018 Jun 2;500(2):170-176. doi: 10.1016/j.bbrc.2018.04.016. Epub 2018 Apr 11.
6 BMP-2 induced Dspp transcription is mediated by Dlx3/Osx signaling pathway in odontoblasts.Sci Rep. 2017 Sep 7;7(1):10775. doi: 10.1038/s41598-017-10908-8.
7 Heterogeneous expression and biological function of SOX18 in osteosaroma.J Cell Biochem. 2018 May;119(5):4184-4192. doi: 10.1002/jcb.26635. Epub 2018 Jan 22.
8 Titanium particles suppress expression of osteoblastic phenotype in human mesenchymal stem cells.J Orthop Res. 2002 Nov;20(6):1175-84. doi: 10.1016/S0736-0266(02)00076-1.
9 Developmental expression of alpha4 protein phosphatase regulatory subunit in tissues affected by Opitz syndrome.Dev Dyn. 2002 Aug;224(4):461-4. doi: 10.1002/dvdy.10125.
10 Mig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubules.BMC Cell Biol. 2004 Feb 29;5:9. doi: 10.1186/1471-2121-5-9.
11 MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders.BMC Cell Biol. 2002;3:1. doi: 10.1186/1471-2121-3-1. Epub 2002 Jan 4.
12 In vitro production of Spodoptera exigua multiple nucleopolyhedrovirus with enhanced insecticidal activity using a genotypically defined virus inoculum.J Biotechnol. 2017 Oct 10;259:19-25. doi: 10.1016/j.jbiotec.2017.08.001. Epub 2017 Aug 2.
13 Lentiviral Vector-Mediated SHC3 Silencing Exacerbates Oxidative Stress Injury in Nigral Dopamine Neurons by Regulating the PI3K-AKT-FoxO Signaling Pathway in Rats with Parkinson's Disease.Cell Physiol Biochem. 2018;49(3):971-984. doi: 10.1159/000493228. Epub 2018 Sep 5.
14 Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. Eur J Med Genet. 2019 Dec;62(12):103588. doi: 10.1016/j.ejmg.2018.11.022. Epub 2018 Nov 22.
15 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.