Details of Disease

General Information of Disease (ID: DISQH6P3)

• Disease Name: Shprintzen-Goldberg syndrome
• Synonyms: Marfanoid-craniosynostosis syndrome; Shprintzen-Goldberg marfanoid syndrome; Shprintzen-Goldberg craniosynostosis syndrome; Marfanoid disorder with craniosynostosis type 1; Marfanoid disorder with craniosynostosis, type 1; craniosynostosis with arachnodactyly and abdominal hernias; Marfanoid craniosynostosis syndrome; SGS; Shprintzen-Goldberg syndrome; Shprintzen Goldberg Syndrome
• Definition: Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
• Disease Hierarchy:
  DISME1TG: Marfan and Marfan-related disorder
  DISEUVBK: Syndromic craniosynostosis
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISQH6P3: Shprintzen-Goldberg syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008426
  MESH ID: C537328
  UMLS CUI: C1321551
  OMIM ID: 182212
  MedGen ID: 231160
  Orphanet ID: 2462
  SNOMED CT ID: 719069008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC25A1	TTTD730	moderate	Genetic Variation	[1]
APOL1	TTDB8PW	Strong	Biomarker	[2]
RPS6KB2	TTMVQXO	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PRODH	DEVJIHS	moderate	Biomarker	[4]

This Disease Is Related to 21 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDC45	OT6NNLOD	moderate	Biomarker	[5]
CRKL	OTOYSD1R	moderate	Biomarker	[6]
CECR2	OTF54V3W	Strong	Genetic Variation	[7]
CELF2	OTLJJ4VT	Strong	Genetic Variation	[8]
CHD7	OTHNIZWZ	Strong	Genetic Variation	[9]
CPO	OTOIG8C9	Strong	Biomarker	[10]
DGCR2	OTEGL17Z	Strong	Biomarker	[11]
DGCR6	OTBOXM33	Strong	Biomarker	[12]
DGCR8	OT62LXE4	Strong	Genetic Variation	[13]
EYA1	OTHU807A	Strong	Genetic Variation	[14]
FOXN1	OTE80D6I	Strong	Genetic Variation	[15]
GNB1L	OTXSUD8R	Strong	Biomarker	[16]
HIRA	OTON40EJ	Strong	Biomarker	[17]
LAMC1	OTIG527N	Strong	Biomarker	[18]
NKX2-6	OTPPKGTE	Strong	Biomarker	[19]
PRDM9	OTWAHLUR	Strong	Genetic Variation	[20]
RANBP1	OTQE226K	Strong	Biomarker	[21]
SEPTIN5	OT6JTJBO	Strong	Biomarker	[22]
SLC7A4	OTAVC6QS	Strong	Biomarker	[23]
FBN1	OTYCJT63	Definitive	Autosomal dominant	[24]
SKI	OT4KJ8F6	Definitive	Autosomal dominant	[25]

References

• [1] The human mitochondrial citrate transporter gene (SLC20A3) maps to chromosome band 22q11 within a region implicated in DiGeorge syndrome, velo-cardio-facial syndrome and schizophrenia.Hum Genet. 1996 Jul;98(1):113-5. doi: 10.1007/s004390050169.
• [2] Gene expression analysis in schizophrenia: reproducible up-regulation of several members of the apolipoprotein L family located in a high-susceptibility locus for schizophrenia on chromosome 22.Proc Natl Acad Sci U S A. 2002 Apr 2;99(7):4680-5. doi: 10.1073/pnas.032069099.
• [3] Employing bioabsorbable grafts in two-stage laryngotracheal reconstruction of pediatric patient with severe subglottic stenosis and history of airway surgery.Int J Pediatr Otorhinolaryngol. 2018 Dec;115:58-60. doi: 10.1016/j.ijporl.2018.09.013. Epub 2018 Sep 19.
• [4] Functional consequences of PRODH missense mutations.Am J Hum Genet. 2005 Mar;76(3):409-20. doi: 10.1086/428142. Epub 2005 Jan 20.
• [5] UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?.Trends Genet. 1999 Jul;15(7):251-4. doi: 10.1016/s0168-9525(99)01772-2.
• [6] 22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.Am J Med Genet A. 2019 Mar;179(3):404-409. doi: 10.1002/ajmg.a.61032. Epub 2019 Jan 9.
• [7] Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype.Prenat Diagn. 2006 Oct;26(10):898-902. doi: 10.1002/pd.1520.
• [8] Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p.J Mol Med (Berl). 2002 Jul;80(7):431-42. doi: 10.1007/s00109-002-0331-9. Epub 2002 Apr 4.
• [9] Establishment of immunity against Epstein-Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion.Pediatr Transplant. 2019 Jun;23(4):e13424. doi: 10.1111/petr.13424. Epub 2019 Apr 29.
• [10] Prevalence of duplications and deletions of the 22q11 DiGeorge syndrome region in a population-based sample of infants with cleft palate.Am J Med Genet A. 2007 Jan 15;143A(2):129-34. doi: 10.1002/ajmg.a.31445.
• [11] The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis.Biol Psychiatry. 2018 Apr 15;83(8):692-706. doi: 10.1016/j.biopsych.2017.11.015. Epub 2017 Nov 21.
• [12] GABA(B) receptor subunit 1 binds to proteins affected in 22q11 deletion syndrome.Biochem Biophys Res Commun. 2010 Mar 5;393(2):185-9. doi: 10.1016/j.bbrc.2009.12.120. Epub 2009 Dec 28.
• [13] Deletion of DGCR8 in VSMCs of adult mice results in loss of vascular reactivity, reduced blood pressure and neointima formation.Sci Rep. 2018 Jan 23;8(1):1468. doi: 10.1038/s41598-018-19660-z.
• [14] EYA1 mutation in a newborn female presenting with cardiofacial syndrome.Pediatr Cardiol. 2004 Jul-Aug;25(4):411-3. doi: 10.1007/s00246-003-0271-3.
• [15] Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome.J Allergy Clin Immunol. 2020 Jan;145(1):358-367.e2. doi: 10.1016/j.jaci.2019.09.020. Epub 2019 Oct 7.
• [16] GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide.Biochim Biophys Acta. 2000 Nov 15;1494(1-2):185-8. doi: 10.1016/s0167-4781(00)00189-5.
• [17] Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion.Prenat Diagn. 2006 Dec;26(13):1212-5. doi: 10.1002/pd.1590.
• [18] Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes.Hum Mol Genet. 1996 May;5(5):633-8. doi: 10.1093/hmg/5.5.633.
• [19] Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.J Med Genet. 2014 Apr;51(4):268-70. doi: 10.1136/jmedgenet-2013-102100. Epub 2014 Jan 13.
• [20] Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction.Hum Genet. 2012 Sep;131(9):1519-24. doi: 10.1007/s00439-012-1180-4. Epub 2012 May 30.
• [21] RanBP1, a velocardiofacial/DiGeorge syndrome candidate gene, is expressed at sites of mesenchymal/epithelial induction.Mech Dev. 2002 Feb;111(1-2):177-80. doi: 10.1016/s0925-4773(01)00616-5.
• [22] A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11.Hum Genet. 1997 Nov;101(1):6-12. doi: 10.1007/s004390050576.
• [23] The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.Genomics. 1998 Apr 15;49(2):230-6. doi: 10.1006/geno.1998.5252.
• [24] Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts. Hum Genet. 1993 Jan;90(5):511-5. doi: 10.1007/BF00217450.
• [25] 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.