Details of Disease | DrugMAP

General Information of Disease (ID: DISSBXAV)

Disease Name	Schinzel-Giedion syndrome
Synonyms	Schinzel-Giedion midface retraction syndrome; Sgs; Schinzel Giedion midface-retraction syndrome; Schinzel Giedion syndrome; SGS; Schinzel-Giedion midface-retraction syndrome; Schinzel Giedion Syndrome; Schinzel-Giedion syndrome
Definition	Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DIS2BIP8: Congenital nervous system disorder DISH7SDF: Syndromic intellectual disability DISD715V: Hereditary neurological disease DISLRS4M: Ectodermal dysplasia DISSBXAV: Schinzel-Giedion syndrome
Disease Identifiers	MONDO ID MONDO_0010010 MESH ID C536632 UMLS CUI C0265227 OMIM ID 269150 MedGen ID 120517 Orphanet ID 798 SNOMED CT ID 18899000

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
RPS6KB2	TTMVQXO	Strong	Genetic Variation	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL1RAPL2	OTP7IOJO	Definitive	Genetic Variation	[2]
SETBP1	OTKGCOSR	Definitive	Autosomal dominant	[3]
------------------------------------------------------------------------------------

References

1	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.
2	Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis.J Hum Genet. 2007;52(5):397-405. doi: 10.1007/s10038-007-0127-4. Epub 2007 Apr 4.
3	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.