Details of Disease | DrugMAP

General Information of Disease (ID: DIS3UI0M)

Disease Name	Lamb-Shaffer syndrome
Synonyms	Lamb-Shaffer syndrome; Lamb-Shaffer syndrome; LAMSHF; LAMSHF
Disease Hierarchy	DISYKSRF: Genetic disease DIS3UI0M: Lamb-Shaffer syndrome
Disease Identifiers	MONDO ID MONDO_0014778 UMLS CUI C4225202 OMIM ID 616803 MedGen ID 903542 Orphanet ID 530983 SNOMED CT ID 1251453008

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
SOX5	TTXHSZK	moderate	Genetic Variation	[1]
SOX5	TTXHSZK	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SOX8	OTEJXYZM	Strong	Biomarker	[3]
SOX5	OTEVJHMZ	Definitive	Autosomal dominant	[2]
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References

1	Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3.
2	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.
3	Roles and regulation of SOX transcription factors in skeletogenesis.Curr Top Dev Biol. 2019;133:171-193. doi: 10.1016/bs.ctdb.2019.01.007. Epub 2019 Feb 26.