Details of Disease | DrugMAP

General Information of Disease (ID: DIS8BYL7)

Disease Name	Marshall-Smith syndrome
Synonyms	MRSHSS; Marshall-SMITH syndrome; accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome; Marshall-Smith syndrome
Definition	Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DIS6SVEE: Syndromic disease DIS5Z8U6: Skeletal dysplasia DISHK54G: Overgrowth syndrome DIS8BYL7: Marshall-Smith syndrome
Disease Identifiers	MONDO ID MONDO_0011244 MESH ID C536026 UMLS CUI C0265211 OMIM ID 602535 MedGen ID 75551 Orphanet ID 561 SNOMED CT ID 73284007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NFIC	OTLMCUIB	Definitive	Genetic Variation	[1]
NFIX	OT1DPZAE	Definitive	Autosomal dominant	[2]
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References

1	NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.Eur J Med Genet. 2015 Sep;58(9):488-91. doi: 10.1016/j.ejmg.2015.06.009. Epub 2015 Jul 17.
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.