Details of Disease | DrugMAP

General Information of Disease (ID: DISVI1YP)

Disease Name	Lethal polymalformative syndrome, Boissel type
Synonyms	GDFD; growth retardation, developmental delay, and facial dysmorphism; growth retardation, developmental delay, facial dysmorphism
Disease Hierarchy	DISYKSRF: Genetic disease DISOGTFT: Hereditary lethal multiple congenital anomalies/dysmorphic syndrome DISVI1YP: Lethal polymalformative syndrome, Boissel type
Disease Identifiers	MONDO ID MONDO_0013050 MESH ID C567856 UMLS CUI C2752001 OMIM ID 612938 MedGen ID 414158 Orphanet ID 210144

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
FTO	TTFW3BT	moderate	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FTO	OTXML85Y	Strong	Autosomal recessive	[2]
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References

1	Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.J Med Genet. 2016 Mar;53(3):200-7. doi: 10.1136/jmedgenet-2015-103399. Epub 2015 Sep 16.
2	Defects in brain patterning and head morphogenesis in the mouse mutant Fused toes. Dev Biol. 2007 Apr 1;304(1):208-20. doi: 10.1016/j.ydbio.2006.12.025. Epub 2006 Dec 15.