Details of Disease | DrugMAP

General Information of Disease (ID: DISHGCOR)

Disease Name	LADD syndrome 1
Synonyms	lacrimoauriculodentodigital syndrome 1; LADD1
Definition	Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene.
Disease Hierarchy	DISH8TQ5: LADD syndrome DISHGCOR: LADD syndrome 1
Disease Identifiers	MONDO ID MONDO_0100302 UMLS CUI C5774323 MedGen ID 1824096

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGF10	TTNPEFX	Definitive	Autosomal dominant	[1]
FGFR2	TTGJVQM	Definitive	Autosomal dominant	[2]
FGFR3	TTST7KB	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGF10	OTDSATGA	Definitive	Autosomal dominant	[1]
FGFR2	OTLOPACK	Definitive	Autosomal dominant	[2]
FGFR3	OTSAXDIL	Definitive	Autosomal dominant	[1]
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References

1	Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.