Details of Disease | DrugMAP

General Information of Disease (ID: DIS7XDNC)

Disease Name	Tall stature-intellectual disability-renal anomalies syndrome
Synonyms	THAUVIN-robinet-Faivre syndrome; TROFAS; Thauvin-robinet-Faivre syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DIS7XDNC: Tall stature-intellectual disability-renal anomalies syndrome
Disease Identifiers	MONDO ID MONDO_0014918 UMLS CUI C4310715 OMIM ID 617107 MedGen ID 934682 Orphanet ID 500095 SNOMED CT ID 1169359006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FIBP	OTI7131S	Strong	Autosomal recessive	[1]
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References

1	Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. Clin Genet. 2016 May;89(5):e1-4. doi: 10.1111/cge.12704. Epub 2016 Jan 20.