Details of Disease | DrugMAP

General Information of Disease (ID: DISED8FH)

Disease Name	Frasier syndrome
Synonyms	Frasier syndrome; Frasier syndrome, autosomal dominant, somatic mutation
Definition	Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS3HIWD: Autosomal dominant disease DIS78CGG: 46,XY disorder of sex development DISED8FH: Frasier syndrome
Disease Identifiers	MONDO ID MONDO_0007635 MESH ID D052159 UMLS CUI C0950122 OMIM ID 136680 MedGen ID 215533 Orphanet ID 347 SNOMED CT ID 445431000

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
WT1	OTP7KC3D	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
WT1	TTZ8UT4	Limited	CausalMutation	[2]
WT1	TTZ8UT4	Definitive	Autosomal dominant	[1]
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References

1	Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. Hum Mol Genet. 1998 Apr;7(4):709-14. doi: 10.1093/hmg/7.4.709.
2	Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.Pediatr Nephrol. 2017 Jul;32(7):1181-1192. doi: 10.1007/s00467-017-3590-y. Epub 2017 Feb 15.