Details of Disease

General Information of Disease (ID: DISWU9AH)

• Disease Name: Finnish type amyloidosis
• Synonyms: amyloidosis V; amyloid cranial neuropathy with lattice corneal dystrophy; hereditary gelsolin amyloidosis; amyloidosis due to mutant gelsolin; cerebral amyloid angiopathy, Gsn-related; amyloidosis, Meretoja type; AGel amyloidosis; amyloidosis, Finnish type; meretoja type amyloidosis; lattice corneal dystrophy, type 2; lattice corneal dystrophy type II Finnish; amyloidosis 5; corneal dystrophy, lattice type 2; gelsolin amyloidosis; meretoja syndrome; hereditary amyloidosis, Finnish type; amyloidosis, MERETOJA type; familial amyloid polyneuropathy type IV; familial amyloidosis, Finnish type
• Disease Hierarchy:
  DISSYRHC: Hereditary peripheral neuropathy
  DIS6SVEE: Syndromic disease
  DIS1GS6H: Hereditary amyloidosis
  DISRDPA6: Corneal dystrophy
  DISWU9AH: Finnish type amyloidosis
• Disease Identifiers:
  MONDO ID: MONDO_0007097
  MESH ID: C537459
  UMLS CUI: C1622345
  OMIM ID: 105120
  MedGen ID: 301243
  Orphanet ID: 85448

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FANCF	TTNZKFJ	moderate	Biomarker	[1]
GSN	TTUH7OM	Strong	Biomarker	[2]
GSN	TTUH7OM	Definitive	Autosomal recessive	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GSN	OT4KS2UU	Definitive	Autosomal recessive	[3]

References

• [1] Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.Br J Ophthalmol. 2000 Apr;84(4):390-4. doi: 10.1136/bjo.84.4.390.
• [2] Renal amyloidosis associated with a novel sequence variant of gelsolin.Am J Kidney Dis. 2013 Jan;61(1):161-6. doi: 10.1053/j.ajkd.2012.07.016. Epub 2012 Aug 30.
• [3] 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.