Details of Disease

General Information of Disease (ID: DISP3IK3)

• Disease Name: Perrault syndrome 1
• Synonyms: gonadal dysgenesis, 20 type, with deafness; ovarian dysgenesis with sensorineural deafness; PRLTS1; Perrault syndrome type 1; HSD17B4 Perrault syndrome; Perrault syndrome 1; Perrault syndrome caused by mutation in HSD17B4
• Definition: Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.
• Disease Hierarchy:
  DISG2YOV: Perrault syndrome
  DISP3IK3: Perrault syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0009300
  UMLS CUI: C4551721
  OMIM ID: 233400
  MedGen ID: 1640257

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSD17B4	TTL1WGS	Strong	Genetic Variation	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HSD17B4	DEJHG19	Strong	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLPP	OTEPHG0S	Limited	Biomarker	[3]
HSD17B4	OT8733D7	Strong	Autosomal recessive	[2]

References

• [1] Expanding the genotypic spectrum of Perrault syndrome.Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1.
• [2] Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. Neurology. 2014 Mar 18;82(11):963-8. doi: 10.1212/WNL.0000000000000219. Epub 2014 Feb 19.
• [3] Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.Hum Mol Genet. 2013 Dec 15;22(24):4871-87. doi: 10.1093/hmg/ddt338. Epub 2013 Jul 12.