Details of Disease

General Information of Disease (ID: DISLJHE3)

• Disease Name: PERCHING syndrome
• Synonyms: CRISPONI/cold-induced sweating syndrome 3; Crisponi/cold-induced sweating syndrome 3; cold-induced sweating syndrome 3; cold-induced sweating syndrome type 3; KLHL7 cold-induced sweating syndrome; PERCHING; Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations;and facial Gestalt/grimacing and Genitourinary abnormalities; KLHL7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome; CISS3; cold-induced sweating syndrome caused by mutation in KLHL7
• Definition: Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.
• Disease Hierarchy:
  DISSVMUD: Cold-induced sweating syndrome
  DISLJHE3: PERCHING syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014890
  UMLS CUI: C4310742
  OMIM ID: 617055
  MedGen ID: 934709
  Orphanet ID: 603684

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KLHL7	OT2OF1O8	Definitive	Autosomal recessive	[1]

References

• [1] Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026.