PERCHING syndrome
MONDO:0014890Mondo
Findings
No curated finding names PERCHING syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.
Definition from the Mondo Disease Ontology (MONDO:0014890), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CamptodactylyHPOHP:0012385
- 5 of 5 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 5 of 5 reported patients
- DysphagiaHPOHP:0002015
- 5 of 5 reported patients
- Feeding difficultiesHPOHP:0011968
- 5 of 5 reported patients
- FeverHPOHP:0001945
- 4 of 4 reported patients
- High palateHPOHP:0000218
- 4 of 4 reported patients
- Full cheeksHPOHP:0000293
Show the remaining 1
- ScoliosisHPOHP:0002650
- 0 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KLHL7HGNC:15646
- Definitive · Illumina · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
6 names
Resolves to: PERCHING syndrome
- Also called
- CISS3cold-induced sweating syndrome caused by mutation in KLHL7cold-induced sweating syndrome type 3KLHL7 cold-induced sweating syndromeKLHL7-related bohring-opitz-like/cold-induced sweating-like overlap syndromePERCHING