cold-induced sweating syndrome 2
Findings
No curated finding names cold-induced sweating syndrome 2 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 CLCF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012467), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
12 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.
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 1 reported patient
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- Cold-induced sweatingHPOHP:0025278
- 1 of 1 reported patient
- Cubitus valgusHPOHP:0002967
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Limited elbow extensionHPOHP:0001377
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.
- CLCF1HGNC:17412
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
3 names
Resolves to: cold-induced sweating syndrome 2
- Also called
- CLCF1 cold-induced sweating syndromecold-induced sweating syndrome caused by mutation in CLCF1cold-induced sweating syndrome type 2