Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.

American journal of human genetics - 1 Feb 2003

Knappskog Per M, Majewski Jacek, Livneh Avi, Nilsen Per Torgeir E, Bringsli Jorunn S, Ott Jürg, Boman Helge

Abstract excerpt

In 1978, Sohar et al. described a strikingly peculiar syndrome in two Israeli sisters. These young women responded to environmental temperatures of 18 degrees C-7 degrees C with profuse sweating on large segments on their back and chest. Both had additional abnormalities, including a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend their elbows, and kyphoscoliosis. We have...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 19
Share to Cold Temperature

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Homozygote

Share to Lod Score

Share to Receptors, Cytokine

Share to Siblings

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 12509788
DOI: 10.1086/346120
PMCID: PMC379230

Genes

CRLF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.PMID 12509788Read ↗

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.Semantic proximity Read ↗

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.Semantic proximity Read ↗

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.Semantic proximity Read ↗

Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.Semantic proximity Read ↗

Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome.Semantic proximity Read ↗

Mutations in CRLF1 cause familial achalasia.Semantic proximity Read ↗

CRLF1 and CLCF1 in Development, Health and DiseaseSemantic proximity Read ↗

Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.Semantic proximity Read ↗

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.Semantic proximity Read ↗

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.Semantic proximity Read ↗

Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome.Semantic proximity Read ↗

Crisponi/CISS1 syndrome: A case series.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.