MCID: CLD004
MIFTS: 18

Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

MalaCards integrated aliases for Cold-Induced Sweating Syndrome Including Crisponi Syndrome:

Name: Cold-Induced Sweating Syndrome Including Crisponi Syndrome 24
Crisponi/cold-Induced Sweating Syndrome 6

Classifications:



Summaries for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

MalaCards based summary : Cold-Induced Sweating Syndrome Including Crisponi Syndrome, also known as crisponi/cold-induced sweating syndrome, is related to cold-induced sweating syndrome and crisponi/cold-induced sweating syndrome 1. An important gene associated with Cold-Induced Sweating Syndrome Including Crisponi Syndrome is CRLF1 (Cytokine Receptor Like Factor 1), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Interleukin-6 family signaling.

GeneReviews: NBK52917

Related Diseases for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Graphical network of the top 20 diseases related to Cold-Induced Sweating Syndrome Including Crisponi Syndrome:



Diseases related to Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Symptoms & Phenotypes for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Drugs & Therapeutics for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Search Clinical Trials , NIH Clinical Center for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Genetic Tests for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Anatomical Context for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Publications for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Articles related to Cold-Induced Sweating Syndrome Including Crisponi Syndrome:

(show all 36)
# Title Authors PMID Year
1
Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1. 4
26565815 2016
2
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. 4
26763878 2016
3
Cardiotrophin-like cytokine factor 1 (CLCF1) and neuropoietin (NP) signalling and their roles in development, adulthood, cancer and degenerative disorders. 4
26198769 2015
4
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. 4
25683120 2015
5
Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy. 4
25540807 2014
6
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. 4
24488861 2014
7
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. 4
24075186 2013
8
Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene. 4
23026229 2013
9
Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome. 4
23181498 2012
10
Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome. 4
22381110 2012
11
Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome. 4
21691203 2011
12
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. 4
21326283 2011
13
Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. 4
20975058 2010
14
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. 4
20400119 2010
15
Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. 4
20187881 2010
16
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity. 4
20447141 2010
17
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. 4
20186812 2010
18
Crisponi syndrome: a new case with additional features and new mutation in CRLF1. 4
19012339 2008
19
Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus. 4
18837055 2008
20
Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report. 4
18546280 2008
21
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. 4
17436251 2007
22
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. 4
17436252 2007
23
Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity. 4
16952376 2006
24
Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. 4
16782820 2006
25
Target-dependent specification of the neurotransmitter phenotype: cholinergic differentiation of sympathetic neurons is mediated in vivo by gp 130 signaling. 4
16319110 2006
26
Principles of interleukin (IL)-6-type cytokine signalling and its regulation. 4
12773095 2003
27
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. 4
12687669 2003
28
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. 4
12509788 2003
29
Induction of cholinergic function in cultured sympathetic neurons by periosteal cells: cellular mechanisms. 4
11412023 2001
30
Developmental changes in the transmitter properties of sympathetic neurons that innervate the periosteum. 4
10662839 2000
31
A sweat gland-derived differentiation activity acts through known cytokine signaling pathways. 4
9374533 1997
32
Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome? 4
8723066 1996
33
Cardiotrophin-1 is not the sweat gland-derived differentiation factor. 4
8742412 1995
34
Cold-induced profuse sweating on back and chest. A new genetic entity? 4
82089 1978
35
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. 38
30859550 2019
36
Cold-Induced Sweating Syndrome Including Crisponi Syndrome 38
21370513 2011

Variations for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

ClinVar genetic disease variations for Cold-Induced Sweating Syndrome Including Crisponi Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CRLF1 NM_004750.5(CRLF1): c.829del (p.Arg277fs) deletion Pathogenic 19:18707728-18707728 19:18596919-18596919

Expression for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Search GEO for disease gene expression data for Cold-Induced Sweating Syndrome Including Crisponi Syndrome.

Pathways for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

GO Terms for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Cellular components related to Cold-Induced Sweating Syndrome Including Crisponi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 CRLF-CLCF1 complex GO:0097058 8.62 CRLF1 CLCF1

Biological processes related to Cold-Induced Sweating Syndrome Including Crisponi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.26 CRLF1 CLCF1
2 cytokine-mediated signaling pathway GO:0019221 9.16 CRLF1 CLCF1
3 negative regulation of neuron apoptotic process GO:0043524 8.96 CRLF1 CLCF1
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 8.62 CRLF1 CLCF1

Molecular functions related to Cold-Induced Sweating Syndrome Including Crisponi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.16 CRLF1 CLCF1
2 cytokine activity GO:0005125 8.96 CRLF1 CLCF1
3 ciliary neurotrophic factor receptor binding GO:0005127 8.62 CRLF1 CLCF1

Sources for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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