Cold-Induced Sweating Syndrome Including Crisponi Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CLD004 MIFTS: 17	Cold-Induced Sweating Syndrome Including Crisponi Syndrome Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

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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 epileptic encephalopathy, early infantile, 11 and cold-induced sweating syndrome. 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

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Related Diseases for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Diseases in the Cold-Induced Sweating Syndrome Including Crisponi Syndrome family:

Crisponi/cold-Induced Sweating Syndrome 1

Crisponi/cold-Induced Sweating Syndrome 2

Diseases related to Cold-Induced Sweating Syndrome Including Crisponi Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	epileptic encephalopathy, early infantile, 11	30.0	CRLF1 CLCF1
2	cold-induced sweating syndrome	29.8	CRLF1 CLCF1
3	crisponi/cold-induced sweating syndrome 1	29.6	CRLF1 CLCF1
4	crisponi/cold-induced sweating syndrome 2	29.4	CRLF1 CLCF1
5	perching syndrome	12.7
6	schaaf-yang syndrome	10.5
7	congenital contractures of the limbs and face, hypotonia, and developmental delay	10.5
8	early infantile epileptic encephalopathy	10.5
9	autosomal recessive disease	10.5
10	congenital contractures	10.5
11	hypotonia	10.5
12	retinitis pigmentosa	10.4
13	neuroretinitis	10.4
14	retinitis	10.4
15	scoliosis	10.4

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

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

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

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

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Genetic Tests for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

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Anatomical Context for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

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Publications for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

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

(show all 37)

#	Title	Authors	PMID	Year
1	Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1. ²⁴	Testani E...Valeriani M	26565815	2016
2	De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. ²⁴	Fukai R...Matsumoto N	26763878	2016
3	Cardiotrophin-like cytokine factor 1 (CLCF1) and neuropoietin (NP) signalling and their roles in development, adulthood, cancer and degenerative disorders. ²⁴	Sims NA	26198769	2015
4	De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. ²⁴	Chong JX...Bamshad MJ	25683120	2015
5	Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy. ²⁴	Melone MA...Boman H	25540807	2014
6	Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. ²⁴	Piras R...Rutsch F	24488861	2014
7	Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. ²⁴	Al-Sayed MD...Kaya N	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. ²⁴	Tuysuz B...Boman H	23026229	2013
9	Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome. ²⁴	Hakan N...Ceylaner S	23181498	2012
10	Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome. ²⁴	Dessi A...Ottonello G	22381110	2012
11	Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome. ²⁴	Cosar H...Ozer EA	21691203	2011
12	Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. ²⁴	Herholz J...Rutsch F	21326283	2011
13	Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. ²⁴	Di Leo R...Rodolico C	20975058	2010
14	Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. ²⁴	Hahn AF...Boman H	20400119	2010
15	Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. ²⁴	Herholz J...Rutsch F	20187881	2010
16	Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity. ²⁴	Jung C...Cormier-Daire V	20447141	2010
17	Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. ²⁴	Yamazaki M...Fukushima Y	20186812	2010
18	Crisponi syndrome: a new case with additional features and new mutation in CRLF1. ²⁴	Okur I...Hasanoglu A	19012339	2008
19	Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus. ²⁴	Thomas N...Crisponi L	18837055	2008
20	Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report. ²⁴	Gaspar IM...Hennekam RC	18546280	2008
21	Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. ²⁴	Dagoneau N...Cormier-Daire V	17436251	2007
22	Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. ²⁴	Crisponi L...Rutsch F	17436252	2007
23	Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity. ²⁴	Hahn AF...McLeod JG	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. ²⁴	Rousseau F...Boman H	16782820	2006
25	Target-dependent specification of the neurotransmitter phenotype: cholinergic differentiation of sympathetic neurons is mediated in vivo by gp 130 signaling. ²⁴	Stanke M...Rohrer H	16319110	2006
26	Principles of interleukin (IL)-6-type cytokine signalling and its regulation. ²⁴	Heinrich PC...Schaper F	12773095	2003
27	Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. ²⁴	Di Rocco M...Superti-Furga A	12687669	2003
28	Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. ²⁴	Knappskog PM...Boman H	12509788	2003
29	Induction of cholinergic function in cultured sympathetic neurons by periosteal cells: cellular mechanisms. ²⁴	Asmus SE...Landis SC	11412023	2001
30	Developmental changes in the transmitter properties of sympathetic neurons that innervate the periosteum. ²⁴	Asmus SE...Landis SC	10662839	2000
31	A sweat gland-derived differentiation activity acts through known cytokine signaling pathways. ²⁴	Habecker BA...Landis SC	9374533	1997
32	Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome? ²⁴	Crisponi G	8723066	1996
33	Cardiotrophin-1 is not the sweat gland-derived differentiation factor. ²⁴	Habecker BA...Landis SC	8742412	1995
34	Cold-induced profuse sweating on back and chest. A new genetic entity? ²⁴	Sohar E...Revach M	82089	1978
35	Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. ⁶¹	Buers I...Crisponi L	31497877	2020
36	Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. ⁶¹	Angius A...Crisponi L	30859550	2019
37	Cold-Induced Sweating Syndrome Including Crisponi Syndrome ⁶¹	Hahn AF...Boman H	21370513	2011

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Genes for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

Genes related to Cold-Induced Sweating Syndrome Including Crisponi Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CRLF1	Cytokine Receptor Like Factor 1	Protein Coding	407.76	Pathogenic ⁶ GeneCards inferred via : Publications (show sections)
2	CLCF1	Cardiotrophin Like Cytokine Factor 1	Protein Coding	7.76	GeneCards inferred via : Publications (show sections)

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Variations for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

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

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CRLF1	NM_004750.5(CRLF1):c.829del (p.Arg277fs)	deletion	Pathogenic	635333		19:18707728-18707728	19:18596918-18596918

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Expression for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

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

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Pathways for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of lipid metabolism Insulin signaling-generic cascades ²² Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²² Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² ErbB2/ErbB3 signaling events ¹ Glucose Homeostasis ¹ Insulin signaling pathway ³⁶ IRS activation ⁶⁵ Signal attenuation ⁶⁵ Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation Insulin regulation of translation ²²	11.73	CRLF1 CLCF1
2	Interleukin-6 family signaling ⁶⁵ Show member pathways IL-6-type cytokine receptor ligand interactions ⁶⁵ Interleukin-6 signaling ⁶⁵	10.39	CRLF1 CLCF1

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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

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Sources for Cold-Induced Sweating Syndrome Including Crisponi Syndrome

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⁷⁴ Wikipedia