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

MCID: CLD004 MIFTS: 18	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 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

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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
Crisponi/cold-Induced Sweating Syndrome 3

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

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	cold-induced sweating syndrome	29.7	CRLF1 CLCF1
2	crisponi/cold-induced sweating syndrome 1	29.3	CRLF1 CLCF1
3	crisponi/cold-induced sweating syndrome 3	13.1
4	epileptic encephalopathy, early infantile, 11	10.4
5	schaaf-yang syndrome	10.4
6	congenital contractures of the limbs and face, hypotonia, and developmental delay	10.4
7	early infantile epileptic encephalopathy	10.4
8	autosomal recessive disease	10.4
9	congenital contractures	10.4
10	hypotonia	10.4
11	crisponi/cold-induced sweating syndrome 2	10.4
12	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 36)

#	Title	Authors	PMID	Year
1	Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1. ⁴	Testani E...Valeriani M	26565815	2016
2	De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. ⁴	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. ⁴	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. ⁴	Chong JX...Bamshad MJ	25683120	2015
5	Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy. ⁴	Melone MA...Boman H	25540807	2014
6	Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. ⁴	Piras R...Rutsch F	24488861	2014
7	Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. ⁴	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. ⁴	Tuysuz B...Boman H	23026229	2013
9	Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome. ⁴	Hakan N...Ceylaner S	23181498	2012
10	Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome. ⁴	Dessi A...Ottonello G	22381110	2012
11	Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome. ⁴	Cosar H...Ozer EA	21691203	2011
12	Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. ⁴	Herholz J...Rutsch F	21326283	2011
13	Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. ⁴	Di Leo R...Rodolico C	20975058	2010
14	Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. ⁴	Hahn AF...Boman H	20400119	2010
15	Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. ⁴	Herholz J...Rutsch F	20187881	2010
16	Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity. ⁴	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. ⁴	Yamazaki M...Fukushima Y	20186812	2010
18	Crisponi syndrome: a new case with additional features and new mutation in CRLF1. ⁴	Okur I...Hasanoglu A	19012339	2008
19	Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus. ⁴	Thomas N...Crisponi L	18837055	2008
20	Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report. ⁴	Gaspar IM...Hennekam RC	18546280	2008
21	Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. ⁴	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. ⁴	Crisponi L...Rutsch F	17436252	2007
23	Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity. ⁴	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. ⁴	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. ⁴	Stanke M...Rohrer H	16319110	2006
26	Principles of interleukin (IL)-6-type cytokine signalling and its regulation. ⁴	Heinrich PC...Schaper F	12773095	2003
27	Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. ⁴	Di Rocco M...Superti-Furga A	12687669	2003
28	Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. ⁴	Knappskog PM...Boman H	12509788	2003
29	Induction of cholinergic function in cultured sympathetic neurons by periosteal cells: cellular mechanisms. ⁴	Asmus SE...Landis SC	11412023	2001
30	Developmental changes in the transmitter properties of sympathetic neurons that innervate the periosteum. ⁴	Asmus SE...Landis SC	10662839	2000
31	A sweat gland-derived differentiation activity acts through known cytokine signaling pathways. ⁴	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? ⁴	Crisponi G	8723066	1996
33	Cardiotrophin-1 is not the sweat gland-derived differentiation factor. ⁴	Habecker BA...Landis SC	8742412	1995
34	Cold-induced profuse sweating on back and chest. A new genetic entity? ⁴	Sohar E...Revach M	82089	1978
35	Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. ³⁸	Angius A...Crisponi L	30859550	2019
36	Cold-Induced Sweating Syndrome Including Crisponi Syndrome ³⁸	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	417.78	Pathogenic ⁶ GeneCards inferred via : Publications (show sections)
2	CLCF1	Cardiotrophin Like Cytokine Factor 1	Protein Coding	17.78	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	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

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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 ³⁷ IRS activation ⁶⁶ Signal attenuation ⁶⁶ 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 ⁶⁶ Show member pathways IL-6-type cytokine receptor ligand interactions ⁶⁶ Interleukin-6 signaling ⁶⁶	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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

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³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia