CISS
MCID: CLD003
MIFTS: 42

Cold-Induced Sweating Syndrome (CISS)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cold-Induced Sweating Syndrome

MalaCards integrated aliases for Cold-Induced Sweating Syndrome:

Name: Cold-Induced Sweating Syndrome 12 20 43 58 36 29 54 15
Crisponi Syndrome 12 20 43 44 70
Sohar-Crisponi Syndrome 12 20 43
Ciss 20 43 58
Cntf Receptor-Related Disorders 20 43
Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death 20
Sweating Syndrome, Cold-Induced 39

Characteristics:

Orphanet epidemiological data:

58
cold-induced sweating syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060294
KEGG 36 H00935
MeSH 44 C536214
SNOMED-CT 67 725097006
ICD10 via Orphanet 33 G90.8
Orphanet 58 ORPHA157820
UMLS 70 C1832409

Summaries for Cold-Induced Sweating Syndrome

MedlinePlus Genetics : 43 Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. In infancy, the features of this condition are often known as Crisponi syndrome. Researchers originally thought that cold-induced sweating syndrome and Crisponi syndrome were separate disorders, but it is now widely believed that they represent the same condition at different times during life.Infants with Crisponi syndrome have unusual facial features, including a flat nasal bridge, upturned nostrils, a long space between the nose and upper lip (philtrum), a high arched roof of the mouth (palate), a small chin (micrognathia), and low-set ears. The muscles in the lower part of the face are weak, leading to severe feeding difficulties, excessive drooling, and breathing problems. Other physical abnormalities associated with Crisponi syndrome include a scaly skin rash, an inability to fully extend the elbows, overlapping fingers and tightly fisted hands, and malformations of the feet and toes. Affected infants startle easily and often tense their facial muscles into a grimace-like expression. By six months of age, infants with Crisponi syndrome develop unexplained high fevers that increase the risk of seizures and sudden death.Many of the health problems associated with Crisponi syndrome improve with time, and affected individuals who survive the newborn period go on to develop other features of cold-induced sweating syndrome in early childhood. Within the first decade of life, affected individuals begin having episodes of profuse sweating (hyperhidrosis) and shivering involving the face, torso, and arms. The excessive sweating is usually triggered by exposure to temperatures below about 65 or 70 degrees Fahrenheit, but it can also be triggered by nervousness or eating sugary foods. Paradoxically, affected individuals tend not to sweat in warmer conditions, instead becoming flushed and overheated in hot environments.Adolescents with cold-induced sweating syndrome typically develop abnormal side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). Although infants may develop life-threatening fevers, affected individuals who survive infancy have a normal life expectancy.

MalaCards based summary : Cold-Induced Sweating Syndrome, also known as crisponi syndrome, is related to crisponi/cold-induced sweating syndrome 2 and crisponi/cold-induced sweating syndrome 1. An important gene associated with Cold-Induced Sweating Syndrome is CRLF1 (Cytokine Receptor Like Factor 1), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and JAK-STAT signaling pathway. The drugs Citalopram and Dexetimide have been mentioned in the context of this disorder. Affiliated tissues include brain, salivary gland and pituitary, and related phenotype is muscle.

Disease Ontology : 12 A syndrome that is characterized by profuse sweating induced by cold ambient temperature.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 157820 Definition Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature. Epidemiology So far, six cases have been reported of Norwegian, Israeli and Canadian origin. Clinical description Additional abnormalities may include kyphoscoliosis, a high-arched palate, a nasal voice, depressed nasal bridge, and impaired peripheral sensitivity to pain and temperature. Etiology CISS is caused by mutations in the CRLF1 gene on chromosome 19p12 (CISS type 1). In one Australian man with no family history, the syndrome was associated with mutations in the CLCF1 gene on chromosome 11q13.3 (CISS type 2). Genetic counseling CISS is an autosomal recessive disorder.

KEGG : 36 Cold-induced sweating syndrome (CISS) is inherited in an autosomal recessive manner. Mutations in CRLF1 account for about 90% and mutations in CLCF1 account for about 10% of CISS. CISS is characterized by profuse sweating induced by cool surroundings.

Wikipedia : 73 Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1... more...

Related Diseases for Cold-Induced Sweating Syndrome

Diseases in the Cold-Induced Sweating Syndrome family:

Cold-Induced Sweating Syndrome 3

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

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 crisponi/cold-induced sweating syndrome 2 32.8 LOC100130987 LIFR CRLF1 CNTFR CLCF1
2 crisponi/cold-induced sweating syndrome 1 32.5 ODAM LOC112543470 KLHL7 CRLF1 CNTFR CLCF1
3 cold-induced sweating syndrome including crisponi syndrome 32.4 LOC112543470 CRLF1 CLCF1
4 schaaf-yang syndrome 30.0 NALCN MAGEL2 KLHL7 CRLF1 CLCF1
5 developmental and epileptic encephalopathy 11 29.9 NALCN MAGEL2 KLHL7 CRLF1 CNTFR CLCF1
6 cold-induced sweating syndrome 3 11.8
7 perching syndrome 11.6
8 cold-induced sweating syndrome-hyperthermia spectrum 11.4
9 autosomal recessive disease 10.5
10 scoliosis 10.5
11 congenital contractures of the limbs and face, hypotonia, and developmental delay 10.2
12 early infantile epileptic encephalopathy 10.2
13 congenital contractures 10.2
14 cytokine deficiency 10.2
15 encephalopathy 10.2
16 hypotonia 10.2
17 trigeminal neuralgia 10.2
18 hypertonia 10.2
19 neurilemmoma 10.1
20 sensorineural hearing loss 10.1
21 hydrocephalus 10.1
22 acoustic neuroma 10.1
23 retinitis pigmentosa 10.1
24 stuve-wiedemann syndrome 10.1
25 neuroretinitis 10.1
26 tetanus 10.1
27 tetanus neonatorum 10.1
28 retinitis 10.1
29 erythrokeratoderma ''en cocardes'' 10.1
30 syncope 10.1
31 hemifacial spasm, familial 10.0
32 hemifacial spasm 10.0
33 siderosis 9.9
34 facial paralysis 9.9
35 obstructive hydrocephalus 9.9
36 labyrinthitis 9.9
37 chromosomal triplication 9.9
38 encephalocele 9.9
39 head injury 9.9
40 superficial siderosis 9.9
41 malignant hyperthermia 9.9
42 retinitis pigmentosa 42 9.9 KLHL7 KLHL31
43 burkitt lymphoma 9.8
44 deafness, unilateral 9.8
45 epicanthus 9.8
46 epidermoid cysts 9.8
47 lipomatosis, multiple 9.8
48 raynaud disease 9.8
49 retinoblastoma 9.8
50 strabismus 9.8

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



Diseases related to Cold-Induced Sweating Syndrome

Symptoms & Phenotypes for Cold-Induced Sweating Syndrome

MGI Mouse Phenotypes related to Cold-Induced Sweating Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 CNTF GAN KLHL31 KLHL40 LZTR1 MAGEL2

Drugs & Therapeutics for Cold-Induced Sweating Syndrome

Drugs for Cold-Induced Sweating Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 2 59729-33-8 2771
2
Dexetimide Withdrawn Phase 2 21888-98-2
3 Psychotropic Drugs Phase 2
4 Serotonin Uptake Inhibitors Phase 2
5 Neurotransmitter Agents Phase 2
6 Antidepressive Agents Phase 2
7 Serotonin Receptor Agonists Phase 2
8
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 CISS: Cortical Ischemic Stroke and Serotonin - Effects of Serotonergic Neuromodulation on Behavioural Recovery and Motor Network Plasticity After Cortical Ischemic Stroke: a Longitudinal, Placebo-controlled Study Recruiting NCT02865642 Phase 2 Serotonin Uptake Inhibitors;Placebo
2 Novel MRI for Diagnosing Traumatic Brachial Plexus Injuries Recruiting NCT04058821
3 Cross-cultural Adaptation and Validation of the "Cold Intolerance Symptom Severity Questionnaire" (CISS) and the "Potential Work Exposure Scale" (PWES) in Patients With Hand Pathologies. Recruiting NCT04646343

Search NIH Clinical Center for Cold-Induced Sweating Syndrome

Cochrane evidence based reviews: crisponi syndrome

Genetic Tests for Cold-Induced Sweating Syndrome

Genetic tests related to Cold-Induced Sweating Syndrome:

# Genetic test Affiliating Genes
1 Cold-Induced Sweating Syndrome 29

Anatomical Context for Cold-Induced Sweating Syndrome

MalaCards organs/tissues related to Cold-Induced Sweating Syndrome:

40
Brain, Salivary Gland, Pituitary

Publications for Cold-Induced Sweating Syndrome

Articles related to Cold-Induced Sweating Syndrome:

(show all 48)
# Title Authors PMID Year
1
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. 54 61 6
17436252 2007
2
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. 61 54 6
17436251 2007
3
Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. 61 6 54
16782820 2006
4
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. 6 61 54
12509788 2003
5
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. 6 61
30300710 2019
6
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome. 61 6
30142437 2019
7
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. 6 61
29074562 2017
8
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 61 6
27392078 2016
9
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. 6 61
20400119 2010
10
Crisponi syndrome: a new case with additional features and new mutation in CRLF1. 61 6
19012339 2008
11
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. 6
26752647 2016
12
Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome? 6
8723066 1996
13
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. 54 61
20186812 2010
14
Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family. 61
33231180 2020
15
Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual. 61
32492556 2020
16
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion. 61
32433043 2020
17
Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line. 61
32512309 2020
18
[General anesthesia for Crisponi syndrome: case report]. 61
32493688 2020
19
A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features. 61
31953236 2020
20
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. 61
31497877 2020
21
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. 61
31856884 2019
22
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. 61
30859550 2019
23
New macular findings in individuals with biallelic KLHL7 gene mutation. 61
30997404 2019
24
Autonomic Reflex Screen Test Abnormalities in Cold-Induced Sweating Syndrome Type 1. 61
29189552 2017
25
Mutations in CRLF1 cause familial achalasia. 61
27976805 2017
26
A new case series of Crisponi syndrome in a Turkish family and review of the literature. 61
27977424 2017
27
Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1. 61
26565815 2016
28
PERIOPERATIVE CARE OF A CHILD WITH CRISPONI SYNDROME. 61
27487643 2016
29
Cytokine-Like Factor 1, an Essential Facilitator of Cardiotrophin-Like Cytokine:Ciliary Neurotrophic Factor Receptor α Signaling and sorLA-Mediated Turnover. 61
26858303 2016
30
Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy. 61
25540807 2014
31
A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation. 61
24613578 2014
32
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. 61
24488861 2014
33
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. 61
23026229 2013
34
Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome. 61
24032286 2013
35
Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome. 61
24008591 2013
36
Cold induced sweating syndrome with urinary system anomaly association. 61
24073352 2013
37
Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome. 61
23181498 2012
38
Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome. 61
22381110 2012
39
Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome. 61
21691203 2011
40
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. 61
21326283 2011
41
Cold-Induced Sweating Syndrome Including Crisponi Syndrome 61
21370513 2011
42
Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. 61
20975058 2010
43
Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. 61
20187881 2010
44
Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus. 61
18837055 2008
45
Central apneas in a case of Crisponi syndrome. 61
17921063 2008
46
Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity. 61
16952376 2006
47
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome. 61
15637710 2005
48
Crisponi syndrome: report of a further patient. 61
14598344 2003

Variations for Cold-Induced Sweating Syndrome

ClinVar genetic disease variations for Cold-Induced Sweating Syndrome:

6 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCF1 , LOC100130987 NM_013246.3(CLCF1):c.321C>A (p.Tyr107Ter) SNV Pathogenic 2930 rs104894198 GRCh37: 11:67132964-67132964
GRCh38: 11:67365493-67365493
2 CLCF1 , LOC100130987 NM_013246.3(CLCF1):c.590G>T (p.Arg197Leu) SNV Pathogenic 2931 rs104894203 GRCh37: 11:67132695-67132695
GRCh38: 11:67365224-67365224
3 CRLF1 NM_004750.5(CRLF1):c.242G>A (p.Arg81His) SNV Pathogenic 5706 rs104894670 GRCh37: 19:18710530-18710530
GRCh38: 19:18599720-18599720
4 CRLF1 NM_004750.5(CRLF1):c.676dup (p.Thr226fs) Duplication Pathogenic 5707 rs761746361 GRCh37: 19:18709262-18709263
GRCh38: 19:18598452-18598453
5 CRLF1 NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly) SNV Pathogenic 5708 rs137853143 GRCh37: 19:18710546-18710546
GRCh38: 19:18599736-18599736
6 CRLF1 NM_004750.5(CRLF1):c.527+5G>A SNV Pathogenic 5709 rs748847434 GRCh37: 19:18709577-18709577
GRCh38: 19:18598767-18598767
7 CRLF1 NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter) SNV Pathogenic 5711 rs137853144 GRCh37: 19:18705167-18705167
GRCh38: 19:18594357-18594357
8 CRLF1 CRLF1, 2-BP DEL/1-BP INS, NT708 Indel Pathogenic 5712 GRCh37:
GRCh38:
9 LOC112543470 , CRLF1 NM_004750.5(CRLF1):c.829C>T (p.Arg277Ter) SNV Pathogenic 5713 rs137853145 GRCh37: 19:18707728-18707728
GRCh38: 19:18596918-18596918
10 LOC112543470 , CRLF1 NM_004750.5(CRLF1):c.857_864del (p.Val286fs) Deletion Pathogenic 21008 rs367543004 GRCh37: 19:18707592-18707599
GRCh38: 19:18596782-18596789
11 CRLF1 NM_004750.5(CRLF1):c.1121T>G (p.Leu374Arg) SNV Pathogenic 21428 rs104894668 GRCh37: 19:18705148-18705148
GRCh38: 19:18594338-18594338
12 CRLF1 NM_004750.5(CRLF1):c.303del (p.Asn102fs) Deletion Pathogenic 21430 rs137853931 GRCh37: 19:18710469-18710469
GRCh38: 19:18599659-18599659
13 CRLF1 NM_004750.5(CRLF1):c.31_53del (p.Gln11fs) Deletion Pathogenic 21431 rs137853929 GRCh37: 19:18717414-18717436
GRCh38: 19:18606604-18606626
14 CRLF1 NM_004750.5(CRLF1):c.397+1G>A SNV Pathogenic 21432 rs137853932 GRCh37: 19:18710374-18710374
GRCh38: 19:18599564-18599564
15 CRLF1 NM_004750.5(CRLF1):c.413C>T (p.Pro138Leu) SNV Pathogenic 21433 rs137853930 GRCh37: 19:18709696-18709696
GRCh38: 19:18598886-18598886
16 CRLF1 NM_004750.5(CRLF1):c.538C>T (p.Gln180Ter) SNV Pathogenic 21434 rs137853926 GRCh37: 19:18709401-18709401
GRCh38: 19:18598591-18598591
17 LOC112543470 , CRLF1 NM_004750.5(CRLF1):c.852G>T (p.Trp284Cys) SNV Pathogenic 21436 rs137853927 GRCh37: 19:18707705-18707705
GRCh38: 19:18596895-18596895
18 CRLF1 NM_004750.5(CRLF1):c.935G>A (p.Arg312His) SNV Pathogenic 21437 rs137853933 GRCh37: 19:18707521-18707521
GRCh38: 19:18596711-18596711
19 CLCF1 , LOC100130987 NM_013246.3(CLCF1):c.46T>C (p.Cys16Arg) SNV Pathogenic 21503 rs137853934 GRCh37: 11:67135068-67135068
GRCh38: 11:67367597-67367597
20 CLCF1 , LOC100130987 NM_013246.3(CLCF1):c.676T>C (p.Ter226Arg) SNV Pathogenic 21504 rs137853935 GRCh37: 11:67132609-67132609
GRCh38: 11:67365138-67365138
21 CLCF1 CLCF1, 676T-C SNV Pathogenic 39568 GRCh37:
GRCh38:
22 CRLF1 NM_004750.5(CRLF1):c.713dup (p.Pro239fs) Duplication Pathogenic 216913 rs768727082 GRCh37: 19:18707843-18707844
GRCh38: 19:18597033-18597034
23 KLHL7 NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) Deletion Pathogenic 226129 rs879255557 GRCh37: 7:23205399-23205399
GRCh38: 7:23165780-23165780
24 KLHL7 NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) SNV Pathogenic 226127 rs879255556 GRCh37: 7:23207538-23207538
GRCh38: 7:23167919-23167919
25 KLHL7 NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln) SNV Pathogenic 226130 rs879255558 GRCh37: 7:23205495-23205495
GRCh38: 7:23165876-23165876
26 KLHL7 NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln) SNV Pathogenic 226130 rs879255558 GRCh37: 7:23205495-23205495
GRCh38: 7:23165876-23165876
27 KLHL7 NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) SNV Pathogenic 226128 rs780705654 GRCh37: 7:23207535-23207535
GRCh38: 7:23167916-23167916
28 KLHL7 NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) Deletion Pathogenic 226129 rs879255557 GRCh37: 7:23205399-23205399
GRCh38: 7:23165780-23165780
29 KLHL7 NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) SNV Pathogenic 226127 rs879255556 GRCh37: 7:23207538-23207538
GRCh38: 7:23167919-23167919
30 KLHL7 NM_001031710.3(KLHL7):c.618+1G>A SNV Pathogenic 487514 rs1554289078 GRCh37: 7:23180564-23180564
GRCh38: 7:23140945-23140945
31 KLHL7 NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter) SNV Pathogenic 804273 rs746612410 GRCh37: 7:23205431-23205431
GRCh38: 7:23165812-23165812
32 KLHL7 NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter) SNV Pathogenic 816804 rs943339467 GRCh37: 7:23180510-23180510
GRCh38: 7:23140891-23140891
33 CRLF1 NM_004750.5(CRLF1):c.985dup (p.Glu329fs) Duplication Pathogenic 816854 rs1600650861 GRCh37: 19:18707470-18707471
GRCh38: 19:18596660-18596661
34 CRLF1 NM_004750.5(CRLF1):c.531G>A (p.Trp177Ter) SNV Pathogenic 929438 GRCh37: 19:18709408-18709408
GRCh38: 19:18598598-18598598
35 CRLF1 NM_004750.5(CRLF1):c.983dup (p.Ser328fs) Duplication Pathogenic 418665 rs1555758035 GRCh37: 19:18707472-18707473
GRCh38: 19:18596662-18596663
36 CLCF1 , LOC100130987 NM_013246.3(CLCF1):c.549del (p.Asp183fs) Deletion Pathogenic 1027793 GRCh37: 11:67132736-67132736
GRCh38: 11:67365265-67365265
37 KLHL7 NM_001031710.3(KLHL7):c.807C>A (p.Tyr269Ter) SNV Pathogenic 1030980 GRCh37: 7:23191699-23191699
GRCh38: 7:23152080-23152080
38 CRLF1 NM_004750.5(CRLF1):c.460del (p.Arg154fs) Deletion Pathogenic 1032933 GRCh37: 19:18709649-18709649
GRCh38: 19:18598839-18598839
39 LOC112543470 , CRLF1 NM_004750.5(CRLF1):c.843_844TG[1] (p.Val282fs) Microsatellite Pathogenic 224612 rs137853928 GRCh37: 19:18707711-18707712
GRCh38: 19:18596901-18596902
40 KLHL7 NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) SNV Pathogenic 279824 rs77078070 GRCh37: 7:23205356-23205356
GRCh38: 7:23165737-23165737
41 KLHL7 NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) SNV Pathogenic/Likely pathogenic 226128 rs780705654 GRCh37: 7:23207535-23207535
GRCh38: 7:23167916-23167916
42 CRLF1 NM_004750.5(CRLF1):c.935G>T (p.Arg312Leu) SNV Likely pathogenic 929437 rs137853933 GRCh37: 19:18707521-18707521
GRCh38: 19:18596711-18596711
43 KLHL7 NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) SNV Likely pathogenic 279824 rs77078070 GRCh37: 7:23205356-23205356
GRCh38: 7:23165737-23165737
44 KLHL7 NM_001031710.3(KLHL7):c.178_180GTT[1] (p.Val61del) Microsatellite Conflicting interpretations of pathogenicity 430626 rs1554286093 GRCh37: 7:23163452-23163454
GRCh38: 7:23123833-23123835
45 CLCF1 , LOC100130987 NM_013246.3(CLCF1):c.163C>T (p.Arg55Cys) SNV Uncertain significance 548547 rs560558450 GRCh37: 11:67134951-67134951
GRCh38: 11:67367480-67367480
46 KLHL7 NM_001031710.3(KLHL7):c.121-5814A>G SNV Benign 802301 rs17147682 GRCh37: 7:23157582-23157582
GRCh38: 7:23117963-23117963
47 KLHL7 NM_001031710.3(KLHL7):c.352C>T (p.Leu118=) SNV Benign 359798 rs15775 GRCh37: 7:23164701-23164701
GRCh38: 7:23125082-23125082
48 KLHL7 NM_001031710.3(KLHL7):c.936+3731_936+3735del Deletion Benign 802302 rs141774430 GRCh37: 7:23195556-23195560
GRCh38: 7:23155937-23155941
49 CRLF1 NM_004750.5(CRLF1):c.66_68GCT[3] (p.Leu26del) Microsatellite Benign 224611 rs34503316 GRCh37: 19:18717390-18717392
GRCh38: 19:18606580-18606582
50 CRLF1 NM_004750.5(CRLF1):c.242G>A (p.Arg81His) SNV Benign 39410 rs104894670 GRCh37: 19:18710530-18710530
GRCh38: 19:18599720-18599720

Expression for Cold-Induced Sweating Syndrome

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

Pathways for Cold-Induced Sweating Syndrome

Pathways related to Cold-Induced Sweating Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060
2 JAK-STAT signaling pathway hsa04630

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.09 LIFR CRLF1 CNTFR CNTF CLCF1
2
Show member pathways
11.54 LIFR CNTFR CNTF
3
Show member pathways
10.78 LIFR CRLF1 CNTFR CNTF CLCF1

GO Terms for Cold-Induced Sweating Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 CNTFR-CLCF1 complex GO:0097059 9.16 CNTFR CLCF1
2 Cul3-RING ubiquitin ligase complex GO:0031463 9.1 LZTR1 KLHL7 KLHL40 KLHL3 KLHL24 GAN
3 CRLF-CLCF1 complex GO:0097058 8.96 CRLF1 CLCF1

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

# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.77 LZTR1 KLHL7 KLHL3 KLHL24 GAN
2 positive regulation of cell proliferation GO:0008284 9.72 LIFR CRLF1 CNTFR CNTF CLCF1
3 negative regulation of neuron apoptotic process GO:0043524 9.46 CRLF1 CNTFR CNTF CLCF1
4 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.43 CRLF1 CNTF CLCF1
5 cytokine-mediated signaling pathway GO:0019221 9.35 LIFR CRLF1 CNTFR CNTF CLCF1
6 ciliary neurotrophic factor-mediated signaling pathway GO:0070120 8.8 LIFR CNTFR CNTF

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

# Name GO ID Score Top Affiliating Genes
1 cytokine receptor activity GO:0004896 9.43 LIFR CRLF1 CNTFR
2 cytokine binding GO:0019955 9.33 LIFR CRLF1 CNTFR
3 ciliary neurotrophic factor receptor activity GO:0004897 8.96 LIFR CNTFR
4 ciliary neurotrophic factor receptor binding GO:0005127 8.92 LIFR CRLF1 CNTF CLCF1

Sources for Cold-Induced Sweating Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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