CISS1
MCID: CRS016
MIFTS: 43

Crisponi/cold-Induced Sweating Syndrome 1 (CISS1)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Crisponi/cold-Induced Sweating Syndrome 1

MalaCards integrated aliases for Crisponi/cold-Induced Sweating Syndrome 1:

Name: Crisponi/cold-Induced Sweating Syndrome 1 57 73
Crisponi Syndrome 57 58 75 73 53 38 71
Cold-Induced Sweating Syndrome 1 57 11 28 5 14 71
Sohar-Crisponi Syndrome 57 73
Ciss1 57 73
Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death 57
Muscle Contractions Tetanoform with Characteristic Face Camptodactyly Hyperthermia and Sudden Death 73

Characteristics:


Inheritance:

Crisponi/cold-Induced Sweating Syndrome 1: Autosomal recessive 57
Crisponi Syndrome: Autosomal recessive 58

Prevelance:

Crisponi Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Crisponi Syndrome: Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in early infancy
high early mortality rate if untreated
muscle contractions in infancy occur in response to tactile stimulation or crying
fever, muscle cramping, and poor feeding remit by age 2 years
cold-induced sweating develops late in the first decade
clonidine can alleviate hyperhidrosis


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Crisponi/cold-Induced Sweating Syndrome 1

OMIM®: 57 Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Buers et al. (2020) provided a detailed review of Crisponi/CISS, including clinical features, diagnosis, and evolution of the disease, differential diagnosis, pathogenesis, and recommended management and treatment. (272430) (Updated 08-Dec-2022)

MalaCards based summary: Crisponi/cold-Induced Sweating Syndrome 1, also known as crisponi syndrome, is related to crisponi/cold-induced sweating syndrome 2 and cold-induced sweating syndrome including crisponi syndrome, and has symptoms including dyspnea, opisthotonus and facial paresis. An important gene associated with Crisponi/cold-Induced Sweating Syndrome 1 is CRLF1 (Cytokine Receptor Like Factor 1), and among its related pathways/superpathways are Translation Insulin regulation of translation and Interleukin-6 family signaling. Affiliated tissues include brain, and related phenotypes are scoliosis and large face

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis.

Disease Ontology: 11 A cold-induced sweating syndrome that has material basis in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention.

Orphanet: 58 Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Wikipedia: 75 Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1... more...

Related Diseases for Crisponi/cold-Induced Sweating Syndrome 1

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 Crisponi/cold-Induced Sweating Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 crisponi/cold-induced sweating syndrome 2 31.2 CRLF1 CNTFR CLCF1
2 cold-induced sweating syndrome including crisponi syndrome 30.2 LOC112543470 CRLF1
3 cold-induced sweating syndrome 3 29.6 KLHL7 KLHL31
4 cold-induced sweating syndrome 28.5 ODAM KLHL7 KLHL31 KLHL2 CRLF1 CNTFR
5 klhl7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome 11.0
6 klhl7-related cold-induced sweating-like syndrome 11.0
7 scoliosis 10.2
8 tetanus 10.2
9 hypertonia 10.2
10 stuve-wiedemann syndrome 1 10.1
11 tetanus neonatorum 10.1
12 retinitis pigmentosa 10.0
13 perching syndrome 10.0
14 retinitis 10.0
15 dental caries 9.9
16 skin disease 9.9
17 malignant hyperthermia 9.9
18 erythrokeratoderma ''en cocardes'' 9.9
19 keratitis, hereditary 9.9
20 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.9
21 corpus callosum, agenesis of 9.9
22 bohring-opitz syndrome 9.9
23 periventricular nodular heterotopia 9.9
24 common cold 9.9
25 microcephaly 9.9
26 anhidrosis 9.9
27 spasticity 9.9
28 congenital contractures of the limbs and face, hypotonia, and developmental delay 9.8 KLHL7 CRLF1 CLCF1
29 developmental and epileptic encephalopathy 11 9.7 KLHL7 CRLF1 CNTFR CLCF1
30 retinitis pigmentosa 42 9.5 KLHL7 KLHL31 KLHL2 CRLF1

Graphical network of the top 20 diseases related to Crisponi/cold-Induced Sweating Syndrome 1:



Diseases related to Crisponi/cold-Induced Sweating Syndrome 1

Symptoms & Phenotypes for Crisponi/cold-Induced Sweating Syndrome 1

Human phenotypes related to Crisponi/cold-Induced Sweating Syndrome 1:

58 30 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002650
2 large face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100729
3 hyperhidrosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000975
4 kyphosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002808
5 sudden cardiac death 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001645
6 respiratory insufficiency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002093
7 anteverted nares 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000463
8 hypertonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001276
9 full cheeks 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000293
10 hypohidrosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000966
11 malignant hyperthermia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002047
12 long philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000343
13 camptodactyly of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100490
14 wide nose 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000445
15 feeding difficulties 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011968
16 high palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000218
17 cognitive impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0100543
18 limitation of joint mobility 58 30 Frequent (33%) Frequent (79-30%)
HP:0001376
19 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
20 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
21 narrow mouth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000160
22 intellectual disability 30 Occasional (7.5%) HP:0001249
23 facial palsy 30 HP:0010628
24 short neck 30 HP:0000470
25 depressed nasal bridge 30 HP:0005280
26 carious teeth 30 HP:0000670
27 pes planus 30 HP:0001763
28 flexion contracture 58 Very frequent (99-80%)
29 feeding difficulties in infancy 30 HP:0008872
30 retrognathia 30 HP:0000278
31 low-set ears 30 HP:0000369
32 elbow flexion contracture 30 HP:0002987
33 talipes equinovarus 30 HP:0001762
34 kyphoscoliosis 30 HP:0002751
35 dyspnea 30 HP:0002094
36 death in infancy 58 Very frequent (99-80%)
37 nasal speech 30 HP:0001611
38 adducted thumb 30 HP:0001181
39 keratitis 30 HP:0000491
40 trismus 30 HP:0000211
41 tapered finger 30 HP:0001182
42 short palm 30 HP:0004279
43 radial deviation of finger 30 HP:0009466
44 recurrent fever 30 HP:0001954
45 camptodactyly 30 HP:0012385
46 limited elbow extension 30 HP:0001377
47 opisthotonus 30 HP:0002179

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
kyphosis

Head And Neck Neck:
short neck
neck muscle hypertonia

Head And Neck Ears:
low-set ears

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Central Nervous System:
opisthotonus
seizures (less common)
mental retardation (rare)
subcortical white matter abnormalities seen on mri

Skeletal Feet:
club feet

Metabolic Features:
hyperthermia, episodic
variable fever

Neurologic Peripheral Nervous System:
decreased pain sensitivity

Head And Neck Eyes:
chronic keratitis
inability to fully close eyes during sleep

Muscle Soft Tissue:
generalized muscle contractions, episodic
tetanus-like muscle contractions

Head And Neck Face:
large face
retrognathia
micrognathia
facial weakness
severe contractions of the facial muscles
more
Head And Neck Nose:
depressed nasal bridge
long philtrum
anteverted nostrils
broad nose

Respiratory:
dyspnea
apneic spells

Skeletal Hands:
camptodactyly
adducted thumbs
tapered fingers
ulnar deviation of the fingers

Head And Neck Mouth:
high-arched palate
small mouth
dental caries, severe
abundant salivation

Voice:
nasal voice

Skeletal Limbs:
elbow contractures

Growth Other:
poor growth in infancy

Skin Nails Hair Skin:
profuse sweating of the upper body induced by cold exposure
poor sweating in response to heat

Clinical features from OMIM®:

272430 (Updated 08-Dec-2022)

UMLS symptoms related to Crisponi/cold-Induced Sweating Syndrome 1:


dyspnea; opisthotonus; facial paresis

Drugs & Therapeutics for Crisponi/cold-Induced Sweating Syndrome 1

Search Clinical Trials, NIH Clinical Center for Crisponi/cold-Induced Sweating Syndrome 1

Genetic Tests for Crisponi/cold-Induced Sweating Syndrome 1

Genetic tests related to Crisponi/cold-Induced Sweating Syndrome 1:

# Genetic test Affiliating Genes
1 Cold-Induced Sweating Syndrome 1 28 CRLF1

Anatomical Context for Crisponi/cold-Induced Sweating Syndrome 1

Organs/tissues related to Crisponi/cold-Induced Sweating Syndrome 1:

MalaCards : Brain
ODiseA: Brain

Publications for Crisponi/cold-Induced Sweating Syndrome 1

Articles related to Crisponi/cold-Induced Sweating Syndrome 1:

(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. 53 62 57 5
17436252 2007
2
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. 53 62 57 5
17436251 2007
3
Crisponi syndrome: a new case with additional features and new mutation in CRLF1. 62 57 5
19012339 2008
4
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. 57 5
12509788 2003
5
Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome? 57 5
8723066 1996
6
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. 53 62 57
20186812 2010
7
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. 62 5
24488861 2014
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. 62 57
23026229 2013
9
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. 62 57
21326283 2011
10
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. 62 57
20400119 2010
11
Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus. 62 57
18837055 2008
12
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome. 62 57
15637710 2005
13
Crisponi syndrome: report of a further patient. 62 57
14598344 2003
14
Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey. 5
35699517 2022
15
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. 57
31497877 2020
16
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. 5
26752647 2016
17
Target-dependent specification of the neurotransmitter phenotype: cholinergic differentiation of sympathetic neurons is mediated in vivo by gp 130 signaling. 57
16319110 2006
18
Cold-induced profuse sweating on back and chest. A new genetic entity? 57
82089 1978
19
Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome. 62
35984556 2022
20
Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families. 62
33910095 2021
21
Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual. 62
32492556 2020
22
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion. 62
32433043 2020
23
Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line. 62
32512309 2020
24
[General anesthesia for Crisponi syndrome: case report]. 62
32493688 2020
25
A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features. 62
31953236 2020
26
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. 62
30300710 2019
27
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome. 62
30142437 2019
28
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. 62
30859550 2019
29
New macular findings in individuals with biallelic KLHL7 gene mutation. 62
30997404 2019
30
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 62
29625027 2018
31
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. 62
29074562 2017
32
Mutations in CRLF1 cause familial achalasia. 62
27976805 2017
33
A new case series of Crisponi syndrome in a Turkish family and review of the literature. 62
27977424 2017
34
Corneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report. 62
27054527 2017
35
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 62
27392078 2016
36
Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1. 62
26565815 2016
37
PERIOPERATIVE CARE OF A CHILD WITH CRISPONI SYNDROME. 62
27487643 2016
38
Crisponi/CISS1 syndrome: A case series. 62
26804344 2016
39
A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation. 62
24613578 2014
40
Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome. 62
24008591 2013
41
Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome. 62
24032286 2013
42
Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome. 62
23181498 2012
43
Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome. 62
22381110 2012
44
Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome. 62
21691203 2011
45
Cold-Induced Sweating Syndrome Including Crisponi Syndrome 62
21370513 2011
46
Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. 62
20187881 2010
47
Central apneas in a case of Crisponi syndrome. 62
17921063 2008
48
Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity. 62
16952376 2006

Variations for Crisponi/cold-Induced Sweating Syndrome 1

ClinVar genetic disease variations for Crisponi/cold-Induced Sweating Syndrome 1:

5 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRLF1 NM_004750.5(CRLF1):c.527+5G>A SNV Pathogenic
5709 rs748847434 GRCh37: 19:18709577-18709577
GRCh38: 19:18598767-18598767
2 CRLF1 NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter) SNV Pathogenic
5711 rs137853144 GRCh37: 19:18705167-18705167
GRCh38: 19:18594357-18594357
3 LOC112543470, CRLF1 NM_004750.5(CRLF1):c.829C>T (p.Arg277Ter) SNV Pathogenic
5713 rs137853145 GRCh37: 19:18707728-18707728
GRCh38: 19:18596918-18596918
4 LOC112543470, CRLF1 NM_004750.5(CRLF1):c.857_864del (p.Val286fs) DEL Pathogenic
21008 rs367543004 GRCh37: 19:18707592-18707599
GRCh38: 19:18596782-18596789
5 LOC112543470, CRLF1 NM_004750.5(CRLF1):c.845_846del (p.Val282fs) MICROSAT Pathogenic
224612 rs137853928 GRCh37: 19:18707711-18707712
GRCh38: 19:18596901-18596902
6 CRLF1 NM_004750.5(CRLF1):c.985dup (p.Glu329fs) DUP Pathogenic
816854 rs1600650861 GRCh37: 19:18707470-18707471
GRCh38: 19:18596660-18596661
7 CRLF1 NM_004750.5(CRLF1):c.531G>A (p.Trp177Ter) SNV Pathogenic
929438 rs1976175724 GRCh37: 19:18709408-18709408
GRCh38: 19:18598598-18598598
8 CRLF1 NM_004750.5(CRLF1):c.983dup (p.Ser328fs) DUP Pathogenic
418665 rs1555758035 GRCh37: 19:18707472-18707473
GRCh38: 19:18596662-18596663
9 CRLF1 NM_004750.5(CRLF1):c.31_53del (p.Gln11fs) DEL Pathogenic
1322162 rs137853929 GRCh37: 19:18717414-18717436
GRCh38: 19:18606604-18606626
10 LOC112543470, CRLF1 NM_004750.5(CRLF1):c.776C>A (p.Ser259Ter) SNV Pathogenic
1526164 GRCh37: 19:18707781-18707781
GRCh38: 19:18596971-18596971
11 KLHL7 NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln) SNV Pathogenic
226130 rs879255558 GRCh37: 7:23205495-23205495
GRCh38: 7:23165876-23165876
12 KLHL7 NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) SNV Pathogenic
226128 rs780705654 GRCh37: 7:23207535-23207535
GRCh38: 7:23167916-23167916
13 KLHL7 NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) DEL Pathogenic
226129 rs879255557 GRCh37: 7:23205399-23205399
GRCh38: 7:23165780-23165780
14 KLHL7 NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) SNV Pathogenic
226127 rs879255556 GRCh37: 7:23207538-23207538
GRCh38: 7:23167919-23167919
15 LOC112543470, CRLF1 NM_004750.5(CRLF1):c.771G>A (p.Trp257Ter) SNV Pathogenic
1694460 GRCh37: 19:18707786-18707786
GRCh38: 19:18596976-18596976
16 CRLF1 NM_004750.5(CRLF1):c.708_709delinsT (p.Pro238fs) INDEL Pathogenic
5712 GRCh37: 19:18707848-18707849
GRCh38: 19:18597038-18597039
17 CRLF1 NM_004750.5(CRLF1):c.713dup (p.Pro239fs) DUP Pathogenic
216913 rs768727082 GRCh37: 19:18707843-18707844
GRCh38: 19:18597033-18597034
18 CRLF1 NM_004750.5(CRLF1):c.242G>A (p.Arg81His) SNV Pathogenic
5706 rs104894670 GRCh37: 19:18710530-18710530
GRCh38: 19:18599720-18599720
19 CRLF1 NM_004750.5(CRLF1):c.676dup (p.Thr226fs) DUP Pathogenic
5707 rs761746361 GRCh37: 19:18709262-18709263
GRCh38: 19:18598452-18598453
20 CRLF1 NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly) SNV Pathogenic
5708 rs137853143 GRCh37: 19:18710546-18710546
GRCh38: 19:18599736-18599736
21 CRLF1 NM_004750.5(CRLF1):c.713del (p.Pro238fs) DEL Pathogenic
1676590 GRCh37:
GRCh38:
22 CRLF1 NM_004750.5(CRLF1):c.167T>C (p.Leu56Pro) SNV Likely Pathogenic
1676201 GRCh37: 19:18710605-18710605
GRCh38: 19:18599795-18599795
23 CRLF1 NM_004750.5(CRLF1):c.397+1G>A SNV Likely Pathogenic
1324172 rs137853932 GRCh37: 19:18710374-18710374
GRCh38: 19:18599564-18599564
24 CRLF1 NM_004750.5(CRLF1):c.935G>T (p.Arg312Leu) SNV Likely Pathogenic
929437 rs137853933 GRCh37: 19:18707521-18707521
GRCh38: 19:18596711-18596711
25 CRLF1 NM_004750.5(CRLF1):c.1121T>G (p.Leu374Arg) SNV Not Provided
21428 rs104894668 GRCh37: 19:18705148-18705148
GRCh38: 19:18594338-18594338
26 CRLF1 NM_004750.5(CRLF1):c.242G>A (p.Arg81His) SNV Not Provided
39410 rs104894670 GRCh37: 19:18710530-18710530
GRCh38: 19:18599720-18599720

UniProtKB/Swiss-Prot genetic disease variations for Crisponi/cold-Induced Sweating Syndrome 1:

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 CRLF1 p.Arg81His VAR_017865 rs104894670
2 CRLF1 p.Leu374Arg VAR_017866 rs104894668
3 CRLF1 p.Trp76Gly VAR_033113 rs137853143
4 CRLF1 p.Leu74Pro VAR_070817 rs1295488778
5 CRLF1 p.Tyr75Asp VAR_070818
6 CRLF1 p.Asn113Ile VAR_070819
7 CRLF1 p.Leu114Pro VAR_070820 rs774359694
8 CRLF1 p.Pro138Leu VAR_070821 rs137853930
9 CRLF1 p.Ser145Pro VAR_070822
10 CRLF1 p.Arg216Cys VAR_070823 rs556029569
11 CRLF1 p.Phe268Ser VAR_070824 rs761982168
12 CRLF1 p.Trp284Cys VAR_070825 rs137853927
13 CRLF1 p.Arg312Pro VAR_070826 rs137853933
14 CRLF1 p.Arg340Cys VAR_070827 rs771459625

Expression for Crisponi/cold-Induced Sweating Syndrome 1

Search GEO for disease gene expression data for Crisponi/cold-Induced Sweating Syndrome 1.

Pathways for Crisponi/cold-Induced Sweating Syndrome 1

Pathways related to Crisponi/cold-Induced Sweating Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.78 CRLF1 CNTFR CLCF1
2
Show member pathways
10.65 CRLF1 CNTFR CLCF1

GO Terms for Crisponi/cold-Induced Sweating Syndrome 1

Cellular components related to Crisponi/cold-Induced Sweating Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Cul3-RING ubiquitin ligase complex GO:0031463 9.46 KLHL7 KLHL2
2 CNTFR-CLCF1 complex GO:0097059 9.26 CNTFR CLCF1
3 CRLF-CLCF1 complex GO:0097058 8.92 CRLF1 CLCF1

Biological processes related to Crisponi/cold-Induced Sweating Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.63 CRLF1 CNTFR CLCF1
2 hydrogen peroxide catabolic process GO:0042744 9.56 PXDNL PXDN
3 negative regulation of neuron apoptotic process GO:0043524 9.43 CRLF1 CNTFR CLCF1
4 negative regulation of motor neuron apoptotic process GO:2000672 8.92 CRLF1 CNTFR

Molecular functions related to Crisponi/cold-Induced Sweating Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine receptor activity GO:0004896 9.62 CRLF1 CNTFR
2 cytokine binding GO:0019955 9.56 CRLF1 CNTFR
3 peroxidase activity GO:0004601 9.46 PXDNL PXDN
4 ciliary neurotrophic factor receptor binding GO:0005127 9.26 CRLF1 CLCF1
5 lactoperoxidase activity GO:0140825 8.92 PXDNL PXDN

Sources for Crisponi/cold-Induced Sweating Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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