CISS1
MCID: CRS016
MIFTS: 46

Crisponi/cold-Induced Sweating Syndrome 1 (CISS1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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 75
Crisponi Syndrome 57 76 53 59 75 55 40 73
Cold-Induced Sweating Syndrome 1 57 12 29 13 6 73
Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death 57 53
Sohar-Crisponi Syndrome 57 75
Ciss1 57 75
Muscle Contractions Tetanoform with Characteristic Face Camptodactyly Hyperthermia and Sudden Death 75
Hyperhidrosis 44

Characteristics:

Orphanet epidemiological data:

59
crisponi syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
crisponi/cold-induced sweating syndrome 1:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Crisponi/cold-Induced Sweating Syndrome 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1545Disease definitionCrisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.EpidemiologySince the first description of the disease in 1996, it has been described in less than 30 patients from 13 Italian (mainly Sardinian) families.Clinical descriptionExtensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. Frequent contractions of the oropharyngeal muscles associated with absence of the swallowing reflex lead to major feeding and respiratory difficulties. All patients described to date displayed facial anomalies, including a large face, chubby cheeks, a broad nose with anteverted nostrils and long philtrum, and bilateral camptodactyly. Hypertonia is frequent. Early in the neonatal period, CS patients develop continuous hyperthermia (unrelated to infectious agents), dyspnea, spells of apnea, and cyanosis during crying. Abnormal central control of respiration may be present at birth, increasing the risk of sudden death. Febrile episodes disappear after the first year of life, whereas feeding difficulties persist. Paradoxal sweating after exposure to low ambient temperatures has been observed in some adolescents.EtiologyMutations in the CRLF1 gene are causative.Differential diagnosisCS belongs to a group of conditions with overlapping features, including cold-induced sweating syndromes and Stüve-Wiedemann syndrome (see these terms).Genetic counselingThe disease is transmitted as an autosomal recessivetrait.Management and treatmentSurviving patients usually develop severe progressive kyphoscoliosis that requires corset therapy or corrective surgery. Marked feeding difficulties require nasogastric tube feeding.PrognosisCharacteristic hyperthermic crises frequently lead to death within the first months of life.Visit the Orphanet disease page for more resources.

MalaCards based summary : Crisponi/cold-Induced Sweating Syndrome 1, also known as crisponi syndrome, is related to cold-induced sweating syndrome and hyperhidrosis palmaris et plantaris, 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 Regulation of lipid metabolism Insulin signaling-generic cascades and Interleukin-6 family signaling. The drugs Folic Acid and Vitamin B9 have been mentioned in the context of this disorder. Affiliated tissues include eye, lung and spinal cord, and related phenotypes are high palate and hyperhidrosis

Disease Ontology : 12 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.

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). (272430)

UniProtKB/Swiss-Prot : 75 Crisponi/Cold-induced sweating syndrome 1: 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.

Wikipedia : 76 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
Crisponi/cold-Induced Sweating Syndrome 3

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

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 cold-induced sweating syndrome 29.4 CLCF1 CRLF1 KLHL7
2 hyperhidrosis palmaris et plantaris 12.4
3 cold-induced sweating syndrome including crisponi syndrome 12.2
4 congenital insensitivity to pain with hyperhidrosis 12.2
5 hyperhidrosis, gustatory 12.1
6 neuropathy, hereditary sensory and autonomic, type vii 12.0
7 book syndrome 11.6
8 neuropathy, hereditary sensory and autonomic, type iia 11.4
9 anhidrosis 11.3
10 hypohidrosis 11.3
11 primary hypertrophic osteoarthropathy 11.2
12 mal de meleda 11.1
13 crisponi/cold-induced sweating syndrome 2 11.1
14 crisponi/cold-induced sweating syndrome 3 11.1
15 dermatopathia pigmentosa reticularis 11.1
16 keratolytic winter erythema 11.1
17 odontoonychodermal dysplasia 11.1
18 neuropathy, hereditary sensory and autonomic, type iib 11.1
19 blue rubber bleb nevus 10.9
20 ichthyosis bullosa of siemens 10.9
21 pachyonychia congenita 1 10.9
22 pachyonychia congenita 2 10.9
23 papillon-lefevre syndrome 10.9
24 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 10.9
25 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 10.9
26 myotonic dystrophy 2 10.9
27 congenital disorder of glycosylation, type iil 10.9
28 palmoplantar keratoderma, nagashima type 10.9
29 bier spots 10.9
30 gigantism 10.9
31 unna-thost palmoplantar keratoderma 10.9
32 phakomatosis pigmentokeratotica 10.9
33 syringomyelia 10.2
34 horner's syndrome 10.1
35 tetanus 10.0
36 anxiety 10.0
37 dermatitis 10.0
38 neuropathy 10.0
39 lung cancer 9.9
40 myxedema 9.9
41 pulmonary alveolar microlithiasis 9.9
42 spinal cord injury 9.9
43 social phobia 9.9
44 palmoplantar keratosis 9.9
45 hypertrichosis 9.9
46 herpes zoster 9.9
47 pompholyx 9.9
48 shapiro syndrome 9.9
49 acroosteolysis 9.8
50 adie pupil 9.8

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Nose:
depressed nasal bridge
long philtrum
anteverted nostrils
broad nose

Abdomen Gastrointestinal:
feeding difficulties

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

Skeletal Feet:
club feet

Skeletal Limbs:
elbow contractures

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 Neck:
short neck
neck muscle hypertonia

Head And Neck Face:
large face
micrognathia
retrognathia
facial weakness
chubby cheeks
more
Respiratory:
dyspnea
apneic spells

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

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

Metabolic Features:
hyperthermia, episodic
variable fever

Voice:
nasal voice

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

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

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
2 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 sudden cardiac death 59 32 hallmark (90%) Very frequent (99-80%) HP:0001645
5 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
6 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
7 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
8 large face 59 32 hallmark (90%) Very frequent (99-80%) HP:0100729
9 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
10 hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001276
11 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
12 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
13 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
14 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
15 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
16 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
17 hypohidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000966
18 malignant hyperthermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002047
19 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
20 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
21 wide nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000445
22 low-set ears 32 HP:0000369
23 short neck 32 HP:0000470
24 intellectual disability 32 occasional (7.5%) HP:0001249
25 facial palsy 32 HP:0010628
26 depressed nasal bridge 32 HP:0005280
27 carious teeth 32 HP:0000670
28 pes planus 32 HP:0001763
29 flexion contracture 59 Very frequent (99-80%)
30 feeding difficulties in infancy 32 HP:0008872
31 dyspnea 32 HP:0002094
32 retrognathia 32 HP:0000278
33 death in infancy 59 Very frequent (99-80%)
34 short palm 32 HP:0004279
35 elbow flexion contracture 32 HP:0002987
36 talipes equinovarus 32 HP:0001762
37 keratitis 32 HP:0000491
38 nasal speech 32 HP:0001611
39 adducted thumb 32 HP:0001181
40 trismus 32 HP:0000211
41 tapered finger 32 HP:0001182
42 kyphoscoliosis 32 HP:0002751
43 opisthotonus 32 HP:0002179
44 limited elbow extension 32 HP:0001377
45 episodic fever 32 HP:0001954
46 radial deviation of finger 32 HP:0009466
47 camptodactyly 32 HP:0012385

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


dyspnea, opisthotonus, facial paresis

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

Drugs for Crisponi/cold-Induced Sweating Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
2 Vitamin B9 Phase 2, Phase 3
3 Vitamins Phase 2, Phase 3
4 Vitamin B Complex Phase 2, Phase 3
5 Folate Phase 2, Phase 3
6 Micronutrients Phase 2, Phase 3
7 Trace Elements Phase 2, Phase 3
8 Immunologic Factors Phase 2
9 Protamines Phase 2
10 Keyhole-limpet hemocyanin Phase 2
11 Vaccines Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Mixture Myoinositol:D-chiro-inositol 3.6:1 in Women With Polycystic Ovary Syndrome Completed NCT03201601 Phase 2, Phase 3 D-chiro-inositol;Myoinositol
2 Natural Dendritic Cells for Immunotherapy of Chemo-naive Metastatic Castration-resistant Prostate Cancer Patients Active, not recruiting NCT02692976 Phase 2

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

Cochrane evidence based reviews: hyperhidrosis

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 29 CRLF1

Anatomical Context for Crisponi/cold-Induced Sweating Syndrome 1

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

41
Eye, Lung, Spinal Cord, Thyroid

Publications for Crisponi/cold-Induced Sweating Syndrome 1

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

(show all 16)
# Title Authors Year
1
A new case series of Crisponi syndrome in a Turkish family and review of the literature. ( 27977424 )
2017
2
PERIOPERATIVE CARE OF A CHILD WITH CRISPONI SYNDROME. ( 27487643 )
2016
3
Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome. ( 24032286 )
2013
4
Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome. ( 24008591 )
2013
5
Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome. ( 23181498 )
2012
6
Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome. ( 22381110 )
2012
7
Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome. ( 21691203 )
2011
8
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. ( 20186812 )
2010
9
Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. ( 20187881 )
2010
10
Crisponi syndrome: a new case with additional features and new mutation in CRLF1. ( 19012339 )
2008
11
Central apneas in a case of Crisponi syndrome. ( 17921063 )
2008
12
Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus. ( 18837055 )
2008
13
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. ( 17436252 )
2007
14
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome. ( 15637710 )
2005
15
Crisponi syndrome: report of a further patient. ( 14598344 )
2003
16
Cold-Induced Sweating Syndrome including Crisponi Syndrome ( 21370513 )
1993

Variations for Crisponi/cold-Induced Sweating Syndrome 1

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

75 (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
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
14 CRLF1 p.Arg340Cys VAR_070827 rs771459625

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

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRLF1 NM_004750.4(CRLF1): c.242G> A (p.Arg81His) single nucleotide variant Benign rs104894670 GRCh37 Chromosome 19, 18710530: 18710530
2 CRLF1 NM_004750.4(CRLF1): c.242G> A (p.Arg81His) single nucleotide variant Benign rs104894670 GRCh38 Chromosome 19, 18599720: 18599720
3 CRLF1 CRLF1, 1-BP INS, 676A insertion Pathogenic
4 CRLF1 NM_004750.4(CRLF1): c.226T> G (p.Trp76Gly) single nucleotide variant Pathogenic rs137853143 GRCh37 Chromosome 19, 18710546: 18710546
5 CRLF1 NM_004750.4(CRLF1): c.226T> G (p.Trp76Gly) single nucleotide variant Pathogenic rs137853143 GRCh38 Chromosome 19, 18599736: 18599736
6 CRLF1 CRLF1, 527+5G-A single nucleotide variant Pathogenic
7 CRLF1 CRLF1, 1-BP DUP, 713C duplication Pathogenic
8 CRLF1 NM_004750.4(CRLF1): c.1102A> T (p.Lys368Ter) single nucleotide variant Pathogenic rs137853144 GRCh37 Chromosome 19, 18705167: 18705167
9 CRLF1 NM_004750.4(CRLF1): c.1102A> T (p.Lys368Ter) single nucleotide variant Pathogenic rs137853144 GRCh38 Chromosome 19, 18594357: 18594357
10 CRLF1 CRLF1, 2-BP DEL/1-BP INS, NT708 indel Pathogenic
11 CRLF1 NM_004750.4(CRLF1): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic rs137853145 GRCh37 Chromosome 19, 18707728: 18707728
12 CRLF1 NM_004750.4(CRLF1): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic rs137853145 GRCh38 Chromosome 19, 18596918: 18596918
13 CRLF1 NM_004750.4(CRLF1): c.857_864delTGGTGGAC (p.Val286Glyfs) deletion Pathogenic rs367543004 GRCh37 Chromosome 19, 18707592: 18707599
14 CRLF1 NM_004750.4(CRLF1): c.857_864delTGGTGGAC (p.Val286Glyfs) deletion Pathogenic rs367543004 GRCh38 Chromosome 19, 18596782: 18596789
15 CRLF1 NM_004750.4(CRLF1): c.1121T> G (p.Leu374Arg) single nucleotide variant Pathogenic rs104894668 GRCh37 Chromosome 19, 18705148: 18705148
16 CRLF1 NM_004750.4(CRLF1): c.1121T> G (p.Leu374Arg) single nucleotide variant Pathogenic rs104894668 GRCh38 Chromosome 19, 18594338: 18594338
17 CRLF1 NM_004750.4(CRLF1): c.303delC (p.Asn102Thrfs) deletion Pathogenic rs137853931 GRCh37 Chromosome 19, 18710469: 18710469
18 CRLF1 NM_004750.4(CRLF1): c.303delC (p.Asn102Thrfs) deletion Pathogenic rs137853931 GRCh38 Chromosome 19, 18599659: 18599659
19 CRLF1 NM_004750.4(CRLF1): c.31_53del23 (p.Gln11Valfs) deletion Pathogenic rs137853929 GRCh37 Chromosome 19, 18717414: 18717436
20 CRLF1 NM_004750.4(CRLF1): c.31_53del23 (p.Gln11Valfs) deletion Pathogenic rs137853929 GRCh38 Chromosome 19, 18606604: 18606626
21 CRLF1 NM_004750.4(CRLF1): c.397+1G> A single nucleotide variant Pathogenic rs137853932 GRCh37 Chromosome 19, 18710374: 18710374
22 CRLF1 NM_004750.4(CRLF1): c.397+1G> A single nucleotide variant Pathogenic rs137853932 GRCh38 Chromosome 19, 18599564: 18599564
23 CRLF1 NM_004750.4(CRLF1): c.413C> T (p.Pro138Leu) single nucleotide variant Pathogenic rs137853930 GRCh37 Chromosome 19, 18709696: 18709696
24 CRLF1 NM_004750.4(CRLF1): c.413C> T (p.Pro138Leu) single nucleotide variant Pathogenic rs137853930 GRCh38 Chromosome 19, 18598886: 18598886
25 CRLF1 NM_004750.4(CRLF1): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic rs137853926 GRCh37 Chromosome 19, 18709401: 18709401
26 CRLF1 NM_004750.4(CRLF1): c.538C> T (p.Gln180Ter) single nucleotide variant Pathogenic rs137853926 GRCh38 Chromosome 19, 18598591: 18598591
27 CRLF1 NM_004750.4(CRLF1): c.852G> T (p.Trp284Cys) single nucleotide variant Pathogenic rs137853927 GRCh37 Chromosome 19, 18707705: 18707705
28 CRLF1 NM_004750.4(CRLF1): c.852G> T (p.Trp284Cys) single nucleotide variant Pathogenic rs137853927 GRCh38 Chromosome 19, 18596895: 18596895
29 CRLF1 NM_004750.4(CRLF1): c.935G> A (p.Arg312His) single nucleotide variant Pathogenic rs137853933 GRCh37 Chromosome 19, 18707521: 18707521
30 CRLF1 NM_004750.4(CRLF1): c.935G> A (p.Arg312His) single nucleotide variant Pathogenic rs137853933 GRCh38 Chromosome 19, 18596711: 18596711
31 CRLF1 NM_004750.4(CRLF1): c.713dupC (p.Pro239Alafs) duplication Pathogenic rs768727082 GRCh38 Chromosome 19, 18597034: 18597034
32 CRLF1 NM_004750.4(CRLF1): c.713dupC (p.Pro239Alafs) duplication Pathogenic rs768727082 GRCh37 Chromosome 19, 18707844: 18707844
33 CRLF1 NM_004750.4(CRLF1): c.845_846delTG (p.Val282GlyfsTer47) deletion Pathogenic rs137853928 GRCh38 Chromosome 19, 18596901: 18596902
34 CRLF1 NM_004750.4(CRLF1): c.845_846delTG (p.Val282GlyfsTer47) deletion Pathogenic rs137853928 GRCh37 Chromosome 19, 18707711: 18707712
35 CRLF1 NM_004750.4(CRLF1): c.75_77delGCT (p.Leu26del) deletion Benign rs34503316 GRCh37 Chromosome 19, 18717390: 18717392
36 CRLF1 NM_004750.4(CRLF1): c.75_77delGCT (p.Leu26del) deletion Benign rs34503316 GRCh38 Chromosome 19, 18606580: 18606582
37 KLHL7 NM_001031710.2(KLHL7): c.1022delT (p.Leu341Trpfs) deletion Pathogenic rs879255557 GRCh37 Chromosome 7, 23205402: 23205402
38 KLHL7 NM_001031710.2(KLHL7): c.1022delT (p.Leu341Trpfs) deletion Pathogenic rs879255557 GRCh38 Chromosome 7, 23165783: 23165783
39 KLHL7 NM_001031710.2(KLHL7): c.1115G> A (p.Arg372Gln) single nucleotide variant Pathogenic rs879255558 GRCh37 Chromosome 7, 23205495: 23205495
40 KLHL7 NM_001031710.2(KLHL7): c.1115G> A (p.Arg372Gln) single nucleotide variant Pathogenic rs879255558 GRCh38 Chromosome 7, 23165876: 23165876
41 KLHL7 NM_001031710.2(KLHL7): c.1258C> T (p.Arg420Cys) single nucleotide variant Pathogenic rs780705654 GRCh37 Chromosome 7, 23207535: 23207535
42 KLHL7 NM_001031710.2(KLHL7): c.1258C> T (p.Arg420Cys) single nucleotide variant Pathogenic rs780705654 GRCh38 Chromosome 7, 23167916: 23167916
43 KLHL7 NM_001031710.2(KLHL7): c.1261T> A (p.Cys421Ser) single nucleotide variant Pathogenic rs879255556 GRCh37 Chromosome 7, 23207538: 23207538
44 KLHL7 NM_001031710.2(KLHL7): c.1261T> A (p.Cys421Ser) single nucleotide variant Pathogenic rs879255556 GRCh38 Chromosome 7, 23167919: 23167919

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

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 CRLF-CLCF1 complex GO:0097058 8.62 CLCF1 CRLF1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.32 CLCF1 CRLF1
2 regulation of signaling receptor activity GO:0010469 9.26 CLCF1 CRLF1
3 cytokine-mediated signaling pathway GO:0019221 9.16 CLCF1 CRLF1
4 negative regulation of neuron apoptotic process GO:0043524 8.96 CLCF1 CRLF1
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 8.62 CLCF1 CRLF1

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

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

Sources for Crisponi/cold-Induced Sweating Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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