CISS1
MCID: CRS016
MIFTS: 52

Crisponi/cold-Induced Sweating Syndrome 1 (CISS1)

Categories: Genetic diseases, Muscle 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 72
Crisponi Syndrome 57 73 58 72 54 39 70
Cold-Induced Sweating Syndrome 1 57 12 29 6 15 70
Sohar-Crisponi Syndrome 57 72
Hyperhidrosis 44 32
Ciss1 57 72
Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death 57
Muscle Contractions Tetanoform with Characteristic Face Camptodactyly Hyperthermia and Sudden Death 72

Characteristics:

Orphanet epidemiological data:

58
crisponi syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
crisponi/cold-induced sweating syndrome 1:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


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 05-Apr-2021)

MalaCards based summary : Crisponi/cold-Induced Sweating Syndrome 1, also known as crisponi syndrome, is related to crisponi/cold-induced sweating syndrome 2 and horner's 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 Regulation of lipid metabolism Insulin signaling-generic cascades and Neuroscience. The drugs Terazosin and Adrenergic alpha-1 Receptor Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are scoliosis and large face

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.

UniProtKB/Swiss-Prot : 72 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 : 73 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 top 50) (show all 366)
# Related Disease Score Top Affiliating Genes
1 crisponi/cold-induced sweating syndrome 2 31.9 CRLF1 CNTFR CLCF1
2 horner's syndrome 30.8 TH ENO2
3 cold-induced sweating syndrome including crisponi syndrome 30.4 LOC112543470 CRLF1 CLCF1
4 cold-induced sweating syndrome 30.2 ODAM LOC112543470 KLHL7 CRLF1 CNTFR CLCF1
5 akinetic mutism 29.2 MAPT ENO2
6 peripheral nervous system disease 28.5 TH RBFOX3 MAPT ENO2
7 prion disease 28.4 TH MAPT ENO2 EIF2AK3
8 neuropathy, hereditary sensory and autonomic, type vii 11.5
9 hyperhidrosis palmaris et plantaris 11.5
10 hyperhidrosis, gustatory 11.4
11 congenital insensitivity to pain with hyperhidrosis 11.2
12 book syndrome 11.2
13 dermatopathia pigmentosa reticularis 11.0
14 keratolytic winter erythema 11.0
15 mal de meleda 11.0
16 odontoonychodermal dysplasia 11.0
17 pachyonychia congenita 1 11.0
18 neuropathy, hereditary sensory and autonomic, type iib 11.0
19 neuropathy, hereditary sensory and autonomic, type iia 11.0
20 primary hypertrophic osteoarthropathy 10.9
21 apert syndrome 10.8
22 blue rubber bleb nevus 10.8
23 ichthyosis bullosa of siemens 10.8
24 trichorhinophalangeal syndrome, type ii 10.8
25 pachyonychia congenita 2 10.8
26 trichorhinophalangeal syndrome, type i 10.8
27 papillon-lefevre syndrome 10.8
28 proteasome-associated autoinflammatory syndrome 1 10.8
29 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 10.8
30 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 10.8
31 myotonic dystrophy 2 10.8
32 spinal muscular atrophy, distal, autosomal recessive, 1 10.8
33 congenital disorder of glycosylation, type iil 10.8
34 palmoplantar keratoderma, nagashima type 10.8
35 bier spots 10.8
36 gigantism 10.8
37 keratoderma palmoplantaris transgrediens 10.8
38 morvan's fibrillary chorea 10.8
39 stevens-johnson syndrome/toxic epidermal necrolysis 10.8
40 unna-thost palmoplantar keratoderma 10.8
41 naegeli-franceschetti-jadassohn syndrome/dermatopathia pigmentosa reticularis 10.8
42 phakomatosis pigmentokeratotica 10.8
43 pneumothorax 10.6
44 virus-associated trichodysplasia spinulosa 10.4
45 autonomic dysfunction 10.3
46 ptosis 10.3
47 anxiety 10.3
48 schaaf-yang syndrome 10.2 KLHL7 CRLF1 CLCF1
49 autosomal recessive disease 10.2
50 scoliosis 10.2

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 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 large face 58 31 hallmark (90%) Very frequent (99-80%) HP:0100729
3 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
4 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
5 sudden cardiac death 58 31 hallmark (90%) Very frequent (99-80%) HP:0001645
6 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
7 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
8 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
9 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
10 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
11 malignant hyperthermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002047
12 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
13 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
14 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
15 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
16 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
17 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
18 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
19 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
20 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
21 intellectual disability 31 occasional (7.5%) HP:0001249
22 seizure 31 occasional (7.5%) HP:0001250
23 seizures 58 Occasional (29-5%)
24 facial palsy 31 HP:0010628
25 short neck 31 HP:0000470
26 depressed nasal bridge 31 HP:0005280
27 carious teeth 31 HP:0000670
28 pes planus 31 HP:0001763
29 flexion contracture 58 Very frequent (99-80%)
30 feeding difficulties in infancy 31 HP:0008872
31 retrognathia 31 HP:0000278
32 low-set ears 31 HP:0000369
33 elbow flexion contracture 31 HP:0002987
34 talipes equinovarus 31 HP:0001762
35 kyphoscoliosis 31 HP:0002751
36 dyspnea 31 HP:0002094
37 death in infancy 58 Very frequent (99-80%)
38 nasal speech 31 HP:0001611
39 adducted thumb 31 HP:0001181
40 keratitis 31 HP:0000491
41 trismus 31 HP:0000211
42 tapered finger 31 HP:0001182
43 short palm 31 HP:0004279
44 radial deviation of finger 31 HP:0009466
45 recurrent fever 31 HP:0001954
46 camptodactyly 31 HP:0012385
47 limited elbow extension 31 HP:0001377
48 opisthotonus 31 HP:0002179

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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

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 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

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 (Updated 05-Apr-2021)

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


dyspnea; opisthotonus; facial paresis

MGI Mouse Phenotypes related to Crisponi/cold-Induced Sweating Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.36 CADM1 CLCF1 CNTFR CRLF1 CYP26A1 EIF2AK3

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 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Terazosin Approved Phase 4 63590-64-7 5401
2 Adrenergic alpha-1 Receptor Antagonists Phase 4
3 Adrenergic alpha-Antagonists Phase 4
4 Adrenergic Antagonists Phase 4
5 Adrenergic Agents Phase 4
6 abobotulinumtoxinA Phase 4
7 Botulinum Toxins, Type A Phase 4
8
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
9 Anticonvulsants Phase 3
10 Bromides Phase 3
11 Botulinum Toxins Phase 2, Phase 3
12 rimabotulinumtoxinB Phase 2
13 Pharmaceutical Solutions Phase 2
14
Ethanol Approved Phase 1 64-17-5 702
15
Iodine Approved, Investigational Phase 1 7553-56-2 807
16
Cadexomer iodine Experimental Phase 1 94820-09-4
17 Anti-Infective Agents, Local Phase 1
18 Anti-Infective Agents Phase 1
19 Neurotransmitter Agents Phase 1
20 Anesthetics Phase 1
21
Glycopyrrolate Phase 1 596-51-0 3494
22 Antidepressive Agents Phase 1
23
Phenol Approved, Experimental 108-95-2 996
24
Lidocaine Approved, Vet_approved 137-58-6 3676
25
Methylene blue Approved, Investigational 61-73-4
26
Imidacloprid Vet_approved 105827-78-9 86418
27 Sclerosing Solutions
28 Disinfectants

Interventional clinical trials:

(show top 50) (show all 91)
# Name Status NCT ID Phase Drugs
1 The Use of the VASER System in the Treatment of Axillary Hyperhidrosis and/or Axillary Bromidrosis Completed NCT00735293 Phase 4
2 Use of Oxybutynin for Treating Hyperhidrosis: A Placebo-control Study. Completed NCT01310712 Phase 4 Oxybutynin;placebo
3 A Study Using Botulinum Toxin Type A in Patients With Axillary Hyperhidrosis Completed NCT00168480 Phase 4
4 A Study Using Botulinum Toxin Type A in Adolescents With Axillary Hyperhidrosis Completed NCT00168415 Phase 4
5 The Quadrant vs the Six Injection Technique in Primary Focal Hyperhidrosis Using Botulinum Toxin: a Cross-over Clinical Trial. Completed NCT03816046 Phase 4 botulinum toxin A
6 Antidepressant Induced Excessive Sweating: Measurement and Treatment With Terazosin Completed NCT00449683 Phase 4 terazosin
7 Unicentric Comparing Study of Suction Curettage With Standard BOTOX Injection in the Treatment of Patients With Essential Axillar Hyperhidrosis: Comparing of Efficacy, Duration of Effectiveness, and Adverse Events. Terminated NCT00669474 Phase 4 Treatment with Botox
8 Treatment of Hyperhidrosis With Oxybutynin: a Randomized Controlled Double Blind Against Placebo Completed NCT01855256 Phase 3 Oxybutynin;Placebo
9 A Multicenter, Randomized, Open-label, Phase 3 Long-term Safety Study of Topically Applied Sofpironium Bromide (BBI-4000) Gel, 5% and 15% in Subjects With Axillary Hyperhidrosis Completed NCT03627468 Phase 3 Sofpironium Bromide Gel, 5%;Sofpironium Bromide Gel, 15%
10 A Multicenter, Randomized, Double-blind, Parallel-group, Placebo-controlled Study Including an Open-label Phase to Evaluate the Efficacy and Safety of GSK1358820 (Botulinum Toxin Type A) in Patients With Axillary Hyperhidrosis Completed NCT01128738 Phase 3 GSK1358820;Placebo
11 A Phase III, Randomized, Double-Blind, Placebo Controlled, Multi-Center Study to Evaluate the Efficacy and Safety of MEDITOXIN in Treatment of Primary Axillary Hyperhidrosis Completed NCT03760198 Phase 3 Meditoxin
12 A Study Using Botulinum Toxin Type A in Patients With Axillary Hyperhidrosis Completed NCT00168402 Phase 3 Botulinum Toxin Type A
13 Suction-Curettage vs. Standard Excision in Axillary Hyperhidrosis Completed NCT00228072 Phase 2, Phase 3
14 A Phase 3, Randomized, Double-blind, Vehicle-controlled Efficacy and Safety Study of Glycopyrronium in Subjects With Axillary Hyperhidrosis Completed NCT02530294 Phase 3 glycopyrronium Topical Wipes
15 An Open-label Study Assessing Long-term Safety of Glycopyrronium in Subjects With Primary Axillary Hyperhidrosis Completed NCT02553798 Phase 3 Glycopyrronium Topical Wipes
16 A Phase 3, Randomized, Double-Blind, Vehicle-Controlled Efficacy and Safety Study of Glycopyrronium in Subjects With Axillary Hyperhydrosis Completed NCT02530281 Phase 3 glycopyrronium Topical Wipes
17 A Multicenter, Randomized, Double-Blinded, Vehicle-Controlled Study to Evaluate the Safety and Efficacy of Topically Applied Sofpironium Bromide Gel, 15% in Subjects With Axillary Hyperhidrosis Recruiting NCT03836287 Phase 3 Sofpironium Bromide, 15%;Vehicle
18 A Multicenter, Randomized, Double-Blinded, Vehicle-Controlled Study to Evaluate the Safety and Efficacy of Topically Applied Sofpironium Bromide Gel, 15% in Subjects With Axillary Hyperhidrosis Recruiting NCT03948646 Phase 3 Sofpironium Bromide, 15%;Vehicle
19 Prospective Multicentric Open Randomised Controlled Trial Comparing Topical Aluminium Chloride to OnabotulinumtoxinA Intradermal Injections in Residual Limb Hyperhidrosis (Lower Limbs) Recruiting NCT03433859 Phase 3 OnabotulinumtoxinA
20 Combined Randomized, Double-blind, Dose-confirming Phase 3a Study in Parallel Design to Assess the Efficacy and Safety of Topical 4-week Treatment With 1% GPB Cream vs Placebo and Open-label Phase 3b Study to Assess Long-term Efficacy and Safety in Patients With Primary Axillary Hyperhidrosis Treated With 1% GPB Cream Active, not recruiting NCT03658616 Phase 3 WO3970;Placebo (WO3988)
21 Randomized, Single-blind Comparison of Botulinum Toxin Treatment for Palmar Hyperhidrosis Via Iontophoresis Versus Intradermal Injection Terminated NCT01262339 Phase 2, Phase 3 BTX-A
22 Clinical Trial Phase III, Prospective, Randomized, Double-blind, Multicenter, National, Comparative Between Oxybutynin Chloride With Placebo to Evaluate the Efficacy and Safety for Systemic Treatment of Primary Hyperhidrosis. Withdrawn NCT02099695 Phase 3 Oxybutynin;Placebo
23 Botulinum Toxin Treatment in Craniofacial, Inguinal, Palmar, Plantar and Truncal Hyperhidrosis, a Randomized, Double Blind, Placebo Controlled Study Unknown status NCT01930604 Phase 2 Botox (onabotulinumtoxinA);NeuroBloc/Myobloc (rimabotulinumtoxinB);NaCl (placebo)
24 A Multi-Center, Open-Label Extension Study to Assess the Long-Term Safety, Tolerability and Pharmacokinetics of Sofpironium Bromide Gel, 15% Applied Topically to Children and Adolescents, ≥9 to <17 Years of Age, Previously Enrolled in BBI-4000-CL-105 Unknown status NCT03785587 Phase 2 Sofpironium Bromide Gel, 15%
25 The Use of Oxybutynin in Women After Thoracoscopic Sympathectomy and the Effect on Plantar Hyperhidrosis Completed NCT01328015 Phase 2 Oxybutynin 5 mg pills
26 Clinical Trial to Evaluate ANT-1403 in the Treatment of Primary Axillary Hyperhidrosis in Adults Completed NCT01799824 Phase 2
27 A Multicenter, Randomized, Double-Blinded, Vehicle-Controlled Study to Evaluate the Safety and Efficacy of 3 Concentrations of Topically Applied BBI-4000 (Sofpironium Bromide) Gel in Subjects With Axillary Hyperhidrosis Completed NCT03024255 Phase 2 BBI-4000 Concentration 1;BBI-4000 Concentration 2;BBI-4000 Concentration 3;Vehicle (Placebo)
28 A Phase 2, Randomized, Double-blind, Vehicle-controlled Efficacy and Safety Study of Glycopyrronium Cloth, 2.4% in Patients With Palmar Hyperhidrosis Completed NCT03880266 Phase 2 Glycopyrronium cloth, 2.4%;Vehicle
29 Clinical Trial to Evaluate ANT-1207 in the Treatment of Primary Axillary Hyperhidrosis in Adults Completed NCT02479139 Phase 2
30 A Multicenter, Randomized, Double Blind, Vehicle-Controlled Study to Evaluate the Safety and Effect on Sweat Production of 3 Concentrations of Topically Applied BBI-4000 in Subjects With Axillary Hyperhidrosis Completed NCT02336503 Phase 2 BBI-4000 Low Concentration;BBI-4000 Middle Concentration;BBI-4000 High Concentration;Placebo
31 A Multicenter, Randomized, Double-Blinded, Vehicle-Controlled Study to Evaluate the Safety and Local Tolerability of Topically Applied BBI-4000 (Sofpironium Bromide) 15% Gel in Subjects With Palmar Hyperhidrosis Completed NCT02682238 Phase 2 BBI-4000, 15%
32 A Phase 2a Study to Evaluate the Clinical Effect, Pharmacokinetics, Safety and Tolerability of Topically Applied Umeclidinium in Subjects With Primary Palmar Hyperhidrosis Completed NCT02673619 Phase 2 Umeclidinium;Vehicle
33 A Double-Blind, Randomized, Placebo-Controlled Exploratory Study to Assess the Efficacy and Safety of TC-5214 in the Treatment of Subjects With Moderate to Severe Palmar Hyperhidrosis Completed NCT03404570 Phase 2 Dexmecamylamine HCl
34 A Phase 2, Randomized, Double-Blind, Vehicle Controlled, Dose-Ranging Study of the Effect of Glycopyrrolate in Subjects With Axillary Hyperhidrosis Completed NCT02016885 Phase 2 glycopyrrolate, 1.0%;glycopyrrolate, 2.0%;glycopyrrolate, 3.0%;glycopyrrolate, 4.0%
35 Safety and Efficacy of Botulinum Toxin Type A Topical Gel for Primary Axillary Hyperhidrosis Completed NCT02565732 Phase 2
36 A Phase 2a Study to Evaluate the Pharmacokinetic, Safety, Tolerability and Clinical Effect of Topically Applied Umeclidinium/GSK573719 in Subjects With Primary Axillary Hyperhidrosis Completed NCT02563899 Phase 2 Umeclidinium;Vehicle
37 A Randomized, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of An Anticholinergic Agent for the Treatment of Primary Axillary Hyperhidrosis Completed NCT02193139 Phase 2 WL8713, 6 mg;WL8713, 12 mg;WL8713, 18 mg;WL8713, 24 mg;Placebo
38 A Phase 2, Randomized, Double-Blind Vehicle-Controlled Comparator Study of the Effect of Glycopyrrolate and Glycopyrronium in Subjects With Axillary Hyperhidrosis Completed NCT02129660 Phase 2 Dose 1 of glycopyrrolate, 2.0% QD;Dose 2 of glycopyrrolate, 3.0% QD;Dose 1 of glycopyrronium, 2.5% QD;Dose 2 of glycopyrronium, 3.75% QD
39 A Double-Blind, Randomized, Placebo-Controlled Study to Assess the Efficacy and Safety of AT-5214 in the Treatment of Subjects With Moderate to Severe Palmar Hyperhidrosis Recruiting NCT04263623 Phase 2 Dexmecamylamine HCl
40 A Randomized, Open-Label, Multiple Dose, Two-Period Crossover Study Evaluating Maximum Use 1% GPB Cream Versus Qbrexza® (Glycopyrronium) Cloth 2.4% in Men and Women With Primary Axillary Hyperhidrosis Not yet recruiting NCT04159610 Phase 2 WO3970;Qbrexza® (glycopyrronium) cloth, 2.4%, for topical use
41 Characterization of Exposure From Topical Administration of [14C] Umeclidinium to Axilla or Palm of Healthy Male Subjects Completed NCT01934153 Phase 1 [14C]Umeclidinium 18.5 mg
42 The Use of Microneedles With Topical Botulinum Toxin for Treatment of Palmar Hyperhidrosis Completed NCT03203174 Phase 1 Botulinum Toxin Type A
43 Pharmacokinetics, Local and Systemic Tolerability and Local Efficacy of Ascending Concentrations of Glycopyrronium Bromide (GPB) in a Topical Formulation in a Placebo Controlled, Double Blind Study in Subjects With Axillary Hyperhidrosis Completed NCT03037788 Phase 1 WO3979;WO3970;WO3992;Placebo (WO3988)
44 A Randomized, Double Blinded, Vehicle-Controlled Study to Evaluate the Safety and the Effect on Sweat Production of Topically Applied BBI-4000 in Subjects With Hyperhidrosis. Completed NCT02058264 Phase 1 BBI-4000
45 Randomized, Double-blind, Placebo-controlled Trial to Assess the Efficacy of Botulinum Toxin B (Myobloc) for the Treatment of Prosthesis Associated Symptomatic Sweating, or Residual Limb Hyperhidrosis in Amputees Completed NCT01671800 Phase 1 Botulinum Type B;Placebo
46 Open-Label, Active Controlled, Single-Center, Phase 1 Study to Determine the Anhidrotic Area and Safety of MEDITOXIN in Healthy Male Volunteers Completed NCT03647982 Phase 1 Meditoxin;Botox
47 Hyperhidrosis of the Residual Limb in Patients With Amputations: Developing a Treatment Approach, Aims 1 and Aim 2 Recruiting NCT03416348 Phase 1 Aluminum Chloride 20% (deodorant);Alcohol
48 Hyperhidrosis of the Residual Limb in Patients With Amputations: Developing a Treatment Approach Recruiting NCT03236012 Phase 1 Botulinum Toxin Type A (Botox)
49 A Pilot Study to Measure and Treat Antidepressant-Induced Excessive Sweating With Glycopyrrolate (AIDES-G) Terminated NCT01588717 Phase 1 Glycopyrrolate
50 Changes in Heart Rate Variability in Ventilated Patients Undergoing Tension Pneumothorax for Thoracoscopic Cervical Sympathectomy Unknown status NCT03537417

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:

40
Skin

Publications for Crisponi/cold-Induced Sweating Syndrome 1

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

(show all 38)
# 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. 6 57 54 61
17436252 2007
2
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. 6 57 61 54
17436251 2007
3
Crisponi syndrome: a new case with additional features and new mutation in CRLF1. 57 6 61
19012339 2008
4
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. 6 57
12509788 2003
5
Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome? 57 6
8723066 1996
6
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. 57 61 54
20186812 2010
7
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. 61 57
21326283 2011
8
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. 57 61
20400119 2010
9
Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus. 57 61
18837055 2008
10
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome. 57 61
15637710 2005
11
Crisponi syndrome: report of a further patient. 61 57
14598344 2003
12
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. 57
31497877 2020
13
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. 6
26752647 2016
14
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. 57
23026229 2013
15
Target-dependent specification of the neurotransmitter phenotype: cholinergic differentiation of sympathetic neurons is mediated in vivo by gp 130 signaling. 57
16319110 2006
16
Cold-induced profuse sweating on back and chest. A new genetic entity? 57
82089 1978
17
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion. 61
32433043 2020
18
Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual. 61
32492556 2020
19
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
20
[General anesthesia for Crisponi syndrome: case report]. 61
32493688 2020
21
A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features. 61
31953236 2020
22
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. 61
30300710 2019
23
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
30142437 2019
24
New macular findings in individuals with biallelic KLHL7 gene mutation. 61
30997404 2019
25
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. 61
29074562 2017
26
A new case series of Crisponi syndrome in a Turkish family and review of the literature. 61
27977424 2017
27
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 61
27392078 2016
28
PERIOPERATIVE CARE OF A CHILD WITH CRISPONI SYNDROME. 61
27487643 2016
29
A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation. 61
24613578 2014
30
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. 61
24488861 2014
31
Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome. 61
24032286 2013
32
Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome. 61
24008591 2013
33
Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome. 61
23181498 2012
34
Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome. 61
22381110 2012
35
Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome. 61
21691203 2011
36
Cold-Induced Sweating Syndrome Including Crisponi Syndrome 61
21370513 2011
37
Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. 61
20187881 2010
38
Central apneas in a case of Crisponi syndrome. 61
17921063 2008

Variations for Crisponi/cold-Induced Sweating Syndrome 1

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

6 (show all 29)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRLF1 NM_004750.5(CRLF1):c.242G>A (p.Arg81His) SNV Pathogenic 5706 rs104894670 GRCh37: 19:18710530-18710530
GRCh38: 19:18599720-18599720
2 CRLF1 NM_004750.5(CRLF1):c.676dup (p.Thr226fs) Duplication Pathogenic 5707 rs761746361 GRCh37: 19:18709262-18709263
GRCh38: 19:18598452-18598453
3 CRLF1 NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly) SNV Pathogenic 5708 rs137853143 GRCh37: 19:18710546-18710546
GRCh38: 19:18599736-18599736
4 CRLF1 NM_004750.5(CRLF1):c.527+5G>A SNV Pathogenic 5709 rs748847434 GRCh37: 19:18709577-18709577
GRCh38: 19:18598767-18598767
5 CRLF1 NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter) SNV Pathogenic 5711 rs137853144 GRCh37: 19:18705167-18705167
GRCh38: 19:18594357-18594357
6 CRLF1 CRLF1, 2-BP DEL/1-BP INS, NT708 Indel Pathogenic 5712 GRCh37:
GRCh38:
7 LOC112543470 , CRLF1 NM_004750.5(CRLF1):c.829C>T (p.Arg277Ter) SNV Pathogenic 5713 rs137853145 GRCh37: 19:18707728-18707728
GRCh38: 19:18596918-18596918
8 LOC112543470 , CRLF1 NM_004750.5(CRLF1):c.857_864del (p.Val286fs) Deletion Pathogenic 21008 rs367543004 GRCh37: 19:18707592-18707599
GRCh38: 19:18596782-18596789
9 CRLF1 NM_004750.5(CRLF1):c.1121T>G (p.Leu374Arg) SNV Pathogenic 21428 rs104894668 GRCh37: 19:18705148-18705148
GRCh38: 19:18594338-18594338
10 CRLF1 NM_004750.5(CRLF1):c.303del (p.Asn102fs) Deletion Pathogenic 21430 rs137853931 GRCh37: 19:18710469-18710469
GRCh38: 19:18599659-18599659
11 CRLF1 NM_004750.5(CRLF1):c.31_53del (p.Gln11fs) Deletion Pathogenic 21431 rs137853929 GRCh37: 19:18717414-18717436
GRCh38: 19:18606604-18606626
12 CRLF1 NM_004750.5(CRLF1):c.397+1G>A SNV Pathogenic 21432 rs137853932 GRCh37: 19:18710374-18710374
GRCh38: 19:18599564-18599564
13 CRLF1 NM_004750.5(CRLF1):c.413C>T (p.Pro138Leu) SNV Pathogenic 21433 rs137853930 GRCh37: 19:18709696-18709696
GRCh38: 19:18598886-18598886
14 CRLF1 NM_004750.5(CRLF1):c.538C>T (p.Gln180Ter) SNV Pathogenic 21434 rs137853926 GRCh37: 19:18709401-18709401
GRCh38: 19:18598591-18598591
15 LOC112543470 , CRLF1 NM_004750.5(CRLF1):c.852G>T (p.Trp284Cys) SNV Pathogenic 21436 rs137853927 GRCh37: 19:18707705-18707705
GRCh38: 19:18596895-18596895
16 CRLF1 NM_004750.5(CRLF1):c.935G>A (p.Arg312His) SNV Pathogenic 21437 rs137853933 GRCh37: 19:18707521-18707521
GRCh38: 19:18596711-18596711
17 CRLF1 NM_004750.5(CRLF1):c.713dup (p.Pro239fs) Duplication Pathogenic 216913 rs768727082 GRCh37: 19:18707843-18707844
GRCh38: 19:18597033-18597034
18 KLHL7 NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln) SNV Pathogenic 226130 rs879255558 GRCh37: 7:23205495-23205495
GRCh38: 7:23165876-23165876
19 KLHL7 NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) SNV Pathogenic 226128 rs780705654 GRCh37: 7:23207535-23207535
GRCh38: 7:23167916-23167916
20 KLHL7 NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) Deletion Pathogenic 226129 rs879255557 GRCh37: 7:23205399-23205399
GRCh38: 7:23165780-23165780
21 KLHL7 NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) SNV Pathogenic 226127 rs879255556 GRCh37: 7:23207538-23207538
GRCh38: 7:23167919-23167919
22 CRLF1 NM_004750.5(CRLF1):c.985dup (p.Glu329fs) Duplication Pathogenic 816854 rs1600650861 GRCh37: 19:18707470-18707471
GRCh38: 19:18596660-18596661
23 CRLF1 NM_004750.5(CRLF1):c.531G>A (p.Trp177Ter) SNV Pathogenic 929438 GRCh37: 19:18709408-18709408
GRCh38: 19:18598598-18598598
24 CRLF1 NM_004750.5(CRLF1):c.983dup (p.Ser328fs) Duplication Pathogenic 418665 rs1555758035 GRCh37: 19:18707472-18707473
GRCh38: 19:18596662-18596663
25 LOC112543470 , CRLF1 NM_004750.5(CRLF1):c.843_844TG[1] (p.Val282fs) Microsatellite Pathogenic 224612 rs137853928 GRCh37: 19:18707711-18707712
GRCh38: 19:18596901-18596902
26 CRLF1 NM_004750.5(CRLF1):c.460del (p.Arg154fs) Deletion Pathogenic 1032933 GRCh37: 19:18709649-18709649
GRCh38: 19:18598839-18598839
27 CRLF1 NM_004750.5(CRLF1):c.935G>T (p.Arg312Leu) SNV Likely pathogenic 929437 rs137853933 GRCh37: 19:18707521-18707521
GRCh38: 19:18596711-18596711
28 CRLF1 NM_004750.5(CRLF1):c.242G>A (p.Arg81His) SNV Benign 39410 rs104894670 GRCh37: 19:18710530-18710530
GRCh38: 19:18599720-18599720
29 CRLF1 NM_004750.5(CRLF1):c.66_68GCT[3] (p.Leu26del) Microsatellite Benign 224611 rs34503316 GRCh37: 19:18717390-18717392
GRCh38: 19:18606580-18606582

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

72 (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 rs129548877
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
12.13 JAK1 EIF2AK3 CRLF1 CNTFR CLCF1
2 11.99 TH RBFOX3 MAPT ENO2
3
Show member pathways
10.69 JAK1 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 CNTFR-CLCF1 complex GO:0097059 8.96 CNTFR CLCF1
2 CRLF-CLCF1 complex GO:0097058 8.62 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 negative regulation of neuron apoptotic process GO:0043524 9.43 CRLF1 CNTFR CLCF1
2 axon development GO:0061564 9.16 PLP1 MAPT
3 cytokine-mediated signaling pathway GO:0019221 9.02 PLP2 JAK1 CRLF1 CNTFR CLCF1
4 interleukin-27-mediated signaling pathway GO:0070106 8.96 JAK1 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 ciliary neurotrophic factor receptor binding GO:0005127 8.62 CRLF1 CLCF1

Sources for Crisponi/cold-Induced Sweating Syndrome 1

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
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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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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