CISS2
MCID: CRS017
MIFTS: 27

Crisponi/cold-Induced Sweating Syndrome 2 (CISS2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Crisponi/cold-Induced Sweating Syndrome 2

MalaCards integrated aliases for Crisponi/cold-Induced Sweating Syndrome 2:

Name: Crisponi/cold-Induced Sweating Syndrome 2 58 76
Cold-Induced Sweating Syndrome 2 58 12 30 6 74
Ciss2 58 76
Sweating Syndrome, Cold-Induced, Type 2 41

Characteristics:

OMIM:

58
Miscellaneous:
feeding difficulties in infancy

Inheritance:
autosomal recessive


HPO:

33
crisponi/cold-induced sweating syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Crisponi/cold-Induced Sweating Syndrome 2

OMIM : 58 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). For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (272430). (610313)

MalaCards based summary : Crisponi/cold-Induced Sweating Syndrome 2, also known as cold-induced sweating syndrome 2, is related to cold-induced sweating syndrome. An important gene associated with Crisponi/cold-Induced Sweating Syndrome 2 is CLCF1 (Cardiotrophin Like Cytokine Factor 1). The drugs Zolpidem and Promethazine have been mentioned in the context of this disorder. Affiliated tissues include kidney and prostate, and related phenotypes are clinodactyly and high palate

Disease Ontology : 12 A cold-induced sweating syndrome that has material basis in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13.

UniProtKB/Swiss-Prot : 76 Crisponi/Cold-induced sweating syndrome 2: 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.

Related Diseases for Crisponi/cold-Induced Sweating Syndrome 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cold-induced sweating syndrome 29.4 CLCF1 LOC100130987

Symptoms & Phenotypes for Crisponi/cold-Induced Sweating Syndrome 2

Human phenotypes related to Crisponi/cold-Induced Sweating Syndrome 2:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 33 HP:0030084
2 high palate 33 HP:0000218
3 hyperhidrosis 33 HP:0000975
4 facial palsy 33 HP:0010628
5 feeding difficulties in infancy 33 HP:0008872
6 cubitus valgus 33 HP:0002967
7 abnormality of the foot 33 HP:0001760
8 protruding ear 33 HP:0000411
9 sensorimotor neuropathy 33 HP:0007141
10 2-3 toe syndactyly 33 HP:0004691
11 lumbar hyperlordosis 33 HP:0002938
12 limited elbow extension 33 HP:0001377
13 radial deviation of finger 33 HP:0009466
14 thoracolumbar scoliosis 33 HP:0002944

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
clinodactyly

Skeletal Limbs:
cubitus valgus
limited elbow extension

Head And Neck Mouth:
high-arched palate

Head And Neck Face:
mild facial weakness

Neurologic Peripheral Nervous System:
sensorimotor peripheral neuropathy, mild

Skeletal Feet:
clinodactyly
syndactyly, bilateral (2nd and 3rd toes)

Skeletal Spine:
thoracolumbar scoliosis
lumbar lordosis

Head And Neck Ears:
prominent ears

Skin Nails Hair Skin:
paradoxical sweating response (sweating induced by cold exposure, inability to sweat in hot weather)

Clinical features from OMIM:

610313

Drugs & Therapeutics for Crisponi/cold-Induced Sweating Syndrome 2

Drugs for Crisponi/cold-Induced Sweating Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zolpidem Approved Phase 4 82626-48-0 5732
2
Promethazine Approved, Investigational Phase 4 60-87-7 4927
3
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
4
Eszopiclone Approved, Investigational Phase 4 138729-47-2 969472
5 GABA-A Receptor Agonists Phase 4
6 GABA Agonists Phase 4
7 Central Nervous System Depressants Phase 4
8 Hypnotics and Sedatives Phase 4
9 Neurotransmitter Agents Phase 4
10 GABA Agents Phase 4
11 Vaccines Phase 2
12 Immunologic Factors Phase 2
13 Protamines Phase 2
14 Keyhole-limpet hemocyanin Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Chronic Hypnotic Use 2 Recruiting NCT02456532 Phase 4 placebo;Zolpidem CR;Eszopiclone
2 Natural Dendritic Cells for Immunotherapy of Chemo-naive Metastatic Castration-resistant Prostate Cancer Patients Active, not recruiting NCT02692976 Phase 2
3 Cellular Immunotherapy for Septic Shock Not yet recruiting NCT03369275 Phase 2
4 Study on the microRNA Expression Level in Postmenopausal Osteoporosis Completed NCT02128009
5 CLCF1 Gene Associated With Postmenopausal Osteoporosis of Kidney Yin Deficiency Syndrome Recruiting NCT02981732 Not Applicable

Search NIH Clinical Center for Crisponi/cold-Induced Sweating Syndrome 2

Genetic Tests for Crisponi/cold-Induced Sweating Syndrome 2

Genetic tests related to Crisponi/cold-Induced Sweating Syndrome 2:

# Genetic test Affiliating Genes
1 Cold-Induced Sweating Syndrome 2 30 CLCF1

Anatomical Context for Crisponi/cold-Induced Sweating Syndrome 2

MalaCards organs/tissues related to Crisponi/cold-Induced Sweating Syndrome 2:

42
Kidney, Prostate

Publications for Crisponi/cold-Induced Sweating Syndrome 2

Articles related to Crisponi/cold-Induced Sweating Syndrome 2:

# Title Authors Year
1
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. ( 20400119 )
2010
2
Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. ( 16782820 )
2006

Variations for Crisponi/cold-Induced Sweating Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Crisponi/cold-Induced Sweating Syndrome 2:

76
# Symbol AA change Variation ID SNP ID
1 CLCF1 p.Arg197Leu VAR_028354 rs104894203

ClinVar genetic disease variations for Crisponi/cold-Induced Sweating Syndrome 2:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCF1 NM_013246.2(CLCF1): c.321C> A (p.Tyr107Ter) single nucleotide variant Pathogenic rs104894198 GRCh37 Chromosome 11, 67132964: 67132964
2 CLCF1 NM_013246.2(CLCF1): c.321C> A (p.Tyr107Ter) single nucleotide variant Pathogenic rs104894198 GRCh38 Chromosome 11, 67365493: 67365493
3 CLCF1 NM_013246.2(CLCF1): c.590G> T (p.Arg197Leu) single nucleotide variant Pathogenic rs104894203 GRCh37 Chromosome 11, 67132695: 67132695
4 CLCF1 NM_013246.2(CLCF1): c.590G> T (p.Arg197Leu) single nucleotide variant Pathogenic rs104894203 GRCh38 Chromosome 11, 67365224: 67365224
5 CLCF1 NM_013246.2(CLCF1): c.46T> C (p.Cys16Arg) single nucleotide variant Pathogenic rs137853934 GRCh37 Chromosome 11, 67135068: 67135068
6 CLCF1 NM_013246.2(CLCF1): c.46T> C (p.Cys16Arg) single nucleotide variant Pathogenic rs137853934 GRCh38 Chromosome 11, 67367597: 67367597
7 CLCF1 NM_013246.2(CLCF1): c.676T> C (p.Ter226Arg) single nucleotide variant Pathogenic rs137853935 GRCh37 Chromosome 11, 67132609: 67132609
8 CLCF1 NM_013246.2(CLCF1): c.676T> C (p.Ter226Arg) single nucleotide variant Pathogenic rs137853935 GRCh38 Chromosome 11, 67365138: 67365138
9 CLCF1 CLCF1, 676T-C single nucleotide variant Pathogenic
10 CLCF1 NM_013246.2(CLCF1): c.163C> T (p.Arg55Cys) single nucleotide variant Uncertain significance rs560558450 GRCh38 Chromosome 11, 67367480: 67367480
11 CLCF1 NM_013246.2(CLCF1): c.163C> T (p.Arg55Cys) single nucleotide variant Uncertain significance rs560558450 GRCh37 Chromosome 11, 67134951: 67134951

Expression for Crisponi/cold-Induced Sweating Syndrome 2

Search GEO for disease gene expression data for Crisponi/cold-Induced Sweating Syndrome 2.

Pathways for Crisponi/cold-Induced Sweating Syndrome 2

GO Terms for Crisponi/cold-Induced Sweating Syndrome 2

Sources for Crisponi/cold-Induced Sweating Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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