CISS2
MCID: CRS017
MIFTS: 21

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 57 75
Cold-Induced Sweating Syndrome 2 57 12 29 6 73
Ciss2 57 75
Sweating Syndrome, Cold-Induced, Type 2 40

Characteristics:

OMIM:

57
Miscellaneous:
feeding difficulties in infancy

Inheritance:
autosomal recessive


HPO:

32
crisponi/cold-induced sweating syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Crisponi/cold-Induced Sweating Syndrome 2

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). 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 Eszopiclone and Zolpidem have been mentioned in the context of this disorder. 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 : 75 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 29.7 CLCF1 LOC100130987

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 32 HP:0030084
2 high palate 32 HP:0000218
3 hyperhidrosis 32 HP:0000975
4 facial palsy 32 HP:0010628
5 feeding difficulties in infancy 32 HP:0008872
6 cubitus valgus 32 HP:0002967
7 abnormality of the foot 32 HP:0001760
8 protruding ear 32 HP:0000411
9 sensorimotor neuropathy 32 HP:0007141
10 2-3 toe syndactyly 32 HP:0004691
11 lumbar hyperlordosis 32 HP:0002938
12 limited elbow extension 32 HP:0001377
13 radial deviation of finger 32 HP:0009466
14 thoracolumbar scoliosis 32 HP:0002944

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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eszopiclone Approved, Investigational Phase 4 138729-47-2 969472
2
Zolpidem Approved Phase 4 82626-48-0 5732
3 Neurotransmitter Agents Phase 4
4 GABA Agonists Phase 4
5 GABA-A Receptor Agonists Phase 4
6 Hypnotics and Sedatives Phase 4
7 GABA Agents Phase 4
8 Central Nervous System Depressants Phase 4
9 Immunologic Factors Phase 2
10 Protamines Phase 2
11 Keyhole-limpet hemocyanin Phase 2
12 Vaccines 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 Cellular Immunotherapy for Septic Shock Not yet recruiting NCT03369275 Phase 2
3 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 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 29 CLCF1

Anatomical Context for Crisponi/cold-Induced Sweating Syndrome 2

Publications for Crisponi/cold-Induced Sweating Syndrome 2

Variations for Crisponi/cold-Induced Sweating Syndrome 2

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

75
# 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 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
Content
Loading form....