CISS3
MCID: CRS018
MIFTS: 18

Crisponi/cold-Induced Sweating Syndrome 3 (CISS3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Crisponi/cold-Induced Sweating Syndrome 3

MalaCards integrated aliases for Crisponi/cold-Induced Sweating Syndrome 3:

Name: Crisponi/cold-Induced Sweating Syndrome 3 57 75
Cold-Induced Sweating Syndrome 3 57 12 29 6
Ciss3 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur


HPO:

32
crisponi/cold-induced sweating syndrome 3:
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 617055
Disease Ontology 12 DOID:0080331

Summaries for Crisponi/cold-Induced Sweating Syndrome 3

UniProtKB/Swiss-Prot : 75 Crisponi/Cold-induced sweating syndrome 3: A form of cold-induced sweating syndrome, 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.

MalaCards based summary : Crisponi/cold-Induced Sweating Syndrome 3, is also known as cold-induced sweating syndrome 3. An important gene associated with Crisponi/cold-Induced Sweating Syndrome 3 is KLHL7 (Kelch Like Family Member 7). The drugs Immunologic Factors and Protamines have been mentioned in the context of this disorder. Related phenotypes are high palate and dysphagia

Disease Ontology : 12 A cold-induced sweating syndrome that has material basis in homozygous mutation in the KLHL7 gene on chromosome 7p15.

OMIM : 57 Crisponi/cold-induced sweating syndrome-3 is an autosomal recessive disorder characterized by infantile-onset hyperthermia and abnormal paroxysmal contractions of the facial and oropharyngeal muscles, resulting in feeding and respiratory difficulties. Other features include joint contractures and camptodactyly. Death in infancy may occur, and those that survive may develop retinitis pigmentosa later in childhood. Individuals with some forms of Crisponi syndrome may develop paradoxical cold-induced sweating later in childhood, although this is a variable finding (summary by Angius et al., 2016). For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (272430). (617055)

Related Diseases for Crisponi/cold-Induced Sweating Syndrome 3

Symptoms & Phenotypes for Crisponi/cold-Induced Sweating Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
dysphagia
feeding difficulties

Head And Neck Face:
full cheeks
abnormal contractions of the oropharyngeal muscles

Respiratory:
respiratory difficulties

Skeletal:
joint contractures

Head And Neck Eyes:
retinitis pigmentosa (in some patients)

Head And Neck Nose:
depressed nasal bridge

Skeletal Hands:
camptodactyly

Head And Neck Mouth:
high-arched palate
abnormal contractions of the oropharyngeal muscles

Metabolic Features:
hyperthermia

Skeletal Feet:
foot anomalies (in some patients)


Clinical features from OMIM:

617055

Human phenotypes related to Crisponi/cold-Induced Sweating Syndrome 3:

32
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 dysphagia 32 HP:0002015
3 full cheeks 32 HP:0000293
4 feeding difficulties 32 HP:0011968

Drugs & Therapeutics for Crisponi/cold-Induced Sweating Syndrome 3

Drugs for Crisponi/cold-Induced Sweating Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 2
2 Protamines Phase 2
3 Keyhole-limpet hemocyanin Phase 2
4 Vaccines Phase 2
5
Epicatechin Investigational Not Applicable 490-46-0 72276
6 Antioxidants Not Applicable
7
Procyanidin Not Applicable 4852-22-6 147299
8 Pharmaceutical Solutions Not Applicable
9 Protective Agents Not Applicable
10 Proanthocyanidin Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural Dendritic Cells for Immunotherapy of Chemo-naive Metastatic Castration-resistant Prostate Cancer Patients Active, not recruiting NCT02692976 Phase 2
2 Absorption, Metabolism, and Excretion of (-)-[2-14C]Epicatechin in Humans Completed NCT01969994 Not Applicable

Search NIH Clinical Center for Crisponi/cold-Induced Sweating Syndrome 3

Genetic Tests for Crisponi/cold-Induced Sweating Syndrome 3

Genetic tests related to Crisponi/cold-Induced Sweating Syndrome 3:

# Genetic test Affiliating Genes
1 Cold-Induced Sweating Syndrome 3 29 KLHL7

Anatomical Context for Crisponi/cold-Induced Sweating Syndrome 3

Publications for Crisponi/cold-Induced Sweating Syndrome 3

Variations for Crisponi/cold-Induced Sweating Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Crisponi/cold-Induced Sweating Syndrome 3:

75
# Symbol AA change Variation ID SNP ID
1 KLHL7 p.Arg372Gln VAR_077161 rs879255558
2 KLHL7 p.Arg420Cys VAR_077162 rs780705654
3 KLHL7 p.Cys421Ser VAR_077163 rs879255556

ClinVar genetic disease variations for Crisponi/cold-Induced Sweating Syndrome 3:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 KLHL7 NM_001031710.2(KLHL7): c.1022delT (p.Leu341Trpfs) deletion Pathogenic rs879255557 GRCh37 Chromosome 7, 23205402: 23205402
2 KLHL7 NM_001031710.2(KLHL7): c.1022delT (p.Leu341Trpfs) deletion Pathogenic rs879255557 GRCh38 Chromosome 7, 23165783: 23165783
3 KLHL7 NM_001031710.2(KLHL7): c.1115G> A (p.Arg372Gln) single nucleotide variant Pathogenic rs879255558 GRCh37 Chromosome 7, 23205495: 23205495
4 KLHL7 NM_001031710.2(KLHL7): c.1115G> A (p.Arg372Gln) single nucleotide variant Pathogenic rs879255558 GRCh38 Chromosome 7, 23165876: 23165876
5 KLHL7 NM_001031710.2(KLHL7): c.1258C> T (p.Arg420Cys) single nucleotide variant Pathogenic rs780705654 GRCh37 Chromosome 7, 23207535: 23207535
6 KLHL7 NM_001031710.2(KLHL7): c.1258C> T (p.Arg420Cys) single nucleotide variant Pathogenic rs780705654 GRCh38 Chromosome 7, 23167916: 23167916
7 KLHL7 NM_001031710.2(KLHL7): c.1261T> A (p.Cys421Ser) single nucleotide variant Pathogenic rs879255556 GRCh37 Chromosome 7, 23207538: 23207538
8 KLHL7 NM_001031710.2(KLHL7): c.1261T> A (p.Cys421Ser) single nucleotide variant Pathogenic rs879255556 GRCh38 Chromosome 7, 23167919: 23167919
9 KLHL7 NM_001031710.2(KLHL7): c.976C> T (p.Arg326Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs77078070 GRCh37 Chromosome 7, 23205356: 23205356
10 KLHL7 NM_001031710.2(KLHL7): c.976C> T (p.Arg326Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs77078070 GRCh38 Chromosome 7, 23165737: 23165737
11 KLHL7 NM_001031710.2(KLHL7): c.180_182delTGT (p.Val61del) deletion Uncertain significance GRCh37 Chromosome 7, 23163455: 23163457
12 KLHL7 NM_001031710.2(KLHL7): c.180_182delTGT (p.Val61del) deletion Uncertain significance GRCh38 Chromosome 7, 23123836: 23123838

Expression for Crisponi/cold-Induced Sweating Syndrome 3

Search GEO for disease gene expression data for Crisponi/cold-Induced Sweating Syndrome 3.

Pathways for Crisponi/cold-Induced Sweating Syndrome 3

GO Terms for Crisponi/cold-Induced Sweating Syndrome 3

Sources for Crisponi/cold-Induced Sweating Syndrome 3

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....