CISS3
MCID: CRS018
MIFTS: 22

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 58 76
Cold-Induced Sweating Syndrome 3 58 12 30 6
Ciss3 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur


HPO:

33
crisponi/cold-induced sweating syndrome 3:
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080331
OMIM 58 617055

Summaries for Crisponi/cold-Induced Sweating Syndrome 3

UniProtKB/Swiss-Prot : 76 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 Vaccines and Protamines have been mentioned in the context of this disorder. Affiliated tissues include prostate, and 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 : 58 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

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

33
# Description HPO Frequency HPO Source Accession
1 high palate 33 HP:0000218
2 dysphagia 33 HP:0002015
3 full cheeks 33 HP:0000293
4 feeding difficulties 33 HP:0011968

Symptoms via clinical synopsis from OMIM:

58
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

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 Vaccines Phase 2
2 Protamines Phase 2
3 Immunologic Factors Phase 2
4 Keyhole-limpet hemocyanin Phase 2
5
Epicatechin Investigational Not Applicable 490-46-0, 35323-91-2 72276
6 Pharmaceutical Solutions Not Applicable
7 Protective Agents Not Applicable
8 Proanthocyanidin Not Applicable
9
Procyanidin Not Applicable 4852-22-6 147299
10 Antioxidants 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 30 KLHL7

Anatomical Context for Crisponi/cold-Induced Sweating Syndrome 3

MalaCards organs/tissues related to Crisponi/cold-Induced Sweating Syndrome 3:

42
Prostate

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:

76
# 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 GRCh38 Chromosome 7, 23165737: 23165737
10 KLHL7 NM_001031710.2(KLHL7): c.976C> T (p.Arg326Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs77078070 GRCh37 Chromosome 7, 23205356: 23205356
11 KLHL7 NM_001031710.2(KLHL7): c.180_182delTGT (p.Val61del) deletion Uncertain significance rs1554286093 GRCh37 Chromosome 7, 23163455: 23163457
12 KLHL7 NM_001031710.2(KLHL7): c.180_182delTGT (p.Val61del) deletion Uncertain significance rs1554286093 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 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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