ORPHA:157820
Cold-induced sweating syndrome
Synonyms: CISS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Childhood
- Status
- active
Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cold-induced sweating syndrome | CISS |
| fr | Syndrome de la transpiration induite par le froid | = en |
| de | Kälteinduziertes Schwitzen | CISS · Syndrom des kälte-induzierten Schwitzens |
| es | Síndrome de sudoración inducida por frío | = en |
| it | Sindrome della sudorazione indotta dal freddo | = en |
| nl | Koudegeïnduceerd zweten-syndroom | = en |
| pt | Síndrome do suor induzido pelo frio | |
| pl | Zespół potliwości indukowany chłodem | = en |
| cs | Syndrom pocení vyvolaného chladem | = en |
| uk | Синдром потовиділення, викликаний холодом | = en |
| zh | 低温诱导出汗综合征 | = en |
| tr | Soğukla indüklenen terleme sendromu | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 272430 | NTBT | validated | |
| OMIM | 610313 | BTNT | validated | |
| ICD-10 | G90.8 | NTBT | attributed | validated |
| ICD-11 | 8C21.Y | NTBT | index | validated |
| MONDO | 0015526 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:401993Cold-induced sweating syndrome-hyperthermia spectrum
rare genetic diseases; rare neurological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KLHL7 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15646 | ENSG00000122550 | 611119 | 7p15.3 | kelch like family member 7 | 27392078[PMID] |
| CLCF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17412 | ENSG00000175505 | 607672 | 11q13.2 | cardiotrophin like cytokine factor 1 | 1678282[PMID]_21370513[PMID]_20400119[PMID] |
| CRLF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2364 | ENSG00000006016 | 604237 | 19p12 | cytokine receptor like factor 1 | 21370513[PMID]_12509788[PMID]_17436251[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157820
- This record as JSON: /data/d/157820.json