Cold-induced sweating syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CISS |
| Number of Symptoms | 33 |
| OrphanetNr: | 157820 |
| OMIM Id: |
272430
610313 |
| ICD-10: |
G60.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 6 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000670) | Carious teeth | 145 / 7739 | ||||
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(HPO:0000445) | Wide nose | 190 / 7739 | ||||
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(HPO:0000293) | Full cheeks | 85 / 7739 | ||||
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(HPO:0005280) | Depressed nasal bridge | 381 / 7739 | ||||
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(HPO:0010628) | Facial palsy | 146 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | 188 / 7739 | ||||
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(HPO:0000343) | Long philtrum | 262 / 7739 | ||||
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(HPO:0000278) | Retrognathia | 100 / 7739 | ||||
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(HPO:0000470) | Short neck | 345 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0100729) | Large face | 19 / 7739 | ||||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0000463) | Anteverted nares | 305 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0001250) | Seizures | rare [HPO:skoehler] | 1245 / 7739 | |||
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(HPO:0001249) | Intellectual disability | rare [HPO:skoehler] | 1089 / 7739 | |||
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(HPO:0002179) | Opisthotonus | 35 / 7739 | ||||
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(HPO:0004279) | Short palm | 323 / 7739 | ||||
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
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(HPO:0002987) | Elbow flexion contracture | 64 / 7739 | ||||
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(HPO:0001182) | Tapered finger | 93 / 7739 | ||||
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(HPO:0001181) | Adducted thumb | 31 / 7739 | ||||
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(HPO:0001763) | Pes planus | 176 / 7739 | ||||
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(HPO:0001377) | Limited elbow extension | 38 / 7739 | ||||
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(HPO:0009466) | Radial deviation of finger | 101 / 7739 | ||||
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(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
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(HPO:0002751) | Kyphoscoliosis | 131 / 7739 | ||||
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(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
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(HPO:0000975) | Hyperhidrosis | 64 / 7739 | ||||
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(HPO:0001954) | Episodic fever | 27 / 7739 | ||||
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(HPO:0002094) | Dyspnea | 132 / 7739 | ||||
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(HPO:0001611) | Nasal speech | 48 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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