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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/272430
http://purl.bioontology.org/ontology/OMIM/272430
|
|---|---|
| Preferred Name | CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 |
| Synonyms |
CRISPONI SYNDROME
MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY, HYPERTHERMIA, AND SUDDEN DEATH
CISS1
SOHAR-CRISPONI SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CRISPONI SYNDROME
MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY, HYPERTHERMIA, AND SUDDEN DEATH
CISS1
SOHAR-CRISPONI SYNDROME
|
|---|---|
| prefLabel | CRISPONI/COLD-INDUCED SWEATING SYNDROME 1
|
| Gene Symbol |
CISS1
CRLF1
|
| Scope Statement | Cold-induced sweating develops late in the first decade [MISCELLANEOUS]
Onset in early infancy [MISCELLANEOUS]
High early mortality rate if untreated [MISCELLANEOUS]
Fever, muscle cramping, and poor feeding remit by age 2 years [MISCELLANEOUS]
Clonidine can alleviate hyperhidrosis [MISCELLANEOUS]
Caused by mutation in the cytokine-like factor 1 gene (CRLF1, 604237.0001) [MOLECULAR BASIS]
Muscle contractions in infancy occur in response to tactile stimulation or crying [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 19p12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 272430
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1848947
C1832409
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| Moved from | 601378
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |