Crisponi/cold-induced sweating syndrome 1

Preferred Label : Crisponi/cold-induced sweating syndrome 1;

Symbol : CISS1;

CISMeF acronym : CISS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sohar-crisponi syndrome; Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death; Crisponi syndrome;

Description : Cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. 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. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). - Genetic Heterogeneity of Cold-Induced Sweating Cold-induced sweating syndrome-2 (CISS2; 610313), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (607672) on chromosome 11q13.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytokine-like factor 1 gene (CRLF1, 604237.0001);

Prefixed ID : #272430;

Details

Origin ID

272430;

UMLS CUI

C1848947;

Broader ORDO disease(s)
- Cold-induced sweating syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cold-Induced sweating syndrome 1 [MeSH concept]
- Crisponi/Cold-Induced Sweating Syndrome-1 [NCIt concept]
- cold-induced sweating syndrome 1 [DO Concept]
DO Cross reference
- cold-induced sweating syndrome 1 [DO Concept]
Genes related to phenotype
- Cytokine receptor-like factor 1 [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Carious teeth [HPO term]
- Depressed nasal bridge [HPO term]
- Dyspnea [HPO term]
- Elbow flexion contracture [HPO term]
- Facial palsy [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flattened nasal bridge [HPO term]
- Full cheeks [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperhidrosis [HPO term]
- Intellectual disability [HPO term]
- Keratitis [HPO term]
- Kyphoscoliosis [HPO term]
- Large face [HPO term]
- Limited elbow extension [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Nasal speech [HPO term]
- Opisthotonus [HPO term]
- Pes planus [HPO term]
- Radial deviation of finger [HPO term]
- Recurrent fever [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short palm [HPO term]
- Talipes equinovarus [HPO term]
- Tapered finger [HPO term]
- Trismus [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Cold-induced sweating syndrome [ORDO Disease]
- Crisponi syndrome [ORDO Disease]
See also inter- (CISMeF)
- CRLF1 wt Allele [NCIt concept]
- Crisponi syndrome [Disease (Nov.)]
- Crisponi syndrome [ICD-11 More detail]
- cytokine receptor like factor 1 [ORDO Gene]
- cytokine receptor like factor 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cold-Induced sweating syndrome 1 [MeSH concept]
- Crisponi/Cold-Induced Sweating Syndrome-1 [NCIt concept]
Validated automatic mappings to NTBT
- Cold-induced sweating syndrome [ORDO Disease]
- Cold-induced sweating syndrome (disorder) [SNOMED CT concept]
- Crisponi syndrome [MeSH concept]
- Crisponi syndrome [ORDO Disease]
- Crisponi syndrome (disorder) [SNOMED CT concept]
- cold-induced sweating syndrome [DO Concept]
- crisponi syndrome [MeSH Supplementary Concept]

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