Crisponi/cold-induced sweating syndrome 2

Preferred Label : Crisponi/cold-induced sweating syndrome 2;

Symbol : CISS2;

CISMeF acronym : CISS2;

Type : Phenotype, molecular basis known;

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). Cold-induced sweating syndrome-1 (CISS1; 272430), caused by mutation in the CRLF1 gene (604237), is a clinically indistinguishable disorder.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cardiotrophin-like cytokine gene (CLCF1, 607672.0001);

Prefixed ID : #610313;

Details

Origin ID

610313;

UMLS CUI

C1853198;

Automatic exact mappings (from CISMeF team)
- CLCF1 wt Allele [NCIt concept]
- Cold-induced sweating syndrome [ORDO Disease]
- cardiotrophin like cytokine factor 1 [ORDO Gene]
- cardiotrophin like cytokine factor 1 [HGNC gene]
Broader ORDO disease(s)
- Cold-induced sweating syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cold-Induced sweating syndrome 2 [MeSH concept]
- Crisponi/Cold-Induced Sweating Syndrome-2 [NCIt concept]
- cold-induced sweating syndrome 2 [DO Concept]
DO Cross reference
- cold-induced sweating syndrome 2 [DO Concept]
Genes related to phenotype
- Cardiotrophin-like cytokine factor 1 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Abnormal foot morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly [HPO term]
- Cubitus valgus [HPO term]
- Diaphoresis [HPO term]
- Facial muscle weakness, mild [HPO term]
- Facial palsy [HPO term]
- Feeding difficulties in infancy [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperhidrosis [HPO term]
- Limited elbow extension [HPO term]
- Lumbar hyperlordosis [HPO term]
- Peripheral neuropathy, mild [HPO term]
- Prominent ears [HPO term]
- Protruding ear [HPO term]
- Radial deviation of finger [HPO term]
- Sensorimotor neuropathy [HPO term]
- Thoracolumbar scoliosis [HPO term]
ORDO concept(s)
- Cold-induced sweating syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cold-Induced sweating syndrome 2 [MeSH concept]
- Crisponi/Cold-Induced Sweating Syndrome-2 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients