ODCs

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2 OMIM references -
2 associated genes
No signs/symptoms info

COMMON GENES: 1
PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
24 signs/symptoms

Cold-induced sweating syndrome

Crisponi syndrome

CLCF1	(UniProt - OMIM)		CRLF1	(UniProt - OMIM)
CRLF1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CLCF1	(0.74)	CRLF1

Citations in the biomedical literature:

Cold-induced sweating syndrome		Crisponi syndrome
	Synonym(s): - CISS		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536214

Crisponi syndrome
	Very frequent - Anteverted nares / nostrils - Autosomal recessive inheritance - Broad cheeks / cherub-like / cherubin face - Broad nose / nasal bridge - Camptodactyly of some fingers - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Death in infancy - Failure to thrive / difficulties for feeding in infancy / growth delay - Hyperhidrosis / increased sweating - Hypertonia / spasticity / rigidity / stiffness - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Kyphosis - Large face - Long philtrum - Malignant hyperthermia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis Frequent - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Restricted joint mobility / joint stiffness / ankylosis Occasional - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Seizures / epilepsy / absences / spasms / status epilepticus
Cold-induced sweating syndrome
(no data available)