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CISS1
MCID: CRS016
MIFTS: 46
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Crisponi/cold-Induced Sweating Syndrome 1 (CISS1)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Crisponi/cold-Induced Sweating Syndrome 1:
Characteristics:Orphanet epidemiological data:59
crisponi syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy high early mortality rate if untreated muscle contractions in infancy occur in response to tactile stimulation or crying fever, muscle cramping, and poor feeding remit by age 2 years cold-induced sweating develops late in the first decade clonidine can alleviate hyperhidrosis HPO:32
crisponi/cold-induced sweating syndrome 1:
Mortality/Aging death in infancy Inheritance autosomal recessive inheritance Classifications:
ICD10:
34
33
External Ids:
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1545Disease definitionCrisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.EpidemiologySince the first description of the disease in 1996, it has been described in less than 30 patients from 13 Italian (mainly Sardinian) families.Clinical descriptionExtensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. Frequent contractions of the oropharyngeal muscles associated with absence of the swallowing reflex lead to major feeding and respiratory difficulties. All patients described to date displayed facial anomalies, including a large face, chubby cheeks, a broad nose with anteverted nostrils and long philtrum, and bilateral camptodactyly. Hypertonia is frequent. Early in the neonatal period, CS patients develop continuous hyperthermia (unrelated to infectious agents), dyspnea, spells of apnea, and cyanosis during crying. Abnormal central control of respiration may be present at birth, increasing the risk of sudden death. Febrile episodes disappear after the first year of life, whereas feeding difficulties persist. Paradoxal sweating after exposure to low ambient temperatures has been observed in some adolescents.EtiologyMutations in the CRLF1 gene are causative.Differential diagnosisCS belongs to a group of conditions with overlapping features, including cold-induced sweating syndromes and Stüve-Wiedemann syndrome (see these terms).Genetic counselingThe disease is transmitted as an autosomal recessivetrait.Management and treatmentSurviving patients usually develop severe progressive kyphoscoliosis that requires corset therapy or corrective surgery. Marked feeding difficulties require nasogastric tube feeding.PrognosisCharacteristic hyperthermic crises frequently lead to death within the first months of life.Visit the Orphanet disease page for more resources.
MalaCards based summary : Crisponi/cold-Induced Sweating Syndrome 1, also known as crisponi syndrome, is related to cold-induced sweating syndrome and hyperhidrosis palmaris et plantaris, and has symptoms including dyspnea, opisthotonus and facial paresis. An important gene associated with Crisponi/cold-Induced Sweating Syndrome 1 is CRLF1 (Cytokine Receptor Like Factor 1), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Interleukin-6 family signaling. The drugs Folic Acid and Vitamin B9 have been mentioned in the context of this disorder. Affiliated tissues include eye, lung and spinal cord, and related phenotypes are high palate and hyperhidrosis Disease Ontology : 12 A cold-induced sweating syndrome that has material basis in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. OMIM : 57 Crisponi/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). (272430) UniProtKB/Swiss-Prot : 75 Crisponi/Cold-induced sweating syndrome 1: An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. 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. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. Wikipedia : 76 Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:272430Human phenotypes related to Crisponi/cold-Induced Sweating Syndrome 1:59 32 (show all 47)
UMLS symptoms related to Crisponi/cold-Induced Sweating Syndrome 1:dyspnea, opisthotonus, facial paresis |
Drugs for Crisponi/cold-Induced Sweating Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 11)
Interventional clinical trials:
Cochrane evidence based reviews: hyperhidrosis |
MalaCards organs/tissues related to Crisponi/cold-Induced Sweating Syndrome 1:41
Eye,
Lung,
Spinal Cord,
Thyroid
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Articles related to Crisponi/cold-Induced Sweating Syndrome 1:(show all 16)
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Genes related to Crisponi/cold-Induced Sweating Syndrome 1 (3 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Crisponi/cold-Induced Sweating Syndrome 1:75 (show all 14)
ClinVar genetic disease variations for Crisponi/cold-Induced Sweating Syndrome 1:6 (show all 44)
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Search
GEO
for disease gene expression data for Crisponi/cold-Induced Sweating Syndrome 1.
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Cellular components related to Crisponi/cold-Induced Sweating Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Crisponi/cold-Induced Sweating Syndrome 1 according to GeneCards Suite gene sharing:
Molecular functions related to Crisponi/cold-Induced Sweating Syndrome 1 according to GeneCards Suite gene sharing:
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