CISS1
MCID: CRS016
MIFTS: 43
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Crisponi/cold-Induced Sweating Syndrome 1 (CISS1)
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Crisponi/cold-Induced Sweating Syndrome 1:
Characteristics:Inheritance:
Crisponi/cold-Induced Sweating Syndrome 1:
Autosomal recessive 57
Crisponi Syndrome:
Autosomal recessive 58
Prevelance:
Crisponi Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Crisponi Syndrome:
Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
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 Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
32
Orphanet: 58
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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). Buers et al. (2020) provided a detailed review of Crisponi/CISS, including clinical features, diagnosis, and evolution of the disease, differential diagnosis, pathogenesis, and recommended management and treatment. (272430) (Updated 08-Dec-2022) MalaCards based summary: Crisponi/cold-Induced Sweating Syndrome 1, also known as crisponi syndrome, is related to crisponi/cold-induced sweating syndrome 2 and cold-induced sweating syndrome including crisponi syndrome, 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 Translation Insulin regulation of translation and Interleukin-6 family signaling. Affiliated tissues include brain, and related phenotypes are scoliosis and large face UniProtKB/Swiss-Prot: 73 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. Disease Ontology: 11 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. Orphanet: 58 Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Wikipedia: 75 Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1... more... |
Human phenotypes related to Crisponi/cold-Induced Sweating Syndrome 1:58 30 (show all 47)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:272430 (Updated 08-Dec-2022)UMLS symptoms related to Crisponi/cold-Induced Sweating Syndrome 1:dyspnea; opisthotonus; facial paresis |
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Organs/tissues related to Crisponi/cold-Induced Sweating Syndrome 1:
MalaCards :
Brain
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Articles related to Crisponi/cold-Induced Sweating Syndrome 1:(show all 48)
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ClinVar genetic disease variations for Crisponi/cold-Induced Sweating Syndrome 1:5 (show all 26)
UniProtKB/Swiss-Prot genetic disease variations for Crisponi/cold-Induced Sweating Syndrome 1:73 (show all 14)
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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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