CRLF1, cytokine receptor like factor 1, 9244

N. diseases: 97; N. variants: 25
Disease: Crisponi syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 Biomarker disease BEFREE Biallelic pathogenic variants in KLHL7 are known to result in Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) like phenotype and Bohring-Opitz-like syndrome. 30142437 2019
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 Biomarker disease BEFREE Interestingly, their clinical traits inconsistently overlap both the CS/CISS1-like and BOS-like phenotypes, and the siblings also have subtle differences from each other, suggesting that clinicians need to be aware of the degree of variability in the presentations of these patients. 30300710 2019
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 Biomarker disease BEFREE A subset of CS/CISS1 cases remain yet genetically unexplained after CRLF1 sequencing. 27392078 2016
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 Biomarker disease BEFREE This mutation has already been reported in another Turkish patient with CS/CISS1. 24613578 2014
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 Biomarker disease BEFREE By reporting 11 novel CRLF1 mutations, here we expand the mutational spectrum of CRLF1 in the CS/CISS1 syndrome to a total of 35 variants and present an overview of the different molecular and clinical features of all of them. 24488861 2014
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 Biomarker disease BEFREE These data seem to support the theory that CS and CISS1 are variants of the same disorder. 24008591 2013
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 GeneticVariation disease BEFREE Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome. 23181498 2012
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 Biomarker disease BEFREE We suggest renaming the two genetic entities CS and CISS1 with the broader term of Sohar-Crisponi syndrome. 21326283 2011
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 Biomarker disease BEFREE This is the first report of detailed longitudinal observation of a patient with CRLF1 abnormalities, compatible with the notion that CISS and CS may be a single clinical entity. 20186812 2010
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 Biomarker disease BEFREE Thus it is evident that Crisponi syndrome is the pediatric manifestation of both CISS1 and CISS2. 20400119 2010
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 GermlineCausalMutation disease ORPHANET The identification of CRLF1 mutations in Crisponi syndrome supports the key role of the CNTFR pathway in the function of the autonomic nervous system. 17436251 2007
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 GermlineCausalMutation disease ORPHANET We suggest that the syndromes can comprise a family of "CNTF-receptor-related disorders," of which Crisponi syndrome would be the newest member and allelic to CISS1. 17436252 2007
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 GeneticVariation disease BEFREE We suggest that the syndromes can comprise a family of "CNTF-receptor-related disorders," of which Crisponi syndrome would be the newest member and allelic to CISS1. 17436252 2007
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 GeneticVariation disease BEFREE The identification of CRLF1 mutations in Crisponi syndrome supports the key role of the CNTFR pathway in the function of the autonomic nervous system. 17436251 2007
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 Biomarker disease BEFREE We have reported mutations in the chaperone soluble receptor CLF, causing cold-induced sweating syndrome (CISS). 16782820 2006
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 GermlineCausalMutation disease ORPHANET Our findings confirm that the cold-induced sweating syndrome is an autosomal recessive disorder that is probably caused by impaired function of the CRLF1 gene, and they suggest important developmental functions for human CRLF1. 12509788 2003
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 Biomarker disease CTD_human
CUI: C1832409
Disease: Crisponi syndrome
Crisponi syndrome 		0.700 CausalMutation disease CLINVAR