| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.0%) |
17436251 |
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V. Am J Hum Genet. 2007;80(5):966-70. |
| Trismus Bilateral camptodactyly | ||
| CLCF1 CNTFR CRLF1 LIFR | ||
| rs137853143 rs768727082 | ||
| Base Sequence Child Cold Temperature Contracture Females Genes, Recessive Homo sapiens Infant, Newborn Male Muscle Contraction Mutation RNA, Messenger Receptors, Cytokine Signal Transduction Sweating Syndrome | ||
| 2 (45.3%) |
27487643 |
PERIOPERATIVE CARE OF A CHILD WITH CRISPONI SYNDROME. Rafiq M, Almasry S, Abdulrahman A, Al-Sohabani M, Tobias JD. Middle East J Anaesthesiol. 2016;23(5):563-7. |
| Trismus Excessive salivation | ||
| Congenital Hand Deformities Facies Females Fever Homo sapiens Infant Intubation, Gastrointestinal Muscle Contraction Nissen Operation Perioperative Care Trismus | ||
| 3 (45.1%) |
15637710 |
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome. Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC. Am J Med Genet A. 2005;133A(1):90-2. |
| Long philtrum Camptodactyly | ||
| Child, Preschool Congenital Hand Deformities Eye Abnormalities Homo sapiens Infant, Newborn Male Syndrome Trismus | ||
| 4 (42.7%) |
21691203 |
Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome. Cosar H, Kahramaner Z, Erdemir A, Turkoglu E, Kanik A, Sutcuoglu S, Onay H, Alpman A, Ozkinay F, Ozer EA. Clin Dysmorphol. 2011;20(4):187-9. |
| Trismus | ||
| CRLF1 | ||
| Congenital Hand Deformities Exons Facies Fever Homo sapiens Homozygote Infant, Newborn Male Muscle Contraction Phenotype Receptors, Cytokine Trismus | ||
| 4 (42.7%) |
20400119 |
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. Hahn AF, Waaler PE, Kvistad PH, Bamforth JS, Miles JH, McLeod JG, Knappskog PM, Boman H. J Neurol Sci. 2010;293(1-2):68-75. |
| Trismus | ||
| CLCF1 CRLF1 | ||
| rs137853934 | ||
| Adult Cold Temperature Females Homo sapiens Longitudinal Studies Mutation Receptors, Cytokine Sweating Sympatholytics Young Adult | ||
| 6 (40.2%) |
20186812 |
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y. Am J Med Genet A. 2010;152A(3):764-9. |
| Dolichocephaly Full cheeks | ||
| CRLF1 | ||
| Adult Age Factors Base Sequence Cold Temperature Contracture Craniofacial Abnormalities DNA Mutational Analysis Females Genes, Recessive Homo sapiens Homozygote Infant, Newborn Receptors, Cytokine Sequence Deletion Sweating Syndrome | ||
| 7 (39.0%) |
30142437 |
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome. Kanthi A, Hebbar M, Bielas SL, Girisha KM, Shukla A. Eur J Med Genet. 2019;62(6):103528. |
| Microcephaly | ||
| CRLF1 KLHL7 | ||
| c|DEL|181_183|TGT | ||
| Autoantigens Congenital Hand Deformities Craniosynostosis Facies Gene Deletion Homo sapiens Homozygote Infant Intellectual Disability Male Phenotype Protein Domain Trismus | ||
| 7 (39.0%) |
29074562 |
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Riviere JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J. J Med Genet. 2017;54(12):830-835. |
| Microcephaly | ||
| CRLF1 KLHL7 | ||
| Autoantigens Brain Child, Preschool Craniosynostosis Facies Females Genes, Recessive Genetic Association Studies Homo sapiens Infant Intellectual Disability Magnetic Resonance Imaging Male Mutation Phenotype Young Adult | ||
| 9 (37.8%) |
17436252 |
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F. Am J Hum Genet. 2007;80(5):971-81. |
| Anteverted nares Camptodactyly | ||
| CNTF CRLF1 | ||
| rs137853143 rs137853144 rs2023414 rs2023878 rs7256751 rs7258589 rs8107912 | ||
| Alleles Amino Acid Sequence Base Sequence Child Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 19 Cold Temperature DNA Females Haplotypes Homo sapiens Infant Infant, Newborn Male Models, Molecular Molecular Sequence Data Muscle Contraction Mutation Phenotype Receptors, Cytokine Sequence Homology, Amino Acid Sweating Syndrome | ||
| 10 (23.3%) |
27392078 |
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Hohne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Klc E, Zampino G, Crisponi G, Crisponi L, Rutsch F. Am J Hum Genet. 2016;99(1):236-45. |
| Scoliosis | ||
| CRLF1 | ||
| rs780705654 rs879255556 rs879255557 rs879255558 | ||
| Alleles Amino Acid Sequence Autoantigens Child Child, Preschool Congenital Hand Deformities Facies Females Homo sapiens Infant Male Models, Molecular Mutation Phenotype Retinitis Pigmentosa Syndrome Trismus |
Total: 23
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000293 | Full cheeks | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000445 | Wide nose | Very frequent (99-80%) |
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000966 | Hypohidrosis | Very frequent (99-80%) |
| HP:0000975 | Hyperhidrosis | Very frequent (99-80%) |
| HP:0001276 | Hypertonia | Very frequent (99-80%) |
| HP:0001371 | Flexion contracture | Very frequent (99-80%) |
| HP:0001522 | Death in infancy | Very frequent (99-80%) |
| HP:0001645 | Sudden cardiac death | Very frequent (99-80%) |
| HP:0002047 | Malignant hyperthermia | Very frequent (99-80%) |
| HP:0002093 | Respiratory insufficiency | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002808 | Kyphosis | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0100729 | Large face | Very frequent (99-80%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0001376 | Limitation of joint mobility | Frequent (79-30%) |
| HP:0100543 | Cognitive impairment | Frequent (79-30%) |
| HP:0000160 | Narrow mouth | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000211 | Trismus | 4 |
| HP:0011968 | Feeding difficulties | 3 |
| HP:0012385 | Camptodactyly | 3 |
| HP:0000343 | Long philtrum | 1 |
| HP:0000463 | Anteverted nares | 1 |
| HP:0000988 | Skin rash | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001276 | Hypertonia | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0001955 | Unexplained fevers | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0003781 | Excessive salivation | 1 |
| HP:0005617 | Bilateral camptodactyly | 1 |