MCID: CRS006
MIFTS: 32

Crisponi Syndrome malady

Rare diseases, Neuronal diseases, Fetal diseases categories
Download this MalaCard

Summaries for Crisponi Syndrome

About this section
Sources:
65Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
Wikipedia:65 Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene. more...

MalaCards: Crisponi Syndrome, also known as muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death, is related to cold-induced sweating syndrome and cold-induced sweating syndrome 1, and has symptoms including anteverted nares/nostrils, contractures/cramps/trismus/tetania/claudication/opisthotonos and broad cheeks/cherub-like/cherubin face. An important gene associated with Crisponi Syndrome is CRLF1 (cytokine receptor-like factor 1), and among its related pathways is Translation Insulin regulation of translation. Affiliated tissues include lung.

Description from OMIM:47 601378

Aliases & Classifications for Crisponi Syndrome

About this section
Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 36MESH via Orphanet, 63UMLS via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
crisponi syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

crisponi syndrome 43 45 49 47 62
muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death 43


External Ids:

OMIM47 601378
MESH via Orphanet36 C536214
UMLS via Orphanet63 C1832409
ICD10 via Orphanet26 G90.8

Related Diseases for Crisponi Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Crisponi Syndrome:



Diseases related to crisponi syndrome

Symptoms for Crisponi Syndrome

About this section
Sources:
47OMIM, 49Orphanet
See all sources


Clinical features from OMIM:

601378

Symptoms:

49 (show all 24)
  • anteverted nares/nostrils
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • broad cheeks/cherub-like/cherubin face
  • long philtrum
  • micrognathia/retrognathia/micrognathism/retrognathism
  • death in infancy
  • microstomia/little mouth
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • camptodactyly of some fingers
  • malignant hyperthermia
  • restricted joint mobility/joint stiffness/ankylosis
  • broad nose/nasal bridge
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • large face
  • scoliosis
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • kyphosis
  • hyperhidrosis/increased sweating
  • high vaulted/narrow palate
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • autosomal recessive inheritance

Drugs & Therapeutics for Crisponi Syndrome

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Crisponi Syndrome

Search NIH Clinical Center for Crisponi Syndrome

Genetic Tests for Crisponi Syndrome

About this section

Anatomical Context for Crisponi Syndrome

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Crisponi Syndrome:

33
Lung

Animal Models for Crisponi Syndrome or affiliated genes

About this section

Publications for Crisponi Syndrome

About this section
Sources:
52PubMed
See all sources

Articles related to Crisponi Syndrome:

(show all 14)
idTitleAuthorsYear
1
Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome. (24008591)
2013
2
Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome. (24032286)
2013
3
Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome. (22381110)
2012
4
Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome. (23181498)
2012
5
Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome. (21691203)
2011
6
Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. (20187881)
2010
7
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. (20186812)
2010
8
Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus. (18837055)
2008
9
Crisponi syndrome: a new case with additional features and new mutation in CRLF1. (19012339)
2008
10
Central apneas in a case of Crisponi syndrome. (17921063)
2008
11
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. (17436252)
2007
12
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome. (15637710)
2005
13
Crisponi syndrome: report of a further patient. (14598344)
2003
14
Cold-Induced Sweating Syndrome including Crisponi Syndrome (21370513)
1993

Variations for Crisponi Syndrome

About this section

Expression for genes affiliated with Crisponi Syndrome

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Crisponi Syndrome

Search GEO for disease gene expression data for Crisponi Syndrome.

Pathways for genes affiliated with Crisponi Syndrome

About this section
Sources:
50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 30KEGG, 55Reactome
See all sources

Pathways related to Crisponi Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.1CRLF1, CLCF1

Compounds for genes affiliated with Crisponi Syndrome

About this section

GO Terms for genes affiliated with Crisponi Syndrome

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Crisponi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1CRLF-CLCF1 complexGO:0970589.1CRLF1, CLCF1

Biological processes related to Crisponi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell proliferationGO:0082849.1CRLF1, CLCF1
2positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.0CRLF1, CLCF1
3negative regulation of neuron apoptotic processGO:0435248.8CRLF1, CLCF1

Molecular functions related to Crisponi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.1CRLF1, CLCF1
2ciliary neurotrophic factor receptor bindingGO:0051279.0CRLF1, CLCF1
3cytokine activityGO:0051258.8CRLF1, CLCF1

Products for genes affiliated with Crisponi Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Crisponi Syndrome

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet