MCID: CRS006
MIFTS: 32

Crisponi Syndrome malady

Rare diseases, Neuronal diseases, Fetal diseases categories

Summaries for Crisponi Syndrome

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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:48 601378

Aliases & Classifications for Crisponi Syndrome

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44NIH Rare Diseases, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 37MESH via Orphanet, 64UMLS via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
crisponi syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

crisponi syndrome 44 46 50 48 63
muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death 44


External Ids:

OMIM48 601378
MESH via Orphanet37 C536214
UMLS via Orphanet64 C1832409
ICD10 via Orphanet27 G90.8

Related Diseases for Crisponi Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Crisponi Syndrome:



Diseases related to crisponi syndrome

Symptoms for Crisponi Syndrome

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48OMIM, 50Orphanet
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Clinical features from OMIM:

601378

Symptoms:

50 (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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Crisponi Syndrome

Drug clinical trials:

Search ClinicalTrials for Crisponi Syndrome

Search NIH Clinical Center for Crisponi Syndrome

Search CenterWatch for Crisponi Syndrome

Genetic Tests for Crisponi Syndrome

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Anatomical Context for Crisponi Syndrome

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34MalaCards
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MalaCards organs/tissues related to Crisponi Syndrome:

34
Lung

Animal Models for Crisponi Syndrome or affiliated genes

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Publications for Crisponi Syndrome

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53PubMed
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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

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Expression for genes affiliated with Crisponi Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 56Reactome
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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 regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
9.1CRLF1, CLCF1

Compounds for genes affiliated with Crisponi Syndrome

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GO Terms for genes affiliated with Crisponi Syndrome

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17Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Crisponi Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet