MCID: CRS006
MIFTS: 32

Crisponi Syndrome malady

Rare diseases, Neuronal diseases categories
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Summaries for Crisponi Syndrome

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

MalaCards based summary: 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 large face, broad cheeks/cherub-like/cherubin face and broad nose/nasal bridge. 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:46 601378

Aliases & Classifications for Crisponi Syndrome

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Crisponi Syndrome, Aliases & Descriptions:

Name: Crisponi Syndrome 42 44 48 46 62
 
Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
crisponi syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

MESH via Orphanet35 C536214
ICD10 via Orphanet26 G90.8
UMLS via Orphanet63 C1832409
OMIM46 601378

Related Diseases for Crisponi Syndrome

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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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Clinical features from OMIM:

601378

Symptoms:

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

HPO human phenotypes related to Crisponi Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 full cheeks hallmark (90%) HP:0000293
2 long philtrum hallmark (90%) HP:0000343
3 anteverted nares hallmark (90%) HP:0000463
4 hypohidrosis hallmark (90%) HP:0000966
5 hyperhidrosis hallmark (90%) HP:0000975
6 hypertonia hallmark (90%) HP:0001276
7 sudden cardiac death hallmark (90%) HP:0001645
8 malignant hyperthermia hallmark (90%) HP:0002047
9 respiratory insufficiency hallmark (90%) HP:0002093
10 scoliosis hallmark (90%) HP:0002650
11 kyphosis hallmark (90%) HP:0002808
12 camptodactyly of finger hallmark (90%) HP:0100490
13 large face hallmark (90%) HP:0100729
14 abnormality of the palate typical (50%) HP:0000174
15 limitation of joint mobility typical (50%) HP:0001376
16 cognitive impairment typical (50%) HP:0100543
17 narrow mouth occasional (7.5%) HP:0000160
18 micrognathia occasional (7.5%) HP:0000347
19 seizures occasional (7.5%) HP:0001250

Drugs & Therapeutics for Crisponi Syndrome

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Drug clinical trials:

Search ClinicalTrials for Crisponi Syndrome

Search NIH Clinical Center for Crisponi Syndrome

Genetic Tests for Crisponi Syndrome

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Anatomical Context for Crisponi Syndrome

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MalaCards organs/tissues related to Crisponi Syndrome:

32
Lung

Animal Models for Crisponi Syndrome or affiliated genes

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Publications for Crisponi Syndrome

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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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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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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 events37
ErbB2/ErbB3 signaling events37
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

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GO Terms for genes affiliated with Crisponi Syndrome

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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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Sources for Crisponi Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet