MCID: CRS006
MIFTS: 29

Crisponi Syndrome malady

Neuronal, Fetal categories

Summaries for Crisponi Syndrome

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 n syndrome, 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. The compound chloride have been mentioned in the context of this disorder.

Description from OMIM:47 601378

Aliases & Classifications for Crisponi Syndrome

Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

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


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 61
muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death 43


External Ids:

OMIM47 601378
MESH via Orphanet36 C536214
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C1832409

Related Diseases for Crisponi Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Crisponi Syndrome:



Diseases related to crisponi syndrome

Clinical Features for Crisponi Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

601378

Symptoms:

49 (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

Drugs & Therapeutics for Crisponi Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Crisponi Syndrome

Animal Models for Crisponi Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Crisponi Syndrome

Sources:
51PubMed
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Articles related to Crisponi Syndrome:

(show all 15)
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
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. (17436251)
2007
13
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome. (15637710)
2005
14
Crisponi syndrome: report of a further patient. (14598344)
2003
15
Cold-Induced Sweating Syndrome including Crisponi Syndrome (21370513)
1993

Genetic Variations for Crisponi Syndrome

Expression for genes affiliated with Crisponi Syndrome

Sources:
1BioGPS, 15Gene 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

Sources:
12EMD Millipore
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Pathways related to Crisponi Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Translation Insulin regulation of translation
Hide members
9.3CLCF1, CRLF1

Compounds for genes affiliated with Crisponi Syndrome

Sources:
45Novoseek
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Compounds related to Crisponi Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chloride459.3CLCF1, CLC

GO Terms for genes affiliated with Crisponi Syndrome

Sources:
16Gene Ontology
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Cellular components related to Crisponi Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1CRLF-CLCF1 complexGO:0970589.3CLCF1, CRLF1

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell proliferationGO:0082849.3CLCF1, CRLF1
2positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.2CLCF1, CRLF1
3negative regulation of neuron apoptotic processGO:0435249.0CLCF1, CRLF1

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

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.3CLCF1, CRLF1
2ciliary neurotrophic factor receptor bindingGO:0051279.2CLCF1, CRLF1
3cytokine activityGO:0051259.0CLCF1, CRLF1

Products for genes affiliated with Crisponi Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Crisponi Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet