MCID: CRS006
MIFTS: 28

Crisponi Syndrome malady

Neuronal diseases, Fetal diseases categories

Summaries for Crisponi Syndrome

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 including crisponi syndrome, and has symptoms including autosomal recessive inheritance, failure to thrive/difficulties for feeding in infancy/growth delay and death in infancy. 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. Affiliated tissues include lung.

Description from OMIM:46 601378

Aliases & Classifications for Crisponi Syndrome

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42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 61UMLS via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

crisponi syndrome 42 44 48 46 60
muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death 42


External Ids:

OMIM46 601378
MESH via Orphanet35 C536214
UMLS via Orphanet61 C1832409
ICD10 via Orphanet26 G90.8

Related Diseases for Crisponi Syndrome

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



Diseases related to crisponi syndrome

Clinical Features for Crisponi Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

601378

Symptoms:

48 (show all 24)
  • 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
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • hypertonia/spasticity/rigidity/stiffness
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • 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
  • large face

Drugs & Therapeutics for Crisponi Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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32MalaCards
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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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Genetic Variations for Crisponi Syndrome

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Expression for genes affiliated with Crisponi Syndrome

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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

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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
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9.3CLCF1, CRLF1

Compounds for genes affiliated with Crisponi Syndrome

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44Novoseek
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Compounds related to Crisponi Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chloride449.3CLCF1, CLC

GO Terms for genes affiliated with Crisponi Syndrome

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet