MCID: CRN054
MIFTS: 14

Carnevale Syndrome malady

Rare diseases, Eye diseases, Bone diseases categories

Aliases & Classifications for Carnevale Syndrome

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Aliases & Descriptions for Carnevale Syndrome:

Name: Carnevale Syndrome 45 65
Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia 45
Carnevale Krajewska Fischetto Syndrome 45
 
Oculo-Skeletal-Abdominal Syndrome 45
Osa Syndrome 45


Classifications:



External Ids:

ICD1027 H02.4

Summaries for Carnevale Syndrome

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MalaCards based summary: Carnevale Syndrome, also known as ptosis of eyelids with diastasis recti and hip dysplasia, is related to 3mc syndrome 2 and 3mc syndrome. An important gene associated with Carnevale Syndrome is COLEC11 (Collectin Sub-Family Member 11). Affiliated tissues include eye and bone.

Related Diseases for Carnevale Syndrome

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Diseases related to Carnevale Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
13mc syndrome 210.3
23mc syndrome10.3
3alopecia-mental retardation syndrome 110.1
4ptosis10.1
5alopecia-intellectual disability syndrome10.1
6michels syndrome10.1

Graphical network of diseases related to Carnevale Syndrome:



Diseases related to carnevale syndrome

Symptoms for Carnevale Syndrome

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Drugs & Therapeutics for Carnevale Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Role of Obstructive Sleep Apnea in Stroke AppearanceCompletedNCT00613522
2Dissection of Differentially Expressed Genes and Pathways in Patients With OSAS Before and After CPAP TreatmentCompletedNCT00498732
3Effects of Inspiratory Muscles Strengthening Among Coronary Patients on the Sleep Apnea Obstructive SyndromeRecruitingNCT02494648
4Effects of CPAP on Diet, Physical Activity, and Cardiovascular RiskRecruitingNCT01944020

Search NIH Clinical Center for Carnevale Syndrome

Genetic Tests for Carnevale Syndrome

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Anatomical Context for Carnevale Syndrome

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MalaCards organs/tissues related to Carnevale Syndrome:

33
Eye, Bone

Animal Models for Carnevale Syndrome or affiliated genes

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Publications for Carnevale Syndrome

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Articles related to Carnevale Syndrome:

idTitleAuthorsYear
1
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? (17236195)
2007
2
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? (16096999)
2005

Variations for Carnevale Syndrome

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Clinvar genetic disease variations for Carnevale Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COLEC11NM_024027.4(COLEC11): c.505T> C (p.Ser169Pro)single nucleotide variantPathogenicrs387907075GRCh37Chr 2, 3691397: 3691397
2COLEC11COLEC11, 1-BP DEL, 45CdeletionPathogenic
3COLEC11NM_024027.4(COLEC11): c.610G> A (p.Gly204Ser)single nucleotide variantPathogenicrs387907076GRCh37Chr 2, 3691502: 3691502
4COLEC11COLEC11, 3-BP DEL, 648CTCdeletionPathogenic
5COLEC11COLEC11, 1-BP DEL, 300TdeletionPathogenic
6COLEC11COLEC11, EX1-3DELdeletionPathogenic

Expression for genes affiliated with Carnevale Syndrome

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Search GEO for disease gene expression data for Carnevale Syndrome.

Pathways for genes affiliated with Carnevale Syndrome

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GO Terms for genes affiliated with Carnevale Syndrome

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Sources for Carnevale Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet