MCID: CRN054
MIFTS: 20

Carnevale Syndrome malady

Categories: Rare diseases, Eye diseases, Bone diseases, Nephrological diseases

Aliases & Classifications for Carnevale Syndrome

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Aliases & Descriptions for Carnevale Syndrome:

Name: Carnevale Syndrome 46 24 25 66
Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia 46 24
Oculo-Skeletal-Abdominal Syndrome 46 24
Osa Syndrome 46 24
3mc Syndrome 46 24
Ptosis-Strabismus-Rectus Addominis Diastasis 24
Carnevale Krajewska Fischetto Syndrome 46
Carnevale-Krajewska-Fischetto Syndrome 24
 
Craniosynostosis with Lid Anomalies 24
Malpuech Facial Clefting Syndrome 24
Craniofacial-Ulnar-Renal Syndrome 24
Oculopalatoskeletal Syndrome 24
Mingarelli Syndrome 24
Malpuech Syndrome 24
Michels Syndrome 24

Classifications:



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ICD1028 H02.4

Summaries for Carnevale Syndrome

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Genetics Home Reference:24 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs of the body.

MalaCards based summary: Carnevale Syndrome, also known as ptosis of eyelids with diastasis recti and hip dysplasia, is related to malpuech facial clefting syndrome and 3mc syndrome 1, and has symptoms including torticollis and torticollis. Affiliated tissues include eye.

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
1malpuech facial clefting syndrome12.5
23mc syndrome 111.2
33mc syndrome 211.0
4alopecia-intellectual disability syndrome11.0
5ptosis9.9
6michels syndrome9.9

Graphical network of diseases related to Carnevale Syndrome:



Diseases related to carnevale syndrome

Symptoms for Carnevale Syndrome

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UMLS symptoms related to Carnevale Syndrome:


torticollis

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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Genetic tests related to Carnevale Syndrome:

id Genetic test Affiliating Genes
1 Carnevale Syndrome25

Anatomical Context for Carnevale Syndrome

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MalaCards organs/tissues related to Carnevale Syndrome:

34
Eye

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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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet