MCID: CRN054
MIFTS: 13

Carnevale Syndrome malady

Rare diseases, Eye diseases, Bone diseases categories
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Summaries for Carnevale Syndrome

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33MalaCards
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MalaCards: Carnevale Syndrome, also known as ptosis of eyelids with diastasis recti and hip dysplasia, is related to michels syndrome and 3mc syndrome 2. Affiliated tissues include eye.

Aliases & Classifications for Carnevale Syndrome

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Sources:
43NIH Rare Diseases, 62UMLS, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases, Bone diseases


Aliases & Descriptions:

carnevale syndrome 43 62
ptosis of eyelids with diastasis recti and hip dysplasia 43
carnevale krajewska fischetto syndrome 43
oculo-skeletal-abdominal syndrome 43
osa syndrome 43


External Ids:

ICD1025 H02.4

Related Diseases for Carnevale Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Carnevale Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1michels syndrome10.1
23mc syndrome 210.1
3alopecia-intellectual disability syndrome10.1

Symptoms for Carnevale Syndrome

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Drugs & Therapeutics for Carnevale Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Carnevale Syndrome

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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33MalaCards
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MalaCards organs/tissues related to Carnevale Syndrome:

33
Eye

Animal Models for Carnevale Syndrome or affiliated genes

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Publications for Carnevale Syndrome

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52PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Carnevale Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1COLEC11NM_024027.4(COLEC11): c.505T> C (p.Ser169Pro)single nucleotide variantPathogenicrs387907075GRCh37Chr 2, 3691397: 3691397
2COLEC11NM_024027.4(COLEC11): c.610G> A (p.Gly204Ser)single nucleotide variantPathogenicrs387907076GRCh37Chr 2, 3691502: 3691502

Expression for genes affiliated with Carnevale Syndrome

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Sources:
15Gene Expression Omnibus DataSets
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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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Compounds for genes affiliated with Carnevale Syndrome

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GO Terms for genes affiliated with Carnevale Syndrome

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Products for genes affiliated with Carnevale Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Carnevale Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet