MCID: CRN054
MIFTS: 13

Carnevale Syndrome malady

Rare diseases, Eye diseases, Bone diseases categories

Aliases & Classifications for Carnevale Syndrome

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Carnevale Syndrome, Aliases & Descriptions:

Name: Carnevale Syndrome 41 60
Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia 41
Carnevale Krajewska Fischetto Syndrome 41
 
Oculo-Skeletal-Abdominal Syndrome 41
Osa Syndrome 41


Classifications:

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


External Ids:

ICD1025 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 alopecia-mental retardation syndrome 1 and 3mc syndrome. An important gene associated with Carnevale Syndrome is COLEC11 (collectin sub-family member 11). 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
1alopecia-mental retardation syndrome 110.3
23mc syndrome10.3
33mc syndrome 210.1
4ptosis10.1
5michels 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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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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MalaCards organs/tissues related to Carnevale Syndrome:

31
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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Clinvar genetic disease variations for Carnevale Syndrome:

6
id Gene Variation 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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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
  • Proteins
  • Kits and Assays

Sources for Carnevale Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet