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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MalaCards based summary: Carnevale Syndrome, also known as carnevale krajewska fischetto syndrome, is related to 3mc syndrome 2 and alopecia-intellectual disability syndrome. Affiliated tissues include eye.

Aliases & Classifications for Carnevale Syndrome

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Carnevale Syndrome, Aliases & Descriptions:

Name: Carnevale Syndrome 42 62
Carnevale Krajewska Fischetto Syndrome 42 62
Oculo-Skeletal-Abdominal Syndrome 42 62
 
Ptosis of Eyelids with Diastasis Recti and Hip Dysplasia 42
Osa Syndrome 42


Classifications:

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


External Ids:

ICD1025 H02.4

Related Diseases for Carnevale Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
13mc syndrome 210.3
2alopecia-intellectual disability syndrome10.3
3michels syndrome10.1

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:

32
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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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

Sources for Carnevale 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet