MCID: CRN054
MIFTS: 10

Carnevale Syndrome malady

Eye diseases, Bone diseases categories

Summaries for Carnevale Syndrome

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32MalaCards
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MalaCards: Carnevale Syndrome, also known as ptosis of eyelids with diastasis recti and hip dysplasia, is related to alopecia-intellectual deficit syndrome and 3mc syndrome 2. Affiliated tissues include eye.

Aliases & Classifications for Carnevale Syndrome

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Sources:
42NIH Rare Diseases, 60UMLS, 25ICD10
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Classifications:

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


Aliases & Descriptions:

carnevale syndrome 42 60
ptosis of eyelids with diastasis recti and hip dysplasia 42
carnevale krajewska fischetto syndrome 42
oculo-skeletal-abdominal syndrome 42
osa syndrome 42


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
1alopecia-intellectual deficit syndrome10.2
23mc syndrome 210.1

Clinical Features for Carnevale Syndrome

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Drugs & Therapeutics for Carnevale Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Carnevale Syndrome

Drug clinical trials:

Search ClinicalTrials for Carnevale Syndrome

Search NIH Clinical Center for Carnevale Syndrome

Search CenterWatch for Carnevale Syndrome

Genetic Tests for Carnevale Syndrome

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Anatomical Context for Carnevale Syndrome

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Sources:
32MalaCards
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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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Genetic Variations for Carnevale Syndrome

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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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet