MCID: CRN054

Carnevale Syndrome malady

Eye, Bone categories

Summaries for Carnevale Syndrome

Sources:
33MalaCards
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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 michels syndrome.

Aliases & Classifications for Carnevale Syndrome

Sources:
43NIH Rare Diseases, 61UMLS, 25ICD10
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Classifications:

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


Aliases & Descriptions:

carnevale syndrome 43 61
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

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
2michels syndrome10.1
33mc syndrome 210.1

Clinical Features for Carnevale Syndrome

Drugs & Therapeutics for Carnevale Syndrome

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Carnevale Syndrome

Animal Models for Carnevale Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Carnevale Syndrome

Sources:
51PubMed
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Articles related to Carnevale Syndrome:

idTitleAuthorsYear
1
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. (21035106)
2010
2
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? (17236195)
2007
3
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? (16096999)
2005

Genetic Variations for Carnevale Syndrome

Expression for genes affiliated with Carnevale Syndrome

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

Compounds for genes affiliated with Carnevale Syndrome

GO Terms for genes affiliated with Carnevale Syndrome

Products for genes affiliated with Carnevale Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Carnevale Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet