MCID: CRP022

Carpenter Syndrome 2 malady

Immune category

Summaries for Carpenter Syndrome 2

Sources:
47OMIM, 33MalaCards
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MalaCards: Carpenter Syndrome 2, is also known as addison's disease, struma lymphomatosa and insulin-dependent diabetes mellitus An important gene associated with Carpenter Syndrome 2 is MEGF8 (multiple EGF-like-domains 8). Affiliated tissues include heart.

Description from OMIM:47 614976

Aliases & Classifications for Carpenter Syndrome 2

Sources:
47OMIM, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Immune


Aliases & Descriptions:

carpenter syndrome 2 47
addison's disease, struma lymphomatosa and insulin-dependent diabetes mellitus 61


Related Diseases for Carpenter Syndrome 2

Diseases in the carpenter syndrome family:

say carpenter syndrome carpenter syndrome 1
carpenter syndrome 2

Clinical Features for Carpenter Syndrome 2

Sources:
47OMIM
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Clinical features from OMIM:

614976

Clinical synopsis from OMIM:

614976

Drugs & Therapeutics for Carpenter Syndrome 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Carpenter Syndrome 2

Drug clinical trials:

Search ClinicalTrials for Carpenter Syndrome 2

Search NIH Clinical Center for Carpenter Syndrome 2

Search CenterWatch for Carpenter Syndrome 2

Genetic Tests for Carpenter Syndrome 2

Anatomical Context for Carpenter Syndrome 2

Sources:
33MalaCards
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MalaCards organs/tissues related to Carpenter Syndrome 2:

33
Heart

Animal Models for Carpenter Syndrome 2 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Carpenter Syndrome 2

Genetic Variations for Carpenter Syndrome 2

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Carpenter Syndrome 2:

63
id Symbol AA change Variation SNP ID
1MEGF8p.Gly199ArgVAR_069305
2MEGF8p.Arg1566HisVAR_069306
3MEGF8p.Ser2434GlyVAR_069307

Expression for genes affiliated with Carpenter Syndrome 2

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Carpenter Syndrome 2

Search GEO for disease gene expression data for Carpenter Syndrome 2.

Pathways for genes affiliated with Carpenter Syndrome 2

Compounds for genes affiliated with Carpenter Syndrome 2

GO Terms for genes affiliated with Carpenter Syndrome 2

Products for genes affiliated with Carpenter Syndrome 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Carpenter Syndrome 2

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