MCID: CRP022
MIFTS: 13

Carpenter Syndrome 2 malady

Genetic diseases, Immune diseases, Rare diseases, Bone diseases, Endocrine diseases, Fetal diseases categories

Summaries for Carpenter Syndrome 2

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Sources:
48OMIM, 34MalaCards
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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:48 614976

Aliases & Classifications for Carpenter Syndrome 2

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Sources:
48OMIM, 63UMLS
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Classifications:



Aliases & Descriptions:

carpenter syndrome 2 48
addison's disease, struma lymphomatosa and insulin-dependent diabetes mellitus 63


Related Diseases for Carpenter Syndrome 2

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Diseases in the Carpenter Syndrome family:

Say Carpenter Syndrome Carpenter Syndrome 1
carpenter syndrome 2

Symptoms for Carpenter Syndrome 2

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

614976

Clinical features from OMIM:

614976

Drugs & Therapeutics for Carpenter Syndrome 2

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Anatomical Context for Carpenter Syndrome 2

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Sources:
34MalaCards
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MalaCards organs/tissues related to Carpenter Syndrome 2:

34
Heart

Animal Models for Carpenter Syndrome 2 or affiliated genes

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Publications for Carpenter Syndrome 2

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Variations for Carpenter Syndrome 2

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Carpenter Syndrome 2:

65
id Symbol AA change Variation ID SNP ID
1MEGF8p.Gly199ArgVAR_069305
2MEGF8p.Arg1566HisVAR_069306
3MEGF8p.Ser2434GlyVAR_069307

Clinvar genetic disease variations for Carpenter Syndrome 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1MEGF8NM_001410.2(MEGF8): c.4496G> A (p.Arg1499His)single nucleotide variantPathogenicrs397515427GRCh37Chr 19, 42861000: 42861000
2MEGF8NM_001410.2(MEGF8): c.7099A> G (p.Ser2367Gly)single nucleotide variantPathogenicrs397515428GRCh37Chr 19, 42879689: 42879689
3MEGF8NM_001410.2(MEGF8): c.1342C> T (p.Arg448Ter)single nucleotide variantPathogenicrs397514621GRCh37Chr 19, 42841056: 42841056
4MEGF8MEGF8, GLY199ARGsingle nucleotide variantPathogenic

Expression for genes affiliated with Carpenter Syndrome 2

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Sources:
2BioGPS, 16Gene 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

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Compounds for genes affiliated with Carpenter Syndrome 2

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GO Terms for genes affiliated with Carpenter Syndrome 2

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Products for genes affiliated with Carpenter Syndrome 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Carpenter Syndrome 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet