MCID: CRP022
MIFTS: 13

Carpenter Syndrome 2 malady

Genetic diseases, Immune diseases, Rare diseases, Bone diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Carpenter Syndrome 2

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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

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Sources:
47OMIM, 62UMLS
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Classifications:



Aliases & Descriptions:

carpenter syndrome 2 47
addison's disease, struma lymphomatosa and insulin-dependent diabetes mellitus 62


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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47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Carpenter Syndrome 2

Search NIH Clinical Center 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:
33MalaCards
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MalaCards organs/tissues related to Carpenter Syndrome 2:

33
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:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Carpenter Syndrome 2:

64
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, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Carpenter Syndrome 2

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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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet