MCID: CRP007
MIFTS: 32

Carpenter Syndrome malady

Bone diseases, Endocrine diseases, Fetal diseases, Immune diseases categories

Summaries for Carpenter Syndrome

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems.

MalaCards: Carpenter Syndrome, also known as acrocephalopolysyndactyly type 2, is related to proud levine carpenter syndrome and cole carpenter syndrome. An important gene associated with Carpenter Syndrome is RAB23 (RAB23, member RAS oncogene family). Affiliated tissues include bone and heart, and related mouse phenotype limbs/digits/tail.

Wikipedia:63 Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal... more...

Description from OMIM:46 201000,614976

Aliases & Classifications for Carpenter Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases, Endocrine diseases, Immune diseases


Characteristics (Orphanet epidemiological data):

48
carpenter syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

carpenter syndrome 42 22 21 46 48
acrocephalopolysyndactyly type 2 42 48
acps 2 42 48
addison's disease, struma lymphomatosa and insulin-dependent diabetes mellitus 60
acrocephalopolysyndactyly type ii 21
acrocephalosyndactyly, type ii 21
type ii acrocephalosyndactyly 21
acrocephalopolysyndactyly 2 21
acps ii 21


External Ids:

ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet57 205813009, 403767009
UMLS via Orphanet61 C1275078

Related Diseases for Carpenter Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Carpenter Syndrome family:

Say Carpenter Syndrome Carpenter Syndrome 1
Carpenter Syndrome 2

Diseases related to Carpenter Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1proud levine carpenter syndrome10.5
2cole carpenter syndrome10.4
3say carpenter syndrome10.3
4carpenter syndrome 210.3
5carpenter syndrome 110.2
6miles-carpenter syndrome10.2
7cerebritis10.0
8tetralogy of fallot10.0
9obesity10.0
10craniosynostosis 410.0
11dextrocardia10.0RAB23, MEGF8

Graphical network of diseases related to Carpenter Syndrome:



Diseases related to carpenter syndrome

Clinical Features for Carpenter Syndrome

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46OMIM
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Clinical features from OMIM:

201000,614976

Clinical synopsis from OMIM:

201000

Drugs & Therapeutics for Carpenter Syndrome

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

Search CenterWatch for Carpenter Syndrome

Drug clinical trials:

Search ClinicalTrials for Carpenter Syndrome

Search NIH Clinical Center for Carpenter Syndrome

Search CenterWatch for Carpenter Syndrome

Genetic Tests for Carpenter Syndrome

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22GTR
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Genetic tests related to Carpenter Syndrome:

id Genetic test Affiliating Genes
1 Carpenter Syndrome22

Anatomical Context for Carpenter Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Carpenter Syndrome:

32
Bone, Heart

Animal Models for Carpenter Syndrome or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Carpenter Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0RAB23, MEGF8

Publications for Carpenter Syndrome

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Genetic Variations for Carpenter Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Carpenter Syndrome:

62
id Symbol AA change Variation ID SNP ID
1RAB23p.Cys85ArgVAR_034902
2RAB23p.Met12LysVAR_065294

Expression for genes affiliated with Carpenter Syndrome

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

Search GEO for disease gene expression data for Carpenter Syndrome.

Pathways for genes affiliated with Carpenter Syndrome

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Compounds for genes affiliated with Carpenter Syndrome

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GO Terms for genes affiliated with Carpenter Syndrome

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Products for genes affiliated with Carpenter Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Carpenter 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