MCID: CRP007
MIFTS: 39

Carpenter Syndrome malady

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

Summaries for Carpenter Syndrome

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal... more...

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 heart and bone, and related mouse phenotypes are nervous system and limbs/digits/tail.

Description from OMIM:48 201000,614976

Aliases & Classifications for Carpenter Syndrome

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Sources:
44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
carpenter syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

carpenter syndrome 44 23 22 48 50
acrocephalopolysyndactyly type 2 44 50
acps 2 44 50
addison's disease, struma lymphomatosa and insulin-dependent diabetes mellitus 63
acrocephalopolysyndactyly type ii 22
acrocephalosyndactyly, type ii 22
type ii acrocephalosyndactyly 22
acrocephalopolysyndactyly 2 22
acps ii 22


External Ids:

ICD10 via Orphanet27 Q87.0
SNOMED-CT via Orphanet60 205813009, 403767009
UMLS via Orphanet64 C1275078

Related Diseases for Carpenter Syndrome

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18GeneCards, 19GeneDecks
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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 13)
idRelated DiseaseScoreTop Affiliating Genes
1proud levine carpenter syndrome10.5
2cole carpenter syndrome10.5
3say carpenter syndrome10.4
4carpenter syndrome 210.3
5miles-carpenter syndrome10.3
6carpenter syndrome 110.2
7tetralogy of fallot10.1
8cerebritis10.1
9obesity10.1
10goodman syndrome10.1
11summitt syndrome10.1
12craniosynostosis 410.1
13dextrocardia10.0RAB23, MEGF8

Graphical network of diseases related to Carpenter Syndrome:



Diseases related to carpenter syndrome

Symptoms for Carpenter Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

201000

Clinical features from OMIM:

201000,614976

Drugs & Therapeutics for Carpenter Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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23GTR
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Genetic tests related to Carpenter Syndrome:

id Genetic test Affiliating Genes
1 Carpenter Syndrome23

Anatomical Context for Carpenter Syndrome

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34MalaCards
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MalaCards organs/tissues related to Carpenter Syndrome:

34
Heart, Bone

Animal Models for Carpenter Syndrome or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Carpenter Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.1RAB23, MEGF8
2MP:00053719.0RAB23, MEGF8
3MP:00053808.8RAB23, MEGF8

Publications for Carpenter Syndrome

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53PubMed
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Articles related to Carpenter Syndrome:

(show all 31)
idTitleAuthorsYear
1
A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family. (23599695)
2013
2
Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. (23706836)
2013
3
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. (23063620)
2012
4
Carpenter syndrome: a case report. (22828559)
2012
5
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. (21412941)
2011
6
RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. (20358613)
2010
7
Sudden death in a child with Carpenter Syndrome. Case report and literature review. (19924577)
2009
8
Carpenter syndrome. (19165041)
2009
9
Anesthetic implications of Carpenter syndrome (Acrocephalopolysyndactyly type II). (19076584)
2008
10
Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings. (18317146)
2008
11
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. (17503333)
2007
12
The carpenter syndrome phenotype. (15129947)
2004
13
Oral findings in Carpenter syndrome. (11572266)
2001
14
New case of Cole-Carpenter syndrome. (10842295)
2000
15
Refined gene localization for the Miles-Carpenter syndrome (MCS) (10398232)
1999
16
Carpenter syndrome: report of two siblings. (9689991)
1998
17
A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination. (9237506)
1997
18
Transabdominal embryoscopy for the detection of Carpenter syndrome during the first trimester. (7795371)
1994
19
Prenatal sonographic diagnosis of Carpenter syndrome. (7837341)
1994
20
Cerebral malformations in Carpenter syndrome. (8352858)
1993
21
Carpenter syndrome with normal intelligence: Brazilian girl born to consanguineous parents. (8213921)
1993
22
Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome? (1642806)
1992
23
Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syndromes. (2309763)
1990
24
Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. (3322002)
1987
25
Carpenter syndrome: natural history and clinical spectrum. (3993675)
1985
26
Metacarpophalangeal pattern profile in ACPS type II (Carpenter syndrome). (7119093)
1982
27
Carpenter syndrome with normal intelligence and precocious growth. (7270272)
1981
28
Carpenter syndrome (ACPS-II). (6260733)
1980
29
Normal intelligence in two children with Carpenter syndrome. (263437)
1978
30
Carpenter syndrome--acrocephalopolysyndactyly type II. (4370930)
1974
31
Acrocephalopolysyndactyly, type II (Carpenter syndrome). (5085485)
1972

Variations for Carpenter Syndrome

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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:

65
id Symbol AA change Variation ID SNP ID
1RAB23p.Cys85ArgVAR_034902
2RAB23p.Met12LysVAR_065294

Clinvar genetic disease variations for Carpenter Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1RAB23RAB23, 1-BP DUP, 86AduplicationPathogenic
2RAB23NM_016277.4(RAB23): c.434T> A (p.Leu145Ter)single nucleotide variantPathogenicrs121908171GRCh37Chr 6, 57059615: 57059615
3RAB23RAB23, 1-BP INS, 408TinsertionPathogenic

Expression for genes affiliated with Carpenter Syndrome

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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

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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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17Gene Ontology
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Biological processes related to Carpenter Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1craniofacial suture morphogenesisGO:0970949.1RAB23, MEGF8

Products for genes affiliated with Carpenter Syndrome

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Sources for Carpenter Syndrome

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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