MCID: CRP007
MIFTS: 41

Carpenter Syndrome malady

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

Summaries for Carpenter Syndrome

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NIH Rare Diseases:41 Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. the features in affected people vary. craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. carpenter syndrome can be caused by mutations in the rab23 or megf8 gene and is inherited in an autosomal recessive manner. treatment focuses on the specific features in each affected person. life expectancy is shortened but very variable. last updated: 2/5/2015

MalaCards based summary: Carpenter Syndrome, also known as acrocephalopolysyndactyly type ii, is related to cole carpenter syndrome and proud levine carpenter syndrome, and has symptoms including autosomal recessive inheritance, cryptorchidism and hydroureter. An important gene associated with Carpenter Syndrome is RAB23 (RAB23, member RAS oncogene family). Affiliated tissues include bone, heart and brain, and related mouse phenotypes are nervous system and limbs/digits/tail.

Disease Ontology:9 An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.

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.

OMIM:45 Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable... (201000) more...

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

Aliases & Classifications for Carpenter Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Carpenter Syndrome, Aliases & Descriptions:

Name: Carpenter Syndrome 45 9 10 41 21 47 22
Acrocephalopolysyndactyly Type Ii 9 21
Acrocephalopolysyndactyly Type 2 41 47
Acrocephalosyndactyly, Type Ii 41 21
Carpenter Syndrome 1 41 20
Acps 2 41 47
Addison's Disease, Struma Lymphomatosa and Insulin-Dependent Diabetes Mellitus 60
 
Autoimmune Syndrome Type Ii, Polyglandular 60
Type Ii Acrocephalosyndactyly 21
Acrocephalopolysyndactyly 2 21
Apert-Crouzon Disease 60
Carpenter Syndrome-1 60
Acps Ii 21
Crpt1 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
carpenter syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 201000
Disease Ontology9 DOID:0060234
MeSH33 C563187
Orphanet47 65759
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet61 C1275078

Related Diseases for Carpenter Syndrome

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Diseases in the Carpenter Syndrome family:

Carpenter Syndrome 2 Say Carpenter Syndrome

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1cole carpenter syndrome10.6
2proud levine carpenter syndrome10.6
3carpenter syndrome 210.5
4say carpenter syndrome10.4
5tetralogy of fallot10.1
6obesity10.1
7craniosynostosis10.1
8cerebritis10.1
9goodman syndrome10.1
10summitt syndrome10.1
11polysyndactyly10.1
12dextrocardia9.9RAB23, MEGF8

Graphical network of diseases related to Carpenter Syndrome:



Diseases related to carpenter syndrome

Symptoms for Carpenter Syndrome

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Symptoms by clinical synopsis from OMIM:

201000

Clinical features from OMIM:

201000

HPO human phenotypes related to Carpenter Syndrome:

(show all 67)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cryptorchidism HP:0000028
3 hydroureter HP:0000072
4 hydronephrosis HP:0000126
5 high palate HP:0000218
6 brachycephaly HP:0000248
7 malar flattening HP:0000272
8 epicanthus HP:0000286
9 hypoplasia of the maxilla HP:0000327
10 micrognathia HP:0000347
11 low-set ears HP:0000369
12 abnormality of the pinna HP:0000377
13 conductive hearing impairment HP:0000405
14 sensorineural hearing impairment HP:0000407
15 short neck HP:0000470
16 microcornea HP:0000482
17 telecanthus HP:0000506
18 optic atrophy HP:0000648
19 precocious puberty HP:0000826
20 sacral dimple HP:0000960
21 brachydactyly syndrome HP:0001156
22 postaxial hand polydactyly HP:0001162
23 intellectual disability HP:0001249
24 obesity HP:0001513
25 umbilical hernia HP:0001537
26 omphalocele HP:0001539
27 ventricular septal defect HP:0001629
28 defect in the atrial septum HP:0001631
29 tetralogy of fallot HP:0001636
30 pulmonic stenosis HP:0001642
31 patent ductus arteriosus HP:0001643
32 transposition of the great arteries HP:0001669
33 polysplenia HP:0001748
34 toe syndactyly HP:0001770
35 metatarsus adductus HP:0001840
36 preaxial foot polydactyly HP:0001841
37 cerebral atrophy HP:0002059
38 scoliosis HP:0002650
39 coxa valga HP:0002673
40 large foramen magnum HP:0002700
41 genu valgum HP:0002857
42 flared iliac wings HP:0002869
43 genu varum HP:0002970
44 shallow acetabular fossae HP:0003182
45 external genital hypoplasia HP:0003241
46 spina bifida occulta HP:0003298
47 clinodactyly of the 5th finger HP:0004209
48 short stature HP:0004322
49 coronal craniosynostosis HP:0004440
50 sagittal craniosynostosis HP:0004442
51 lambdoidal craniosynostosis HP:0004443
52 preauricular pit HP:0004467
53 depressed nasal bridge HP:0005280
54 persistence of primary teeth HP:0006335
55 agenesis of permanent teeth HP:0006349
56 lateral displacement of patellae HP:0006397
57 aplasia/hypoplasia of the corpus callosum HP:0007370
58 opacification of the corneal stroma HP:0007759
59 joint contracture of the hand HP:0009473
60 complete duplication of proximal phalanx of the thumb HP:0009608
61 aplasia/hypoplasia of the middle phalanges of the hand HP:0009843
62 underdeveloped supraorbital ridges HP:0009891
63 duplication of the proximal phalanx of the hallux HP:0010093
64 aplasia/hypoplasia of the middle phalanges of the toes HP:0010194
65 pseudoepiphyses of the proximal phalanges of the hand HP:0010275
66 midface retrusion HP:0011800
67 camptodactyly HP:0012385

Drugs & Therapeutics for Carpenter Syndrome

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Drug clinical trials:

Search ClinicalTrials for Carpenter Syndrome

Search NIH Clinical Center for Carpenter Syndrome

Genetic Tests for Carpenter Syndrome

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Genetic tests related to Carpenter Syndrome:

id Genetic test Affiliating Genes
1 Carpenter Syndrome 120 RAB23
2 Carpenter Syndrome22

Anatomical Context for Carpenter Syndrome

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MalaCards organs/tissues related to Carpenter Syndrome:

31
Bone, Heart, Brain

Animal Models for Carpenter Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Carpenter Syndrome:

35
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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Articles related to Carpenter Syndrome:

(show all 36)
idTitleAuthorsYear
1
CRTAP mutation in a patient with Cole-Carpenter syndrome. (25604815)
2015
2
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. (25683117)
2015
3
Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly. (24458945)
2014
4
Prenatal findings in carpenter syndrome and a novel mutation in RAB23. (25168863)
2014
5
Carpenter syndrome: a review for the craniofacial surgeon. (25162549)
2014
6
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
7
Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. (23706836)
2013
8
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. (23063620)
2012
9
Carpenter syndrome: a case report. (22828559)
2012
10
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. (21412941)
2011
11
RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. (20358613)
2010
12
Sudden death in a child with Carpenter Syndrome. Case report and literature review. (19924577)
2009
13
Carpenter syndrome. (19165041)
2009
14
Anesthetic implications of Carpenter syndrome (Acrocephalopolysyndactyly type II). (19076584)
2008
15
Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings. (18317146)
2008
16
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. (17503333)
2007
17
The carpenter syndrome phenotype. (15129947)
2004
18
Oral findings in Carpenter syndrome. (11572266)
2001
19
New case of Cole-Carpenter syndrome. (10842295)
2000
20
Refined gene localization for the Miles-Carpenter syndrome (MCS) (10398232)
1999
21
Carpenter syndrome: report of two siblings. (9689991)
1998
22
A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination. (9237506)
1997
23
Transabdominal embryoscopy for the detection of Carpenter syndrome during the first trimester. (7795371)
1994
24
Prenatal sonographic diagnosis of Carpenter syndrome. (7837341)
1994
25
Cerebral malformations in Carpenter syndrome. (8352858)
1993
26
Carpenter syndrome with normal intelligence: Brazilian girl born to consanguineous parents. (8213921)
1993
27
Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome? (1642806)
1992
28
Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syndromes. (2309763)
1990
29
Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. (3322002)
1987
30
Carpenter syndrome: natural history and clinical spectrum. (3993675)
1985
31
Metacarpophalangeal pattern profile in ACPS type II (Carpenter syndrome). (7119093)
1982
32
Carpenter syndrome with normal intelligence and precocious growth. (7270272)
1981
33
Carpenter syndrome (ACPS-II). (6260733)
1980
34
Normal intelligence in two children with Carpenter syndrome. (263437)
1978
35
Carpenter syndrome--acrocephalopolysyndactyly type II. (4370930)
1974
36
Acrocephalopolysyndactyly, type II (Carpenter syndrome). (5085485)
1972

Variations for Carpenter Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Carpenter Syndrome:

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

Clinvar genetic disease variations for Carpenter Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1RAB23RAB23, 1-BP DUP, 86AduplicationPathogenic
2MEGF8NM_001410.2(MEGF8): c.4496G> A (p.Arg1499His)single nucleotide variantPathogenicrs397515427GRCh37Chr 19, 42861000: 42861000
3MEGF8NM_001410.2(MEGF8): c.7099A> G (p.Ser2367Gly)single nucleotide variantPathogenicrs397515428GRCh37Chr 19, 42879689: 42879689
4MEGF8NM_001410.2(MEGF8): c.1342C> T (p.Arg448Ter)single nucleotide variantPathogenicrs397514621GRCh37Chr 19, 42841056: 42841056
5MEGF8MEGF8, GLY199ARGsingle nucleotide variantPathogenic
6RAB23NM_016277.4(RAB23): c.434T> A (p.Leu145Ter)single nucleotide variantPathogenicrs121908171GRCh37Chr 6, 57059615: 57059615
7RAB23RAB23, 1-BP INS, 408TinsertionPathogenic

Expression for genes affiliated with Carpenter Syndrome

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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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Biological processes related to Carpenter Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1craniofacial suture morphogenesisGO:00970949.1RAB23, MEGF8

Products for genes affiliated with Carpenter Syndrome

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Sources for Carpenter Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet