MCID: CLC057
MIFTS: 35

Cole-Carpenter Syndrome

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cole-Carpenter Syndrome

MalaCards integrated aliases for Cole-Carpenter Syndrome:

Name: Cole-Carpenter Syndrome 12 59 37 29 15
Cole Carpenter Syndrome 75 53 44 72
Bone Fragility with Craniosynostosis, Ocular Proptosis, Hydrocephalus, and Distinctive Facial Features 53
Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome 59
Syndrome, Cole-Carpenter 40

Characteristics:

Orphanet epidemiological data:

59
cole-carpenter syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060438
KEGG 37 H01572
MeSH 44 C535963
NCIt 50 C130985
MESH via Orphanet 45 C535963
ICD10 via Orphanet 34 Q78.0
UMLS via Orphanet 73 C1862178
Orphanet 59 ORPHA2050
UMLS 72 C1862178

Summaries for Cole-Carpenter Syndrome

KEGG : 37
Cole-Carpenter syndrome (CCS) is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. CCS was first described in 1987 as a newly recognized type of osteogenesis imperfecta (OI). Despite its apparent extreme rarity, CCS is commonly classified as a separate OI-like disorder. CCS is caused by a specific de novo mutation in P4HB, the gene that encodes protein disulfide isomerase (PDI), that impairs the disulfide isomerase activity. Mutations in SEC24D, a gene encoding a component of the COPII complex machinery, have been reported to cause CCS as well.

MalaCards based summary : Cole-Carpenter Syndrome, also known as cole carpenter syndrome, is related to hydrocephalus and cole-carpenter syndrome 1. An important gene associated with Cole-Carpenter Syndrome is SEC24D (SEC24 Homolog D, COPII Coat Complex Component), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Apoptosis and survival Caspase cascade. Affiliated tissues include bone and eye, and related phenotypes are frontal bossing and skeletal dysplasia

Disease Ontology : 12 An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2050DefinitionAn extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).Visit the Orphanet disease page for more resources.

Wikipedia : 75 Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that... more...

Related Diseases for Cole-Carpenter Syndrome

Diseases in the Cole-Carpenter Syndrome family:

Cole-Carpenter Syndrome 1 Cole-Carpenter Syndrome 2

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 hydrocephalus 30.1 SEC24D P4HB
2 cole-carpenter syndrome 1 13.1
3 cole-carpenter syndrome 2 13.0
4 carpenter syndrome 1 10.7
5 brittle bone disorder 10.6
6 exophthalmos 10.6
7 col1a1/2-related osteogenesis imperfecta 10.6
8 craniosynostosis 10.6
9 congenital hydrocephalus 10.5
10 bone mineral density quantitative trait locus 3 10.3
11 osteogenesis imperfecta, type vii 10.3
12 carpenter syndrome 2 10.3
13 scoliosis 10.3
14 dentinogenesis imperfecta 10.3

Graphical network of the top 20 diseases related to Cole-Carpenter Syndrome:



Diseases related to Cole-Carpenter Syndrome

Symptoms & Phenotypes for Cole-Carpenter Syndrome

Human phenotypes related to Cole-Carpenter Syndrome:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
3 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
6 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
7 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
8 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
9 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
10 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
11 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
12 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
13 blue sclerae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000592
14 crumpled long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006367
15 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
16 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
17 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
18 wormian bones 59 32 frequent (33%) Frequent (79-30%) HP:0002645
19 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
20 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
21 turricephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000262
22 recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757
23 communicating hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0001334
24 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
25 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
26 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494

Drugs & Therapeutics for Cole-Carpenter Syndrome

Search Clinical Trials , NIH Clinical Center for Cole-Carpenter Syndrome

Cochrane evidence based reviews: cole carpenter syndrome

Genetic Tests for Cole-Carpenter Syndrome

Genetic tests related to Cole-Carpenter Syndrome:

# Genetic test Affiliating Genes
1 Cole-Carpenter Syndrome 29

Anatomical Context for Cole-Carpenter Syndrome

MalaCards organs/tissues related to Cole-Carpenter Syndrome:

41
Bone, Eye

Publications for Cole-Carpenter Syndrome

Articles related to Cole-Carpenter Syndrome:

(show all 12)
# Title Authors PMID Year
1
Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D. 38 71
30462379 2018
2
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 38 71
25683117 2015
3
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 38 71
25683121 2015
4
Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta. 71
27942778 2017
5
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. 71
26467156 2016
6
Cole-Carpenter syndrome in a patient from Thailand. 38
30063094 2018
7
P4HB recurrent missense mutation causing Cole-Carpenter syndrome. 38
29263160 2018
8
Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report. 38
29384951 2017
9
CRTAP mutation in a patient with Cole-Carpenter syndrome. 38
25604815 2015
10
Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report. 38
12868472 2003
11
New case of Cole-Carpenter syndrome. 38
10842295 2000
12
Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus. 38
8591675 1995

Variations for Cole-Carpenter Syndrome

Expression for Cole-Carpenter Syndrome

Search GEO for disease gene expression data for Cole-Carpenter Syndrome.

Pathways for Cole-Carpenter Syndrome

Pathways related to Cole-Carpenter Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

GO Terms for Cole-Carpenter Syndrome

Cellular components related to Cole-Carpenter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.26 SEC24D SEC23A P4HB CRTAP
2 ER to Golgi transport vesicle membrane GO:0012507 9.16 SEC24D SEC23A
3 COPII vesicle coat GO:0030127 8.62 SEC24D SEC23A

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

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.4 P4HB GSN
2 ER to Golgi vesicle-mediated transport GO:0006888 9.37 SEC24D SEC23A
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.32 SEC24D SEC23A
4 COPII vesicle coating GO:0048208 9.26 SEC24D SEC23A
5 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.16 SEC24D SEC23A
6 vesicle-mediated transport GO:0016192 9.13 SEC24D SEC23A GSN
7 cargo loading into COPII-coated vesicle GO:0090110 8.62 SEC24D SEC23A

Sources for Cole-Carpenter Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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