MCID: CLC057
MIFTS: 40

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 58 36 29 15
Cole Carpenter Syndrome 74 52 43 71
Bone Fragility with Craniosynostosis, Ocular Proptosis, Hydrocephalus, and Distinctive Facial Features 52
Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome 58
Syndrome, Cole-Carpenter 39

Characteristics:

Orphanet epidemiological data:

58
cole-carpenter syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060438
KEGG 36 H01572
MeSH 43 C535963
NCIt 49 C130985
MESH via Orphanet 44 C535963
ICD10 via Orphanet 33 Q78.0
UMLS via Orphanet 72 C1862178
Orphanet 58 ORPHA2050
UMLS 71 C1862178

Summaries for Cole-Carpenter Syndrome

KEGG : 36 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 osteogenesis imperfecta, type vii and scoliosis. 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 Collagen chain trimerization. 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 : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2050 Definition An 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 : 74 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 44)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type vii 29.2 P3H1 CRTAP COL1A2 COL1A1
2 scoliosis 29.1 MBTPS2 FKBP10 COL1A2 COL1A1
3 dentinogenesis imperfecta 28.1 TMEM38B P3H1 IFITM5 FKBP10 CRTAP COL1A2
4 brittle bone disorder 27.0 TMEM38B SEC24D P4HB P3H1 MIA2 IFITM5
5 cole-carpenter syndrome 1 13.1
6 cole-carpenter syndrome 2 13.0
7 carpenter syndrome 1 10.7
8 exophthalmos 10.6
9 craniosynostosis 10.6
10 hydrocephalus 10.5
11 bone mineral density quantitative trait locus 3 10.3
12 carpenter syndrome 2 10.3
13 periosteal osteogenic sarcoma 10.1 P3H1 CRTAP
14 osteogenesis imperfecta, type viii 10.1 P3H1 CRTAP
15 craniolenticulosutural dysplasia 10.1 SEC24D SEC23A MIA2
16 cleft soft palate 10.0 IFITM5 FKBP10
17 boomerang dysplasia 10.0 P3H1 CRTAP
18 spondylocarpotarsal synostosis syndrome 9.8 P3H1 CRTAP
19 ehlers-danlos/osteogenesis imperfecta syndrome 9.7 COL1A2 COL1A1
20 arthrochalasia ehlers-danlos syndrome 9.7 COL1A2 COL1A1
21 col1a1/2 osteogenesis imperfecta 9.7 COL1A2 COL1A1
22 high bone mass osteogenesis imperfecta 9.7 COL1A2 COL1A1
23 larsen-like syndrome 9.7 COL1A2 COL1A1
24 type i ehlers-danlos syndrome 9.7 COL1A2 COL1A1
25 scleroderma, familial progressive 9.7 COL1A2 COL1A1
26 dentin dysplasia 9.7 MIA2 COL1A1
27 classic ehlers-danlos syndrome 9.7 COL1A2 COL1A1
28 gliofibroma 9.7 COL1A2 COL1A1
29 ehlers-danlos syndrome, classic type, 1 9.6 COL1A2 COL1A1
30 diffuse scleroderma 9.6 COL1A2 COL1A1
31 osteogenesis imperfecta, type i 9.6 CRTAP COL1A2 COL1A1
32 x-linked alport syndrome 9.6 COL1A2 COL1A1
33 osteoporosis, juvenile 9.5 CRTAP COL1A2 COL1A1
34 osteogenesis imperfecta, type v 9.5 IFITM5 COL1A2 COL1A1
35 osteogenesis imperfecta, type vi 9.5 IFITM5 COL1A2 COL1A1
36 caffey disease 9.5 COL1A2 COL1A1
37 otosclerosis 9.5 CRTAP COL1A2 COL1A1
38 fibrogenesis imperfecta ossium 9.1 P3H1 CRTAP COL1A2 COL1A1
39 osteogenesis imperfecta, type ii 8.9 P3H1 FKBP10 CRTAP COL1A2 COL1A1
40 osteogenesis imperfecta, type iv 8.7 TMEM38B P3H1 FKBP10 CRTAP COL1A2 COL1A1
41 bone development disease 8.5 P3H1 MIA2 IFITM5 FKBP10 CRTAP COL1A2
42 bruck syndrome 8.4 TMEM38B P3H1 IFITM5 FKBP10 CRTAP COL1A2
43 osteogenesis imperfecta, type iii 8.4 P3H1 FKBP10 CRTAP CREB3L1 COL1A2 COL1A1
44 odontochondrodysplasia 8.2 TMEM38B P3H1 MIA2 IFITM5 FKBP10 CRTAP

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:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
7 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
8 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
9 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
10 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
11 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
12 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
13 blue sclerae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000592
14 crumpled long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006367
15 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
16 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
17 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
18 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
19 wormian bones 58 31 frequent (33%) Frequent (79-30%) HP:0002645
20 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
21 turricephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000262
22 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
23 communicating hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0001334
24 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
25 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
26 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692

MGI Mouse Phenotypes related to Cole-Carpenter Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.61 COL1A1 COL1A2 CREB3L1 CRTAP FKBP10 IFITM5
2 skeleton MP:0005390 9.23 COL1A1 COL1A2 CREB3L1 CRTAP FKBP10 IFITM5

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:

40
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. 61 6
30462379 2018
2
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 61 6
25683117 2015
3
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 61 6
25683121 2015
4
Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta. 6
27942778 2017
5
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. 6
26467156 2016
6
Cole-Carpenter syndrome in a patient from Thailand. 61
30063094 2018
7
P4HB recurrent missense mutation causing Cole-Carpenter syndrome. 61
29263160 2018
8
Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report. 61
29384951 2017
9
CRTAP mutation in a patient with Cole-Carpenter syndrome. 61
25604815 2015
10
Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report. 61
12868472 2003
11
New case of Cole-Carpenter syndrome. 61
10842295 2000
12
Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus. 61
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:

36
# 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 membrane GO:0005789 9.73 TMEM38B SEC24D SEC23A MIA2 MBTPS2 CREB3L1
2 endoplasmic reticulum lumen GO:0005788 9.43 P4HB P3H1 FKBP10 CRTAP COL1A2 COL1A1
3 endoplasmic reticulum exit site GO:0070971 9.37 SEC23A MIA2
4 endoplasmic reticulum GO:0005783 9.36 TMEM38B SEC24D SEC23A P4HB P3H1 MIA2
5 COPII vesicle coat GO:0030127 9.32 SEC24D SEC23A
6 collagen type I trimer GO:0005584 9.16 COL1A2 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.65 SEC24D SEC23A MIA2
2 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.46 SEC24D SEC23A
3 chaperone-mediated protein folding GO:0061077 9.43 P3H1 CRTAP
4 collagen metabolic process GO:0032963 9.4 P3H1 COL1A2
5 cargo loading into COPII-coated vesicle GO:0090110 9.37 SEC24D SEC23A
6 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.32 MBTPS2 CREB3L1
7 skin morphogenesis GO:0043589 9.26 COL1A2 COL1A1
8 extracellular matrix constituent secretion GO:0070278 9.16 TMEM38B CREB3L1
9 bone mineralization GO:0030282 9.13 TMEM38B IFITM5 COL1A2
10 negative regulation of post-translational protein modification GO:1901874 8.62 P3H1 CRTAP

Molecular functions related to Cole-Carpenter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A2 COL1A1
2 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL1A1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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