MCID: CLC057
MIFTS: 36

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 60 38 30 15
Cole Carpenter Syndrome 77 54 45 74
Bone Fragility with Craniosynostosis, Ocular Proptosis, Hydrocephalus, and Distinctive Facial Features 54
Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome 60
Syndrome, Cole-Carpenter 41

Characteristics:

Orphanet epidemiological data:

60
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 38 H01572
MeSH 45 C535963
NCIt 51 C130985
MESH via Orphanet 46 C535963
ICD10 via Orphanet 35 Q78.0
UMLS via Orphanet 75 C1862178
Orphanet 60 ORPHA2050
UMLS 74 C1862178

Summaries for Cole-Carpenter Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2050Disease definitionCole-Carpenter syndrome is 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.

MalaCards based summary : Cole-Carpenter Syndrome, also known as cole carpenter syndrome, is related to cole-carpenter syndrome 1 and cole-carpenter syndrome 2. 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.

Wikipedia : 77 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:

# Related Disease Score Top Affiliating Genes
1 cole-carpenter syndrome 1 12.9
2 cole-carpenter syndrome 2 12.8
3 carpenter syndrome 1 10.7
4 osteogenesis imperfecta, type vii 10.3
5 hydrocephalus 9.7 P4HB SEC24D

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:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
3 bowing of the long bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0006487
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
6 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
7 delayed eruption of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000684
8 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312
9 abnormality of the voice 60 33 hallmark (90%) Very frequent (99-80%) HP:0001608
10 abnormality of the ribs 60 33 hallmark (90%) Very frequent (99-80%) HP:0000772
11 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
12 proptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000520
13 blue sclerae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000592
14 crumpled long bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0006367
15 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
16 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
17 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
18 wormian bones 60 33 frequent (33%) Frequent (79-30%) HP:0002645
19 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
20 abnormality of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0000682
21 turricephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000262
22 recurrent fractures 60 33 frequent (33%) Frequent (79-30%) HP:0002757
23 communicating hydrocephalus 60 33 frequent (33%) Frequent (79-30%) HP:0001334
24 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
25 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
26 downslanted palpebral fissures 60 33 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 30

Anatomical Context for Cole-Carpenter Syndrome

MalaCards organs/tissues related to Cole-Carpenter Syndrome:

42
Bone, Eye

Publications for Cole-Carpenter Syndrome

Articles related to Cole-Carpenter Syndrome:

# Title Authors Year
1
P4HB recurrent missense mutation causing Cole-Carpenter syndrome. ( 29263160 )
2018
2
Cole-Carpenter syndrome in a patient from Thailand. ( 30063094 )
2018
3
Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D. ( 30462379 )
2018
4
Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report. ( 29384951 )
2017
5
CRTAP mutation in a patient with Cole-Carpenter syndrome. ( 25604815 )
2015
6
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. ( 25683117 )
2015
7
New case of Cole-Carpenter syndrome. ( 10842295 )
2000

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:

38
# 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 CRTAP P4HB SEC23A SEC24D
2 ER to Golgi transport vesicle membrane GO:0012507 9.16 SEC23A SEC24D
3 COPII vesicle coat GO:0030127 8.62 SEC23A SEC24D

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 GSN P4HB
2 ER to Golgi vesicle-mediated transport GO:0006888 9.37 SEC23A SEC24D
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.32 SEC23A SEC24D
4 COPII vesicle coating GO:0048208 9.26 SEC23A SEC24D
5 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.16 SEC23A SEC24D
6 vesicle-mediated transport GO:0016192 9.13 GSN SEC23A SEC24D
7 cargo loading into COPII-coated vesicle GO:0090110 8.62 SEC23A SEC24D

Sources for Cole-Carpenter Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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