MCID: CLC057
MIFTS: 38

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 76 53 44 73
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
MeSH 44 C535963
NCIt 50 C130985
Orphanet 59 ORPHA2050
MESH via Orphanet 45 C535963
UMLS via Orphanet 74 C1862178
ICD10 via Orphanet 34 Q78.0
KEGG 37 H01572
UMLS 73 C1862178

Summaries for Cole-Carpenter Syndrome

NIH Rare Diseases : 53 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 P4HB (Prolyl 4-Hydroxylase Subunit Beta), 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 muscular hypotonia

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

Wikipedia : 76 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 12.8
2 cole-carpenter syndrome 2 12.8
3 carpenter syndrome 1 10.7
4 bone development disease 9.9 CRTAP FGFR1
5 hydrocephalus 9.9 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:

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

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:

# Title Authors Year
1
Cole-Carpenter syndrome in a patient from Thailand. ( 30063094 )
2018
2
Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D. ( 30462379 )
2018
3
Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report. ( 29384951 )
2017
4
<i>P4HB</i> recurrent missense mutation causing Cole-Carpenter syndrome. ( 29263160 )
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:

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 9.46 CRTAP P4HB SEC23A SEC24D
2 cytoplasmic vesicle GO:0031410 9.43 FGFR1 SEC23A SEC24D
3 ER to Golgi transport vesicle membrane GO:0012507 8.96 SEC23A SEC24D
4 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 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.37 SEC23A SEC24D
2 vesicle-mediated transport GO:0016192 9.33 GSN SEC23A SEC24D
3 COPII vesicle coating GO:0048208 9.32 SEC23A SEC24D
4 phosphatidylinositol-mediated signaling GO:0048015 9.26 FGFR1 GSN
5 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 8.96 SEC23A SEC24D
6 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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