MCID: CLC057
MIFTS: 43

Cole-Carpenter Syndrome

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Cole-Carpenter Syndrome

MalaCards integrated aliases for Cole-Carpenter Syndrome:

Name: Cole-Carpenter Syndrome 11 58 28 5 14 38 75
Cole Carpenter Syndrome 19 75 43 71
Bone Fragility with Craniosynostosis, Ocular Proptosis, Hydrocephalus, and Distinctive Facial Features 19
Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome 58
Bone Fragility Craniosynostosis Proptosis Hydrocephalus 75

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

Classifications:

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


External Ids:

Disease Ontology 11 DOID:0060438
MeSH 43 C535963
NCIt 49 C130985
MESH via Orphanet 44 C535963
ICD10 via Orphanet 32 Q78.0
UMLS via Orphanet 72 C1862178
Orphanet 58 ORPHA2050
UMLS 71 C1862178

Summaries for Cole-Carpenter Syndrome

GARD: 19 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).

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 Vesicle-mediated transport and Transport to the Golgi and subsequent modification. Affiliated tissues include bone, eye and liver, and related phenotypes are frontal bossing and skeletal dysplasia

Orphanet: 58 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).

Disease Ontology: 11 An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.

Wikipedia 75 Cole-carpenter syndrome: Cole-Carpenter syndrome is an extremely rare autosomal recessive medical condition in humans. The... more...

Bone fragility craniosynostosis proptosis hydrocephalus: Osteogenesis imperfecta (IPA: /ˌɒstioʊˈdʒɛnəsɪs ˌɪmpɜːrˈfɛktə/; OI), colloquially known as brittle bone... 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 45)
# Related Disease Score Top Affiliating Genes
1 osteogenesis imperfecta, type vii 30.3 P3H1 IFITM5 CRTAP
2 scoliosis 29.7 TENT5A PLOD2 MBTPS2 FKBP10 COL1A2
3 osteogenesis imperfecta, type iii 28.3 TENT5A SERPINH1 SERPINF1 PLOD2 P3H1 IFITM5
4 osteochondrodysplasia 27.3 TMEM38B SERPINH1 SERPINF1 SEC24D PLS3 PLOD2
5 dentinogenesis imperfecta 27.1 TMEM38B TENT5A SERPINH1 SERPINF1 PLOD2 P3H1
6 brittle bone disorder 26.7 TMEM38B TENT5A SERPINH1 SERPINF1 SEC24D SEC24B
7 cole-carpenter syndrome 1 11.9
8 cole-carpenter syndrome 2 11.9
9 carpenter syndrome 1 10.5
10 exophthalmos 10.5
11 craniosynostosis 10.5
12 hydrocephalus 10.4
13 osteogenesis imperfecta, type viii 10.2 P3H1 CRTAP
14 osteogenesis imperfecta, type v 10.1 IFITM5 COL1A2
15 osteogenesis imperfecta, type ix 10.1 P3H1 CRTAP
16 bone mineral density quantitative trait locus 3 10.1
17 carpenter syndrome 2 10.1
18 high bone mass osteogenesis imperfecta 10.1 COL1A2 BMP1
19 brittle cornea syndrome 1 10.1 TMEM38B SEC24D
20 fibrogenesis imperfecta ossium 10.1 P3H1 CRTAP COL1A2
21 chiari malformation 10.1 COL1A2 BMP1
22 dentin dysplasia 10.0 MIA2 COL1A2
23 osteogenesis imperfecta, type xv 10.0 TMEM38B PLS3 P3H1
24 keratosis pilaris atrophicans 9.9 TMEM38B SEC24D MIA2 MBTPS2 CREB3L1
25 osteogenesis imperfecta, type vi 9.9 SERPINF1 IFITM5 COL1A2
26 achondrogenesis 9.9 MIA2 COL1A2
27 anemia, congenital dyserythropoietic, type ii 9.9 SEC24D SEC24B SEC23A MIA2
28 ehlers-danlos syndrome, arthrochalasia type, 2 9.9 TMEM38B SEC24D IFITM5 CRTAP COL1A2
29 osteogenesis imperfecta, type xi 9.9 PLOD2 P4HB FKBP10 CRTAP COL1A2
30 spondyloepiphyseal dysplasia congenita 9.8 SERPINH1 SEC23A CREB3L1
31 osteogenesis imperfecta, type xiv 9.8 TMEM38B P3H1 FKBP10 CRTAP CREB3L1 COL1A2
32 caffey disease 9.7 TMEM38B P3H1 IFITM5 FKBP10 CRTAP COL1A2
33 chylomicron retention disease 9.7 SEC24D SEC24B MIA3 MIA2
34 osteogenesis imperfecta, type xix 9.6 SEC24D SEC24B P3H1 MIA2 MBTPS2 FKBP10
35 osteoporosis 9.6 PLS3 P3H1 IFITM5 CRTAP COL1A2 BMP1
36 ehlers-danlos syndrome, classic type, 1 9.6 P3H1 MIA3 FKBP10 CRTAP COL1A2
37 craniolenticulosutural dysplasia 9.5 SEC24D SEC24B SEC23A MIA3 MIA2
38 osteoporosis, juvenile 9.5 TMEM38B PLS3 P3H1 IFITM5 FKBP10 CRTAP
39 osteogenesis imperfecta, type ii 9.3 TMEM38B SERPINH1 P3H1 IFITM5 FKBP10 CRTAP
40 osteogenesis imperfecta, type iv 9.3 TMEM38B SERPINF1 PLS3 P3H1 IFITM5 FKBP10
41 ehlers-danlos syndrome 9.3 SERPINH1 PLOD2 P3H1 MIA2 FKBP10 CRTAP
42 keratosis follicularis spinulosa decalvans 9.2 TMEM38B SEC24D P3H1 MIA3 MIA2 MBTPS2
43 bone development disease 9.0 TMEM38B SERPINH1 SERPINF1 P3H1 MIA2 IFITM5
44 osteogenesis imperfecta, type i 8.8 TMEM38B SERPINF1 SEC24D PLS3 P4HB P3H1
45 bruck syndrome 8.6 TMEM38B SERPINH1 SERPINF1 SEC24D PLOD2 P3H1

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

MGI Mouse Phenotypes related to Cole-Carpenter Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.17 BMP1 COL1A2 CREB3L1 FKBP10 IFITM5 MIA2
2 growth/size/body region MP:0005378 10.13 BMP1 COL1A2 CREB3L1 CRTAP FKBP10 IFITM5
3 limbs/digits/tail MP:0005371 10.02 BMP1 COL1A2 FKBP10 IFITM5 MIA3 P3H1
4 cardiovascular system MP:0005385 9.9 BMP1 COL1A2 FKBP10 MIA3 P3H1 PLOD2
5 skeleton MP:0005390 9.77 BMP1 COL1A2 CREB3L1 CRTAP FKBP10 IFITM5
6 mortality/aging MP:0010768 9.47 BMP1 COL1A2 FKBP10 IFITM5 MIA2 MIA3

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 28

Anatomical Context for Cole-Carpenter Syndrome

Organs/tissues related to Cole-Carpenter Syndrome:

MalaCards : Bone, Eye, Liver

Publications for Cole-Carpenter Syndrome

Articles related to Cole-Carpenter Syndrome:

(show all 13)
# Title Authors PMID Year
1
Case report: Clinical manifestations and genotype analysis of a child with PTPN11 and SEC24D mutations. 62
36186652 2022
2
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants. 62
33707149 2021
3
A molecular dynamics approach on the Y393C variant of protein disulfide isomerase A1. 62
32352225 2020
4
Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D. 62
30462379 2018
5
Cole-Carpenter syndrome in a patient from Thailand. 62
30063094 2018
6
P4HB recurrent missense mutation causing Cole-Carpenter syndrome. 62
29263160 2018
7
Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report. 62
29384951 2017
8
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 62
25683117 2015
9
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 62
25683121 2015
10
CRTAP mutation in a patient with Cole-Carpenter syndrome. 62
25604815 2015
11
Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report. 62
12868472 2003
12
New case of Cole-Carpenter syndrome. 62
10842295 2000
13
Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus. 62
8591675 1995

Variations for Cole-Carpenter Syndrome

ClinVar genetic disease variations for Cole-Carpenter Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 P4HB NM_000918.4(P4HB):c.1200C>G (p.Cys400Trp) SNV Uncertain Significance
870116 rs2038725295 GRCh37: 17:79803596-79803596
GRCh38: 17:81845720-81845720

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 SEC24D SEC24B SEC23A MIA3 MIA2 COL1A2
2
Show member pathways
12.73 SEC24D SEC24B SEC23A MIA3 MIA2
3
Show member pathways
12.51 BMP1 COL1A2 CRTAP P3H1 P4HB PLOD2
4
Show member pathways
12.34 SERPINH1 PLOD2 P4HB P3H1 CRTAP COL1A2
5
Show member pathways
12.27 SEC24D SEC24B SEC23A MBTPS2
6
Show member pathways
12.26 SEC24D SEC24B SEC23A MBTPS2
7
Show member pathways
11.36 SEC24D SEC24B SEC23A MIA3 MIA2
8 10.99 TMEM38B SERPINH1 SERPINF1 PLOD2 P4HB P3H1
9 10.96 SEC24D SEC24B SEC23A
10 10.32 P4HB P3H1

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 10.2 TMEM38B SEC24D SEC24B SEC23A PLOD2 MIA3
2 endoplasmic reticulum lumen GO:0005788 10 COL1A2 CRTAP FKBP10 MIA3 P3H1 P4HB
3 ER to Golgi transport vesicle membrane GO:0012507 9.85 SEC24D SEC24B SEC23A
4 COPII vesicle coat GO:0030127 9.73 SEC24D SEC24B SEC23A
5 endoplasmic reticulum GO:0005783 9.68 TMEM38B SERPINH1 SEC24D SEC24B SEC23A PLOD2
6 endoplasmic reticulum exit site GO:0070971 9.65 SEC24D SEC24B SEC23A MIA3 MIA2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 bone development GO:0060348 9.93 TMEM38B PLS3 P3H1
2 bone mineralization GO:0030282 9.85 COL1A2 IFITM5 TMEM38B
3 collagen fibril organization GO:0030199 9.85 SERPINH1 FKBP10 CRTAP COL1A2 BMP1
4 aorta morphogenesis GO:0035909 9.84 SEC24B FKBP10
5 extracellular matrix assembly GO:0085029 9.83 FKBP10 COL1A2
6 vesicle cargo loading GO:0035459 9.81 MIA3 MIA2
7 collagen metabolic process GO:0032963 9.8 P3H1 COL1A2
8 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.78 MBTPS2 CREB3L1
9 peptidyl-lysine hydroxylation GO:0017185 9.71 PLOD2 FKBP10
10 endoplasmic reticulum to Golgi vesicle-mediated transport GO:0006888 9.65 SEC24D SEC24B SEC23A P4HB MIA3 MIA2
11 negative regulation of post-translational protein modification GO:1901874 9.62 P3H1 CRTAP
12 protein localization to endoplasmic reticulum exit site GO:0070973 9.61 MIA3 MIA2
13 extracellular matrix constituent secretion GO:0070278 9.56 TMEM38B CREB3L1
14 COPII-coated vesicle cargo loading GO:0090110 9.23 SEC24D SEC24B SEC23A MIA3

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

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.43 SERPINH1 P3H1 CRTAP
2 dioxygenase activity GO:0051213 8.8 PLOD2 P4HB P3H1

Sources for Cole-Carpenter Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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