CLCRP1
MCID: CLC056
MIFTS: 22

Cole-Carpenter Syndrome 1 (CLCRP1)

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

Aliases & Classifications for Cole-Carpenter Syndrome 1

MalaCards integrated aliases for Cole-Carpenter Syndrome 1:

Name: Cole-Carpenter Syndrome 1 57 74 29 6
Bone Fragility with Craniosynostosis, Ocular Proptosis, Hydrocephalus, and Distinctive Facial Features 57 74
Clcrp1 57 74
Syndrome, Cole-Carpenter, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
bone fragility is not apparent at birth, but becomes evident within several months of life
based on 2 patients with p4hb mutations (last curated april 2015)


HPO:

32
cole-carpenter syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cole-Carpenter Syndrome 1

UniProtKB/Swiss-Prot : 74 Cole-Carpenter syndrome 1: A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant.

MalaCards based summary : Cole-Carpenter Syndrome 1, also known as bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features, is related to cole-carpenter syndrome. An important gene associated with Cole-Carpenter Syndrome 1 is P4HB (Prolyl 4-Hydroxylase Subunit Beta). Affiliated tissues include bone, and related phenotypes are frontal bossing and hydrocephalus

OMIM : 57 Cole-Carpenter syndrome is characterized by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features (Cole and Carpenter, 1987). (112240)

Related Diseases for Cole-Carpenter Syndrome 1

Diseases in the Cole-Carpenter Syndrome family:

Cole-Carpenter Syndrome 1 Cole-Carpenter Syndrome 2

Diseases related to Cole-Carpenter Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cole-carpenter syndrome 12.0

Symptoms & Phenotypes for Cole-Carpenter Syndrome 1

Human phenotypes related to Cole-Carpenter Syndrome 1:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 32 HP:0002007
2 hydrocephalus 32 HP:0000238
3 osteopenia 32 HP:0000938
4 scoliosis 32 HP:0002650
5 short stature 32 HP:0004322
6 micrognathia 32 HP:0000347
7 microdontia 32 HP:0000691
8 coronal craniosynostosis 32 HP:0004440
9 recurrent fractures 32 HP:0002757
10 midface retrusion 32 HP:0011800
11 high pitched voice 32 HP:0001620
12 orbital craniosynostosis 32 HP:0005472
13 communicating hydrocephalus 32 HP:0001334
14 vertebral compression fractures 32 HP:0002953
15 shallow orbits 32 HP:0000586

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia

Head And Neck Face:
micrognathia
midface hypoplasia
frontal bossing, progressive

Skeletal Spine:
vertebral compression fractures
severe scoliosis

Head And Neck Head:
enlarged fontanels

Skeletal Pelvis:
decreased trabecular volume on transiliac biopsy
decreased bone formation on transiliac biopsy

Neurologic Central Nervous System:
communicating hydrocephalus, progressive
normal cognitive development

Growth Height:
short stature
marked growth failure

Skeletal Skull:
coronal craniosynostosis
decreased ossification of calvarium
frontal craniosynostosis
widening of coronal, sagittal, and lambdoid sutures

Head And Neck Teeth:
small teeth
hypoplastic enamel

Head And Neck Eyes:
proptosis, progressive
sclerae blue at birth but normal by 1 year of age

Skeletal Limbs:
metaphyseal and compression fractures of long bones in infancy
recurrent diaphyseal fractures of weight-bearing bones
marked deformity of upper and lower extremities
'popcorn epiphyses' in the distal femora and proximal tibiae

Voice:
high-pitched voice

Clinical features from OMIM:

112240

Drugs & Therapeutics for Cole-Carpenter Syndrome 1

Search Clinical Trials , NIH Clinical Center for Cole-Carpenter Syndrome 1

Genetic Tests for Cole-Carpenter Syndrome 1

Genetic tests related to Cole-Carpenter Syndrome 1:

# Genetic test Affiliating Genes
1 Cole-Carpenter Syndrome 1 29 P4HB

Anatomical Context for Cole-Carpenter Syndrome 1

MalaCards organs/tissues related to Cole-Carpenter Syndrome 1:

41
Bone

Publications for Cole-Carpenter Syndrome 1

Articles related to Cole-Carpenter Syndrome 1:

# Title Authors PMID Year
1
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 8 71
25683117 2015
2
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 8
25683121 2015
3
New case of Cole-Carpenter syndrome. 8
10842295 2000
4
Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus. 8
8591675 1995
5
Cole-Carpenter's syndrome. 8
8244509 1993
6
Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. 8
3794889 1987
7
Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report. 38
29384951 2017

Variations for Cole-Carpenter Syndrome 1

ClinVar genetic disease variations for Cole-Carpenter Syndrome 1:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 P4HB NM_000918.4(P4HB): c.1178A> G (p.Tyr393Cys) single nucleotide variant Pathogenic rs786204843 17:79803618-79803618 17:81845742-81845742

UniProtKB/Swiss-Prot genetic disease variations for Cole-Carpenter Syndrome 1:

74
# Symbol AA change Variation ID SNP ID
1 P4HB p.Tyr393Cys VAR_073440 rs786204843

Expression for Cole-Carpenter Syndrome 1

Search GEO for disease gene expression data for Cole-Carpenter Syndrome 1.

Pathways for Cole-Carpenter Syndrome 1

GO Terms for Cole-Carpenter Syndrome 1

Sources for Cole-Carpenter Syndrome 1

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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