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 58 76 30 6
Bone Fragility with Craniosynostosis, Ocular Proptosis, Hydrocephalus, and Distinctive Facial Features 58 76
Clcrp1 58 76
Syndrome, Cole-Carpenter, Type 1 41

Characteristics:

OMIM:

58
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:

33
cole-carpenter syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cole-Carpenter Syndrome 1

UniProtKB/Swiss-Prot : 76 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 : 58 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 11.9

Symptoms & Phenotypes for Cole-Carpenter Syndrome 1

Human phenotypes related to Cole-Carpenter Syndrome 1:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 33 HP:0002007
2 hydrocephalus 33 HP:0000238
3 osteopenia 33 HP:0000938
4 scoliosis 33 HP:0002650
5 short stature 33 HP:0004322
6 micrognathia 33 HP:0000347
7 microdontia 33 HP:0000691
8 coronal craniosynostosis 33 HP:0004440
9 recurrent fractures 33 HP:0002757
10 midface retrusion 33 HP:0011800
11 high pitched voice 33 HP:0001620
12 orbital craniosynostosis 33 HP:0005472
13 communicating hydrocephalus 33 HP:0001334
14 vertebral compression fractures 33 HP:0002953
15 shallow orbits 33 HP:0000586

Symptoms via clinical synopsis from OMIM:

58
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 30 P4HB

Anatomical Context for Cole-Carpenter Syndrome 1

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

42
Bone

Publications for Cole-Carpenter Syndrome 1

Articles related to Cole-Carpenter Syndrome 1:

# Title Authors Year
1
Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report. ( 29384951 )
2017

Variations for Cole-Carpenter Syndrome 1

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

76
# Symbol AA change Variation ID SNP ID
1 P4HB p.Tyr393Cys VAR_073440 rs786204843

ClinVar genetic disease variations for Cole-Carpenter Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 P4HB NM_000918.3(P4HB): c.1178A> G (p.Tyr393Cys) single nucleotide variant Pathogenic rs786204843 GRCh37 Chromosome 17, 79803618: 79803618
2 P4HB NM_000918.3(P4HB): c.1178A> G (p.Tyr393Cys) single nucleotide variant Pathogenic rs786204843 GRCh38 Chromosome 17, 81845742: 81845742

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
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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