CLCRP2
MCID: CLC055
MIFTS: 23

Cole-Carpenter Syndrome 2 (CLCRP2)

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

Aliases & Classifications for Cole-Carpenter Syndrome 2

MalaCards integrated aliases for Cole-Carpenter Syndrome 2:

Name: Cole-Carpenter Syndrome 2 57 74 29 6
Clcrp2 57 74
Syndrome, Cole-Carpenter, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable features present
evidence of prenatal fractures


HPO:

32
cole-carpenter syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cole-Carpenter Syndrome 2

UniProtKB/Swiss-Prot : 74 Cole-Carpenter syndrome 2: 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. CLCRP2 inheritance is autosomal recessive.

MalaCards based summary : Cole-Carpenter Syndrome 2, is also known as clcrp2. An important gene associated with Cole-Carpenter Syndrome 2 is SEC24D (SEC24 Homolog D, COPII Coat Complex Component). Affiliated tissues include bone, and related phenotypes are macrocephaly and hypertelorism

More information from OMIM: 616294 PS112240

Related Diseases for Cole-Carpenter Syndrome 2

Diseases in the Cole-Carpenter Syndrome family:

Cole-Carpenter Syndrome 1 Cole-Carpenter Syndrome 2

Symptoms & Phenotypes for Cole-Carpenter Syndrome 2

Human phenotypes related to Cole-Carpenter Syndrome 2:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hypertelorism 32 HP:0000316
3 pectus excavatum 32 HP:0000767
4 frontal bossing 32 HP:0002007
5 high palate 32 HP:0000218
6 hydrocephalus 32 HP:0000238
7 osteopenia 32 HP:0000938
8 kyphosis 32 HP:0002808
9 short stature 32 HP:0004322
10 platyspondyly 32 HP:0000926
11 wormian bones 32 HP:0002645
12 postnatal growth retardation 32 HP:0008897
13 thin ribs 32 HP:0000883
14 coronal craniosynostosis 32 HP:0004440
15 downslanted palpebral fissures 32 HP:0000494
16 turricephaly 32 HP:0000262
17 proptosis 32 HP:0000520
18 midface retrusion 32 HP:0011800
19 oligohydramnios 32 HP:0001562
20 triangular face 32 HP:0000325
21 microretrognathia 32 HP:0000308
22 high pitched voice 32 HP:0001620
23 blue sclerae 32 HP:0000592
24 narrow iliac wings 32 HP:0002868
25 lambdoidal craniosynostosis 32 HP:0004443

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
enlarged fontanels
turricephaly at birth
anterior fontanel not closed

Head And Neck Eyes:
hypertelorism
proptosis
blue sclerae
downslanting palpebral fissures

Head And Neck Face:
frontal bossing
triangular face
microretrognathia
midface hypoplasia

Neurologic Central Nervous System:
hydrocephalus
normal intellectual development

Growth Height:
short stature
postnatal growth failure

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs
prenatal rib fractures

Voice:
high-pitched voice

Skeletal Pelvis:
hypoplastic acetabular roof
high and narrow iliac wings

Head And Neck Nose:
angular root of nose

Skeletal Skull:
macrocephaly
wormian bones
coronal craniosynostosis
widened sutures
multiple wormian bones
more
Chest External Features:
pectus excavatum

Head And Neck Mouth:
high palate

Skeletal:
osteopenia

Head And Neck Teeth:
dentinogenesis imperfecta

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Skeletal Spine:
flattened vertebrae
anterior notching of vertebrae
posterior wedging of vertebrae
mild thoracic kyphosis

Head And Neck Ears:
dysplasia of concha, unilateral, mild

Skeletal Limbs:
multiple fractures and deformities of upper and lower extremities
metaphyseal abnormalities

Clinical features from OMIM:

616294

Drugs & Therapeutics for Cole-Carpenter Syndrome 2

Search Clinical Trials , NIH Clinical Center for Cole-Carpenter Syndrome 2

Genetic Tests for Cole-Carpenter Syndrome 2

Genetic tests related to Cole-Carpenter Syndrome 2:

# Genetic test Affiliating Genes
1 Cole-Carpenter Syndrome 2 29 SEC24D

Anatomical Context for Cole-Carpenter Syndrome 2

MalaCards organs/tissues related to Cole-Carpenter Syndrome 2:

41
Bone

Publications for Cole-Carpenter Syndrome 2

Articles related to Cole-Carpenter Syndrome 2:

# Title Authors PMID Year
1
Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D. 8 71
30462379 2018
2
Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta. 8 71
27942778 2017
3
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. 8 71
26467156 2016
4
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 8 71
25683121 2015

Variations for Cole-Carpenter Syndrome 2

ClinVar genetic disease variations for Cole-Carpenter Syndrome 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SEC24D NM_014822.4(SEC24D): c.3044C> T (p.Ser1015Phe) single nucleotide variant Pathogenic rs760670617 4:119644725-119644725 4:118723570-118723570
2 SEC24D NM_014822.4(SEC24D): c.613C> T (p.Gln205Ter) single nucleotide variant Pathogenic rs786204845 4:119736666-119736666 4:118815511-118815511
3 SEC24D NM_014822.4(SEC24D): c.2933A> C (p.Gln978Pro) single nucleotide variant Pathogenic rs786204846 4:119649741-119649741 4:118728586-118728586
4 SEC24D NM_014822.4(SEC24D): c.113dup (p.Thr39fs) duplication Pathogenic 4:119754739-119754739 4:118833584-118833584
5 SEC24D NM_014822.4(SEC24D): c.2496G> T (p.Gln832His) single nucleotide variant Pathogenic 4:119659416-119659416 4:118738261-118738261
6 SEC24D NM_014822.4(SEC24D): c.2723G> A (p.Cys908Tyr) single nucleotide variant Pathogenic 4:119652616-119652616 4:118731461-118731461
7 SEC24D NM_014822.4(SEC24D): c.2842T> C (p.Ser948Pro) single nucleotide variant Pathogenic 4:119652497-119652497 4:118731342-118731342
8 SEC24D NM_014822.4(SEC24D): c.938G> A (p.Arg313His) single nucleotide variant Pathogenic 4:119718941-119718941 4:118797786-118797786
9 SEC24D NM_014822.4(SEC24D): c.875C> T (p.Pro292Leu) single nucleotide variant Pathogenic 4:119727036-119727036 4:118805881-118805881
10 SEC24D NM_014822.4(SEC24D): c.1450C> T (p.Arg484Ter) single nucleotide variant Pathogenic 4:119674015-119674015 4:118752860-118752860

UniProtKB/Swiss-Prot genetic disease variations for Cole-Carpenter Syndrome 2:

74
# Symbol AA change Variation ID SNP ID
1 SEC24D p.Gln978Pro VAR_073658 rs786204846
2 SEC24D p.Ser1015Phe VAR_073659 rs760670617

Expression for Cole-Carpenter Syndrome 2

Search GEO for disease gene expression data for Cole-Carpenter Syndrome 2.

Pathways for Cole-Carpenter Syndrome 2

GO Terms for Cole-Carpenter Syndrome 2

Sources for Cole-Carpenter Syndrome 2

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
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36 IUPHAR
37 KEGG
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40 LOVD
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44 MeSH
45 MESH via Orphanet
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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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