CLCRP2
MCID: CLC055
MIFTS: 25

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 56 73 29 6
Clcrp2 56 73
Syndrome, Cole-Carpenter, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable features present
evidence of prenatal fractures


HPO:

31
cole-carpenter syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cole-Carpenter Syndrome 2

UniProtKB/Swiss-Prot : 73 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 eye, 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:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 hypertelorism 31 HP:0000316
3 pectus excavatum 31 HP:0000767
4 frontal bossing 31 HP:0002007
5 kyphosis 31 HP:0002808
6 high palate 31 HP:0000218
7 hydrocephalus 31 HP:0000238
8 osteopenia 31 HP:0000938
9 short stature 31 HP:0004322
10 downslanted palpebral fissures 31 HP:0000494
11 midface retrusion 31 HP:0011800
12 dentinogenesis imperfecta 31 HP:0000703
13 platyspondyly 31 HP:0000926
14 wormian bones 31 HP:0002645
15 postnatal growth retardation 31 HP:0008897
16 thin ribs 31 HP:0000883
17 coronal craniosynostosis 31 HP:0004440
18 proptosis 31 HP:0000520
19 oligohydramnios 31 HP:0001562
20 turricephaly 31 HP:0000262
21 triangular face 31 HP:0000325
22 microretrognathia 31 HP:0000308
23 high pitched voice 31 HP:0001620
24 blue sclerae 31 HP:0000592
25 narrow iliac wings 31 HP:0002868
26 lambdoidal craniosynostosis 31 HP:0004443

Symptoms via clinical synopsis from OMIM:

56
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:

40
Bone, Eye

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. 56 6
30462379 2018
2
Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta. 56 6
27942778 2017
3
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. 56 6
26467156 2016
4
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 56 6
25683121 2015

Variations for Cole-Carpenter Syndrome 2

ClinVar genetic disease variations for Cole-Carpenter Syndrome 2:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEC24D NM_014822.4(SEC24D):c.613C>T (p.Gln205Ter)SNV Pathogenic 189340 rs786204845 4:119736666-119736666 4:118815511-118815511
2 SEC24D NM_014822.4(SEC24D):c.3044C>T (p.Ser1015Phe)SNV Pathogenic 189339 rs760670617 4:119644725-119644725 4:118723570-118723570
3 SEC24D NM_014822.4(SEC24D):c.2933A>C (p.Gln978Pro)SNV Pathogenic 189341 rs786204846 4:119649741-119649741 4:118728586-118728586
4 SEC24D NM_014822.4(SEC24D):c.113dup (p.Thr39fs)duplication Pathogenic 638178 4:119754738-119754739 4:118833583-118833584
5 SEC24D NM_014822.4(SEC24D):c.2496G>T (p.Gln832His)SNV Pathogenic 638179 4:119659416-119659416 4:118738261-118738261
6 SEC24D NM_014822.4(SEC24D):c.2723G>A (p.Cys908Tyr)SNV Pathogenic 638180 4:119652616-119652616 4:118731461-118731461
7 SEC24D NM_014822.4(SEC24D):c.2842T>C (p.Ser948Pro)SNV Pathogenic 638181 4:119652497-119652497 4:118731342-118731342
8 SEC24D NM_014822.4(SEC24D):c.938G>A (p.Arg313His)SNV Pathogenic 638182 4:119718941-119718941 4:118797786-118797786
9 SEC24D NM_014822.4(SEC24D):c.875C>T (p.Pro292Leu)SNV Pathogenic 638183 4:119727036-119727036 4:118805881-118805881
10 SEC24D NM_014822.4(SEC24D):c.1450C>T (p.Arg484Ter)SNV Pathogenic 638184 4:119674015-119674015 4:118752860-118752860
11 SEC24D NM_014822.4(SEC24D):c.483T>G (p.Pro161=)SNV Benign 802085 4:119736796-119736796 4:118815641-118815641

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

73
# 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
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10 dbSNP
11 DGIdb
17 EFO
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32 ICD10
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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