CLCRP2
MCID: CLC055
MIFTS: 20

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 58 76 30 6
Clcrp2 58 76
Syndrome, Cole-Carpenter, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
evidence of prenatal fractures
one 7-year-old boy and 2 fetuses have been reported (last curated april 2015)


HPO:

33
cole-carpenter syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cole-Carpenter Syndrome 2

UniProtKB/Swiss-Prot : 76 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

Description from OMIM: 616294

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:

33 (show all 25)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 hypertelorism 33 HP:0000316
3 pectus excavatum 33 HP:0000767
4 frontal bossing 33 HP:0002007
5 high palate 33 HP:0000218
6 hydrocephalus 33 HP:0000238
7 osteopenia 33 HP:0000938
8 kyphosis 33 HP:0002808
9 short stature 33 HP:0004322
10 platyspondyly 33 HP:0000926
11 wormian bones 33 HP:0002645
12 postnatal growth retardation 33 HP:0008897
13 thin ribs 33 HP:0000883
14 coronal craniosynostosis 33 HP:0004440
15 downslanted palpebral fissures 33 HP:0000494
16 turricephaly 33 HP:0000262
17 midface retrusion 33 HP:0011800
18 proptosis 33 HP:0000520
19 oligohydramnios 33 HP:0001562
20 triangular face 33 HP:0000325
21 microretrognathia 33 HP:0000308
22 high pitched voice 33 HP:0001620
23 blue sclerae 33 HP:0000592
24 narrow iliac wings 33 HP:0002868
25 lambdoidal craniosynostosis 33 HP:0004443

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
enlarged fontanels
turricephaly at birth

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

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

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

Head And Neck Ears:
mild dysplasia of concha, unilateral

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

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

Head And Neck Mouth:
high palate

Skeletal:
osteopenia

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

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 30 SEC24D

Anatomical Context for Cole-Carpenter Syndrome 2

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

42
Bone

Publications for Cole-Carpenter Syndrome 2

Variations for Cole-Carpenter Syndrome 2

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

76
# Symbol AA change Variation ID SNP ID
1 SEC24D p.Gln978Pro VAR_073658 rs786204846
2 SEC24D p.Ser1015Phe VAR_073659 rs760670617

ClinVar genetic disease variations for Cole-Carpenter Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SEC24D NM_014822.3(SEC24D): c.3044C> T (p.Ser1015Phe) single nucleotide variant Pathogenic rs760670617 GRCh37 Chromosome 4, 119644725: 119644725
2 SEC24D NM_014822.3(SEC24D): c.3044C> T (p.Ser1015Phe) single nucleotide variant Pathogenic rs760670617 GRCh38 Chromosome 4, 118723570: 118723570
3 SEC24D NM_014822.3(SEC24D): c.613C> T (p.Gln205Ter) single nucleotide variant Pathogenic rs786204845 GRCh37 Chromosome 4, 119736666: 119736666
4 SEC24D NM_014822.3(SEC24D): c.613C> T (p.Gln205Ter) single nucleotide variant Pathogenic rs786204845 GRCh38 Chromosome 4, 118815511: 118815511
5 SEC24D NM_014822.3(SEC24D): c.2933A> C (p.Gln978Pro) single nucleotide variant Pathogenic rs786204846 GRCh37 Chromosome 4, 119649741: 119649741
6 SEC24D NM_014822.3(SEC24D): c.2933A> C (p.Gln978Pro) single nucleotide variant Pathogenic rs786204846 GRCh38 Chromosome 4, 118728586: 118728586

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
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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