MCID: CLC055
MIFTS: 19

Cole-Carpenter Syndrome 2

Categories: Genetic diseases

Aliases & Classifications for Cole-Carpenter Syndrome 2

MalaCards integrated aliases for Cole-Carpenter Syndrome 2:

Name: Cole-Carpenter Syndrome 2 57 75 29 6
Clcrp2 57 75
Syndrome, Cole-Carpenter, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cole-carpenter syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cole-Carpenter Syndrome 2

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Cole-Carpenter Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cole-Carpenter Syndrome 2:

32 (show all 21)
# 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 short stature 32 HP:0004322
9 platyspondyly 32 HP:0000926
10 postnatal growth retardation 32 HP:0008897
11 thin ribs 32 HP:0000883
12 coronal craniosynostosis 32 HP:0004440
13 downslanted palpebral fissures 32 HP:0000494
14 midface retrusion 32 HP:0011800
15 proptosis 32 HP:0000520
16 oligohydramnios 32 HP:0001562
17 triangular face 32 HP:0000325
18 microretrognathia 32 HP:0000308
19 high pitched voice 32 HP:0001620
20 blue sclerae 32 HP:0000592
21 lambdoidal craniosynostosis 32 HP:0004443

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

Variations for Cole-Carpenter Syndrome 2

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

75
# 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.613C> T (p.Gln205Ter) single nucleotide variant Pathogenic rs786204845 GRCh37 Chromosome 4, 119736666: 119736666
2 SEC24D NM_014822.3(SEC24D): c.3044C> T (p.Ser1015Phe) single nucleotide variant Pathogenic rs760670617 GRCh37 Chromosome 4, 119644725: 119644725
3 SEC24D NM_014822.3(SEC24D): c.3044C> T (p.Ser1015Phe) single nucleotide variant Pathogenic rs760670617 GRCh38 Chromosome 4, 118723570: 118723570
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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