Cole-Carpenter Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 616294

OMIM Phenotypic Series ⁵⁶ PS112240

MeSH ⁴³ D003398 D005124 D006849 more

MedGen ⁴¹ C4225382 CN229492

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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 related phenotypes are hypertelorism and kyphosis

OMIM : ⁵⁶ Cole-Carpenter syndrome-2 (CLCRP2) is a skeletal dysplasia associated with low bone mass or an osteogenesis imperfecta-like syndrome. It is characterized by bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features such as marked frontal bossing, midface hypoplasia, and micrognathia (summary by Takeyari et al., 2018). (616294)

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Related Diseases for Cole-Carpenter Syndrome 2

Diseases in the Cole-Carpenter Syndrome family:

Cole-Carpenter Syndrome 1

Cole-Carpenter Syndrome 2

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Symptoms & Phenotypes for Cole-Carpenter Syndrome 2

Human phenotypes related to Cole-Carpenter Syndrome 2:

³¹ (show all 26)

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

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

Skeletal Skull:
macrocephaly
wormian bones
coronal craniosynostosis
widened sutures
multiple wormian bones
more

Growth Height:
short stature
postnatal growth failure

Skeletal:
osteopenia

Chest External Features:
pectus excavatum

Head And Neck Teeth:
dentinogenesis imperfecta

Voice:
high-pitched voice

Skeletal Pelvis:
hypoplastic acetabular roof
high and narrow iliac wings

Head And Neck Nose:
angular root of nose

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

Neurologic Central Nervous System:
hydrocephalus
normal intellectual development

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

Head And Neck Mouth:
high palate

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

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

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

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Drugs & Therapeutics for Cole-Carpenter Syndrome 2

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

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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

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Anatomical Context for Cole-Carpenter Syndrome 2

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

⁴⁰

Bone

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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. ⁶ ⁵⁶	Takeyari S...Ozono K	30462379	2018
2	Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta. ⁶ ⁵⁶	Zhang H...Zhang Z	27942778	2017
3	Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. ⁵⁶ ⁶	Moosa S...Wollnik B	26467156	2016
4	Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. ⁵⁶ ⁶	Garbes L...Netzer C	25683121	2015

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Genes for Cole-Carpenter Syndrome 2

Genes related to Cole-Carpenter Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SEC24D	SEC24 Homolog D, COPII Coat Complex Component	Protein Coding	1318.6	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26467156 27942778 25683121 (more) 30462379

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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.113dup (p.Thr39fs)	duplication	Pathogenic	638178		4:119754738-119754739	4:118833583-118833584
2	SEC24D	NM_014822.4(SEC24D):c.2496G>T (p.Gln832His)	SNV	Pathogenic	638179		4:119659416-119659416	4:118738261-118738261
3	SEC24D	NM_014822.4(SEC24D):c.2723G>A (p.Cys908Tyr)	SNV	Pathogenic	638180		4:119652616-119652616	4:118731461-118731461
4	SEC24D	NM_014822.4(SEC24D):c.2842T>C (p.Ser948Pro)	SNV	Pathogenic	638181		4:119652497-119652497	4:118731342-118731342
5	SEC24D	NM_014822.4(SEC24D):c.938G>A (p.Arg313His)	SNV	Pathogenic	638182		4:119718941-119718941	4:118797786-118797786
6	SEC24D	NM_014822.4(SEC24D):c.875C>T (p.Pro292Leu)	SNV	Pathogenic	638183		4:119727036-119727036	4:118805881-118805881
7	SEC24D	NM_014822.4(SEC24D):c.1450C>T (p.Arg484Ter)	SNV	Pathogenic	638184		4:119674015-119674015	4:118752860-118752860
8	SEC24D	NM_014822.4(SEC24D):c.3044C>T (p.Ser1015Phe)	SNV	Pathogenic	189339	rs760670617	4:119644725-119644725	4:118723570-118723570
9	SEC24D	NM_014822.4(SEC24D):c.613C>T (p.Gln205Ter)	SNV	Pathogenic	189340	rs786204845	4:119736666-119736666	4:118815511-118815511
10	SEC24D	NM_014822.4(SEC24D):c.2933A>C (p.Gln978Pro)	SNV	Pathogenic	189341	rs786204846	4:119649741-119649741	4:118728586-118728586
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

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Expression for Cole-Carpenter Syndrome 2

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

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Pathways for Cole-Carpenter Syndrome 2

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GO Terms for Cole-Carpenter Syndrome 2

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Cole-Carpenter Syndrome 2 (CLCRP2)

Aliases & Classifications for Cole-Carpenter Syndrome 2

MalaCards integrated aliases for Cole-Carpenter Syndrome 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cole-Carpenter Syndrome 2

Related Diseases for Cole-Carpenter Syndrome 2

Diseases in the Cole-Carpenter Syndrome family:

Symptoms & Phenotypes for Cole-Carpenter Syndrome 2

Human phenotypes related to Cole-Carpenter Syndrome 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Cole-Carpenter Syndrome 2

Genetic Tests for Cole-Carpenter Syndrome 2

Genetic tests related to Cole-Carpenter Syndrome 2:

Anatomical Context for Cole-Carpenter Syndrome 2

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

Publications for Cole-Carpenter Syndrome 2

Articles related to Cole-Carpenter Syndrome 2:

Genes for Cole-Carpenter Syndrome 2

Genes related to Cole-Carpenter Syndrome 2 (1 elite genes):

Variations for Cole-Carpenter Syndrome 2

ClinVar genetic disease variations for Cole-Carpenter Syndrome 2:

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

Expression for Cole-Carpenter Syndrome 2

Pathways for Cole-Carpenter Syndrome 2

GO Terms for Cole-Carpenter Syndrome 2

Sources for Cole-Carpenter Syndrome 2