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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 616294

MeSH ⁴⁵ D003398 D005124 D006849 more

MedGen ⁴³ C4225382 CN229492

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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 eye, and related phenotypes are macrocephaly and hypertelorism

Description from OMIM: 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:

³³ (show all 25)

#	Description	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

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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 ³⁰	SEC24D

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Anatomical Context for Cole-Carpenter Syndrome 2

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

⁴²

Bone, Eye

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Publications for Cole-Carpenter Syndrome 2

Articles related to Cole-Carpenter Syndrome 2:

#	Title	Authors	Year
1	Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. ( 25683121 )	Garbes L...Netzer C	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	1328.38	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	25683121

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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.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

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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

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

ClinVar 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