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 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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616294

MedGen ⁴² C4225382 CN229492

MeSH ⁴⁴ D003398 D005124 D006849 more

SNOMED-CT via HPO ⁶⁹ 258211005 27272007 230745008 more

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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

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Related Diseases for Cole-Carpenter Syndrome 2

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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 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

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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:

⁴¹

Bone

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Publications for Cole-Carpenter Syndrome 2

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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	1328.53	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ 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:

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

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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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