Aliases & Classifications for Cohen-Gibson Syndrome

MalaCards integrated aliases for Cohen-Gibson Syndrome:

Name: Cohen-Gibson Syndrome 57 75 29 6
Cogis 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation
onset at birth


Classifications:



External Ids:

OMIM 57 617561
MeSH 44 D001847

Summaries for Cohen-Gibson Syndrome

OMIM : 57 Cohen-Gibson syndrome is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by Cooney et al., 2017). (617561)

MalaCards based summary : Cohen-Gibson Syndrome, also known as cogis, is related to glaucoma, primary open angle and open-angle glaucoma. An important gene associated with Cohen-Gibson Syndrome is EED (Embryonic Ectoderm Development), and among its related pathways/superpathways are Developmental Biology and Cellular Senescence (REACTOME). Affiliated tissues include bone and eye.

UniProtKB/Swiss-Prot : 75 Cohen-Gibson syndrome: An autosomal dominant overgrowth disorder characterized by accelerated osseous maturation, advanced bone age, skeletal abnormalities including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, scoliosis, cervical spine anomalies, dysmorphic facial features, and variable intellectual disability.

Related Diseases for Cohen-Gibson Syndrome

Diseases related to Cohen-Gibson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glaucoma, primary open angle 9.9
2 open-angle glaucoma 9.9
3 ocular hypertension 9.9

Symptoms & Phenotypes for Cohen-Gibson Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Head And Neck Ears:
low-set ears
large ears
long ears

Neurologic Central Nervous System:
intellectual disability
poor coordination
delayed psychomotor development
abnormal gait
delayed speech

Head And Neck Nose:
depressed nasal bridge
wide nasal bridge

Head And Neck Face:
retrognathia
broad forehead
round face
short forehead
crease between the mouth and the chin

Skeletal Hands:
large hands
camptodactyly
long fingers
broad thumbs
long hands
more
Muscle Soft Tissue:
hypotonia

Skeletal Feet:
large feet
pes planovalgus

Skeletal Pelvis:
small iliac wings
flattened acetabulum and femoral head

Cardiovascular Heart:
patent ductus arteriosus (in some patients)
septal defect (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
flaring of the clavicles

Head And Neck Eyes:
hypertelorism
ptosis
myopia
downslanting palpebral fissures
epicanthal folds
more
Skeletal:
osteopenia
advanced bone age
joint contractures
chondromalacia

Skeletal Spine:
scoliosis
cervical spine stenosis

Abdomen External Features:
umbilical hernia

Skeletal Limbs:
coxa valga
flared metaphyses
subluxation of the patellae

Growth Height:
tall stature
increased birth length

Skin Nails Hair Skin:
pigmented nevi

Growth Weight:
increased birth weight
increased weight

Skin Nails Hair Nails:
small nails
thin nails

Growth Other:
excessive postnatal growth


Clinical features from OMIM:

617561

Drugs & Therapeutics for Cohen-Gibson Syndrome

Search Clinical Trials , NIH Clinical Center for Cohen-Gibson Syndrome

Genetic Tests for Cohen-Gibson Syndrome

Genetic tests related to Cohen-Gibson Syndrome:

# Genetic test Affiliating Genes
1 Cohen-Gibson Syndrome 29 EED

Anatomical Context for Cohen-Gibson Syndrome

MalaCards organs/tissues related to Cohen-Gibson Syndrome:

41
Bone, Eye

Publications for Cohen-Gibson Syndrome

Variations for Cohen-Gibson Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Cohen-Gibson Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 EED p.Arg236Thr VAR_078316
2 EED p.Arg302Ser VAR_078317
3 EED p.Asn194Ser VAR_079255
4 EED p.Arg236Gly VAR_079256
5 EED p.His258Tyr VAR_079257
6 EED p.Arg302Gly VAR_079258

ClinVar genetic disease variations for Cohen-Gibson Syndrome:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 EED NM_003797.4(EED): c.906A> C (p.Arg302Ser) single nucleotide variant Pathogenic rs1131692173 GRCh38 Chromosome 11, 86268501: 86268501
2 EED NM_003797.4(EED): c.906A> C (p.Arg302Ser) single nucleotide variant Pathogenic rs1131692173 GRCh37 Chromosome 11, 85979543: 85979543
3 EED NM_003797.4(EED): c.772C> T (p.His258Tyr) single nucleotide variant Pathogenic rs1131692174 GRCh38 Chromosome 11, 86266128: 86266128
4 EED NM_003797.4(EED): c.772C> T (p.His258Tyr) single nucleotide variant Pathogenic rs1131692174 GRCh37 Chromosome 11, 85977170: 85977170
5 EED NM_003797.4(EED): c.904A> G (p.Arg302Gly) single nucleotide variant Pathogenic rs1131692175 GRCh37 Chromosome 11, 85979541: 85979541
6 EED NM_003797.4(EED): c.904A> G (p.Arg302Gly) single nucleotide variant Pathogenic rs1131692175 GRCh38 Chromosome 11, 86268499: 86268499
7 EED NM_003797.4(EED): c.707G> C (p.Arg236Thr) single nucleotide variant Pathogenic rs1131692176 GRCh38 Chromosome 11, 86264244: 86264244
8 EED NM_003797.4(EED): c.707G> C (p.Arg236Thr) single nucleotide variant Pathogenic rs1131692176 GRCh37 Chromosome 11, 85975286: 85975286
9 EED NM_003797.4(EED): c.1062G> A (p.Gly354=) single nucleotide variant Benign rs776126866 GRCh38 Chromosome 11, 86277075: 86277075
10 EED NM_003797.4(EED): c.1062G> A (p.Gly354=) single nucleotide variant Benign rs776126866 GRCh37 Chromosome 11, 85988117: 85988117
11 EED NM_003797.4(EED): c.198A> G (p.Lys66=) single nucleotide variant Likely benign rs182106684 GRCh37 Chromosome 11, 85961421: 85961421
12 EED NM_003797.4(EED): c.198A> G (p.Lys66=) single nucleotide variant Likely benign rs182106684 GRCh38 Chromosome 11, 86250379: 86250379

Expression for Cohen-Gibson Syndrome

Search GEO for disease gene expression data for Cohen-Gibson Syndrome.

Pathways for Cohen-Gibson Syndrome

Pathways related to Cohen-Gibson Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 EED MIR6755
2
Show member pathways
12.2 EED MIR6755
3
Show member pathways
12 EED MIR6755
4
Show member pathways
11.11 EED MIR6755
5 9.85 EED MIR6755

GO Terms for Cohen-Gibson Syndrome

Sources for Cohen-Gibson Syndrome

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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