COGIS
MCID: CHN070
MIFTS: 29

Cohen-Gibson Syndrome (COGIS)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Cohen-Gibson Syndrome

MalaCards integrated aliases for Cohen-Gibson Syndrome:

Name: Cohen-Gibson Syndrome 57 73 72 36 29 6
Cogis 57 72
Syndrome Cohen-Gibson 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation
onset at birth


HPO:

31
cohen-gibson syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



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) (Updated 20-May-2021)

MalaCards based summary : Cohen-Gibson Syndrome, also known as cogis, is related to weaver syndrome and cryptorchidism, unilateral or bilateral. An important gene associated with Cohen-Gibson Syndrome is EED (Embryonic Ectoderm Development). Affiliated tissues include bone, and related phenotypes are patent ductus arteriosus and macrocephaly

KEGG : 36 Cohen-Gibson syndrome (COGIS) is an overgrowth syndrome caused by mutations in EED. Patients are with overgrowth, facial dysmorphism and intellectual disability. EED is a member of the polycomb repressive complex 2 (PRC2) that maintains gene silencing.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Cohen-Gibson Syndrome is a disorder linked to overgrowth and is characterized by dysmorphic facial... more...

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 weaver syndrome 11.3
2 cryptorchidism, unilateral or bilateral 10.1
3 alacrima, achalasia, and mental retardation syndrome 10.1
4 eed-related overgrowth 10.1
5 overgrowth syndrome 10.1
6 glaucoma, primary open angle 9.9
7 intraocular pressure quantitative trait locus 9.9
8 open-angle glaucoma 9.9
9 ocular hypertension 9.9

Graphical network of the top 20 diseases related to Cohen-Gibson Syndrome:



Diseases related to Cohen-Gibson Syndrome

Symptoms & Phenotypes for Cohen-Gibson Syndrome

Human phenotypes related to Cohen-Gibson Syndrome:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 patent ductus arteriosus 31 very rare (1%) HP:0001643
2 macrocephaly 31 HP:0000256
3 intellectual disability 31 HP:0001249
4 scoliosis 31 HP:0002650
5 ptosis 31 HP:0000508
6 gait disturbance 31 HP:0001288
7 osteopenia 31 HP:0000938
8 cataract 31 HP:0000518
9 global developmental delay 31 HP:0001263
10 depressed nasal bridge 31 HP:0005280
11 hypertelorism 31 HP:0000316
12 macrotia 31 HP:0000400
13 wide nasal bridge 31 HP:0000431
14 delayed speech and language development 31 HP:0000750
15 umbilical hernia 31 HP:0001537
16 broad thumb 31 HP:0011304
17 retrognathia 31 HP:0000278
18 low-set ears 31 HP:0000369
19 epicanthus 31 HP:0000286
20 myopia 31 HP:0000545
21 melanocytic nevus 31 HP:0000995
22 joint laxity 31 HP:0001388
23 downslanted palpebral fissures 31 HP:0000494
24 broad forehead 31 HP:0000337
25 tall stature 31 HP:0000098
26 round face 31 HP:0000311
27 coxa valga 31 HP:0002673
28 large hands 31 HP:0001176
29 accelerated skeletal maturation 31 HP:0005616
30 generalized hypotonia 31 HP:0001290
31 thin nail 31 HP:0001816
32 small nail 31 HP:0001792
33 camptodactyly 31 HP:0012385
34 hypoplastic iliac wing 31 HP:0002866
35 long fingers 31 HP:0100807
36 long foot 31 HP:0001833
37 long ear 31 HP:0400004
38 poor coordination 31 HP:0002370

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly

Skeletal Spine:
scoliosis
cervical spine stenosis

Skeletal:
osteopenia
advanced bone age
joint contractures
chondromalacia

Abdomen External Features:
umbilical hernia

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

Skeletal Limbs:
coxa valga
flared metaphyses
subluxation of the patellae

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

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

Head And Neck Eyes:
ptosis
hypertelorism
myopia
downslanting palpebral fissures
epicanthal folds
more
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

Growth Height:
tall stature
increased birth length

Skeletal Hands:
large hands
camptodactyly
long fingers
broad thumbs
long hands
more
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 (Updated 20-May-2021)

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:

40
Bone

Publications for Cohen-Gibson Syndrome

Articles related to Cohen-Gibson Syndrome:

# Title Authors PMID Year
1
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. 6 57
28229514 2017
2
Novel EED mutation in patient with Weaver syndrome. 6 57
27868325 2017
3
EED-associated overgrowth in a second male patient. 6 57
27193220 2016
4
Corrigendum: A novel mutation in EED associated with overgrowth. 6
28119537 2017
5
A novel mutation in EED associated with overgrowth. 57
25787343 2015
6
Rare SUZ12 variants commonly cause an overgrowth phenotype. 61
31736240 2019
7
PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes. 61
31724824 2019
8
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome. 61
30793471 2019
9
Direct cost and predictive factors for treatment in patients with ocular hypertension or early, moderate and advanced primary open-angle glaucoma: the CoGIS study in Germany. 61
23624617 2013

Variations for Cohen-Gibson Syndrome

ClinVar genetic disease variations for Cohen-Gibson Syndrome:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EED NM_003797.5(EED):c.772C>T (p.His258Tyr) SNV Pathogenic 430644 rs1131692174 GRCh37: 11:85977170-85977170
GRCh38: 11:86266128-86266128
2 EED NM_003797.5(EED):c.904A>G (p.Arg302Gly) SNV Pathogenic 430645 rs1131692175 GRCh37: 11:85979541-85979541
GRCh38: 11:86268499-86268499
3 EED NM_003797.5(EED):c.707G>C (p.Arg236Thr) SNV Pathogenic 430646 rs1131692176 GRCh37: 11:85975286-85975286
GRCh38: 11:86264244-86264244
4 EED NM_003797.5(EED):c.906A>C (p.Arg302Ser) SNV Pathogenic 430643 rs1131692173 GRCh37: 11:85979543-85979543
GRCh38: 11:86268501-86268501
5 EED NM_003797.5(EED):c.1097T>C (p.Met366Thr) SNV Likely pathogenic 584435 rs1565706229 GRCh37: 11:85988152-85988152
GRCh38: 11:86277110-86277110
6 EED NM_003797.5(EED):c.1133C>T (p.Ala378Val) SNV Likely pathogenic 802712 rs1593776227 GRCh37: 11:85988967-85988967
GRCh38: 11:86277925-86277925
7 EED NM_003797.5(EED):c.9G>T (p.Glu3Asp) SNV Uncertain significance 845923 GRCh37: 11:85956280-85956280
GRCh38: 11:86245238-86245238
8 EED NM_003797.5(EED):c.73A>G (p.Ser25Gly) SNV Uncertain significance 931185 GRCh37: 11:85956344-85956344
GRCh38: 11:86245302-86245302
9 EED NM_003797.5(EED):c.532A>G (p.Ile178Val) SNV Uncertain significance 971694 GRCh37: 11:85967534-85967534
GRCh38: 11:86256492-86256492
10 EED NM_003797.5(EED):c.50C>T (p.Ala17Val) SNV Uncertain significance 979180 GRCh37: 11:85956321-85956321
GRCh38: 11:86245279-86245279
11 EED NM_003797.5(EED):c.11G>A (p.Arg4Lys) SNV Uncertain significance 1011488 GRCh37: 11:85956282-85956282
GRCh38: 11:86245240-86245240
12 EED NM_003797.5(EED):c.438C>G (p.Asn146Lys) SNV Uncertain significance 577275 rs1565692818 GRCh37: 11:85967440-85967440
GRCh38: 11:86256398-86256398
13 EED NM_003797.5(EED):c.880A>G (p.Ile294Val) SNV Uncertain significance 659525 rs781731485 GRCh37: 11:85979517-85979517
GRCh38: 11:86268475-86268475
14 EED NM_003797.5(EED):c.198A>G (p.Lys66=) SNV Likely benign 544590 rs182106684 GRCh37: 11:85961421-85961421
GRCh38: 11:86250379-86250379
15 EED NM_003797.5(EED):c.96C>T (p.Asp32=) SNV Likely benign 796895 rs779705890 GRCh37: 11:85956367-85956367
GRCh38: 11:86245325-86245325
16 EED NM_003797.5(EED):c.148A>C (p.Thr50Pro) SNV Likely benign 798256 rs149126431 GRCh37: 11:85961371-85961371
GRCh38: 11:86250329-86250329
17 EED NM_003797.5(EED):c.820A>G (p.Ile274Val) SNV Likely benign 800180 rs367891435 GRCh37: 11:85977218-85977218
GRCh38: 11:86266176-86266176
18 EED NM_003797.5(EED):c.1199+10T>C SNV Benign 766911 rs79218214 GRCh37: 11:85989043-85989043
GRCh38: 11:86278001-86278001
19 EED NM_003797.5(EED):c.1199+8_1199+11del Deletion Benign 772140 rs372689705 GRCh37: 11:85989039-85989042
GRCh38: 11:86277997-86278000
20 EED NM_003797.5(EED):c.1062G>A (p.Gly354=) SNV Benign 478372 rs776126866 GRCh37: 11:85988117-85988117
GRCh38: 11:86277075-86277075

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

72
# Symbol AA change Variation ID SNP ID
1 EED p.Arg236Thr VAR_078316 rs113169217
2 EED p.Arg302Ser VAR_078317 rs113169217
3 EED p.Asn194Ser VAR_079255
4 EED p.Arg236Gly VAR_079256
5 EED p.His258Tyr VAR_079257 rs113169217
6 EED p.Arg302Gly VAR_079258 rs113169217

Expression for Cohen-Gibson Syndrome

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

Pathways for Cohen-Gibson Syndrome

GO Terms for Cohen-Gibson Syndrome

Sources for Cohen-Gibson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....