GCPS
MCID: GRG001
MIFTS: 51

Greig Cephalopolysyndactyly Syndrome (GCPS) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Greig Cephalopolysyndactyly Syndrome

Aliases & Descriptions for Greig Cephalopolysyndactyly Syndrome:

Name: Greig Cephalopolysyndactyly Syndrome 54 12 23 50 24 25 56 29 13 52 42 14
Gcps 50 25 56 66
Cephalopolysyndactyly Syndrome 23 24 25
Greig Syndrome 50 24
Polysyndactyly with Peculiars Skull Shape 12
Polysyndactyly with Peculiar Skull Shape 50
Greig Cephalo-Poly-Syndactyly Syndrome 66
Aarskog Syndrome 69

Characteristics:

Orphanet epidemiological data:

56
greig cephalopolysyndactyly syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal;

GeneReviews:

23
greig cephalopolysyndactyly syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


GeneReviews:

23
Penetrance One case of apparent non-penetrance has been reported [debeer et al 2003]. it is difficult to estimate a rate of non-penetrance from a single instance, but it is probably a small fraction...

Classifications:



External Ids:

OMIM 54 175700
Disease Ontology 12 DOID:14761
MeSH 42 C537300
NCIt 47 C35255
SNOMED-CT 64 32985001
Orphanet 56 ORPHA380
MESH via Orphanet 43 C537300
UMLS via Orphanet 70 C0265306
ICD10 via Orphanet 34 Q87.0
MedGen 40 C0265306
UMLS 69 C0265306

Summaries for Greig Cephalopolysyndactyly Syndrome

NIH Rare Diseases : 50 greig cephalopolysyndactyly syndrome (gcps) is a congenital disorder that affects development of the limbs, head, and face. findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head size (macrocephaly).the features of this syndrome are highly variable, ranging from polydactyly and syndactyly of the upper and/or lower limbs to seizure, hydrocephalus , and intellectual disability. progression of gcps is dependent on severity. greig cephalopolysyndactyly syndrome is caused by mutations in the gli3 gene. this condition is inherited in an autosomal dominant pattern. treatment is symptomatic. last updated: 12/10/2015

MalaCards based summary : Greig Cephalopolysyndactyly Syndrome, also known as gcps, is related to adrenal cortical hypofunction and orchitis, and has symptoms including seizures, macrocephaly and hypertelorism. An important gene associated with Greig Cephalopolysyndactyly Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Signaling by Hedgehog and Carbon metabolism. The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include skin, eye and heart, and related phenotype is Increased Nanog expression.

Disease Ontology : 12 An acrocephalosyndactylia that has material basis in mutation in the GLI3 gene which results_in abnormal development located in limb, located in head, located in face.

Genetics Home Reference : 25 Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, delayed development, and intellectual disability.

OMIM : 54 Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated... (175700) more...

UniProtKB/Swiss-Prot : 66 Greig cephalo-poly-syndactyly syndrome: Autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism.

Wikipedia : 71 Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and... more...

GeneReviews: NBK1446

Related Diseases for Greig Cephalopolysyndactyly Syndrome

Graphical network of the top 20 diseases related to Greig Cephalopolysyndactyly Syndrome:



Diseases related to Greig Cephalopolysyndactyly Syndrome

Symptoms & Phenotypes for Greig Cephalopolysyndactyly Syndrome

Symptoms by clinical synopsis from OMIM:

175700

Clinical features from OMIM:

175700

Human phenotypes related to Greig Cephalopolysyndactyly Syndrome:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
3 hypertelorism 56 32 Frequent (79-30%) HP:0000316
4 agenesis of corpus callosum 56 32 Occasional (29-5%) HP:0001274
5 frontal bossing 56 32 Frequent (79-30%) HP:0002007
6 finger syndactyly 56 32 Frequent (79-30%) HP:0006101
7 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
8 wide nasal bridge 56 32 Frequent (79-30%) HP:0000431
9 umbilical hernia 56 32 Occasional (29-5%) HP:0001537
10 broad hallux phalanx 56 32 Occasional (29-5%) HP:0010059
11 broad thumb 56 32 Occasional (29-5%) HP:0011304
12 intellectual disability, mild 56 32 Occasional (29-5%) HP:0001256
13 telecanthus 56 32 Frequent (79-30%) HP:0000506
14 high forehead 56 32 Frequent (79-30%) HP:0000348
15 craniosynostosis 56 32 Occasional (29-5%) HP:0001363
16 preaxial hand polydactyly 56 32 Occasional (29-5%) HP:0001177
17 toe syndactyly 56 32 Frequent (79-30%) HP:0001770
18 postaxial hand polydactyly 56 32 Very frequent (99-80%) HP:0001162
19 postaxial foot polydactyly 56 32 Occasional (29-5%) HP:0001830
20 congenital diaphragmatic hernia 56 32 Occasional (29-5%) HP:0000776
21 accelerated skeletal maturation 56 32 Frequent (79-30%) HP:0005616
22 preaxial foot polydactyly 56 32 Very frequent (99-80%) HP:0001841
23 inguinal hernia 32 HP:0000023
24 dolichocephaly 32 HP:0000268
25 cryptorchidism 32 HP:0000028
26 hypospadias 32 HP:0000047
27 downslanted palpebral fissures 32 HP:0000494
28 abnormality of muscle fibers 32 HP:0004303
29 trigonocephaly 32 HP:0000243
30 abnormality of calvarial morphology 32 HP:0002648
31 delayed cranial suture closure 32 HP:0000270
32 hirsutism 32 HP:0001007
33 abnormal heart morphology 32 HP:0001627
34 camptodactyly of toe 32 HP:0001836
35 hyperglycemia 32 HP:0003074
36 joint contracture of the hand 32 HP:0009473
37 broad hallux 32 HP:0010055
38 metopic synostosis 32 HP:0011330
39 3-4 finger syndactyly 32 HP:0006097
40 1-3 toe syndactyly 32 HP:0001459

GenomeRNAi Phenotypes related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-5 8.8 GLI2 GLI3 PGAM2

Drugs & Therapeutics for Greig Cephalopolysyndactyly Syndrome

Drugs for Greig Cephalopolysyndactyly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404

Search NIH Clinical Center for Greig Cephalopolysyndactyly Syndrome

Cochrane evidence based reviews: greig cephalopolysyndactyly syndrome

Genetic Tests for Greig Cephalopolysyndactyly Syndrome

Genetic tests related to Greig Cephalopolysyndactyly Syndrome:

id Genetic test Affiliating Genes
1 Greig Cephalopolysyndactyly Syndrome 29 24 GLI3

Anatomical Context for Greig Cephalopolysyndactyly Syndrome

MalaCards organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

39
Skin, Eye, Heart, Bone

The Foundational Model of Anatomy Ontology organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

18
Limb, Head, Face

Publications for Greig Cephalopolysyndactyly Syndrome

Articles related to Greig Cephalopolysyndactyly Syndrome:

(show all 30)
id Title Authors Year
1
Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome. ( 25714367 )
2015
2
A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient. ( 25606469 )
2014
3
Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report. ( 25297527 )
2014
4
Crossed polydactyly and Greig cephalopolysyndactyly syndrome. ( 24222286 )
2013
5
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome. ( 22043488 )
2011
6
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. ( 21326280 )
2011
7
Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization. ( 19933491 )
2009
8
The Greig cephalopolysyndactyly syndrome. ( 18435847 )
2008
9
The clinical atlas of Greig cephalopolysyndactyly syndrome. ( 18241058 )
2008
10
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). ( 16829355 )
2006
11
Greig cephalopolysyndactyly syndrome in a family. ( 16927636 )
2006
12
Japanese family with Greig cephalopolysyndactyly syndrome, including bilateral seven toes, and esotropia, over three generations. ( 16912002 )
2006
13
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome. ( 12575660 )
2003
14
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. ( 12794692 )
2003
15
A Turkish family with Greig cephalopolysyndactyly syndrome. ( 10770668 )
1999
16
Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality. ( 9520255 )
1997
17
Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. ( 8985483 )
1996
18
Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region. ( 8001967 )
1994
19
Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature. ( 8205322 )
1994
20
Greig Cephalopolysyndactyly Syndrome ( 20301619 )
1993
21
A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. ( 8387379 )
1993
22
Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). ( 1322743 )
1992
23
A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with Greig cephalopolysyndactyly syndrome. ( 1662666 )
1991
24
Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). ( 3239570 )
1988
25
The occurrence of a fibro-osseous lesion and multiple dental anomalies in a patient with the Greig cephalopolysyndactyly syndrome. ( 2847100 )
1988
26
The Greig cephalopolysyndactyly syndrome. ( 3025136 )
1986
27
The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature. ( 3901752 )
1985
28
Greig cephalopolysyndactyly syndrome. Report of a sporadic case. ( 3007398 )
1985
29
The Greig cephalopolysyndactyly syndrome in a Canadian family. ( 6295159 )
1982
30
Greig cephalopolysyndactyly syndrome. ( 223435 )
1979

Variations for Greig Cephalopolysyndactyly Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 GLI3 p.Cys515Gly VAR_010053
2 GLI3 p.Cys520Tyr VAR_010054
3 GLI3 p.Pro707Ser VAR_010055 rs121917716
4 GLI3 p.Ile808Met VAR_010056 rs62622373
5 GLI3 p.Arg625Trp VAR_021481 rs121917712
6 GLI3 p.Ala934Pro VAR_021482 rs28933372

ClinVar genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GLI3 GLI3, DEL deletion Pathogenic
2 GLI3 NM_000168.5(GLI3): c.1627G> T (p.Glu543Ter) single nucleotide variant Pathogenic rs121917711 GRCh37 Chromosome 7, 42018218: 42018218
3 GLI3 NM_000168.5(GLI3): c.1873C> T (p.Arg625Trp) single nucleotide variant Pathogenic rs121917712 GRCh37 Chromosome 7, 42012166: 42012166
4 GLI3 NM_000168.5(GLI3): c.868C> T (p.Arg290Ter) single nucleotide variant Pathogenic rs121917713 GRCh37 Chromosome 7, 42079797: 42079797
5 GLI3 NM_000168.5(GLI3): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121917714 GRCh37 Chromosome 7, 42007251: 42007251
6 GLI3 NM_000168.5(GLI3): c.1486C> T (p.Gln496Ter) single nucleotide variant Pathogenic rs121917715 GRCh37 Chromosome 7, 42063078: 42063078
7 GLI3 NM_000168.5(GLI3): c.2119C> T (p.Pro707Ser) single nucleotide variant Pathogenic rs121917716 GRCh37 Chromosome 7, 42007506: 42007506
8 GLI3 GLI3, 4-BP DEL, 4542CCAC deletion Pathogenic
9 GLI3 GLI3, 1-BP DEL, 1018A deletion Pathogenic

Copy number variations for Greig Cephalopolysyndactyly Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 225048 7 41967072 42243321 Deletion GLI3 Greig cephalo-polysyndactyly syndrome
2 225147 7 43300000 46600000 Copy number GLI3 Greig cephalo-polysyndactyly syndrome

Expression for Greig Cephalopolysyndactyly Syndrome

Search GEO for disease gene expression data for Greig Cephalopolysyndactyly Syndrome.

Pathways for Greig Cephalopolysyndactyly Syndrome

GO Terms for Greig Cephalopolysyndactyly Syndrome

Cellular components related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.33 GLI2 GLI3 KIF7
2 axoneme GO:0005930 9.26 GLI2 GLI3
3 ciliary base GO:0097546 8.96 GLI2 GLI3
4 ciliary tip GO:0097542 8.8 GLI2 GLI3 KIF7

Biological processes related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

(show all 27)
id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.79 ACY1 GCK PGAM2
2 kidney development GO:0001822 9.63 GLI2 GLI3
3 lung development GO:0030324 9.63 GLI2 GLI3
4 anterior/posterior pattern specification GO:0009952 9.62 GLI2 GLI3
5 smoothened signaling pathway GO:0007224 9.61 GLI2 GLI3
6 embryonic digit morphogenesis GO:0042733 9.61 GLI2 GLI3
7 odontogenesis of dentin-containing tooth GO:0042475 9.6 GLI2 GLI3
8 pattern specification process GO:0007389 9.59 GLI2 GLI3
9 neural tube development GO:0021915 9.58 GLI2 GLI3
10 dorsal/ventral pattern formation GO:0009953 9.58 GLI2 GLI3
11 glycolytic process GO:0006096 9.57 GCK PGAM2
12 mammary gland development GO:0030879 9.56 GLI2 GLI3
13 developmental growth GO:0048589 9.55 GLI2 GLI3
14 branching morphogenesis of an epithelial tube GO:0048754 9.54 GLI2 GLI3
15 canonical glycolysis GO:0061621 9.52 GCK PGAM2
16 proximal/distal pattern formation GO:0009954 9.51 GLI2 GLI3
17 spinal cord motor neuron differentiation GO:0021522 9.49 GLI2 GLI3
18 negative regulation of smoothened signaling pathway GO:0045879 9.48 GLI3 KIF7
19 embryonic digestive tract development GO:0048566 9.46 GLI2 GLI3
20 anatomical structure formation involved in morphogenesis GO:0048646 9.43 GLI2 GLI3
21 anatomical structure development GO:0048856 9.4 GLI2 GLI3
22 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.37 GLI2 GLI3
23 spinal cord dorsal/ventral patterning GO:0021513 9.32 GLI2 GLI3
24 hindgut morphogenesis GO:0007442 9.26 GLI2 GLI3
25 tube development GO:0035295 9.16 GLI2 GLI3
26 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 8.96 GLI2 GLI3
27 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 8.62 GLI2 GLI3

Sources for Greig Cephalopolysyndactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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