GCPS
MCID: GRG001
MIFTS: 55

Greig Cephalopolysyndactyly Syndrome (GCPS) malady

Bone diseases, Fetal diseases categories

Summaries for Greig Cephalopolysyndactyly Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 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, developmental delay, and intellectual disability.

MalaCards: Greig Cephalopolysyndactyly Syndrome, also known as cephalopolysyndactyly syndrome, is related to polydactyly and acrocallosal syndrome, and has symptoms including postaxial polydactyly of toes/fifth supernumerary toe, broad/bifid big toe and diaphragmatic hernia/defect/agenesis. An important gene associated with Greig Cephalopolysyndactyly Syndrome is GLI3 (GLI family zinc finger 3), and among its related pathways are Basal cell carcinoma and Hedgehog signaling events mediated by Gli proteins. Affiliated tissues include limb, head and face.

Disease Ontology:8 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.

NIH Rare Diseases:42 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. greig cephalopolysyndactyly syndrome is caused by mutations in the gli3 gene. this condition is inherited in an autosomal dominant pattern. last updated: 4/8/2011

Wikipedia:63 Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and... more...

Description from OMIM:46 175700

GeneReviews summary for gcps

Aliases & Classifications for Greig Cephalopolysyndactyly Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
greig cephalopolysyndactyly syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

greig cephalopolysyndactyly syndrome 8 9 19 42 20 22 21 46 44 48 60
cephalopolysyndactyly syndrome 19 21
greig syndrome 42 21
gcps 42 48
polysyndactyly with peculiars skull shape 8
polysyndactyly with peculiar skull shape 42
greig cephalopolysyndactyly syndrome 21
aarskog syndrome 60


External Ids:

Disease Ontology8 DOID:14761
OMIM46 175700
MESH via Orphanet35 C537300
SNOMED-CT56 32985001
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet57 32985001
UMLS via Orphanet61 C0265306

Related Diseases for Greig Cephalopolysyndactyly Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Greig Cephalopolysyndactyly Syndrome:



Diseases related to greig cephalopolysyndactyly syndrome

Clinical Features for Greig Cephalopolysyndactyly Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

175700

Clinical synopsis from OMIM:

175700

Symptoms:

48 (show all 24)
  • postaxial polydactyly of toes/fifth supernumerary toe
  • broad/bifid big toe
  • diaphragmatic hernia/defect/agenesis
  • hydrocephaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • insterstitial/subtelomeric microdeletion/deletion
  • broad/bifid thumb
  • preaxial polydactyly (hand)
  • postaxial polydactyly (hand)
  • preaxial polydactyly of toes/big toe duplication
  • autosomal dominant inheritance
  • frontal bossing/prominent forehead
  • high forehead
  • hypertelorism
  • telecanthus/canthal dystopy
  • broad nose/nasal bridge
  • syndactyly of fingers/interdigital palm
  • syndactyly of toes
  • advanced bone age
  • craniostenosis/craniosynostosis/sutural synostosis
  • umbilical hernia
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Greig Cephalopolysyndactyly Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Greig Cephalopolysyndactyly Syndrome

Drug clinical trials:

Search ClinicalTrials for Greig Cephalopolysyndactyly Syndrome

Search NIH Clinical Center for Greig Cephalopolysyndactyly Syndrome

Search CenterWatch for Greig Cephalopolysyndactyly Syndrome

Genetic Tests for Greig Cephalopolysyndactyly Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Greig Cephalopolysyndactyly Syndrome:

id Genetic test Affiliating Genes
1 Greig Cephalopolysyndactyly Syndrome20 22 GLI3

Anatomical Context for Greig Cephalopolysyndactyly Syndrome

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32MalaCards, 14FMA
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MalaCards organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

32
Skin, Eye, Bone

FMA organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

14
Limb, Head, Face

Animal Models for Greig Cephalopolysyndactyly Syndrome or affiliated genes

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Publications for Greig Cephalopolysyndactyly Syndrome

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50PubMed
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Articles related to Greig Cephalopolysyndactyly Syndrome:

(show all 30)
idTitleAuthorsYear
1
Crossed polydactyly and Greig cephalopolysyndactyly syndrome. (24222286)
2013
2
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. (21326280)
2011
3
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome. (22043488)
2011
4
Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization. (19933491)
2009
5
The clinical atlas of Greig cephalopolysyndactyly syndrome. (18241058)
2008
6
The Greig cephalopolysyndactyly syndrome. (18435847)
2008
7
A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. (18154020)
2007
8
Greig cephalopolysyndactyly syndrome in a family. (16927636)
2006
9
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). (16829355)
2006
10
Japanese family with Greig cephalopolysyndactyly syndrome, including bilateral seven toes, and esotropia, over three generations. (16912002)
2006
11
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. (15739154)
2005
12
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. (14608643)
2003
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
Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature. (8205322)
1994
19
Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region. (8001967)
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
Greig cephalopolysyndactyly syndrome. Report of a sporadic case. (3007398)
1985
28
The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature. (3901752)
1985
29
The Greig cephalopolysyndactyly syndrome in a Canadian family. (6295159)
1982
30
Greig cephalopolysyndactyly syndrome. (223435)
1979

Genetic Variations for Greig Cephalopolysyndactyly Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

62
id Symbol AA change Variation ID SNP ID
1GLI3p.Cys515GlyVAR_010053
2GLI3p.Cys520TyrVAR_010054
3GLI3p.Pro707SerVAR_010055
4GLI3p.Ile808MetVAR_010056rs62622373
5GLI3p.Arg625TrpVAR_021481
6GLI3p.Ala934ProVAR_021482rs28933372

Expression for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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

Pathways for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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29KEGG, 37NCBI BioSystems Database, 59Tocris Bioscience, 12EMD Millipore
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Compounds for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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GO Terms for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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16Gene Ontology
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Cellular components related to Greig Cephalopolysyndactyly Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear speckGO:0166079.6GLI3, GLI2

Biological processes related to Greig Cephalopolysyndactyly Syndrome according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:0217759.9GLI3, GLI2
2smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:0217769.9GLI3, GLI2
3hindgut morphogenesisGO:0074429.9GLI3, GLI2
4smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:0608319.8GLI2, GLI3
5embryonic digestive tract developmentGO:0485669.8GLI3, GLI2
6proximal/distal pattern formationGO:0099549.8GLI3, GLI2
7developmental growthGO:0485899.8GLI2, GLI3
8embryonic digit morphogenesisGO:0427339.7GLI3, GLI2
9smoothened signaling pathwayGO:0072249.6GLI2, GLI3
10heart developmentGO:0075079.6GLI3, GLI2
11odontogenesis of dentin-containing toothGO:0424759.5GLI3, GLI2
12lung developmentGO:0303249.3GLI3, GLI2
13glycolysisGO:0060969.1PGAM2, GCK

Products for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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Sources for Greig Cephalopolysyndactyly Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet