GCPS
MCID: GRG001
MIFTS: 53

Greig Cephalopolysyndactyly Syndrome (GCPS) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Greig Cephalopolysyndactyly Syndrome

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 esotropia, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, craniostenosis/craniosynostosis/sutural synostosis and high forehead. An important gene associated with Greig Cephalopolysyndactyly Syndrome is GLI3 (GLI family zinc finger 3), and among its related pathways are G-Beta Gamma Signaling and Basal cell carcinoma. The compound fatty acid have been mentioned in the context of this disorder. Affiliated tissues include limb, head and face, and related mouse phenotype endocrine/exocrine gland.

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:43 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:65 Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and... more...

Description from OMIM:47 175700

GeneReviews summary for gcps

Aliases & Classifications for Greig Cephalopolysyndactyly Syndrome

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62UMLS, 8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 58SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
greig cephalopolysyndactyly syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

greig cephalopolysyndactyly syndrome 8 9 19 43 20 22 21 47 45 49 62
cephalopolysyndactyly syndrome 19 21
greig syndrome 43 21
gcps 43 49
polysyndactyly with peculiars skull shape 8
polysyndactyly with peculiar skull shape 43
greig cephalopolysyndactyly syndrome 21
aarskog syndrome 62


External Ids:

Disease Ontology8 DOID:14761
OMIM47 175700
MESH via Orphanet36 C537300
SNOMED-CT58 32985001
ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet59 32985001
UMLS via Orphanet63 C0265306

Related Diseases for Greig Cephalopolysyndactyly Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Greig Cephalopolysyndactyly Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly30.5GLI3, GLI2
2esotropia10.3
3synostosis10.3
4hfe-associated hereditary hemochromatosis10.3
5chromosome 7p deletion10.3
6acrocallosal syndrome10.2
7pallister-hall syndrome10.1GLI3
8crohn's disease10.0
9morphine dependence10.0
10neuronitis10.0
11breast cancer10.0
12prostate cancer10.0
13prostatitis10.0
14glioblastoma multiforme10.0GLI3, GLI2
15holoprosencephaly10.0GLI3, GLI2

Graphical network of diseases related to Greig Cephalopolysyndactyly Syndrome:



Diseases related to greig cephalopolysyndactyly syndrome

Symptoms for Greig Cephalopolysyndactyly Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

175700

Clinical features from OMIM:

175700

Symptoms:

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

Drugs & Therapeutics for Greig Cephalopolysyndactyly Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Greig Cephalopolysyndactyly Syndrome

Search NIH Clinical Center 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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33MalaCards, 14FMA
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MalaCards organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

33
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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37MGI
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MGI Mouse Phenotypes related to Greig Cephalopolysyndactyly Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.8GCK, GLI2, GLI3

Publications for Greig Cephalopolysyndactyly Syndrome

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52PubMed
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Articles related to Greig Cephalopolysyndactyly Syndrome:

(show all 27)
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
Greig cephalopolysyndactyly syndrome in a family. (16927636)
2006
8
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). (16829355)
2006
9
Japanese family with Greig cephalopolysyndactyly syndrome, including bilateral seven toes, and esotropia, over three generations. (16912002)
2006
10
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome. (12575660)
2003
11
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. (12794692)
2003
12
A Turkish family with Greig cephalopolysyndactyly syndrome. (10770668)
1999
13
Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality. (9520255)
1997
14
Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. (8985483)
1996
15
Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature. (8205322)
1994
16
Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region. (8001967)
1994
17
Greig Cephalopolysyndactyly Syndrome (20301619)
1993
18
A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. (8387379)
1993
19
Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). (1322743)
1992
20
A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with Greig cephalopolysyndactyly syndrome. (1662666)
1991
21
Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). (3239570)
1988
22
The occurrence of a fibro-osseous lesion and multiple dental anomalies in a patient with the Greig cephalopolysyndactyly syndrome. (2847100)
1988
23
The Greig cephalopolysyndactyly syndrome. (3025136)
1986
24
Greig cephalopolysyndactyly syndrome. Report of a sporadic case. (3007398)
1985
25
The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature. (3901752)
1985
26
The Greig cephalopolysyndactyly syndrome in a Canadian family. (6295159)
1982
27
Greig cephalopolysyndactyly syndrome. (223435)
1979

Variations for Greig Cephalopolysyndactyly Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

64
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

Clinvar genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1FGD1NM_004463.2(FGD1): c.1829G> A (p.Arg610Gln)single nucleotide variantPathogenicrs28935497GRCh37Chr X, 54482666: 54482666
2FGD1NM_004463.2(FGD1): c.1565G> A (p.Arg522His)single nucleotide variantPathogenicrs137853264GRCh37Chr X, 54491955: 54491955
3FGD1NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln)single nucleotide variantPathogenicrs137853265GRCh37Chr X, 54494334: 54494334
4FGD1NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu)single nucleotide variantPathogenicrs137853266GRCh37Chr X, 54494229: 54494229
5FGD1NM_004463.2(FGD1): c.1396A> G (p.Met466Val)single nucleotide variantPathogenicrs137853267GRCh37Chr X, 54492230: 54492230
6GLI3GLI3, DELdeletionPathogenic
7GLI3NM_000168.5(GLI3): c.1627G> T (p.Glu543Ter)single nucleotide variantPathogenicrs121917711GRCh37Chr 7, 42018218: 42018218
8GLI3NM_000168.5(GLI3): c.1873C> T (p.Arg625Trp)single nucleotide variantPathogenicrs121917712GRCh37Chr 7, 42012166: 42012166
9GLI3NM_000168.5(GLI3): c.868C> T (p.Arg290Ter)single nucleotide variantPathogenicrs121917713GRCh37Chr 7, 42079797: 42079797
10GLI3NM_000168.5(GLI3): c.2374C> T (p.Arg792Ter)single nucleotide variantPathogenicrs121917714GRCh37Chr 7, 42007251: 42007251
11GLI3NM_000168.5(GLI3): c.1486C> T (p.Gln496Ter)single nucleotide variantPathogenicrs121917715GRCh37Chr 7, 42063078: 42063078
12GLI3NM_000168.5(GLI3): c.2119C> T (p.Pro707Ser)single nucleotide variantPathogenicrs121917716GRCh37Chr 7, 42007506: 42007506
13GLI3GLI3, 4-BP DEL, 4542CCACdeletionPathogenic
14GLI3GLI3, 1-BP DEL, 1018AdeletionPathogenic
15FGD1NM_004463.2(FGD1): c.1966C> T (p.Arg656Ter)single nucleotide variantPathogenicrs387906718GRCh37Chr X, 54481930: 54481930

Expression for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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2BioGPS, 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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50PathCards, 53QIAGEN, 30KEGG, 38NCBI BioSystems Database, 61Tocris Bioscience, 51PharmGKB
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Pathways related to Greig Cephalopolysyndactyly Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3GLI2, GLI3
2
Show member pathways
9.3GLI3, GLI2
3
Show member pathways
9.3GLI2, GLI3
49.3GLI2, GLI3
59.3GLI2, GLI3
6
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.1GCK, ACY1

Compounds for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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45Novoseek
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Compounds related to Greig Cephalopolysyndactyly Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1fatty acid459.1GCK, ACY1

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:0166079.3GLI2, GLI3

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:0217759.6GLI2, GLI3
2smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:0217769.6GLI2, GLI3
3hindgut morphogenesisGO:0074429.6GLI2, GLI3
4smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:0608319.6GLI3, GLI2
5embryonic digestive tract developmentGO:0485669.6GLI2, GLI3
6proximal/distal pattern formationGO:0099549.5GLI2, GLI3
7developmental growthGO:0485899.5GLI2, GLI3
8embryonic digit morphogenesisGO:0427339.5GLI3, GLI2
9smoothened signaling pathwayGO:0072249.4GLI2, GLI3
10odontogenesis of dentin-containing toothGO:0424759.4GLI2, GLI3
11lung developmentGO:0303249.3GLI3, GLI2
12axon guidanceGO:0074119.3GLI2, GLI3
13heart developmentGO:0075079.2GLI2, GLI3
14in utero embryonic developmentGO:0017019.0GLI2, GLI3

Molecular functions related to Greig Cephalopolysyndactyly Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036829.3GLI2, GLI3

Products for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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Sources for Greig Cephalopolysyndactyly Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet