MCID: GRG001
MIFTS: 49

Greig Cephalopolysyndactyly Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Greig Cephalopolysyndactyly Syndrome

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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 based summary: Greig Cephalopolysyndactyly Syndrome, also known as greig cephalopolysyndactyly syndrome, is related to polydactyly and esotropia, and has symptoms including 1-3 toe syndactyly, macrocephaly and postaxial hand polydactyly. 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:9 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:41 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

OMIM:45 Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated... (175700) more...

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

GeneReviews summary for gcps

Aliases & Classifications for Greig Cephalopolysyndactyly Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 61UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Greig Cephalopolysyndactyly Syndrome, Aliases & Descriptions:

Name: Greig Cephalopolysyndactyly Syndrome 45 9 10 19 41 20 21 43 47
Greig Cephalopolysyndactyly Syndrome 21 22
Cephalopolysyndactyly Syndrome 19 21
Greig Syndrome 41 21
 
Gcps 41 47
Polysyndactyly with Peculiars Skull Shape 9
Polysyndactyly with Peculiar Skull Shape 41
Aarskog Syndrome 60


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
greig cephalopolysyndactyly syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal


External Ids:

OMIM45 175700
Disease Ontology9 DOID:14761
Orphanet47 380
SNOMED-CT55 32985001
UMLS via Orphanet61 C0265306
MESH via Orphanet34 C537300
ICD10 via Orphanet26 Q87.0

Related Diseases for Greig Cephalopolysyndactyly Syndrome

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Diseases related to Greig Cephalopolysyndactyly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly30.3GLI3, GLI2
2esotropia10.4
3synostosis10.4
4chromosome 7p deletion10.4
5acrocallosal syndrome10.3
6pallister-hall syndrome10.2GLI3
7prostate cancer10.0
8breast cancer10.0
9crohn's disease10.0
10morphine dependence10.0
11neuronitis10.0
12prostatitis10.0
13glioblastoma10.0GLI3, GLI2
14holoprosencephaly9.9GLI3, 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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Symptoms by clinical synopsis from OMIM:

175700

Clinical features from OMIM:

175700

Symptoms:

 47 (show all 24)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • 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
  • preaxial polydactyly (hand)
  • broad/bifid thumb
  • 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

HPO human phenotypes related to Greig Cephalopolysyndactyly Syndrome:

(show all 54)
id Description Frequency HPO Source Accession
1 1-3 toe syndactyly hallmark (90%) HP:0001459
2 macrocephaly hallmark (90%) HP:0000256
3 postaxial hand polydactyly hallmark (90%) HP:0001162
4 preaxial foot polydactyly hallmark (90%) HP:0001841
5 broad hallux 89% HP:0010055
6 wide nasal bridge 79% HP:0000431
7 postaxial hand polydactyly 78% HP:0001162
8 high forehead 70% HP:0000348
9 frontal bossing 58% HP:0002007
10 macrocephaly 53% HP:0000256
11 hypertelorism typical (50%) HP:0000316
12 preaxial foot polydactyly typical (50%) HP:0001841
13 high forehead typical (50%) HP:0000348
14 abnormality of the nose typical (50%) HP:0000366
15 telecanthus typical (50%) HP:0000506
16 toe syndactyly typical (50%) HP:0001770
17 frontal bossing typical (50%) HP:0002007
18 accelerated skeletal maturation typical (50%) HP:0005616
19 finger syndactyly typical (50%) HP:0006101
20 3-4 finger syndactyly frequent (33%) HP:0006097
21 broad hallux phalanx frequent (33%) HP:0010059
22 broad thumb frequent (33%) HP:0011304
23 inguinal hernia occasional (7.5%) HP:0000023
24 cryptorchidism occasional (7.5%) HP:0000028
25 hypospadias occasional (7.5%) HP:0000047
26 hydrocephalus occasional (7.5%) HP:0000238
27 delayed cranial suture closure occasional (7.5%) HP:0000270
28 downslanted palpebral fissures occasional (7.5%) HP:0000494
29 hirsutism occasional (7.5%) HP:0001007
30 preaxial hand polydactyly occasional (7.5%) HP:0001177
31 seizures occasional (7.5%) HP:0001250
32 intellectual disability, mild occasional (7.5%) HP:0001256
33 agenesis of corpus callosum occasional (7.5%) HP:0001274
34 craniosynostosis occasional (7.5%) HP:0001363
35 umbilical hernia occasional (7.5%) HP:0001537
36 abnormality of cardiac morphology occasional (7.5%) HP:0001627
37 camptodactyly of toe occasional (7.5%) HP:0001836
38 abnormality of calvarial morphology occasional (7.5%) HP:0002648
39 hyperglycemia occasional (7.5%) HP:0003074
40 abnormality of muscle fibers occasional (7.5%) HP:0004303
41 accelerated skeletal maturation occasional (7.5%) HP:0005616
42 joint contracture of the hand occasional (7.5%) HP:0009473
43 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
44 postaxial foot polydactyly occasional (7.5%) HP:0001830
45 preaxial foot polydactyly occasional (7.5%) HP:0001841
46 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
47 abnormality of thumb phalanx occasional (7.5%) HP:0009602
48 cognitive impairment occasional (7.5%) HP:0100543
49 postaxial foot polydactyly rare (5%) HP:0001830
50 metopic synostosis rare (5%) HP:0011330
51 autosomal dominant inheritance HP:0000006
52 trigonocephaly HP:0000243
53 dolichocephaly HP:0000268
54 variable expressivity HP:0003828

Drugs & Therapeutics for Greig Cephalopolysyndactyly Syndrome

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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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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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MalaCards organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

31
Eye, Skin, 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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MGI Mouse Phenotypes related to Greig Cephalopolysyndactyly Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.8GCK, GLI2, GLI3

Publications for Greig Cephalopolysyndactyly Syndrome

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Articles related to Greig Cephalopolysyndactyly Syndrome:

(show all 30)
idTitleAuthorsYear
1
Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome. (25714367)
2015
2
Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report. (25297527)
2014
3
A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient. (25606469)
2014
4
Crossed polydactyly and Greig cephalopolysyndactyly syndrome. (24222286)
2013
5
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. (21326280)
2011
6
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome. (22043488)
2011
7
Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization. (19933491)
2009
8
The clinical atlas of Greig cephalopolysyndactyly syndrome. (18241058)
2008
9
The Greig cephalopolysyndactyly syndrome. (18435847)
2008
10
Greig cephalopolysyndactyly syndrome in a family. (16927636)
2006
11
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). (16829355)
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
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

Variations for Greig Cephalopolysyndactyly Syndrome

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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GLI3GLI3, DELdeletionPathogenic
2GLI3NM_000168.5(GLI3): c.1627G> T (p.Glu543Ter)single nucleotide variantPathogenicrs121917711GRCh37Chr 7, 42018218: 42018218
3GLI3NM_000168.5(GLI3): c.1873C> T (p.Arg625Trp)single nucleotide variantPathogenicrs121917712GRCh37Chr 7, 42012166: 42012166
4GLI3NM_000168.5(GLI3): c.868C> T (p.Arg290Ter)single nucleotide variantPathogenicrs121917713GRCh37Chr 7, 42079797: 42079797
5GLI3NM_000168.5(GLI3): c.2374C> T (p.Arg792Ter)single nucleotide variantPathogenicrs121917714GRCh37Chr 7, 42007251: 42007251
6GLI3NM_000168.5(GLI3): c.1486C> T (p.Gln496Ter)single nucleotide variantPathogenicrs121917715GRCh37Chr 7, 42063078: 42063078
7GLI3NM_000168.5(GLI3): c.2119C> T (p.Pro707Ser)single nucleotide variantPathogenicrs121917716GRCh37Chr 7, 42007506: 42007506
8GLI3GLI3, 4-BP DEL, 4542CCACdeletionPathogenic
9GLI3GLI3, 1-BP DEL, 1018AdeletionPathogenic

Expression for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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

Pathways for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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Pathways related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

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 degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.1GCK, ACY1

Compounds for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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Sources:
43Novoseek
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Compounds related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1fatty acid439.1GCK, ACY1

GO Terms for genes affiliated with Greig Cephalopolysyndactyly Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1nuclear speckGO:00166079.3GLI2, GLI3

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:00217769.6GLI2, GLI3
2smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:00217759.6GLI3, GLI2
3hindgut morphogenesisGO:00074429.6GLI2, GLI3
4smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:00608319.6GLI2, GLI3
5embryonic digestive tract developmentGO:00485669.6GLI3, GLI2
6proximal/distal pattern formationGO:00099549.5GLI2, GLI3
7developmental growthGO:00485899.5GLI3, GLI2
8embryonic digit morphogenesisGO:00427339.5GLI3, GLI2
9smoothened signaling pathwayGO:00072249.4GLI2, GLI3
10odontogenesis of dentin-containing toothGO:00424759.4GLI3, GLI2
11lung developmentGO:00303249.3GLI2, GLI3
12axon guidanceGO:00074119.3GLI2, GLI3
13heart developmentGO:00075079.2GLI2, GLI3
14in utero embryonic developmentGO:00017019.0GLI3, GLI2

Molecular functions related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00036829.3GLI2, GLI3

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet