Greig Cephalopolysyndactyly Syndrome malady

Genetics Home Reference: 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.¹⁷

MalaCards: Greig Cephalopolysyndactyly Syndrome, also known as cephalopolysyndactyly syndrome, is related to postaxial polydactyly type a and hypothalamic hamartomas, somatic. 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 CRHR Pathway. Affiliated tissues include limb, head and face.

Disease Ontology: 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.⁶

NIH Rare Diseases: 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.³⁰

Wikipedia: Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and...⁴⁴ more...

OMIM: 175700

GeneReviews summary for gcps

Aliases & Descriptions:

greig cephalopolysyndactyly syndrome 6 7 15 30 16 17 33 32 43 cephalopolysyndactyly syndrome 15 16 17 greig syndrome 30 16 polysyndactyly with peculiars skull shape 6

polysyndactyly with peculiar skull shape 30 aarskog syndrome 43 gcps 30

Diseases related to greig cephalopolysyndactyly syndrome by text searches and GeneDecks gene sharing:

(show all 27)

id	Related Disease	Score	Top Affiliating Genes
1	postaxial polydactyly type a	12.8	GLI3, GLI2
2	hypothalamic hamartomas, somatic	12.8	ACLS, GLI3
3	polydactyly, postaxial, types a1 and b	12.8	ACLS, GLI3
4	polydactyly preaxial type 4	12.7	ACLS, GLI3
5	acrocallosal syndrome	12.7	GLI3, ACLS
6	hypothalamic hamartomas	12.6	GLI3, ACLS
7	vacterl association	12.6	GLI3, GLI2
8	bannayan-riley-ruvalcaba syndrome	12.5	GLI3, ACLS
9	pallister-hall syndrome	12.4	ACLS, GLI3, GLI2
10	holoprosencephaly	12.3	GLI2, GLI3
11	polydactyly	12.2	GLI2, GLI3, ACLS
12	bilirubin metabolic disorder	11.4	GCK, ACY1, PGAM2
13	aarskog-scott syndrome	9.2
14	chromosome 7p deletion	7.6
15	crohn's disease	6.3
16	inflammatory bowel disease	6.3
17	hydrocephalus, costovertebral dysplasia, and sprengel anomaly	6.2
18	periodontitis	5.4
19	prostate cancer	5.4
20	prostatitis	5.4
21	sleep apnea	5.4
22	apnea	5.4
23	breast cancer	5.4
24	homocysteine	5.4
25	melanoma	5.4
26	neuronitis	5.4
27	periodontal disease	5.4

Clinical features from OMIM: 175700

Approved drugs:

Drug clinical trials:

Genetic tests related to greig cephalopolysyndactyly syndrome:

id	Genetic test	Affiliating Genes
1	Greig Cephalopolysyndactyly Syndrome clinical/research	GLI3, ACLS

MalaCards organs/tissues related to greig cephalopolysyndactyly syndrome:

²²

FMA organs/tissues related to greig cephalopolysyndactyly syndrome:

¹¹

Articles related to greig cephalopolysyndactyly syndrome:

(show all 12)

id	Title	Authors	Year	Affiliating Genes
1	MODY type 2 in Greig cephalopolysyndactyly syndrome ( GCPS) as part of a contiguous gene deletion syndrome. (22043488)	Zung A.... Ben-Yehoshua S.J.	2011	GCK
2	The clinical atlas of Greig cephalopolysyndactyly syndrome. (18241058)	Balk K.... Biesecker L.G.	2008	GLI3
3	The Greig cephalopolysyndactyly syndrome. (18435847)	Biesecker L.G.	2008	GLI3
4	Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). (16829355)	Schwarzbraun T.... Petek E.	2006	GCK
5	Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome. (12575660)	Driess S.... Kalff-Suske M.	2003	GLI3
6	Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. (12794692)	Debeer P.... Kalff-Suske M.	2003	GLI3
7	A Turkish family with Greig cephalopolysyndactyly syndrome. (10770668)	Boduroglu K.... Topcu M.	1999	GLI3
8	Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality. (9520255)	Williams P.G.... Kalff-Suske M.	1997	GLI3
9	Isolation of a yeast artificial chromosome contig spa nning the Greig cephalopolysyndactyly syndrome (GCPS) gene region. (8001967)	Vortkamp A.... Grzeschik K.H.	1994	GLI3
10	A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. (8387379)	Hui C.C.... Joyner A.L.	1993	GLI3
11	Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). (1322743)	Vortkamp A.... Grzeschik K.H.	1992	GLI3
12	A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with Greig cephalopolysyndactyly syndrome. (1662666)	Gemmill R.M.... Drabkin H.A.	1991	ACY1

Genes related to greig cephalopolysyndactyly syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	GLI3	GLI family zinc finger 3	11.1	Summaries, Aliases & Descriptions, Publications
2	GLI2	GLI family zinc finger 2	11.1	Summaries
3	ACLS	acrocallosal syndrome	11.0
4	ACY1	aminoacylase 1	11.0	Publications
5	PGAM2	phosphoglycerate mutase 2 (muscle)	11.0
6	GCK	glucokinase (hexokinase 4)	11.0	Publications

Pathways related to greig cephalopolysyndactyly syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Basal cell carcinoma20	9.6	GLI2, GLI3
2	CRHR Pathway36	9.6	GLI2, GLI3
3	Hedgehog signaling pathway20	9.5	GLI3, GLI2
4	Glycolysis and gluconeogenesis (short map)10	9.2	GCK, PGAM2
5	Glycolysis and gluconeogenesis (short map)41	9.2	GCK, PGAM2
6	Glycolysis / Gluconeogenesis20	8.8	GCK, PGAM2

Biological processes related to greig cephalopolysyndactyly syndrome according to GeneDecks:

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	smoothened signaling pathway involved in ventral spinal cord interneuron specification	GO:021775	9.8	GLI2, GLI3
2	hindgut morphogenesis	GO:007442	9.8	GLI2, GLI3
3	embryonic digestive tract development	GO:048566	9.8	GLI3, GLI2
4	proximal/distal pattern formation	GO:009954	9.8	GLI2, GLI3
5	developmental growth	GO:048589	9.7	GLI2, GLI3
6	smoothened signaling pathway	GO:007224	9.7	GLI3, GLI2
7	heart development	GO:007507	9.6	GLI2, GLI3
8	odontogenesis of dentin-containing tooth	GO:042475	9.5	GLI2, GLI3
9	lung development	GO:030324	9.3	GLI2, GLI3
10	glycolysis	GO:006096	9.1	GCK, PGAM2