Meier-gorlin Syndrome malady

NIH Rare Diseases: Meier-Gorlin syndrome is a condition that affects many parts of the body. This disorder is characterized by small ears, absent patellae (kneecaps), and short stature. There are several types of Meier-Gorlin syndrome, each classified by the specific genes affected. This condition has an autosomal recessive pattern of inheritance.³⁰

MalaCards: Meier-gorlin Syndrome, also known as ear, patella, short stature syndrome, is related to dwarfism and short stature. An important gene associated with Meier-gorlin Syndrome is ORC6 (origin recognition complex, subunit 6), and among its related pathways are Cell cycle Role of APC in cell cycle regulation and Cell Cycle Control of Chromosomal Replication.

meier-gorlin syndrome 30 16 ear, patella, short stature syndrome 30 16 43

microtia, absent patellae, micrognathia syndrome 30

Disease types for meier-gorlin syndrome family:

meier-gorlin syndrome 1	meier-gorlin syndrome 2
meier-gorlin syndrome 3	meier-gorlin syndrome 4
meier-gorlin syndrome 5

Diseases related to meier-gorlin syndrome by text searches and GeneDecks gene sharing:

(show all 13)

id	Related Disease	Score	Top Affiliating Genes
1	dwarfism	27.3	ORC6, ORC1, ORC4, SHOX, CDC6, CDT1
2	short stature	25.5	LMX1B, BMP5, CDT1, CDC6, SHOX, ORC4
3	boomerang dysplasia	11.8	LMX1B, CDC6, SHOX
4	intrauterine and postnatal growth retardation	11.3	ORC6, ORC1, ORC4, CDC6, CDT1
5	microcephaly	11.2	ORC6, ORC1, ORC4, CDC6, CDT1
6	cleft palate	11.0	ORC6, ORC1, ORC4, CDC6, CDT1
7	microtia	10.6	BMP5, CDT1, CDC6, ORC4, ORC1, ORC6
8	meier-gorlin syndrome 1	8.4
9	meier-gorlin syndrome 2	8.4
10	meier-gorlin syndrome 3	8.4
11	meier-gorlin syndrome 4	8.4
12	meier-gorlin syndrome 5	8.4
13	primary autosomal recessive microcephaly and microcephalic dwarfism multi-gene panels	7.5

Approved drugs:

Drug clinical trials:

Genetic tests related to meier-gorlin syndrome:

id	Genetic test	Affiliating Genes
1	Meier-gorlin Syndrome clinical/research

Articles related to meier-gorlin syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. (21358633)	Bicknell L.S.... Jeggo P.A.	2011	ORC1
2	Mutations in the pre-replication complex cause Meier-Gorlin syndrome. (21358632)	Bicknell L.S.... Jackson A.P.	2011	CDC6, CDT1, ORC1
3	Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. (21358631)	Guernsey D.L.... Samuels M.E.	2011	CDT1, ORC1, ORC4
4	Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. (11807867)	Cohen A.... Camera G.	2002	BMP5, LMX1B, SHOX

Genes related to meier-gorlin syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ORC6	origin recognition complex, subunit 6	11.0	Publications
2	ORC1	origin recognition complex, subunit 1	11.0	Publications
3	CDT1	chromatin licensing and DNA replication factor 1	11.0	Publications
4	SHOX	short stature homeobox	11.0	Publications
5	ORC4	origin recognition complex, subunit 4	11.0	Publications
6	CDC6	cell division cycle 6 homolog (S. cerevisiae)	11.0	Publications
7	LMX1B	LIM homeobox transcription factor 1, beta	11.0	Publications
8	BMP5	bone morphogenetic protein 5	11.0	Publications

Pathways related to meier-gorlin syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Cell cycle Role of APC in cell cycle regulation10	9.5	ORC1, CDC6
2	Cell Cycle Control of Chromosomal Replication36	9.3	CDC6, CDT1
3	Cell cycle_Role of APC in cell cycle regulation41	9.2	ORC1, CDC6
4	Association of licensing factors with the pre-replicative complex38	8.8	ORC1, ORC4, CDC6, CDT1
5	Cell Cycle / Checkpoint Control3	8.7	CDT1, CDC6, ORC1, ORC6
6	Cell cycle20	8.7	ORC6, ORC1, ORC4, CDC6
7	Cell cycle_Start of DNA replication in early S phase41	8.4	CDT1, CDC6, ORC4, ORC1, ORC6
8	Cell cycle Start of DNA replication in early S phase10	8.4	CDT1, CDC6, ORC4, ORC1, ORC6
9	Meiosis10	8.3	CDT1, CDC6, ORC4, ORC1, ORC6

Cellular components related to meier-gorlin syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	origin recognition complex	GO:000808	9.1	ORC4, ORC1, ORC6
2	nuclear origin of replication recognition complex	GO:005664	8.9	ORC1, ORC4, ORC6
3	nucleoplasm	GO:005654	8.2	ORC1, ORC6, CDC6, CDT1, ORC4

Biological processes related to meier-gorlin syndrome according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	DNA-dependent DNA replication initiation	GO:006270	9.6	ORC4, ORC1
2	DNA replication checkpoint	GO:000076	9.1	CDC6, CDT1
3	regulation of transcription involved in G1/S phase of mitotic cell cycle	GO:000083	9.1	CDT1, CDC6, ORC1
4	cell cycle checkpoint	GO:000075	8.5	CDC6, ORC6, ORC1, ORC4
5	M/G1 transition of mitotic cell cycle	GO:000216	8.4	CDC6, ORC6, ORC1, ORC4, CDT1
6	S phase of mitotic cell cycle	GO:000084	8.4	ORC6, ORC1, ORC4, CDC6, CDT1
7	DNA replication	GO:006260	8.3	ORC4, CDT1, CDC6, ORC6, ORC1
8	mitotic cell cycle	GO:000278	8.3	ORC4, CDC6, CDT1, ORC1, ORC6

Molecular functions related to meier-gorlin syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nucleoside-triphosphatase activity	GO:017111	8.7	ORC1, ORC4, CDC6
2	protein binding	GO:005515	6.9	ORC6, ORC1, ORC4, SHOX, CDC6, CDT1