Mesomelic Dysplasia malady

MalaCards: Mesomelic Dysplasia is related to langer mesomelic dysplasia and mesomelic dysplasia kantaputra type. An important gene associated with Mesomelic Dysplasia is MMDK (Mesomelic dysplasia, Kantaputra type).

mesomelic dysplasia 7 43

Diseases related to mesomelic dysplasia by text searches and GeneDecks gene sharing:

(show all 23)

id	Related Disease	Score	Top Affiliating Genes
1	langer mesomelic dysplasia	33.6	SHOX, COMP
2	mesomelic dysplasia kantaputra type	32.1	SHOX, MMDK
3	chst3-related skeletal dysplasia	12.3	COMP, SHOX
4	achondroplasia	12.2	SHOX, COMP
5	dwarfism	12.2	COMP, SHOX
6	chondrodysplasia	12.1	COMP, SHOX
7	hypertrophy of breast	12.1	COMP, SHOX
8	short stature	12.0	SHOX, COMP
9	boomerang dysplasia	11.8	COMP, SHOX
10	mesomelic dysplasia savarirayan type	8.1
11	acro coxo mesomelic dysplasia	7.8
12	mesomelic dysplasia skin dimples	7.8
13	mesomelic dysplasia, kozlowski-reardon type	7.8
14	mesomelic dysplasia, nievergelt type	7.8
15	mesomelic dysplasia, werner type	7.8
16	fibular hypoplasia	7.2
17	ulna and fibula, hypoplasia of	7.2
18	fryns hofkens fabry syndrome	6.3
19	langer mesomelic dwarfism	6.3
20	mesomelic dwarfism cleft palate camptodactyly	6.3
21	mesomelic dwarfism of hypoplastic tibia and radius type	6.3
22	robinow syndrome	6.3
23	turner syndrome	6.3

Approved drugs:

Drug clinical trials:

Articles related to mesomelic dysplasia:

id	Title	Authors	Year	Affiliating Genes
1	Effect of growth hormone therapy on severe short stat ure and skeletal deformities in a patient with combined Turner syndrome and Lan ger mesomelic dysplasia. (19850687)	Shah B.C.... Pappas J.G.	2009	SHOX
2	The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. (17935511)	Bertorelli R.... Forabosco A.	2007	SHOX
3	Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD). (17394206)	Campos-Barros A.... Heath K.E.	2007	COMP
4	Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. (15264287)	Kwee M.L.... Gille J.J.	2004	SHOX
5	Complete SHOX deficiency causes Langer mesomelic dysplasia. (12116254)	Zinn A.R.... Ross J.L.	2002	SHOX
6	Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia. (11186941)	Robertson S.P.... Savarirayan R.	2000	SHOX
7	The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32. (9609995)	Fujimoto M.... Niikawa N.	1998	MMDK

Genes related to mesomelic dysplasia according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	MMDK	Mesomelic dysplasia, Kantaputra type	11.1	Publications, Aliases & Descriptions
2	SHOX	short stature homeobox	11.0	Publications
3	COMP	cartilage oligomeric matrix protein	11.0	Publications

Biological processes related to mesomelic dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	skeletal system development	GO:001501	9.1	COMP, SHOX