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Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Also Known As:

SMDCRD

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hereditary Spastic Paraplegia
2.	Short Rib-Polydactyly Syndrome
3.	Cerebellar Ataxia and Hypogonadotropic Hypogonadism

Experts

1.	Almeida, Ligia: 1 article (01/2015)
2.	Bosboom, Dennis: 1 article (01/2015)
3.	Espeel, Marc: 1 article (01/2015)
4.	Reimer, Annette: 1 article (01/2015)
5.	Roels, Frank: 1 article (01/2015)
6.	Wevers, Ron A: 1 article (01/2015)
7.	Wortmann, Saskia B: 1 article (01/2015)
8.	de Brouwer, Arjan P M: 1 article (01/2015)
9.	Blout, Carrie: 1 article (01/2014)
10.	Cho, Sung Yoon: 1 article (01/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy:

1.	Phosphatidylcholines (Phosphatidylcholine)IBA 01/02/2014 - "Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy."
2.	tacrolimus binding protein 4 (FKBP52)IBA 01/01/2015 - "Boucher-Neuhäuser/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 and 56 (HSP28, DDHD1; HSP54, DDHD2; HSP56, CYP2U1), Lenz Majewski syndrome (PTDSS1), spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A), atypical haemolytic-uremic syndrome due to DGKE deficiency (DGKE). "