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Martsolf syndrome

Also Known As:

Cataract, mental retardation, hypogonadism; Cataract-Mental Retardation-Hypogonadism

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Intellectual Disability (Idiocy)
2.	Warburg Sjo Fledelius syndrome
3.	Hypopigmentation (Hypomelanosis)
4.	Choroideremia
5.	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)

Experts

1.	Corbeel, Lucien: 1 article (07/2008)
2.	Freson, Kathleen: 1 article (07/2008)
3.	Miyoshi, Jun: 1 article (01/2008)
4.	Sakane, Ayuko: 1 article (01/2008)
5.	Sasaki, Takuya: 1 article (01/2008)
6.	Takai, Yoshimi: 1 article (01/2008)
7.	Adams, Gill: 1 article (04/2006)
8.	Aligianis, Irene A: 1 article (04/2006)
9.	Hennekam, Raoul C: 1 article (04/2006)
10.	Johnson, Colin A: 1 article (04/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Martsolf syndrome:

1.	GTPase-Activating Proteins (GTPase-Activating Protein)IBA 01/01/2008 - "Analysis on the emerging role of Rab3 GTPase-activating protein in Warburg Micro and Martsolf syndrome." 04/01/2006 - "Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome." 01/01/2008 - "Recently mutations in the catalytic subunit p130 and the noncatalytic subunit p150 of Rab3 GTPase-activating protein were found to cause Warburg Micro syndrome and Martsolf syndrome, respectively, both of which exhibit mental retardation. "
2.	Proteins (Proteins, Gene)FDA Link 07/01/2008 - "Although the clinical phenotype in these monogenic inherited diseases is highly variable and dependent on the type of tissue in which the defective Rab or its associated protein is expressed, frequent features are hypopigmentation (Griscelli syndrome), eye defects (Choroideremia, Warburg Micro syndrome and Martsolf syndrome), disturbed immune function (Griscelli syndrome and Charcot-Marie-Tooth disease) and neurological dysfunction (X-linked non-specific mental retardation, Charcot-Marie-Tooth disease, Warburg Micro syndrome and Martsolf syndrome). "