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Lethal Arthrogryposis With Anterior Horn Cell Disease

aka LAAHD; mutations in GLE1

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

Disease Context: Research Results

Related Diseases

1.	Motor Neuron Disease (Primary Lateral Sclerosis)
2.	Lethal congenital contracture syndrome 1
3.	Arthrogryposis

Experts

1.	Fahiminiya, S: 1 article (01/2018)
2.	Hinttala, R: 1 article (01/2018)
3.	Ignatius, J: 1 article (01/2018)
4.	Kokkonen, H: 1 article (01/2018)
5.	Majewski, J: 1 article (01/2018)
6.	Moilanen, J S: 1 article (01/2018)
7.	Paakkola, T: 1 article (01/2018)
8.	Uusimaa, J: 1 article (01/2018)
9.	Valkama, M: 1 article (01/2018)
10.	Vuopala, K: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Lethal Arthrogryposis With Anterior Horn Cell Disease:

1.	RNA (Ribonucleic Acid)IBA 01/01/2018 - "Mutations in GLE1, RNA export mediator (GLE1) gene have previously been shown to cause motor neuron diseases such as lethal congenital contracture syndrome 1 (LCCS1) and lethal arthrogryposis with anterior horn cell disease (LAAHD), including arthrogryposis, fetal akinesis and motor neuron loss as common clinical features. "
2.	Proteins (Proteins, Gene)FDA Link 03/01/2015 - "Lethal congenital contracture syndrome 1 and lethal arthrogryposis with anterior horn cell disease are autosomal recessive fetal motor neuron diseases that are caused by mutations in another global RNA-processing protein, hGle1. "