Partington X-linked mental retardation syndrome

Also Known As:

Mental Retardation, X-Linked 36; Mental retardation, X-linked, syndromic 1; Mental retardation, X-linked, with dystonic movements, ataxia, and seizures; Mental retardation-dystonic movements-ataxia-seizures syndrome; Partington syndrome

Networked: 3 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Seizures: 41747
      - Partington X-linked mental retardation syndrome: 3
    - Dyskinesias: 7807
      - Ataxia: 6364
        Partington X-linked mental retardation syndrome: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - X-Linked Mental Retardation: 272
      - Partington X-linked mental retardation syndrome: 3
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 272
      - Partington X-linked mental retardation syndrome: 3

Related Diseases

1.	Intellectual Disability (Idiocy)
2.	Classical Lissencephalies and Subcortical Band Heterotopias
3.	X-Linked Mental Retardation (Mental Retardation, X Linked)
4.	Myoclonic Epilepsies (Myoclonic Encephalopathy)
5.	Down Syndrome (Down's Syndrome)

Experts

1.	Coban-Akdemir, Zeynep: 1 article (01/2018)
2.	Corveleyn, Anniek: 1 article (01/2018)
3.	Devriendt, Koenraad: 1 article (01/2018)
4.	Jhangiani, Shalini N: 1 article (01/2018)
5.	Lukusa, Prosper: 1 article (01/2018)
6.	Lumaka, Aimé: 1 article (01/2018)
7.	Lupski, James R: 1 article (01/2018)
8.	Mubungu, Gerrye: 1 article (01/2018)
9.	Peeters, Hilde: 1 article (01/2018)
10.	Posey, Jennifer: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Partington X-linked mental retardation syndrome:

1.	DNA (Deoxyribonucleic Acid)IBA 05/01/2014 - "This study shows that in males with a phenotype of mild Partington syndrome and in heterozygous females fragment length analysis should be preferred over DNA sequencing."
2.	Proteins (Proteins, Gene)FDA Link 06/01/2007 - "The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and intellectual disability, and in nonsyndromic X-linked mental retardation. "
3.	aminoacylase I (aminoacylase)IBA 01/01/2018 - "Identified diseases included Down syndrome (15%), submicroscopic copy number variants (9%), aminoacylase deficiency (0.8%), Partington syndrome in one patient (0.8%) and his similarly affected brother, X-linked syndromic Mental Retardation type 33 (0.8%), and two conditions without clear underlying molecular genetic etiologies (Oculo-Auriculo-Vertebral and Amniotic Bands Sequence). "
4.	polyalanineIBA 06/01/2007 - "The most common mutation in ARX (seen in X-linked infantile spasms syndrome, Partington syndrome, and X-linked mental retardation) is a 24-bp duplication in exon 2 resulting in expansion of a polyalanine tract. " 06/01/2007 - "The protein contains 4 polyalanine tracts, 3 of which are encoded in exon 2 and 1 in exon 4. Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and intellectual disability, and in nonsyndromic X-linked mental retardation. "