Details of Disease

General Information of Disease (ID: DIS3H205)

• Disease Name: Partington syndrome
• Synonyms: mental retardation, X-linked, with dystonic movements, ataxia, and seizures; Partington X-linked intellectual disability syndrome; mental retardation, X-linked 36; intellectual disability, X-linked 36; MRXS1; Partington X-linked mental retardation syndrome; intellectual disability, X-linked, syndromic 1; intellectual disability, X-linked, with dystonic movements, ataxia, and seizures; PRTS; intellectual disability-dystonic movements-ataxia-seizures syndrome; mental retardation, X-linked, syndromic 1; X-linked Russell-Silver syndrome; Partington syndrome; Partington-Mulley syndrome; X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome, X-linked recessive
• Definition: A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.
• Disease Hierarchy:
  DISG1YOH: X-linked syndromic intellectual disability
  DIS3H205: Partington syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010654
  MESH ID: C536300
  UMLS CUI: C0796250
  OMIM ID: 309510
  MedGen ID: 163237
  Orphanet ID: 94083
  SNOMED CT ID: 702412005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GRIA3	TT82EZV	Limited	Biomarker	[1]
POLA1	TTGPJ0U	Strong	GermlineCausalMutation	[2]
KDM5C	TT94UCF	Definitive	Biomarker	[3]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RPL10	OTBHOZGC	Limited	Biomarker	[4]
ARX	OTBGYH25	Definitive	X-linked recessive	[5]
BRWD3	OT3BM9B0	Definitive	Biomarker	[6]
CASK	OT8EF7ZF	Definitive	Biomarker	[7]
PAK3	OT80M3BV	Definitive	Biomarker	[8]

References

• [1] X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. Orphanet J Rare Dis. 2014 Apr 11;9:49. doi: 10.1186/1750-1172-9-49.
• [2] DNA polymerase- regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. Nat Immunol. 2016 May;17(5):495-504. doi: 10.1038/ni.3409. Epub 2016 Mar 28.
• [3] A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation.Cell Rep. 2016 Feb 9;14(5):1000-1009. doi: 10.1016/j.celrep.2015.12.091. Epub 2016 Jan 21.
• [4] A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.Eur J Med Genet. 2018 Feb;61(2):89-93. doi: 10.1016/j.ejmg.2017.10.011. Epub 2017 Oct 21.
• [5] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
• [6] Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.Am J Hum Genet. 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010.
• [7] Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice.J Psychiatry Neurosci. 2017 Jan;42(1):37-47. doi: 10.1503/jpn.150359.
• [8] Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.J Child Neurol. 2018 Jan;33(1):106-113. doi: 10.1177/0883073817740443.