Details of Disease

General Information of Disease (ID: DIS206QS)

• Disease Name: Early-onset parkinsonism-intellectual disability syndrome
• Synonyms: BGMR; WAISMAN syndrome; WSMN; X-linked recessive basal ganglia disorder with intellectual disability; basal ganglia disorder with intellectual disability; basal ganglion disorder with mental retardation; basal ganglion disorder with intellectual disability; Wsn; basal ganglia disorder with mental retardation; X-linked recessive basal ganglia disorder with mental retardation; Parkinsonism, early onset with mental retardation; Parkinsonism, early-onset, with intellectual disability; Parkinsonism, early onset with intellectual disability; Laxova Brown hogan syndrome; Parkinsonism, early-onset, with mental retardation; Laxova-Opitz syndrome; early-onset parkinsonism-intellectual disability syndrome; Waisman syndrome; Waisman syndrome, X-linked recessive
• Definition: A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.
• Disease Hierarchy:
  DISHGY45: Parkinsonian disorder
  DISG1YOH: X-linked syndromic intellectual disability
  DIS206QS: Early-onset parkinsonism-intellectual disability syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010709
  MESH ID: C537179
  UMLS CUI: C0796195
  OMIM ID: 311510
  MedGen ID: 208674
  Orphanet ID: 2379
  SNOMED CT ID: 716107009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT13	OTTYSKGX	Limited	Genetic Variation	[1]
KRT4	OT24PHPM	Limited	Genetic Variation	[1]
IVNS1ABP	OTYHL4I7	Strong	Biomarker	[2]
RAB39B	OTDCLLT0	Definitive	X-linked	[3]

References

• [1] Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus.Med Oral Patol Oral Cir Bucal. 2018 Mar 1;23(2):e144-e150. doi: 10.4317/medoral.21437.
• [2] The C terminus of NS1 protein of influenza A/WSN/1933(H1N1) virus modulates antiviral responses in infected human macrophages and mice.J Gen Virol. 2015 Aug;96(8):2086-2091. doi: 10.1099/vir.0.000171. Epub 2015 May 1.
• [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.