Details of Disease

General Information of Disease (ID: DIS4JW1U)

• Disease Name: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
• Definition: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Lebers congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal -fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.
• Disease Hierarchy:
  DISQZI8H: Inborn disorder of purine metabolism
  DISGGL77: Inherited retinal dystrophy
  DIS4JW1U: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0018495
  UMLS CUI: C4517296
  MedGen ID: 1374000
  Orphanet ID: 423479
  SNOMED CT ID: 732246009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRPS1	OTN3A6CN	Supportive	X-linked	[1]

References

• [1] Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. Eur J Hum Genet. 2015 Mar;23(3):310-6. doi: 10.1038/ejhg.2014.112. Epub 2014 Jun 25.