Details of Disease

General Information of Disease (ID: DIS0ILI1)

• Disease Name: Focal segmental glomerulosclerosis and neurodevelopmental syndrome
• Synonyms: FSGSNEDS
• Definition: A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS0ILI1: Focal segmental glomerulosclerosis and neurodevelopmental syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0100111
  UMLS CUI: C5561938
  OMIM ID: 619428
  MedGen ID: 1794148

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
TRIM8	OTS6JFR0	Definitive	Autosomal dominant	[1]

References

• [1] 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.