Details of Disease

General Information of Disease (ID: DISND1XX)

• Disease Name: Chromosome 1p32-p31 deletion syndrome
• Synonyms: BRMUTD; brain malformations with or without urinary tract defects; monosomy 1p31p32; chromosome 1p32-p31 deletion syndrome; Del(1)(p31p32); 1p31p32 microdeletion syndrome
• Definition: 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.
• Disease Hierarchy:
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DIS1DD8C: Syndrome caused by partial chromosomal deletion
  DISYKSRF: Genetic disease
  DIS7KRZL: Partial deletion of the short arm of chromosome 1
  DISND1XX: Chromosome 1p32-p31 deletion syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013396
  UMLS CUI: C4478940
  OMIM ID: 613735
  MedGen ID: 1392440
  Orphanet ID: 401986

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
NFIA	OTDHQ9CG	Definitive	Autosomal dominant	[1]

References

• [1] Familial craniosynostosis associated with a microdeletion involving the NFIA gene. Clin Dysmorphol. 2015 Jul;24(3):109-12. doi: 10.1097/MCD.0000000000000079.