Details of Disease

General Information of Disease (ID: DISR9ELF)

• Disease Name: Schuurs-Hoeijmakers syndrome
• Synonyms: autosomal dominant intellectual disability-17; intellectual disability, autosomal dominant 17; PACS1-related syndrome; mental retardation, autosomal dominant 17; intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome; intellectual disability, autosomal dominant type 17; mental retardation, autosomal dominant type 17; SHMS; MRD17; autosomal dominant mental retardation 17; autosomal dominant intellectual disability 17; Schuurs-Hoeijmakers syndrome
• Definition: Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISH7SDF: Syndromic intellectual disability
  DIS1I87P: Intellectual disability, autosomal dominant
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISR9ELF: Schuurs-Hoeijmakers syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014006
  UMLS CUI: C3554343
  OMIM ID: 615009
  MedGen ID: 767257
  Orphanet ID: 329224
  SNOMED CT ID: 773581009

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
PACS1	OT9TMQL3	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.