Details of Disease

General Information of Disease (ID: DISEMDUR)

• Disease Name: Armfield syndrome
• Synonyms: mental retardation, X-linked, syndromic, Armfield type; intellectual disability, X-linked, syndromic, Armfield type; syndromic X-linked intellectual disability Armfield type; intellectual disability syndrome, X-linked, Armfield type; intellectual developmental disorder, X-linked, syndromic, Armfield type, X-linked recessive; MRXSA; Armfield X-linked intellectual disability syndrome; X-linked intellectual disability, Armfield type; mental retardation syndrome, X-linked, armfield type, X-linked recessive; Armfield X-linked mental retardation syndrome; mental retardation syndrome, X-linked, Armfield type; Armfield syndrome; syndromic X-linked mental retardation Armfield type
• Definition: X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISEMDUR: Armfield syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010284
  MESH ID: C564551
  UMLS CUI: C1846057
  OMIM ID: 300261
  MedGen ID: 375800
  Orphanet ID: 85276

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
FAM50A	OTPBO355	Moderate	X-linked	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.