Details of Disease

General Information of Disease (ID: DISHE589)

• Disease Name: Wieacker-Wolff syndrome
• Synonyms: ZC4H2-Associated Rare Disorders (ZARD); Wieacker Wolff syndrome; mental retardation, X-linked, syndromic 4; Wieacker-Wolff syndrome, X-linked; foot contractures-muscle atrophy-oculomotor apraxia syndrome; WRWFXLR; X-linked intellectual disability, Miles-Carpenter type; Miles-CARPENTER X-linked mental retardation syndrome; intellectual disability-developmental delay-contractures syndrome; Wieacker-Wolff syndrome; Wieacker syndrome; mental retardation, X-linked, with congenital contractures and low fingertip arches; MCS; WRWF; Miles-Carpenter syndrome; Wieacker-Wolff syndrome, X-linked recessive; contractures of feet, muscle atrophy, and oculomotor apraxia; apraxia, oculomotor, with congenital contractures and muscle atrophy; mental retardation, X-linked, with congenital contractures and Low fingertip arches; MRXS4
• Definition: A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DIS9QO65: Wieacker-Wolff syndrome (spectrum)
  DISYOKTG: Mendelian neurodevelopmental disorder
  DISHE589: Wieacker-Wolff syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010758
  MESH ID: C536703
  UMLS CUI: C0796200
  OMIM ID: 314580
  MedGen ID: 163227
  Orphanet ID: 3454
  SNOMED CT ID: 722456001

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
ZC4H2	OT6Q5UDC	Definitive	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.