Details of Disease

General Information of Disease (ID: DIS0LF2K)

• Disease Name: Multiple congenital anomalies/dysmorphic syndrome
• Synonyms: MCAHS
• Disease Hierarchy:
  DIS7GG31: Developmental defect during embryogenesis
  DIS0LF2K: Multiple congenital anomalies/dysmorphic syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0019042
  UMLS CUI: C5681310
  MedGen ID: 1843247
  Orphanet ID: 68341

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 16 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UBE4A	OTO4BYWL	Limited	Autosomal recessive	[1]
ZMYM5	OTBRD0QN	Limited	Autosomal recessive	[1]
ZYG11B	OTIDGBLM	Limited	Autosomal dominant	[1]
UBA2	OTXJ39JG	Strong	Autosomal dominant	[1]
AAR2	OTG6WE4M	Limited	Autosomal recessive	[1]
BAZ1A	OTWHOVZS	Limited	Autosomal dominant	[1]
BRD4	OT2Y2TCW	Limited	Autosomal dominant	[1]
C16orf90	OTAYN87M	Limited	Autosomal recessive	[1]
CDH4	OT8LH3HN	Limited	Autosomal recessive	[1]
CLTCL1	OT6W5BNR	Limited	Autosomal dominant	[1]
RARA	OT192V9V	Limited	Autosomal dominant	[1]
SLC35F5	OT1FX2QO	Limited	Autosomal recessive	[1]
SYDE2	OTOEIXSM	Limited	Autosomal recessive	[1]
THSD1	OTKPGFHS	Limited	Autosomal recessive	[1]
BMP7	OTYATP2K	Moderate	Autosomal dominant	[1]
OTUD5	OTMCR6JM	Moderate	X-linked	[1]

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BRD4	TTRA6BO	Limited	Autosomal dominant	[1]
RARA	TTW38KT	Limited	Autosomal dominant	[1]
BMP7	TTKOBRA	Moderate	Autosomal dominant	[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.