Details of Disease

General Information of Disease (ID: DIS9YXP5)

• Disease Name: Mobius syndrome
• Synonyms: congenital facial diplegia syndrome; congenital oculofacial paralysis; absence or underdevelopment of the 6th and 7th cranial nerves; Moebius syndrome, Isolated cases; Moebius Syndrome; Mbius syndrome; Moebius congenital oculofacial paralysis; Moebius sequence; oromandibular-limb hypogenesis spectrum; Moebius syndrome; Mobius syndrome; MBS; congenital facial diplegia
• Definition: Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)
• Disease Hierarchy:
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DIS6SVEE: Syndromic disease
  DIS2BIP8: Congenital nervous system disorder
  DISYLFS0: Nuclear oculomotor paralysis
  DISD2U0E: Facial nerve disorder
  DIS9YXP5: Mobius syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008006
  MESH ID: D020331
  UMLS CUI: C0221060
  OMIM ID: 157900
  MedGen ID: 66357
  Orphanet ID: 570
  SNOMED CT ID: 766987006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RAB7A	TTF6WAQ	Strong	Biomarker	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AKR1C4	DEAJN47	Strong	Genetic Variation	[2]

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLXND1	OTNK9ALK	Supportive	Autosomal dominant	[3]
REV3L	OT0OP8EJ	Supportive	Autosomal dominant	[3]
NEUROG1	OTMJZP9G	moderate	Genetic Variation	[4]
RAB18	OTNMAQLS	moderate	Biomarker	[5]
BASP1	OTF4VS5G	Strong	Biomarker	[6]
FOXL2	OTFRQUYL	Strong	Genetic Variation	[7]
HOXA1	OTMSOJ7D	Strong	Genetic Variation	[8]
HOXB1	OTGC0EKI	Strong	Genetic Variation	[9]
KIF16B	OTDWIFQ2	Strong	Genetic Variation	[10]
KIF21A	OT511XD9	Strong	Genetic Variation	[10]
SOX14	OTPEKVOM	Strong	Genetic Variation	[7]
STAC3	OTPY3BGK	Strong	Genetic Variation	[11]
TBC1D20	OTDL1T6E	Strong	Biomarker	[12]

References

• [1] Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.Hum Genet. 2000 Apr;106(4):432-9. doi: 10.1007/s004390000266.
• [2] Physical and genetic mapping of the CDR gene with particular reference to its position with respect to the FRAXA site.Am J Med Genet. 1991 Feb-Mar;38(2-3):357-62. doi: 10.1002/ajmg.1320380239.
• [3] De novo mutations in PLXND1 and REV3L cause M?bius syndrome. Nat Commun. 2015 Jun 12;6:7199. doi: 10.1038/ncomms8199.
• [4] A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].Behav Brain Funct. 2013 Feb 18;9:7. doi: 10.1186/1744-9081-9-7.
• [5] ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18.Exp Neurol. 2015 May;267:143-51. doi: 10.1016/j.expneurol.2015.03.003. Epub 2015 Mar 13.
• [6] Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Mbius syndrome.J Genet Genomics. 2009 Apr;36(4):251-6. doi: 10.1016/S1673-8527(08)60112-5.
• [7] SOX14 is a candidate gene for limb defects associated with BPES and Mbius syndrome.Hum Genet. 2000 Mar;106(3):269-76. doi: 10.1007/s004390051037.
• [8] Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.Ophthalmology. 2014 Jul;121(7):1461-8. doi: 10.1016/j.ophtha.2014.01.006. Epub 2014 Mar 6.
• [9] A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.Eur J Med Genet. 2015 Jun-Jul;58(6-7):358-63. doi: 10.1016/j.ejmg.2015.05.003. Epub 2015 May 23.
• [10] A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Mbius syndrome.Mol Vis. 2014 Mar 28;20:368-75. eCollection 2014.
• [11] Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4.
• [12] Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14.