Details of Disease

General Information of Disease (ID: DISJ5QNF)

• Disease Name: Borjeson-Forssman-Lehmann syndrome
• Synonyms: mental retardation, epilepsy, and endocrine disorders; intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type; Borjeson-FORSSMAN-Lehmann syndrome; intellectual disability, epilepsy, and endocrine disorders; mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type; mental deficiency, epilepsy and endocrine disorders; Borjeson syndrome; BFLS; BORJ; intellectual disability, epilepsy, and endocrine disorder; Brjeson-Forssman-Lehman Syndrome; syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type; intellectual disability-epilepsy-endocrine disorders syndrome; Borjeson-Forssman-Lehmann syndrome; MRXSBFL; intellectual deficiency-epilepsy-endocrine disorders syndrome; Borjeson-Forssman-Lehmann syndrome, X-linked recessive; mental retardation, epilepsy, and endocrine disorder; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
• Definition: A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.
• Disease Hierarchy:
  DISG1YOH: X-linked syndromic intellectual disability
  DISJ5QNF: Borjeson-Forssman-Lehmann syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010537
  MESH ID: C536575
  UMLS CUI: C0265339
  OMIM ID: 301900
  MedGen ID: 78557
  Orphanet ID: 127
  SNOMED CT ID: 21634003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARHGEF6	OTN1ABGL	Strong	Biomarker	[1]
PAK3	OT80M3BV	Strong	Biomarker	[1]
PHF6	OT8DXI40	Definitive	X-linked	[2]

References

• [1] Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Brjeson-Forssman-Lehmann syndrome and MRX27.Am J Med Genet. 2001 Apr 15;100(1):43-8. doi: 10.1002/ajmg.1189.
• [2] 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.