Details of Disease

General Information of Disease (ID: DISH38BB)

• Disease Name: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
• Synonyms: achondroplasia, severe, with developmental delay and acanthosis nigricans; SADDAN; severe achondroplasia with developmental delay and acanthosis nigricans; SADDAN dysplasia
• Definition: A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).
• Disease Hierarchy:
  DIS3HIWD: Autosomal dominant disease
  DIS18AKT: FGFR3-related chondrodysplasia
  DISH38BB: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014658
  MESH ID: D000130
  UMLS CUI: C2674173
  MedGen ID: 393098
  Orphanet ID: 85165

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR3	TTST7KB	Limited	Biomarker	[1]
FGFR3	TTST7KB	Strong	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGFR3	OTSAXDIL	Strong	Autosomal dominant	[2]

References

• [1] Mutant FGFR3 associated with SADDAN disease causes cytoskeleton disorganization through PLC1/Src-mediated paxillin hyperphosphorylation.Int J Biochem Cell Biol. 2018 Feb;95:17-26. doi: 10.1016/j.biocel.2017.12.008. Epub 2017 Dec 11.
• [2] A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Am J Hum Genet. 1999 Mar;64(3):722-31. doi: 10.1086/302275.