Details of Disease

General Information of Disease (ID: DISAY31A)

• Disease Name: Bone fragility with contractures, arterial rupture, and deafness
• Synonyms: LH3 deficiency; lysyl Hydroxylase 3 deficiency; bone fragility with contractures, arterial rupture, and deafness; bone fragility-contractures-arterial rupture-deafness syndrome; connective tissue disorder due to LH3 deficiency; connective tissue disorder due to lysyl hydroxylase-3 deficiency
• Definition: A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.
• Disease Hierarchy:
  DIS8I9FS: Hereditary disorder of connective tissue
  DIS7GG31: Developmental defect during embryogenesis
  DISAY31A: Bone fragility with contractures, arterial rupture, and deafness
• Disease Identifiers:
  MONDO ID: MONDO_0012892
  MESH ID: C567320
  UMLS CUI: C2676285
  OMIM ID: 612394
  MedGen ID: 382811
  Orphanet ID: 300284

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
PLOD3	OTT00T7Q	Strong	Autosomal recessive	[1]

References

• [1] A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. Am J Hum Genet. 2008 Oct;83(4):495-503. doi: 10.1016/j.ajhg.2008.09.004. Epub 2008 Oct 2.