Details of Disease

General Information of Disease (ID: DISWXMVZ)

• Disease Name: Spondyloepimetaphyseal dysplasia, Bieganski type
• Synonyms: leukoencephalopathy with metaphyseal chondrodysplasia; LKMCD; spondyloepimetaphyseal dysplasia X-linked with mental deterioration; SEMD X-linked with mental deterioration; spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration; SEMD, X-linked, with mental deterioration; H-SMD; hypomyelination-spondyloepimetaphyseal dysplasia syndrome; leukoencephalopathy-SEMD syndrome; spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive; leukoencephalopathy-metaphyseal chondrodysplasia syndrome
• Definition: A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.
• Disease Hierarchy:
  DISO4L5A: Spondyloepimetaphyseal dysplasia
  DISWXMVZ: Spondyloepimetaphyseal dysplasia, Bieganski type
• Disease Identifiers:
  MONDO ID: MONDO_0010275
  MESH ID: C536671
  UMLS CUI: C1846148
  OMIM ID: 300232
  MedGen ID: 335350
  Orphanet ID: 83629

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
AIFM1	OTKPWB7Q	Strong	X-linked	[1]

References

• [1] X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. Neurogenetics. 2017 Dec;18(4):185-194. doi: 10.1007/s10048-017-0520-x. Epub 2017 Aug 26.