Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy (SEMDHL)

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OMIM 56 300232 MeSH 43 D010009 ICD10 via Orphanet 33 G11.4 UMLS via Orphanet 72 C1970840

Orphanet 58 ORPHA83629 MedGen 41 C1846148 SNOMED-CT via HPO 68 113194005 123983008 128613002 192967009 194021007 203598005 204043002 22006008 22811006 228156007 237836003 246545002 246586009 246635007 247578003 249327002 249697003 249765007 250018006 254062008 26079004 27272007 278849000 28681006 302200001 313307000 366575004 385522000 397540003 418143002 43476002 48251003 52522001 55033002 57048009 708670007 74820003 7890003 7973008 81756001 84757009 86854008 88565003 91138005 91175000 95427009 95515009 more

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83629 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 . Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy, also known as leukoencephalopathy-spondylometaphyseal dysplasia syndrome, is related to hypomyelinating leukodystrophy and 3-methylglutaconic aciduria, type iii. An important gene associated with Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1). Affiliated tissues include brain, bone and skin, and related phenotypes are leukoencephalopathy and metaphyseal chondrodysplasia

OMIM : ⁵⁶ X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by Miyake et al., 2017). (300232)

UniProtKB/Swiss-Prot : ⁷³ Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy: An X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy.

Clinical features from OMIM:

300232

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy.