|
SEMDHL
MCID: SPN438
MIFTS: 34
|
Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy (SEMDHL)
Categories:
Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
|
|
|
|
Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...
MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:
Name: Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy
56
6
Characteristics:Orphanet epidemiological data:58
leukoencephalopathy-spondylometaphyseal dysplasia syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:56
Miscellaneous:
slowly progressive onset in early childhood normal development in first 6-12 months death from respiratory failure often occurs
Inheritance:
x-linked recessive HPO:31
spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy:
Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Mental diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases |
|
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 metaphyseal chondrodysplasia and leukoencephalopathy 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) |
Diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:(show all 13)
Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:
|
Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...
Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:58 31 (show top 50) (show all 61)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:300232 |
Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...
|
|
MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:40
Brain,
Bone,
Skin,
Monocytes,
Endothelial,
Eye
|
Articles related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:(show all 35)
|
Genes related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:6
|
|
Search
GEO
for disease gene expression data for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy.
|
|
|
|