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SEMDHL
MCID: SPN438
MIFTS: 36
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Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy (SEMDHL)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...
MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:
Characteristics:Inheritance:
Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:
X-linked recessive 57
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome:
X-linked recessive 58
Prevelance:
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome:
Childhood,Infancy 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
slowly progressive onset in early childhood normal development in first 6-12 months death from respiratory failure often occurs HPO:30
spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy:
Onset and clinical course slowly progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases
ICD10:
32
Orphanet: 58
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis |
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GARD: 19 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). MalaCards based summary: Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy, also known as leukoencephalopathy-metaphyseal chondrodysplasia syndrome, is related to hypomyelinating leukodystrophy and leukodystrophy, and has symptoms including fine tremor and unspecified visual loss. An important gene associated with Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1). Affiliated tissues include bone, brain and monocytes, and related phenotypes are leukoencephalopathy and metaphyseal chondrodysplasia OMIM®: 57 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) (Updated 08-Dec-2022) Orphanet: 58 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. UniProtKB/Swiss-Prot: 73 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. |
Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...
Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:58 30 (show top 50) (show all 65)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:300232 (Updated 08-Dec-2022)UMLS symptoms related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:fine tremor; unspecified visual loss |
Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...
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Organs/tissues related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:
MalaCards :
Bone,
Brain,
Monocytes,
Endothelial,
Breast,
Skin
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Articles related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:(show top 50) (show all 65)
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Genes related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:5
UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:73
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Search
GEO
for disease gene expression data for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy.
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