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SEMDX
MCID: SPN358
MIFTS: 39
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Spondyloepimetaphyseal Dysplasia, X-Linked (SEMDX)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, X-Linked:
Characteristics:Inheritance:
Spondyloepimetaphyseal Dysplasia, X-Linked:
X-linked recessive 57
X-Linked Spondyloepimetaphyseal Dysplasia:
X-linked recessive 58
OMIM®:57 (Updated 24-Oct-2022)
Miscellaneous:
pectus carinatum present in obligate carrier mothers dwarfism not detectable at birth Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
32
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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GARD: 19 A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses. MalaCards based summary: Spondyloepimetaphyseal Dysplasia, X-Linked, also known as x-linked spondyloepimetaphyseal dysplasia, is related to spondyloepimetaphyseal dysplasia and osteochondrodysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia, X-Linked is BGN (Biglycan), and among its related pathways/superpathways are Ciliary landscape and Intraflagellar transport. Affiliated tissues include bone and tongue, and related phenotypes are kyphosis and pectus carinatum Orphanet: 58 A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses. UniProtKB/Swiss-Prot: 73 An X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence. Disease Ontology: 11 A spondyloepimetaphyseal dysplasia that has material basis in hemizygous mutation in BGN on chromosome Xq28.
More information from OMIM:
300106
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Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked:30 (show all 35)
Symptoms via clinical synopsis from OMIM®:57 (Updated 24-Oct-2022)Clinical features from OMIM®:300106 (Updated 24-Oct-2022) |
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Cochrane evidence based reviews: spondyloepimetaphyseal dysplasia, x-linked |
Organs/tissues related to Spondyloepimetaphyseal Dysplasia, X-Linked:
MalaCards :
Bone,
Tongue
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Articles related to Spondyloepimetaphyseal Dysplasia, X-Linked:(show all 13)
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Genes related to Spondyloepimetaphyseal Dysplasia, X-Linked (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked:5 (show all 14)
UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked:73
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Search
GEO
for disease gene expression data for Spondyloepimetaphyseal Dysplasia, X-Linked.
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Cellular components related to Spondyloepimetaphyseal Dysplasia, X-Linked according to GeneCards Suite gene sharing:
Biological processes related to Spondyloepimetaphyseal Dysplasia, X-Linked according to GeneCards Suite gene sharing:
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