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CDL
MCID: CLV014
MIFTS: 34
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Calvarial Doughnut Lesions with Bone Fragility (CDL)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Calvarial Doughnut Lesions with Bone Fragility:
Characteristics:Inheritance:
Calvarial Doughnut Lesions with Bone Fragility:
Autosomal dominant 57
Calvarial Doughnut Lesions-Bone Fragility Syndrome:
Autosomal dominant 58
Prevelance:
Calvarial Doughnut Lesions-Bone Fragility Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Calvarial Doughnut Lesions-Bone Fragility Syndrome:
Childhood 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
patients with gain-of-function mutations exhibit a more severe phenotype, including fractures at birth, severe short stature, and spondylometaphyseal dysplasia Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases
ICD10:
32
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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OMIM®: 57 Calvarial doughnut lesions with bone fragility (CDL) is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. Some more severely affected individuals exhibit neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia (CDLSMD) (Pekkinen et al., 2019). (126550) (Updated 08-Dec-2022) MalaCards based summary: Calvarial Doughnut Lesions with Bone Fragility, also known as calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, is related to cornelia de lange syndrome 1 and bone mineral density quantitative trait locus 3. An important gene associated with Calvarial Doughnut Lesions with Bone Fragility is SGMS2 (Sphingomyelin Synthase 2), and among its related pathways/superpathways is Glycerolipids and glycerophospholipids. Affiliated tissues include bone, and related phenotypes are motor delay and platyspondyly UniProtKB/Swiss-Prot 73 Calvarial doughnut lesions with bone fragility: A rare autosomal dominant bone disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. Patients present with childhood onset of primary osteoporosis and typical sclerotic doughnut-shaped lesions in the cranial bones. Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia: A severe form of calvarial doughnut lesions with bone fragility, a rare autosomal dominant disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. CDLSMD patients show neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia. Orphanet: 58 A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia. Disease Ontology: 11 An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. Wikipedia: 75 Calvarial doughnut lesions-bone fragility syndrome, also known as Familial calvarial doughnut lesions,... more... |
Diseases related to Calvarial Doughnut Lesions with Bone Fragility via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Calvarial Doughnut Lesions with Bone Fragility:
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Human phenotypes related to Calvarial Doughnut Lesions with Bone Fragility:30 (show all 12)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:126550 (Updated 08-Dec-2022) |
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Organs/tissues related to Calvarial Doughnut Lesions with Bone Fragility:
MalaCards :
Bone
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Articles related to Calvarial Doughnut Lesions with Bone Fragility:
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Genes related to Calvarial Doughnut Lesions with Bone Fragility (2 elite genes):(show all 12) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Calvarial Doughnut Lesions with Bone Fragility:5
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Search
GEO
for disease gene expression data for Calvarial Doughnut Lesions with Bone Fragility.
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Biological processes related to Calvarial Doughnut Lesions with Bone Fragility according to GeneCards Suite gene sharing:
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