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CDL
MCID: CLV014
MIFTS: 27
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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:Orphanet epidemiological data:58
calvarial doughnut lesions-bone fragility syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
patients with gain-of-function mutations exhibit a more severe phenotype, including fractures at birth, severe short stature, and spondylometaphyseal dysplasia HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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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. MalaCards based summary : Calvarial Doughnut Lesions with Bone Fragility, also known as doughnut lesions of skull, familial, is related to cornelia de lange syndrome and cornelia de lange syndrome 1. An important gene associated with Calvarial Doughnut Lesions with Bone Fragility is SGMS2 (Sphingomyelin Synthase 2). Affiliated tissues include bone and kidney, and related phenotypes are platyspondyly and motor delay OMIM : 56 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) |
Diseases related to Calvarial Doughnut Lesions with Bone Fragility via text searches within MalaCards or GeneCards Suite gene sharing:(show all 14)
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:31 (show all 12)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:126550 |
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MalaCards organs/tissues related to Calvarial Doughnut Lesions with Bone Fragility:40
Bone,
Kidney
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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 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Calvarial Doughnut Lesions with Bone Fragility:6
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Search
GEO
for disease gene expression data for Calvarial Doughnut Lesions with Bone Fragility.
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