Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases
Aliases & Descriptions for Desmosterolosis:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal; Age of death: any age,stillbirth
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Bone diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
OMIM:49 Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated... (602398) more...
MalaCards based summary: Desmosterolosis, also known as deficiency of 3beta-hydroxysterol delta24-reductase, is related to osteoblastoma and greenberg skeletal dysplasia, and has symptoms including cognitive impairment, aplasia/hypoplasia of the corpus callosum and short stature. An important gene associated with Desmosterolosis is DHCR24 (24-Dehydrocholesterol Reductase). Affiliated tissues include brain, bone and skin.
UniProtKB/Swiss-Prot:67 Desmosterolosis: Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.
Genetics Home Reference:23 Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms.
Wikipedia:68 Desmosterolosis is a defect in cholesterol biosynthesis. It results in an accumulation of desmosterol. more...
Diseases related to Desmosterolosis via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Desmosterolosis:
Symptoms by clinical synopsis from OMIM:602398
Clinical features from OMIM:602398
Symptoms:51 (show all 38)
HPO human phenotypes related to Desmosterolosis:(show all 70)
UMLS symptoms related to Desmosterolosis:seizures, muscle spasticity
MalaCards organs/tissues related to Desmosterolosis:33
Brain, Bone, Skin, Kidney, Tongue, Temporal lobe, Colon
Articles related to Desmosterolosis:
UniProtKB/Swiss-Prot genetic disease variations for Desmosterolosis:67
Clinvar genetic disease variations for Desmosterolosis:5
Search GEO for disease gene expression data for Desmosterolosis.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet