Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases
Aliases & Descriptions for Desmosterolosis:
Orphanet epidemiological data:53
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:51 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 greenberg skeletal dysplasia and smith-lemli-opitz syndrome, and has symptoms including cleft palate, microcephaly and micrognathia. An important gene associated with Desmosterolosis is DHCR24 (24-Dehydrocholesterol Reductase). Affiliated tissues include brain, bone and skin.
UniProtKB/Swiss-Prot:69 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:25 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:70 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:
Human phenotypes related to Desmosterolosis:63 (show all 56)
UMLS symptoms related to Desmosterolosis:muscle spasticity, seizures
Drugs for Desmosterolosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Desmosterolosis
MalaCards organs/tissues related to Desmosterolosis:35
Brain, Bone, Skin
Articles related to Desmosterolosis:
UniProtKB/Swiss-Prot genetic disease variations for Desmosterolosis:69
Clinvar genetic disease variations for Desmosterolosis:5
Search GEO for disease gene expression data for Desmosterolosis.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet