Desmosterolosis

Preferred Label : Desmosterolosis;

Type : Phenotype, molecular basis known;

Description : Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by Zolotushko et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 24-dehydrocholesterol reductase gene (DHCR24, 606418.0001);

Laboratory abnormalities : Elevated plasma desmosterol;

Prefixed ID : #602398;

Details

Origin ID

602398;

UMLS CUI

C1865596;

Currated CISMeF NLP mapping
- Desmosterolosis [PASCAL descriptor]
- Desmosterolosis [ICD-11 More detail]
- Desmosterolosis [ORDO Disease]
- Desmosterolosis (disorder) [SNOMED CT concept]
- desmosterolosis [Disease (Nov.)]
- desmosterolosis [MeSH concept]
- desmosterolosis [MeSH Supplementary Concept]
Genes related to phenotype
- 24-dehydrocholesterol reductase [OMIM gene]
HPO term(s)
- Abnormal circulating cholesterol concentration [HPO term]
- Alveolar ridge overgrowth [HPO term]
- Ambiguous genitalia, female [HPO term]
- Ambiguous genitalia, male [HPO term]
- Anteverted nares [HPO term]
- Aplasia/Hypoplasia of the corpus callosum [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Cleft palate [HPO term]
- Contractures of the hands, mild [HPO term]
- Cupped ear [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Frontal bossing [HPO term]
- Generalized osteosclerosis [HPO term]
- Gingival fibromatosis [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypoplastic nasal bridge [HPO term]
- Joint contracture of the hand [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Nystagmus [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Patent ductus arteriosus [HPO term]
- Posteriorly rotated ears [HPO term]
- Relative macrocephaly [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Total anomalous pulmonary venous return [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Desmosterolosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Desmosterolosis [ORDO Disease]
- Desmosterolosis [PASCAL descriptor]
- Desmosterolosis [ICD-11 More detail]
- Desmosterolosis (disorder) [SNOMED CT concept]
- desmosterolosis [MeSH Supplementary Concept]
- desmosterolosis [MeSH concept]
- desmosterolosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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