Lathosterolosis

Preferred Label : Lathosterolosis;

Symbol : LATHOS;

CISMeF acronym : LATHOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sterol c5-desaturase deficiency; Sc5d deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sterol 3-beta-hydroxysteroid-delta-5-desaturase gene (SC5DL, 602286.0001);

Laboratory abnormalities : Elevated transaminases; Hyperbilirubinemia; Elevated lathosterol; Absent 7-dehydrocholesterol; Decreased 3-beta-hydroxysteroid-delta-5-desaturase (SC5D); Elevated gamma-glutamyltransferase; Elevated alkaline phosphatase; Elevated ammonia; Normal cholesterol; Fibroblasts show lamellar lysosomal inclusions on electron microscopy;

Prefixed ID : #607330;

Détails

Origin ID

607330;

UMLS CUI

C1846421;

Currated CISMeF NLP mapping
- Lathosterolosis [ICD-11 More detail]
- Lathosterolosis [MeSH concept]
- Lathosterolosis [ORDO Disease]
- Lathosterolosis (disorder) [SNOMED CT concept]
- lathosterolosis [Disease (Nov.)]
- lathosterolosis [MeSH Supplementary Concept]
Genes related to phenotype
- Sterol c5-desaturase [OMIM gene]
HPO term(s)
- Abnormal circulating cholesterol concentration [HPO term]
- Acanthocytosis [HPO term]
- Ambiguous genitalia, male [HPO term]
- Anisopoikilocytosis [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilobate gallbladder [HPO term]
- Bitemporal narrowing [HPO term]
- Butterfly vertebrae [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Chiari malformation [HPO term]
- Conductive hearing impairment [HPO term]
- Corneal opacity [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Epicanthus [HPO term]
- Foam cells with lamellar inclusion bodies [HPO term]
- Generalized hypotonia [HPO term]
- Gingival overgrowth [HPO term]
- Growth delay [HPO term]
- Hepatosplenomegaly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Horseshoe kidney [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypotonia [HPO term]
- Increased mean platelet volume [HPO term]
- Intellectual disability [HPO term]
- Intrahepatic cholestasis [HPO term]
- Long philtrum [HPO term]
- Lumbosacral meningocele [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Myelomeningocele [HPO term]
- Narrow forehead [HPO term]
- Opacification of the corneal stroma [HPO term]
- Osteoporosis [HPO term]
- Pathologic fracture [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Ptosis [HPO term]
- Schistocytosis [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Sloping forehead [HPO term]
- Talipes equinovarus [HPO term]
- Thick upper lip vermilion [HPO term]
- Thin vermilion border [HPO term]
- Toe syndactyly [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Lathosterolosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lathosterolosis [ORDO Disease]
- Lathosterolosis [MeSH concept]
- Lathosterolosis [ICD-11 More detail]
- Lathosterolosis (disorder) [SNOMED CT concept]
- lathosterolosis [MeSH Supplementary Concept]
- lathosterolosis [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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