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Lathosterolosis(LATHOS)

MedGen UID:
375885
•Concept ID:
C1846421
•
Disease or Syndrome
Synonyms: SC5D deficiency; Sterol c5-desaturase deficiency
SNOMED CT: Lathosterolosis (719257008); Sterol C5 desaturase deficiency (719257008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): SC5D (11q23.3-24.1)
 
Monarch Initiative: MONDO:0011816
OMIM®: 607330
Orphanet: ORPHA46059

Definition

Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency (summary by Rossi et al., 2007). [from OMIM]

Clinical features

From HPO
Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts
MedGen UID:
1052857
•Concept ID:
CN376712
•
Finding
Acitivity of 3-beta-hydroxysteroid-delta-5-desaturase, also known as Sterol C5-desaturase (EC 1.3.3.2), or SC5D below the lower limit of normal in cultured fibroblasts.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLathosterolosis
Follow this link to review classifications for Lathosterolosis in Orphanet.

Recent clinical studies

Etiology

Lathosterolosis: a rare cholesterol metabolism disorder with a wide range of clinical variability.
Söbü E, Kaya Özçora GD, Görükmez Ö, Şahinoğlu B
J Pediatr Endocrinol Metab 2023 Apr 25;36(4):424-429. Epub 2023 Jan 6 doi: 10.1515/jpem-2022-0586. PMID: 36607840
Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study.
Gelzo M, Di Taranto MD, Sica C, Boscia A, Papagni F, Fortunato G, Corso G, Dello Russo A
Lipids Health Dis 2019 Dec 30;18(1):235. doi: 10.1186/s12944-019-1176-3. PMID: 31888647Free PMC Article
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S, Soares N, He M, Steiner RD
Dev Disabil Res Rev 2013;17(3):197-210. doi: 10.1002/ddrr.1114. PMID: 23798009
Malformation syndromes caused by disorders of cholesterol synthesis.
Porter FD, Herman GE
J Lipid Res 2011 Jan;52(1):6-34. Epub 2010 Oct 7 doi: 10.1194/jlr.R009548. PMID: 20929975Free PMC Article
Clinical phenotype of lathosterolosis.
Rossi M, D'Armiento M, Parisi I, Ferrari P, Hall CM, Cervasio M, Rivasi F, Balli F, Vecchione R, Corso G, Andria G, Parenti G
Am J Med Genet A 2007 Oct 15;143A(20):2371-81. doi: 10.1002/ajmg.a.31929. PMID: 17853487

Diagnosis

Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study.
Gelzo M, Di Taranto MD, Sica C, Boscia A, Papagni F, Fortunato G, Corso G, Dello Russo A
Lipids Health Dis 2019 Dec 30;18(1):235. doi: 10.1186/s12944-019-1176-3. PMID: 31888647Free PMC Article
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC
Pediatr Radiol 2015 Jul;45(7):965-76. Epub 2015 Feb 3 doi: 10.1007/s00247-014-3257-9. PMID: 25646736
Cholesterol metabolism deficiency.
Jira P
Handb Clin Neurol 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. PMID: 23622407
Clinical phenotype of lathosterolosis.
Rossi M, D'Armiento M, Parisi I, Ferrari P, Hall CM, Cervasio M, Rivasi F, Balli F, Vecchione R, Corso G, Andria G, Parenti G
Am J Med Genet A 2007 Oct 15;143A(20):2371-81. doi: 10.1002/ajmg.a.31929. PMID: 17853487
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.
Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G
Am J Med Genet A 2005 Jan 15;132A(2):144-51. doi: 10.1002/ajmg.a.30426. PMID: 15580635

Therapy

Lathosterolosis: An Extremely Rare Inherited Condition Associated With Progressive Liver Disease.
Prasun P, Ferguson E, Iverson A, Cork E, Dolinger M, Ward SC, Arnon R
J Pediatr Gastroenterol Nutr 2019 Nov;69(5):e142-e145. doi: 10.1097/MPG.0000000000002434. PMID: 31259789

Prognosis

Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis.
Calvo PL, Brunati A, Spada M, Romagnoli R, Corso G, Parenti G, Rossi M, Baldi M, Carbonaro G, David E, Pucci A, Amoroso A, Salizzoni M
Am J Transplant 2014 Apr;14(4):960-5. Epub 2014 Mar 12 doi: 10.1111/ajt.12645. PMID: 24621408
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S, Soares N, He M, Steiner RD
Dev Disabil Res Rev 2013;17(3):197-210. doi: 10.1002/ddrr.1114. PMID: 23798009
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.
Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G
Am J Med Genet A 2005 Jan 15;132A(2):144-51. doi: 10.1002/ajmg.a.30426. PMID: 15580635

Clinical prediction guides

Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study.
Gelzo M, Di Taranto MD, Sica C, Boscia A, Papagni F, Fortunato G, Corso G, Dello Russo A
Lipids Health Dis 2019 Dec 30;18(1):235. doi: 10.1186/s12944-019-1176-3. PMID: 31888647Free PMC Article
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC
Pediatr Radiol 2015 Jul;45(7):965-76. Epub 2015 Feb 3 doi: 10.1007/s00247-014-3257-9. PMID: 25646736
Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis.
Calvo PL, Brunati A, Spada M, Romagnoli R, Corso G, Parenti G, Rossi M, Baldi M, Carbonaro G, David E, Pucci A, Amoroso A, Salizzoni M
Am J Transplant 2014 Apr;14(4):960-5. Epub 2014 Mar 12 doi: 10.1111/ajt.12645. PMID: 24621408

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