lathosterolosis
Findings
No curated finding names lathosterolosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
Definition from the Mondo Disease Ontology (MONDO:0011816), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Second trimester onset
HPO, annotations 2026-09-02
Features
67 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Alveolar ridge overgrowthHPOHP:0009085
- 1 of 1 reported patient
- Ambiguous genitalia, maleHPOHP:0000033
- 1 of 1 reported patient
- AnisopoikilocytosisHPOHP:0004823
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Butterfly vertebraeHPOHP:0003316
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 55
- Hepatic fibrosisHPOHP:0001395
- 1 of 1 reported patient
- HyperammonemiaHPOHP:0001987
- 1 of 1 reported patient
- HyperbilirubinemiaHPOHP:0002904
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SC5DHGNC:10547
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: lathosterolosis
- Also called
- sterol C5-desaturase deficiency