cerebrotendinous xanthomatosis
Findings
No curated finding names cerebrotendinous xanthomatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0008948), read 2026-09-29. CC BY 4.0.
- Onset and course
- Late young adult onset
HPO, annotations 2026-09-02
Features
105 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.
- Ankle clonusHPOHP:0011448
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- EEG with generalized slow activityHPOHP:0010845
- 1 of 1 reported patient
- Elevated CSF cholestanol concentrationHPOHP:6000203
- 2 of 2 reported patients
Show the remaining 93
- Abnormal Achilles tendon morphologyHPOHP:0005109
- Frequent (30% to 79% of cases)
- Abnormal auditory evoked potentialsHPOHP:0006958
- Frequent (30% to 79% of cases)
- Abnormal cerebellar peduncle morphologyHPOHP:0011931
- Frequent (30% to 79% of cases)
- Abnormal cerebellum morphologyHPOHP:0001317
- Frequent (30% to 79% of cases)
- Abnormal finger morphologyHPOHP:0001167
- Frequent (30% to 79% of cases)
- Abnormal globus pallidus morphologyHPOHP:0002453
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.
- CYP27A1HGNC:2605
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2022
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: cerebrotendinous xanthomatosis
- Also called
- cholestanol storage diseaseCTXsterol 27-hydroxylase deficiency