ORPHA:909
Cerebrotendinous xanthomatosis
Synonyms: CTX · Sterol 27-hydroxylase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebrotendinous xanthomatosis | CTX · Sterol 27-hydroxylase deficiency |
| fr | Xanthomatose cérébrotendineuse | CTX · Déficit en stérol 27-hydroxylase |
| de | Xanthomatose, zerebrotendinöse | Sterol-27-Hydroxylase-Mangel |
| es | Xantomatosis cerebrotendinosa | Deficiencia de esterol 27-hidroxilasa |
| it | Xantomatosi cerebrotendinea | Deficit di sterolo 27-idrossilasi |
| nl | Cerebrotendineuze xanthomatose | CTX · Sterol 27-hydroxylasedeficiëntie |
| pt | Xantomatose cerebrotendinosa | Deficiência de esterol 27-hidroxilase |
| pl | Ksantomatoza mózgowo-ścięgnista | CTX · Niedobór 27-hydroksylazy sterolowej |
| cs | Cerebrotendinózní xantomatóza | CTX · Deficit sterol 27-hydroxylázy |
| uk | Церебротендінозний ксантоматоз | CTX · Дефіцит стерол 27-гідроксилази |
| zh | 脑腱性黄瘤病 | 甾醇27-羟化酶缺乏症 |
| tr | Serebrotendinöz ksantomatoz | CTX · Sterol 27-hidroksilaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 213700 | E | validated | |
| ICD-10 | E75.5 | NTBT | inclusion | validated |
| ICD-11 | 5C52.11 | NTBT | index | validated |
| MONDO | 0008948 | E | validated | |
| MeSH | D019294 | E | validated | |
| UMLS | C0238052 | E | validated | |
| GARD | 5622 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (12):
- ORPHA:98096Autosomal recessive metabolic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:163631Bile acid synthesis defect with cholestasis and malabsorption
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders - ORPHA:98544Cerebral lipidosis with dementia
rare genetic diseases; rare neurological diseases - ORPHA:183484Genetic subcutaneous tissue disorder
rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:181437Rare syndromic dyslipidemia
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:225710Sterol metabolism disorder with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:79382Subcutaneous tissue disease
rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP27A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2605 | ENSG00000135929 | 606530 | 2q35 | cytochrome P450 family 27 subfamily A member 1 | 20301583[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Specific population | Value and class | Validated | 16157755[PMID]_[EXPERT] |
| Point prevalence | <1 / 1 000 000 | 0.056 / 100 000 | Spain | Value and class | Validated | 21645175[PMID] |
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | United States | Value and class | Validated | 16157755[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
91 annotations · validated 2021-04-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0001118 | Juvenile cataract | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0006958 | Abnormal auditory evoked potentials | |
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002453 | Abnormal globus pallidus morphology | |
| HP:0012896 | Abnormal motor evoked potentials | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0001167 | Abnormality of finger | |
| HP:0007377 | Abnormality of somatosensory evoked potentials | |
| HP:0005109 | Abnormality of the Achilles tendon | |
| HP:0011931 | Abnormality of the cerebellar peduncle | |
| HP:0100872 | Abnormality of the plantar skin of foot | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0003487 | Babinski sign | |
| HP:0002028 | Chronic diarrhea | |
| HP:0100543 | Cognitive impairment | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0003693 | Distal amyotrophy | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0001288 | Gait disturbance | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000639 | Nystagmus | |
| HP:0000543 | Optic disc pallor | |
| HP:0001138 | Optic neuropathy | |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0000939 | Osteoporosis | |
| HP:0002385 | Paraparesis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001761 | Pes cavus | |
| HP:0007272 | Progressive psychomotor deterioration | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0001328 | Specific learning disability | |
| HP:0010874 | Tendon xanthomatosis | |
| Occasional (29-5%) | ||
| HP:0011994 | Abnormal atrial septum morphology | |
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0100321 | Abnormality of the dentate nucleus | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0001155 | Abnormality of the hand | |
| HP:0000464 | Abnormality of the neck | |
| HP:0008516 | Abnormality of the vertebral spinous processes | |
| HP:0000718 | Aggressive behavior | |
| HP:0000713 | Agitation | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0040078 | Axonal degeneration | |
| HP:0007305 | CNS demyelination | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001081 | Cholelithiasis | |
| HP:0000716 | Depression | |
| HP:0012706 | Elevated brain choline level by MRS | |
| HP:0012707 | Elevated brain lactate level by MRS | |
| HP:0002171 | Gliosis | |
| HP:0002283 | Global brain atrophy | |
| HP:0000738 | Hallucinations | |
| HP:0007922 | Hypermyelinated retinal nerve fibers | |
| HP:0000821 | Hypothyroidism | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0002423 | Long-tract signs | |
| HP:0200125 | Mitochondrial respiratory chain defects | |
| HP:0000648 | Optic atrophy | |
| HP:0000938 | Osteopenia | |
| HP:0001300 | Parkinsonism | |
| HP:0012075 | Personality disorder | |
| HP:0004416 | Precocious atherosclerosis | |
| HP:0005181 | Premature coronary artery atherosclerosis | |
| HP:0006480 | Premature loss of teeth | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0000520 | Proptosis | |
| HP:0002322 | Resting tremor | |
| HP:0000736 | Short attention span | |
| HP:0031589 | Suicidal ideation | |
| HP:0002942 | Thoracic kyphosis | |
| Very rare (<4-1%) | ||
| HP:0002088 | Abnormal lung morphology | |
| HP:0002196 | Myelopathy | |
| HP:0010530 | Palatal myoclonus | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0002313 | Spastic paraparesis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301583[PMID]_33232000[PMID]_28980151[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/909
- This record as JSON: /data/d/909.json