ORPHA:46059
Lathosterolosis
Synonyms: Sterol C5-desaturase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lathosterolosis | Sterol C5-desaturase deficiency |
| fr | Lathostérolose | Déficit en stérol C5-désaturase |
| de | Lathosterolose | Sterol C5-Desaturase-Mangel |
| es | Latosterolosis | Deficiencia de esterol-C5-desaturasa |
| it | Latosterolosi | Deficit di sterolo C5-desaturasi |
| nl | Lathosterolose | Deficiëntie van sterol C5-desaturase |
| pt | Latosterolose | Esterol C-5 dessaturase |
| pl | Latosteroloza | Niedobór C5-desaturazy sterolowej |
| cs | Lathosterolóza | Deficit sterol C5-desaturázy |
| uk | Латостеролоз | Дефіцит стерол С5-десатурази |
| zh | 3β-羟类固醇脱氢酶缺陷症 | 3β-羟类固醇脱氢酶缺乏症 |
| tr | Latosteroloz | Sterol C5-desatüraz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607330 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.10 | NTBT | index | validated |
| MONDO | 0011816 | E | validated | |
| MeSH | C537880 | E | validated | |
| UMLS | C1846421 | E | validated | |
| GARD | 9711 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:79195Sterol biosynthesis disorder
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SC5D | Disease-causing germline mutation(s) in | Assessed | HGNC:10547 | ENSG00000109929 | 602286 | 11q23.3-q24.1 | sterol-C5-desaturase | 12812989[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24142275[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
45 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000518 | Cataract | |
| HP:0001263 | Global developmental delay | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000252 | Microcephaly | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0011875 | Abnormal platelet morphology | |
| HP:0100711 | Abnormality of the thoracic spine | |
| HP:0004823 | Anisopoikilocytosis | |
| HP:0000463 | Anteverted nares | |
| HP:0004422 | Biparietal narrowing | |
| HP:0000414 | Bulbous nose | |
| HP:0008278 | Cerebellar cortical atrophy | |
| HP:0002514 | Cerebral calcification | |
| HP:0002308 | Chiari malformation | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0000293 | Full cheeks | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000365 | Hearing impairment | |
| HP:0001399 | Hepatic failure | |
| HP:0002240 | Hepatomegaly | |
| HP:0000218 | High palate | |
| HP:0000085 | Horseshoe kidney | |
| HP:0001252 | Hypotonia | |
| HP:0001406 | Intrahepatic cholestasis | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000343 | Long philtrum | |
| HP:0002435 | Meningocele | |
| HP:0000482 | Microcornea | |
| HP:0000347 | Micrognathia | |
| HP:0001336 | Myoclonus | |
| HP:0000341 | Narrow forehead | |
| HP:0007759 | Opacification of the corneal stroma | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000508 | Ptosis | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0000340 | Sloping forehead | |
| HP:0001883 | Talipes | |
| HP:0001873 | Thrombocytopenia | |
| HP:0001770 | Toe syndactyly | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 24142275[PMID]_17853487[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/46059
- This record as JSON: /data/d/46059.json