Steroid dehydrogenase deficiency-dental anomalies syndrome
historical
Synonyms: Lyngstadaas syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Steroid dehydrogenase deficiency-dental anomalies syndrome | Lyngstadaas syndrome |
| fr | Syndrome de déficit en stéroïde déshydrogénase-anomalies dentaires | Syndrome de Lyngstadaas |
| de | Steroid-Dehydrogenase-Mangel-Zahnanomalien-Syndrom | Lyngstadaas-Syndrom |
| es | Síndrome de deficiencia de esteroide deshidrogenasa-anomalías dentales | Síndrome de Lyngtadaas |
| it | Sindrome deficit di steroido deidrogenasi-anomalie dentali | Sindrome di Lyngtadaas |
| nl | Steroïdedehydrogenasedeficiëntie - dentale anomalieën-syndroom | Syndroom van Lyngstadaas |
| pt | Síndrome de deficiência de esteróide desidrogenase-anomalias dentárias | Síndrome Lyngstadaas |
| pl | Niedobór dehydrogenazy steroidowej - wady zębów | Zespół Lyngstadaasa |
| cs | Syndrom zahrnující deficit steroidní dehydrogenázy a zubní anomálie | Lyngstadaasův syndrom |
| uk | Синдром дефіциту стероїдної дегідрогенази - зубні аномалії | Синдром Лінгстадааса |
| zh | 甾类脱氢酶缺乏-牙齿畸形综合征 | Lyngstadaas综合征 |
| tr | Steroid dehidrojenaz eksikliği-diş anomalileri sendromu | Lyngstadaas sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K76.8 | NTBT | attributed | validated |
| MONDO | 0017904 | E | validated | |
| MeSH | C537490 | E | validated | |
| UMLS | C2931508 | E | validated | |
| GARD | 5015 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 8832133[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8832133[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0001399 | Hepatic failure | |
| HP:0011069 | Supernumerary tooth | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3196
- This record as JSON: /data/d/3196.json