Steroid dehydrogenase deficiency - dental anomalies
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Lyngstadaas syndrome |
| Number of Symptoms | 3 |
| OrphanetNr: | 3196 |
| OMIM Id: |
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 1 family [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic malformation syndrome with odontal and/or periodontal component
-Rare genetic disease Malformation syndrome with odontal and/or periodontal component -Rare developmental defect during embryogenesis -Rare odontologic disease Metabolic liver disease -Rare genetic disease -Rare hepatic disease |
Symptom Information:
|
|
(HPO:0011069) | Increased number of teeth | Very frequent [Orphanet] | 39 / 7739 | |||
|
|
(HPO:0000682) | Abnormality of dental enamel | Very frequent [Orphanet] | 102 / 7739 | |||
|
|
(HPO:0001399) | Hepatic failure | Very frequent [Orphanet] | 80 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|