X-linked diffuse leiomyomatosis - Alport syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Xq22.3 microdeletion syndrome |
| Number of Symptoms | 3 |
| OrphanetNr: | 1018 |
| OMIM Id: |
150700
308940 |
| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 0.1 of 100 000 [Orphanet] |
| Inheritance: |
X-linked X-linked dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT Basement membrane disease -Rare genetic disease -Rare renal disease Partial deletion of the long arm of chromosome X -Rare developmental defect during embryogenesis -Rare genetic disease |
Comment:
| To be done |
Symptom Information:
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(HPO:0000057) | Clitoromegaly | 30 / 7739 | ||||
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(HPO:0005240) | Esophageal obstruction | 2 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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