Trichodermodysplasia - dental alterations
General Information (adopted from Orphanet):
Synonyms, Signs: |
Pinheiro-Freire Maia-Miranda syndrome |
Number of Symptoms | 19 |
OrphanetNr: | 3353 |
OMIM Id: |
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ICD-10: |
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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: | No data available. |
Inheritance: |
Autosomal dominant inheritance |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease 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 |
Symptom Information:
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(HPO:0000130) | Abnormality of the uterus | Occasional [Orphanet] | 86 / 7739 | |||
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(HPO:0006482) | Abnormality of dental morphology | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0009720) | Adenoma sebaceum | Occasional [Orphanet] | 12 / 7739 | |||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000684) | Delayed eruption of teeth | Frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0011069) | Increased number of teeth | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0005338) | Sparse lateral eyebrow | Frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0200102) | Sparse or absent eyelashes | Very frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0000540) | Hypermetropia | Occasional [Orphanet] | 99 / 7739 | |||
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(HPO:0003307) | Hyperlordosis | Frequent [Orphanet] | 122 / 7739 | |||
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Occasional [Orphanet] | 242 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0008069) | Neoplasm of the skin | Very frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0002213) | Fine hair | Very frequent [Orphanet] | 77 / 7739 | |||
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(HPO:0002299) | Brittle hair | Very frequent [Orphanet] | 52 / 7739 | |||
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(HPO:0000957) | Cafe-au-lait spot | Occasional [Orphanet] | 84 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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