Ectodermal dysplasia with natal teeth, Turnpenny type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 25 |
| OrphanetNr: | 69083 |
| OMIM Id: |
601345
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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 [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
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:0000677) | Oligodontia | 41 / 7739 | ||||
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(HPO:0100038) | Slow-growing scalp hair | 1 / 7739 | ||||
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(HPO:0000535) | Sparse and thin eyebrow | 76 / 7739 | ||||
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(HPO:0000653) | Sparse eyelashes | 58 / 7739 | ||||
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(HPO:0004437) | Cranial hyperostosis | 55 / 7739 | ||||
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(HPO:0000695) | Natal tooth | 42 / 7739 | ||||
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(HPO:0004482) | Relative macrocephaly | 44 / 7739 | ||||
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(HPO:0000668) | Hypodontia | 81 / 7739 | ||||
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(HPO:0002209) | Sparse scalp hair | 59 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0001597) | Abnormality of the nail | 115 / 7739 | ||||
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(HPO:0000956) | Acanthosis nigricans | 54 / 7739 | ||||
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(HPO:0007387) | Hypoplastic sweat glands | 1 / 7739 | ||||
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(HPO:0000968) | Ectodermal dysplasia | 46 / 7739 | ||||
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(HPO:0007515) | Hypoplastic pilosebaceous units | 1 / 7739 | ||||
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(OMIM) | Normal nails | 15 / 7739 | ||||
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(OMIM) | Multiple natal teeth | 1 / 7739 | ||||
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(OMIM) | Flaked, cracked, missing cuticular scales | 1 / 7739 | ||||
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(OMIM) | Scant axillary hair | 1 / 7739 | ||||
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(OMIM) | Scant pubic hair | 2 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Flexural acanthosis nigricans (females, childhood-early adolescence) | 1 / 7739 | ||||
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(OMIM) | Normal sweating capacity | 3 / 7739 | ||||
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(OMIM) | Thin, slow-growing scalp hair | 1 / 7739 | ||||
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(OMIM) | Thin, sparse eyelashes | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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