Ectodermal dysplasia, Berlin type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Leukomelanoderma - intellectual deficit - hypotrichosis |
| Number of Symptoms | 22 |
| OrphanetNr: | 1816 |
| OMIM Id: |
246500
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| ICD-10: |
Q82.4 |
| 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: | 4 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000789) | Infertility | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0000787) | Nephrolithiasis | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0000684) | Delayed eruption of teeth | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000457) | Depressed nasal ridge | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000668) | Hypodontia | 81 / 7739 | ||||
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(HPO:0009804) | Reduced number of teeth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000534) | Abnormality of the eyebrow | Very frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0011362) | Abnormal hair quantity | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | 219 / 7739 | ||||
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(HPO:0001010) | Hypopigmentation of the skin | Very frequent [Orphanet] | 46 / 7739 | |||
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(HPO:0007400) | Irregular hyperpigmentation | Very frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0009721) | Shagreen patch | Very frequent [Orphanet] | 11 / 7739 | |||
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(OMIM) | Congenital generalized melanoleukoderma | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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