Piebald trait - neurologic defects
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Telfer-Sugar-Jaeger syndrome
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Number of Symptoms
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25
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OrphanetNr:
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2885
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OMIM Id:
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172850
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Genetic hypopigmentation of the skin
-Rare genetic disease
Hypopigmentation of the skin
-Rare skin disease
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1
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(HPO:0000534)
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Abnormality of the eyebrow |
Frequent [Orphanet]
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39 / 7739
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2
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(HPO:0000606)
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Abnormality of the periorbital region |
Occasional [Orphanet]
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96 / 7739
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3
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(HPO:0001100)
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Heterochromia iridis |
Occasional [Orphanet]
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31 / 7739
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4
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(HPO:0000365)
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Hearing impairment |
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539 / 7739
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5
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(HPO:0000407)
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Sensorineural hearing impairment |
Frequent [Orphanet]
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524 / 7739
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6
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(HPO:0002066)
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Gait ataxia |
Frequent [Orphanet]
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327 / 7739
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7
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(HPO:0002251)
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Aganglionic megacolon |
Occasional [Orphanet]
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78 / 7739
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8
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(HPO:0001249)
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Intellectual disability |
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1089 / 7739
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9
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(HPO:0001251)
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Ataxia |
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413 / 7739
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10
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(HPO:0002211)
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White forelock |
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18 / 7739
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11
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(HPO:0008069)
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Neoplasm of the skin |
Occasional [Orphanet]
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84 / 7739
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12
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(HPO:0001029)
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Poikiloderma |
Very frequent [Orphanet]
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23 / 7739
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13
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(HPO:0000992)
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Cutaneous photosensitivity |
Very frequent [Orphanet]
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75 / 7739
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14
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(HPO:0007542)
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Absent pigmentation of the ventral chest |
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2 / 7739
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15
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(HPO:0005599)
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Hypopigmentation of hair |
Very frequent [Orphanet]
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38 / 7739
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16
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(HPO:0007400)
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Irregular hyperpigmentation |
Frequent [Orphanet]
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72 / 7739
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17
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(HPO:0001053)
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Hypopigmented skin patches |
Very frequent [Orphanet]
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80 / 7739
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18
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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19
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(OMIM)
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Hyperpigmented borders of unpigmented areas |
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2 / 7739
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20
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(MedDRA:10025421)
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Macule |
Frequent [Orphanet]
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55 / 7739
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21
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(OMIM)
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Piebald trait |
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1 / 7739
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22
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(OMIM)
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Dorsal leukoderma |
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1 / 7739
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23
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(OMIM)
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Absent pigmentation of medial forehead, eyebrows and chin |
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2 / 7739
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24
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(OMIM)
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Absent pigmentation of ventral chest, abdomen and limbs |
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2 / 7739
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25
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(HPO:0012758)
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Neurodevelopmental delay |
Frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |