Waardenburg syndrome type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 25 |
| OrphanetNr: | 895 |
| OMIM Id: |
193510
600193 606662 608890 611584 |
| ICD-10: |
E70.3 |
| UMLs: |
C2700265 |
| MeSH: |
C536463 |
| 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: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Waardenburg syndrome
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease -Rare skin disease |
Symptom Information:
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(HPO:0000077) | Abnormality of the kidney | Occasional [Orphanet] | 73 / 7739 | |||
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(HPO:0002226) | White eyebrow | 10 / 7739 | ||||
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(HPO:0000664) | Synophrys | 112 / 7739 | ||||
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(HPO:0000430) | Underdeveloped nasal alae | 90 / 7739 | ||||
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(HPO:0000506) | Telecanthus | Occasional [Orphanet] | 156 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0002227) | White eyelashes | 11 / 7739 | ||||
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(HPO:0000508) | Ptosis | Occasional [Orphanet] | 459 / 7739 | |||
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(HPO:0001100) | Heterochromia iridis | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0007990) | Hypoplastic iris stroma | 9 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0008527) | Congenital sensorineural hearing impairment | 165 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0002251) | Aganglionic megacolon | Occasional [Orphanet] | 78 / 7739 | |||
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(HPO:0002211) | White forelock | 18 / 7739 | ||||
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(HPO:0001053) | Hypopigmented skin patches | Frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0005599) | Hypopigmentation of hair | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0007443) | Partial albinism | 8 / 7739 | ||||
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(HPO:0001022) | Albinism | 43 / 7739 | ||||
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(HPO:0002216) | Premature graying of hair | Very frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0011365) | Patchy hypopigmentation of hair | Frequent [Orphanet] | 8 / 7739 | |||
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(HPO:0004414) | Abnormality of the pulmonary artery | Occasional [Orphanet] | 50 / 7739 | |||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0001425) | Heterogeneous | 132 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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