Milroy disease
General Information (adopted from Orphanet):
Synonyms, Signs: |
Nonne-Milroy lymphedema Hereditary lymphedema type I |
Number of Symptoms | 10 |
OrphanetNr: | 79452 |
OMIM Id: |
153100
247440 611944 613480 |
ICD-10: |
Q82.0 |
UMLs: |
C1704423 |
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: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Congenital primary lymphedema
-Rare circulatory system disease -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000034) | Hydrocele testis | 18 / 7739 | ||||
|
(HPO:0001560) | Abnormality of the amniotic fluid | 7 / 7739 | ||||
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(HPO:0001790) | Nonimmune hydrops fetalis | 15 / 7739 | ||||
|
(HPO:0001597) | Abnormality of the nail | 115 / 7739 | ||||
|
(HPO:0001028) | Hemangioma | 23 / 7739 | ||||
|
(HPO:0007448) | Hyperkeratosis over edematous areas | 2 / 7739 | ||||
|
(HPO:0003550) | Predominantly lower limb lymphedema | 5 / 7739 | ||||
|
(HPO:0003759) | Hypoplasia of lymphatic vessels | 4 / 7739 | ||||
|
(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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