LYMPHEDEMA, HEREDITARY, IA

General Information (adopted from Orphanet):

Synonyms, Signs: NONNE-MILROY LYMPHEDEMA
LYMPHEDEMA, EARLY-ONSET
LMPH1A
MILROY DISEASE
PRIMARY CONGENITAL LYMPHEDEMA
PCL
Number of Symptoms 9
OrphanetNr:
OMIM Id: 153100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000034) Hydrocele testis 18 / 7739
2
(HPO:0100673) Vaginal hydrocele 8 / 7739
3
(HPO:0001790) Nonimmune hydrops fetalis 15 / 7739
4
(HPO:0001028) Hemangioma 23 / 7739
5
(HPO:0007448) Hyperkeratosis over edematous areas 2 / 7739
6
(OMIM) Papillomatosis over edematous areas 1 / 7739
7
(OMIM) Lymphography shows hypoplasia of lymphatic vessels 2 / 7739
8
(OMIM) Upturned toenails 1 / 7739
9
(OMIM) Lymphedema, predominantly in the lower limbs 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Milroy (1892), a physician in Omaha, Nebraska, described the disorder in 6 generations of a family. Also see Milroy (1928). Rosen et al. (1962) observed congenital chylous ascites in an affected infant whose father had recurrent swelling of ...
Molecular genetics OMIM In a family with hereditary lymphedema, Ferrell et al. (1998) identified a mutation in the FLT4 gene (136352.0001). In several families with autosomal dominant hereditary lymphedema, Karkkainen et al. (2000) identified different mutations in the FLT4 gene (see, ...