LYMPHEDEMA, HEREDITARY, IC

General Information (adopted from Orphanet):

Synonyms, Signs: LMPH1C
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613480
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001581) Recurrent skin infections 9 / 7739
2
(HPO:0001004) Lymphedema 62 / 7739
3
(HPO:0100658) Cellulitis 7 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(HPO:0003829) Incomplete penetrance 85 / 7739
6
(OMIM) Lymphedema of the hands (in some patients) 1 / 7739
7
(OMIM) Lymphedema of the lower limbs 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ferrell et al. (2010) reported 2 unrelated families with autosomal dominant inheritance of lymphedema. In 1 family, age at onset ranged from before 1 year to 15 years. Affected individuals had onset of uncomplicated lymphedema of the lower ...
Molecular genetics OMIM In affected members of 2 large families with autosomal dominant hereditary lymphedema type IC, Ferrell et al. (2010) identified 2 different heterozygous mutations in the GJC2 gene (608803.0009 and 608803.0010, respectively). Both mutations affected the extracellular domain. Incomplete ...