loading...| Preferred Name | LYMPHATIC MALFORMATION 1 | |
| Synonyms |
LMPHM1 PRIMARY CONGENITAL LYMPHEDEMA LYMPHEDEMA, EARLY-ONSET NONNE-MILROY LYMPHEDEMA PCL LYMPHEDEMA, HEREDITARY, TYPE I, FORMERLY LMPH1A, FORMERLY LYMPHEDEMA, HEREDITARY, IA, FORMERLY MILROY DISEASE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/153100 |
|
| altLabel |
LMPHM1 PRIMARY CONGENITAL LYMPHEDEMA LYMPHEDEMA, EARLY-ONSET NONNE-MILROY LYMPHEDEMA PCL LYMPHEDEMA, HEREDITARY, TYPE I, FORMERLY LMPH1A, FORMERLY LYMPHEDEMA, HEREDITARY, IA, FORMERLY MILROY DISEASE |
|
| cui |
C1704423 |
|
| Gene Locus |
5q35.3 |
|
| Gene Symbol |
LMPHM1 PCL CHTD7 FLT4 VEGFR3 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036912 http://purl.bioontology.org/ontology/OMIM/MTHU017339 http://purl.bioontology.org/ontology/OMIM/MTHU017363 http://purl.bioontology.org/ontology/OMIM/MTHU017357 http://purl.bioontology.org/ontology/OMIM/MTHU017362 http://purl.bioontology.org/ontology/OMIM/MTHU017361 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
153100 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
LYMPHATIC MALFORMATION 1 |
|
| Scope Statement |
Onset usually at birth [MISCELLANEOUS] More prevalent in females [MISCELLANEOUS] Spontaneous resorption (rare) [MISCELLANEOUS] Later onset may occur [MISCELLANEOUS] Variable expression and severity [MISCELLANEOUS] Caused by mutation in the FMS-like tyrosine kinase-4 gene (FLT4, 136352.0005) [MOLECULAR BASIS] Lymphedema that presents at puberty is called Meige disease (153200) [MISCELLANEOUS] |
|
| tui |
T047 |