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LMPHM11
MCID: LYM160
MIFTS: 17
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Lymphatic Malformation 11 (LMPHM11)
Categories:
Cancer diseases, Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases
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MalaCards integrated aliases for Lymphatic Malformation 11:Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in 2nd or 3rd decade of life subclinical lymphatic defects in some affected individuals Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Fetal diseases Anatomical: Immune diseases Cardiovascular diseases Reproductive diseases Skin diseases Neuronal diseases Gastrointestinal diseases Respiratory diseases Oral diseases |
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UniProtKB/Swiss-Prot: 73 A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM11 is an autosomal dominant form characterized by onset of lower extremity edema in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations. MalaCards based summary: Lymphatic Malformation 11, is also known as lmphm11. An important gene associated with Lymphatic Malformation 11 is TIE1 (Tyrosine Kinase With Immunoglobulin Like And EGF Like Domains 1). Related phenotypes are lymphedema and pedal edema OMIM®: 57 Lymphatic malformation-11 (LMPHM11) is characterized by lower extremity edema, with onset in the second or third decade of life. Some affected individuals may have subclinical lymphatic malformations (Michelini et al., 2020). For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100). (619401) (Updated 08-Dec-2022) |
Human phenotypes related to Lymphatic Malformation 11:30
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Articles related to Lymphatic Malformation 11:
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Genes related to Lymphatic Malformation 11 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lymphatic Malformation 11:5
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Search
GEO
for disease gene expression data for Lymphatic Malformation 11.
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