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LMPHM3
MCID: LYM147
MIFTS: 22
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Lymphatic Malformation 3 (LMPHM3)
Categories:
Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases
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MalaCards integrated aliases for Lymphatic Malformation 3:
Characteristics:OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant
Miscellaneous:
reduced penetrance onset in first or second decades females tend to have earlier onset HPO:31
lymphatic malformation 3:
Inheritance autosomal dominant inheritance Onset and clinical course incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Immune diseases Neuronal diseases Cardiovascular diseases Reproductive diseases Skin diseases Gastrointestinal diseases Respiratory diseases |
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OMIM® :
57
Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014).
For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. (613480) (Updated 05-Apr-2021)
MalaCards based summary : Lymphatic Malformation 3, also known as lmphm3, is related to hereditary lymphedema ic. An important gene associated with Lymphatic Malformation 3 is GJC2 (Gap Junction Protein Gamma 2). Affiliated tissues include endothelial, and related phenotypes are lymphedema and cellulitis UniProtKB/Swiss-Prot : 72 Lymphatic malformation 3: 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. LMPHM3 is an autosomal dominant form with variable severity and reduced penetrance. Affected individuals manifest lymphedema of the lower limbs and some patients have lymphedema of the hands. |
Diseases in the Rare Lymphatic Malformation family:
Diseases related to Lymphatic Malformation 3 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Lymphatic Malformation 3:31
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MalaCards organs/tissues related to Lymphatic Malformation 3:40
Endothelial
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Articles related to Lymphatic Malformation 3:
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Genes related to Lymphatic Malformation 3 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lymphatic Malformation 3:6
UniProtKB/Swiss-Prot genetic disease variations for Lymphatic Malformation 3:72
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Search
GEO
for disease gene expression data for Lymphatic Malformation 3.
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