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LMPH1C
MCID: LYM147
MIFTS: 21
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Lymphatic Malformation 3 (LMPH1C)
Categories:
Cancer diseases, Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Lymphatic Malformation 3:
Name: Lymphatic Malformation 3
58
Characteristics:OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
reduced penetrance onset in first or second decades females tend to have earlier onset HPO:33
lymphatic malformation 3:
Onset and clinical course incomplete penetrance Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases Anatomical: Immune diseases Neuronal diseases Reproductive diseases Oral diseases Gastrointestinal diseases Cardiovascular diseases |
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OMIM
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58
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)
MalaCards based summary : Lymphatic Malformation 3, also known as lymphedema, hereditary, ic, is related to hereditary lymphedema ic. An important gene associated with Lymphatic Malformation 3 is GJC2 (Gap Junction Protein Gamma 2). Affiliated tissues include skin, and related phenotypes are lymphedema and cellulitis UniProtKB/Swiss-Prot : 76 Lymphedema, hereditary, 1C: A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment. |
Diseases in the Lymphatic Malformations 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 3:33
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MalaCards organs/tissues related to Lymphatic Malformation 3:42
Skin
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UniProtKB/Swiss-Prot genetic disease variations for Lymphatic Malformation 3:76
ClinVar genetic disease variations for Lymphatic Malformation 3:6
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Search
GEO
for disease gene expression data for Lymphatic Malformation 3.
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