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LMPH1A
MCID: LYM144
MIFTS: 41
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Lymphatic Malformation 1 (LMPH1A)
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 1:
Name: Lymphatic Malformation 1
58
Characteristics:OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
onset usually at birth later onset may occur variable expression and severity more prevalent in females spontaneous resorption (rare) lymphedema that presents at puberty is called meige disease HPO:33
lymphatic malformation 1:
Onset and clinical course congenital onset Inheritance autosomal dominant inheritance GeneReviews:25
Penetrance
Approximately 85%-90% of individuals who have a pathogenic variant in flt4 develop lower-limb lymphedema by age three years; conversely, 10%-15% of individuals with an flt4 pathogenic variant are clinically unaffected...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Fetal diseases Anatomical: Neuronal diseases Reproductive diseases Immune diseases Oral diseases Gastrointestinal diseases Cardiovascular diseases |
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NIH Rare Diseases
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54
Milroy disease is a lymphatic disease that causes swelling (lymphedema) in the lower legs and feet. Lymphedema is usually present at birth or develops in infancy. It typically occurs on both sides of the body and can worsen over time. Other symptoms may include accumulation of fluid in the scrotum in males (hydrocele), upslanting toenails, deep creases in the toes, wart-like growths, prominent leg veins, and/or cellulitis. Milroy disease is sometimes caused by changes (mutations) in the FLT4 gene and is inherited in an autosomal dominant manner. In many cases, the cause remains unknown. Treatment may include lymphedema therapy to improve function and alleviate symptoms.
MalaCards based summary : Lymphatic Malformation 1, also known as milroy disease, is related to hereditary lymphedema ii and hereditary lymphedema ic. An important gene associated with Lymphatic Malformation 1 is FLT4 (Fms Related Tyrosine Kinase 4). The drugs Paroxetine and Neurotransmitter Uptake Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin, prostate and testis, and related phenotypes are cellulitis and papilloma Genetics Home Reference : 26 Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema in their lower legs and feet at birth or develop it in infancy. The lymphedema typically occurs on both sides of the body and may worsen over time. OMIM : 58 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). (153100) UniProtKB/Swiss-Prot : 76 Lymphedema, hereditary, 1A: 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.
GeneReviews:
NBK1239
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Human phenotypes related to Lymphatic Malformation 1:33 (show all 11)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:153100 |
Drugs for Lymphatic Malformation 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 25)
Interventional clinical trials:(show all 14)
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MalaCards organs/tissues related to Lymphatic Malformation 1:42
Skin,
Prostate,
Testis,
Lung,
Spinal Cord,
Adrenal Gland
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Articles related to Lymphatic Malformation 1:(show all 22)
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UniProtKB/Swiss-Prot genetic disease variations for Lymphatic Malformation 1:76 (show all 11)
ClinVar genetic disease variations for Lymphatic Malformation 1:6 (show all 20)
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Search
GEO
for disease gene expression data for Lymphatic Malformation 1.
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