LMPM
MCID: LYM094
MIFTS: 43
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Lymphedema, Primary, with Myelodysplasia (LMPM)
Categories:
Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Lymphedema, Primary, with Myelodysplasia:
Characteristics:Inheritance:
Lymphedema, Primary, with Myelodysplasia:
Autosomal dominant 57
Deafness-Lymphedema-Leukemia Syndrome:
Autosomal dominant 58
Prevelance:
Deafness-Lymphedema-Leukemia Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Deafness-Lymphedema-Leukemia Syndrome:
Childhood 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Cardiovascular diseases Ear diseases Skin diseases Blood diseases
ICD10:
32
Orphanet: 58
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GARD: 19 Deafness-lymphedema-leukemia syndrome is a very rare genetic disorder characterized by swelling (lymphedema), a weak immune system (immunodeficiency), and blood disorders. Signs and symptoms may include congenital deafness, swelling of the legs and genitalia, a type of cancer known as acute myeloblastic leukemia, reduction of the blood cells (pancitopenia), scarring of the liver (cirrhosis), heart problems and cerebellar atrophy (volume loss of the cerebellum which is part of the brain). Patients may also have closely spaced eyes (hypotelorism), skin folds in the inner corner of the eyes, long tapering fingers and/or neck webbing, recurrent infections in the swelled legs, and many warts. It is caused by a genetic change in the GATA2 gene and it is inherited in an autosomal dominant way. MalaCards based summary: Lymphedema, Primary, with Myelodysplasia, also known as emberger syndrome, is related to immunodeficiency 21 and myelodysplastic syndrome. An important gene associated with Lymphedema, Primary, with Myelodysplasia is GATA2 (GATA Binding Protein 2). Affiliated tissues include myeloid, skin and cerebellum, and related phenotypes are neurological speech impairment and sensorineural hearing impairment OMIM®: 57 Primary lymphedema with myelodysplasia, also known as Emberger syndrome, is a rare disorder characterized by childhood-onset lymphedema of the lower limbs, with lymphoscintigraphy suggestive of lymphatic vessel hypoplasia, and genital lymphatic abnormalities. Myelodysplasia is usually with monosomy 7. Multiple warts, deafness, and minor anomalies (mild hypotelorism, neck webbing, and slender fingers) may also be present (summary by Mansour et al., 2010). (614038) (Updated 08-Dec-2022) Orphanet: 58 A rare genetic disease characterized by the association of primary lymphedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing. UniProtKB/Swiss-Prot: 73 A chronic disabling condition characterized by swelling of the extremities due to altered lymphatic flow, associated with myelodysplasia. Patients with lymphedema suffer from recurrent local infections, and physical impairment. Wikipedia: 75 The Emberger syndrome is a rare, autosomal dominant, genetic disorder caused by familial or sporadic... more... |
Human phenotypes related to Lymphedema, Primary, with Myelodysplasia:58 30 (show all 39)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:614038 (Updated 08-Dec-2022) |
Interventional clinical trials:
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Organs/tissues related to Lymphedema, Primary, with Myelodysplasia:
MalaCards :
Myeloid,
Skin,
Cerebellum,
Bone Marrow,
Liver,
Heart,
Brain
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Articles related to Lymphedema, Primary, with Myelodysplasia:(show top 50) (show all 146)
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ClinVar genetic disease variations for Lymphedema, Primary, with Myelodysplasia:5 (show top 50) (show all 1037)
UniProtKB/Swiss-Prot genetic disease variations for Lymphedema, Primary, with Myelodysplasia:73
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