Lymphangioleiomyomatosis
Description
Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).
Clinical Features
Top most frequent phenotypes and symptoms related to Lymphangioleiomyomatosis
- Seizures
- Pain
- Cognitive impairment
- Fever
- Optic atrophy
- Fatigue
- Respiratory distress
- Hydrocephalus
- Recurrent respiratory infections
- Abdominal pain
And another 36 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available LYMPHANGIOLEIOMYOMATOSIS have a estimated incidence of 0.0135 per 100k in Europe.— No data available about the known clinical features onset.
Alternative names
Lymphangioleiomyomatosis Is also known as lam, lymphangiomyomatosis.
Researches and researchers
Doctors, researchs, and experts related to Lymphangioleiomyomatosis extracted from public data.
Lymphangioleiomyomatosis Experts map
Current Researchs and researchers
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Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project - Coordinator of expert centre network - Coordinator of research networkFRANKFURT AM MAIN — Pr Thomas O. WAGNER
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Institution/s:
— Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
— Zentrum der Inneren Medizin, Klinikum der Johann Wolfgang Goethe-Universität Frankfurt -
Research area/topic::
ENCE CF-LAM-LTX: European networks of centres of expertise for CF (Cystic Fibrosis), LAM (Lymphangioleiomyomatosis), and LTX (Lung Transplantation)
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Institution/s:
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Investigator of research projectPECS — Pr Judit E PONGRÁCZ
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Institution/s:
— Faculty of Medicine, University of Pécs -
Research area/topic::
Studying the role of Wnt signaling to develop novel therapeutic targets and diganostic markers in LAM
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Institution/s:
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Coordinator of expert centre - Principal investigator of clinical trial - Coordinator of research networkMILANO — Dr Sergio HARARI
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Institution/s:
— Ospedale San Giuseppe
— Ospedale San Giuseppe -
Research area/topic::
Il Polmone.it - Malattie Rare Polmonari
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Institution/s:
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Investigator of research projectBIRMINGHAM — Ms Mahitha GUMMADI
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Institution/s:
— Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
— St John's Institute of Dermatology, St Thomas' Hospital
— D Floor, South Block, Queen's Medical Centre
— Southampton General Hospital -
Research area/topic::
Use of cleaved collagen motifs, VEGF-D and clinical phenotype to predict disease progression in lymphangioleiomyomatosis (LAM)
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Institution/s:
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Investigator of research projectLONDON — Ms Mahitha GUMMADI
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Institution/s:
— Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
— St John's Institute of Dermatology, St Thomas' Hospital
— D Floor, South Block, Queen's Medical Centre
— Southampton General Hospital -
Research area/topic::
Use of cleaved collagen motifs, VEGF-D and clinical phenotype to predict disease progression in lymphangioleiomyomatosis (LAM)
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Institution/s:
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Investigator of research projectNOTTINGHAM — Ms Mahitha GUMMADI
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Institution/s:
— Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
— St John's Institute of Dermatology, St Thomas' Hospital
— D Floor, South Block, Queen's Medical Centre
— Southampton General Hospital -
Research area/topic::
Use of cleaved collagen motifs, VEGF-D and clinical phenotype to predict disease progression in lymphangioleiomyomatosis (LAM)
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Institution/s:
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Coordinator of expert centre - Clinical expert - Investigator of research projectNOTTINGHAM — Pr Simon JOHNSON
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Institution/s:
— D Floor, South Block, Queen's Medical Centre
— Queens Medical Centre, Queen's Medical Centre -
Research area/topic::
Use of cleaved collagen motifs, VEGF-D and clinical phenotype to predict disease progression in lymphangioleiomyomatosis (LAM)
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Institution/s:
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Investigator of research projectSOUTHAMPTON — Ms Mahitha GUMMADI
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Institution/s:
— Queen Elizabeth Medical Centre, Queen Elizabeth Hospital
— St John's Institute of Dermatology, St Thomas' Hospital
— D Floor, South Block, Queen's Medical Centre
— Southampton General Hospital -
Research area/topic::
Use of cleaved collagen motifs, VEGF-D and clinical phenotype to predict disease progression in lymphangioleiomyomatosis (LAM)
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Institution/s:
Lymphangioleiomyomatosis Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)
View the complete list with 9 more genes
Specificity
7 %
Genes
40 % |
![]() By Athena Diagnostics Inc (United States).
TSC1
Specificity
100 %
Genes
20 % |
![]() By Athena Diagnostics Inc (United States).
TSC1, TSC2
Specificity
100 %
Genes
40 % |
![]() By Athena Diagnostics Inc (United States).
TSC1
Specificity
100 %
Genes
20 % |
![]() By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
Specificity
1 %
Genes
40 % |
![]() By Athena Diagnostics Inc (United States).
SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)
View the complete list with 11 more genes
Specificity
7 %
Genes
40 % |
![]() By Athena Diagnostics Inc (United States).
TSC1, TSC2
Specificity
100 %
Genes
40 % |
![]() By Athena Diagnostics Inc (United States).
TSC1
Specificity
100 %
Genes
20 % |
You can get up to 261 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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