Lymphangioleiomyomatosis

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Lymphangioleiomyomatosis

TSC1
TSC2
JAG2
HES1
VEGFD

View recommended genes panels

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.

Click here to know more about Mendelian.

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

FRANKFURT AM MAIN — Pr Thomas O. WAGNER
Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project - Coordinator of expert centre network - Coordinator of research network
- 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)

PECS — Pr Judit E PONGRÁCZ
Investigator of research project
- 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

MILANO — Dr Sergio HARARI
Coordinator of expert centre - Principal investigator of clinical trial - Coordinator of research network
- Institution/s:
  — Ospedale San Giuseppe
  — Ospedale San Giuseppe
- Research area/topic::
  Il Polmone.it - Malattie Rare Polmonari

BIRMINGHAM — Ms Mahitha GUMMADI
Investigator of research project
- 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)

LONDON — Ms Mahitha GUMMADI
Investigator of research project
- 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)

NOTTINGHAM — Ms Mahitha GUMMADI
Investigator of research project
- 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)

NOTTINGHAM — Pr Simon JOHNSON
Coordinator of expert centre - Clinical expert - Investigator of research project
- 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)

SOUTHAMPTON — Ms Mahitha GUMMADI
Investigator of research project
- 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)

Lymphangioleiomyomatosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PreSeek Non-invasive Prenatal Gene Sequencing Screen. 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 Panel complete gene list RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS, JAG1, KRAS, MAP2K1, MAP2K2, MECP2, NRAS, PTPN11, RAD21, RAF1 Specificity 7 % Genes 40 %
TSC1 Deletion Analysis. By Athena Diagnostics Inc (United States). TSC1 Specificity 100 % Genes 20 %
TSC Familial Mutation Evaluation. By Athena Diagnostics Inc (United States). TSC1, TSC2 Specificity 100 % Genes 40 %
TSC1 Sequencing Test. By Athena Diagnostics Inc (United States). TSC1 Specificity 100 % Genes 20 %
Epilepsy Advanced Sequencing and CNV Evaluation. 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 Panel complete gene list SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SUCLA2, SYN1, SYNGAP1, SYNJ1, SYP, TBX1, TCF4, TREX1, TSC1, TSC2, TUBA8, UBE3A, WWOX, SLC4A10, CNTNAP2, CACNA1A, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, PCDH19, SLC25A19, ARHGEF9, DEAF1, ZEB2, CASK, CASR, SETBP1, ALG9, ARFGEF2, PANK2, PLCB1, SAMHD1, DNAJC5, SLC19A3, EFHC1, LIAS, RAB39B, SCARB2, HCN4, BCKDK, PRICKLE1, RAB3GAP1, CPA6, CENPJ, ADGRV1, NDE1, FKRP, ARX, SPATA5, PHF6, RBFOX1, ATP6AP2, PRIMA1, SETD2, DEPDC5, ATP6V0A2, RNASEH2A, STX1B, KCNT1, MAGI2, ASPM, VPS13A, POMGNT1, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNA7, CHRNB2, POMT2, SLC25A22, PRICKLE2, MBD5, L2HGDH, TPP1, CLN3, CLN5, TUBA1A, CLN6, CLN8, ANKRD11, NHLRC1, BRAT1, VPS13B, KCTD7, COL4A1, ABAT, SLC13A5, PIGO, CPT2, KIF1BP, CRH, RNASEH2C, WDR62, KANSL1, SMC3, CSTB, CTSD, CTSF, CUL4B, OFD1, RNASEH2B, PIGV, CYP27A1, DCX, TSEN54, MFSD8, NIPBL, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, NEXMIF, ROGDI, TBL1XR1, DYNC1H1, DNM1, DPYD, ATP13A2, PNPO, PRRT2, SRPX2, TUBB2B, ALG13, DYRK1A, EEF1A2, EMX2, EPM2A, FKTN, FGD1, FGFR3, FLNA, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GATM, GFAP, GLDC, ALPL, GNAO1, GOSR2, GPC3, ADGRG1, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, AMT, HSD17B10, HCN1, HNRNPU, HPRT1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH2, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, LAMA2, LARGE1, LBR, LGI1, LMNB2, MCPH1, MECP2, MEF2C, KMT2D, ASAH1, NDUFA1, NOTCH3, NR2F1, ATP1A2, NRXN1, ATP1A3, ATP2A2, OPHN1, PAFAH1B1, PAK3, PAX6, ALDH7A1, ATRX, PEX7, PHGDH, SERPINI1, PIGA, PIGN, PLA2G6, PLP1, PNKP, POLG, POMT1, PPT1, PQBP1, PURA, QARS, RAI1, RELN Specificity 1 % Genes 40 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders. 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 Panel complete gene list SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1, KCNA1, KCNJ10, LBR, LGI1, KMT2D, ATP2A2, SERPINI1, PIGA, PIGN, PLA2G6, RAI1 Specificity 7 % Genes 40 %
Complete Tuberous Sclerosis Sequencing and CNV Evaluation. By Athena Diagnostics Inc (United States). TSC1, TSC2 Specificity 100 % Genes 40 %
TSC1 CNV Test. By Athena Diagnostics Inc (United States). TSC1 Specificity 100 % Genes 20 %

You can get up to 261 more panels with our dedicated tool

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS; PLACK GALACTOSIALIDOSIS; GSL CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED 45,X/46,XY MIXED GONADAL DYSGENESIS CANDIDIASIS, FAMILIAL, 9; CANDF9