Disease #00317 (LAM (lymphangioleiomyomatosis (LAM)), OMIM:606690)

Official abbreviation LAM
Name lymphangioleiomyomatosis (LAM)
OMIM ID 606690
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 27
Phenotype entries for this disease 27
Associated with 2 genes TSC1, TSC2
Associated tissues -
Disease features -
Remarks -


Individuals

27 entries on 1 page. Showing entries 1 - 27.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00223490 - PubMed: Sato, 2002 patient with sporadic LAM and no clinical features of TSC; normal brain CT and normal ophthalmologic examination F - - - - - - - LAM - TSC1 TSC1 1 1 Rosemary Ekong
00276471 P1 PubMed: Giannikou, 2016 patient has sporadic LAM but not TSC; DNA from abdominal LAM and chylous fluid cells tested; normal sample also tested ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00276872 494 PubMed: Astrinidis, 2000 patient has silent variant TSC2 c.1281C>A and TSC2c.1578C>T ? - - - - - - - LAM - TSC2 TSC2 2 1 Rosemary Ekong
00276986 539 PubMed: Astrinidis, 2000 variant found in LAM patient ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00277116 LIY26 PubMed: Sato, 2002 patient with sporadic LAM ? - Japan - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00277117 LMJ7 PubMed: Sato, 2002 patient with sporadic LAM; two TSC2 frameshift variants (c.4249del and c.4090dup) found in lymph nodes but not in blood lymphocytes ? - Japan - - - - - LAM - TSC2 TSC2 2 1 Rosemary Ekong
00277701 491 PubMed: Carsillo, 2000 somatic mosaic; TSC2 variant found in angiomyolipoma and pulmonary LAM, but not in lymphoblastoid cells of LAM patient ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00277702 651 PubMed: Carsillo, 2000 LAM patient; somatic mosaic; TSC2 variant found in angiomyolipoma of pulmonary LAM patient, not in lymphoblastoid cells of patient ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00277703 621 PubMed: Carsillo, 2000 another LAM patient; somatic mosaic; TSC2 variant found in angiomyolipoma of pulmonary LAM patient, not in lymphoblastoid cells of patient ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00277704 487 PubMed: Carsillo, 2000 LAM patient; somatic mosaic; TSC2 variant found in angiomyolipoma of pulmonary LAM patient; variant not in lymphoblastoid cells of patient ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00277705 490 PubMed: Carsillo, 2000 LAM patient; somatic mosaic; 13bp deletion of CCTGCTCTTCCGC; reported as c.2061_2073del13; TSC2 variant found in angiomyolipoma of pulmonary LAM patient, not in lymphoblastoid cells of patient ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00278494 - PubMed: Hoogeveen-Westerveld, 2013 patient has LAM; not indicated if patient also has TSC; no family information available ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00279015 9020 PubMed: Badri, 2013 - ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00279016 9022 PubMed: Badri, 2013 patient has sporadic LAM ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00279018 9059 PubMed: Badri, 2013 patient has sporadic LAM ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00279020 9038 PubMed: Badri, 2013 patient has sporadic LAM ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00279022 9036 PubMed: Badri, 2013 patient has sporadic LAM ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00279026 9034 PubMed: Badri, 2013 patient has sporadic LAM ? - - - - - - - LAM - TSC2 TSC2 2 1 Rosemary Ekong
00279027 9043 PubMed: Badri, 2013 patient has sporadic LAM ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00279030 - PubMed: Badri, 2013 patient has sporadic LAM ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00279035 9016 PubMed: Badri, 2013 patient has sporadic LAM ? - - - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00279501 - PubMed: Karbowniczek, 2003 44 yr old patient with pulmonary LAM and without TSC F - United States - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00281345 - unpublished 30 yr old LAM patient with TSC2 missense c.5297C>A, TSC2 c.2743-12T>A and TSC2 c.3815-15G>A; index has no features of TSC; 3 siblings reported to have LAM; siblings not tested; Parents samples not available for testing F - - - - - - - LAM lymphangioleiomyomatosis TSC2 TSC2 3 1 Rosemary Ekong
00281559 LAM1 PubMed: Murphy, 2017 patient with sporadic lymphangioleiomyomatosis and no TSC; has TSC2 c.4569G>T and TSC2 c.5084dup in LAM cells; absence of clinical TSC concluded by absence of variants in control smooth muscle tissue of patient ? - (United States) - - - - - LAM - TSC2 TSC2 2 1 Rosemary Ekong
00281560 LAM2 PubMed: Murphy, 2017 patient with sporadic lymphangioleiomyomatosis and no TSC; has TSC2 c.3094C>T and TSC2 c.3610G>A in LAM cells; absence of clinical TSC concluded by absence of variants in control smooth muscle tissue of patient ? - (United States) - - - - - LAM - TSC2 TSC2 2 1 Rosemary Ekong
00281589 LAM5 PubMed: Murphy, 2017 patient with sporadic lymphangioleiomyomatosis and no TSC; has TSC2 c.1835del and variant in TET2 gene in LAM cells; absence of clinical TSC concluded by absence of variants in control smooth muscle tissue of patient ? - (United States) - - - - - LAM - TSC2 TSC2 1 1 Rosemary Ekong
00305879 LAM5 PubMed: Guo,, 2020 patient with sporadic LAM F - (United States) - - - - Sirolimus LAM lymphangiomyomatosis (HP:0012798) TSC2 TSC2 2 1 Rosemary Ekong
Legend   How to query