Disease #05330 (TSC (tuberous sclerosis))

Official abbreviation TSC
Name tuberous sclerosis
OMIM ID -
Inheritance -
Individuals reported having this disease 8203
Phenotype entries for this disease 8197
Associated with 2 genes TSC1, TSC2
Associated tissues -
Disease features -
Remarks -


Individuals

8203 entries on 83 pages. Showing entries 1 - 100.
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00000019 - PubMed: Almomani 2011 - - - - - - - - - autism, BMD/DMD, TSC - AFF2, ALG12, ALG6, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1 AFF2, ALG12, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, MFN2, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1 44 1 Global Variome, with Curator vacancy
00004519 - unpublished - - - ? (unknown) - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00004520 - unpublished patient has TSC2 missense c.3095G>C, TSC2 intronic variant c.5161-26_5161-23del and other recurrent variants in TSC1 (c.1335A>G and c.1334-55C>G) and in TSC2 (c.976-63G>A, c.1578C>T, c.1600-14C>T, c.3884-56C>G, c.5202T>C, c.5161-10A>C and c.5397G>C); TSC2 c.3095G>C not seen in parents or sibling - - ? (unknown) - - - - - TSC - TSC1, TSC2 TSC2 2 4 Rosemary Ekong
00004521 - unpublished familial case; 4 affecteds - 1 has mild phenotype and 3 have several TSC symptoms - - Spain - - - - - TSC - TSC1, TSC2 TSC2 1 4 Rosemary Ekong
00004522 - unpublished - - - Spain - - - - - TSC renal dysplasia (HP:0000110) TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00004523 - unpublished sporadic case F ? Spain - - - - - TSC bilateral renal hamartomas (HP:0008696), intraventricular tumour (3 months of life) TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00004524 - unpublished sporadic case; TS affected patient; no other variant found in patient; both phenotypically unaffected parents reported to have same DNA change ? - Spain - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00004525 - unpublished clinical diagnosis of TS in patient; intellectual disability in some family members - - Spain - - - - - TSC facial angiofibromas (HP:0009720) TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00004526 - unpublished - - - - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00004527 - unpublished - - - - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00038387 - - - M no United States - - - - - TSC angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque;hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719) TSC1 TSC1 1 1 Sonal Desai
00038388 - - - M no United States - - - - - TSC cortical tubers, angiomyolipomas (≥2, HP:0006772);cardiac rhabdomyoma (HP:0009729);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);Shagreen patch (HP:0009721);subependymal giant cell astrocytoma (HP:0009718) TSC1, TSC2 TSC1 1 1 Sonal Desai
00038389 - - - M no - - - - - - TSC cortical tubers, hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);subependymal giant cell astrocytoma (HP:0009718);subependymal nodules (HP:0009716) TSC1, TSC2 TSC1 1 1 Sonal Desai
00038390 - - - F no - - - - - - TSC angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque;angiomyolipomas (≥2, HP:0006772);cardiac rhabdomyoma (HP:0009729);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);subependymal giant cell astrocytoma (HP:0009718);subependymal nodules (HP:0009716) TSC1, TSC2 TSC2 1 1 Sonal Desai
00038391 - - - M no ? (unknown) - - - - - TSC angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque;angiomyolipomas (≥2, HP:0006772);cardiac rhabdomyoma (HP:0009729);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);multiple renal cysts (HP:0000107);multiple retinal hamartomas (HP:0009594);nonrenal hamartomas;subependymal nodules (HP:0009716) TSC1, TSC2 TSC2 1 1 Sonal Desai
00038392 - - - M - United States - - - - - TSC dental enamel pits (>3, HP:0009722);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);subependymal giant cell astrocytoma (HP:0009718);subependymal nodules (HP:0009716);ungual fibromas (≥2, HP:0100804), cortical tubers and white matter radial migration lines TSC1, TSC2 TSC1 1 1 Sonal Desai
00038393 - - - F no United States - - - - - TSC cortical tubers, angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque;multiple renal cysts (HP:0000107);Shagreen patch (HP:0009721) TSC1, TSC2 TSC1 1 1 Sonal Desai
00079880 - - - - - Germany - - - - - TSC - TSC2 TSC2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00143221 - PubMed: Jones 1999 - ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143222 - PubMed: European TSC consortium 1993 affected parent screened ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 2 Rosemary Ekong
00143223 - PubMed: European TSC consortium 1993 parents thought to be unaffected; parental DNA unavailable for testing ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143224 - PubMed: European TSC consortium 1993 parents thought to be unaffected; parental DNA unavailable for testing ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143225 - PubMed: European TSC consortium 1993 - ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143226 - PubMed: Jones 1997 - ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 2 Rosemary Ekong
00143227 - PubMed: Jones 1997 - ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143228 - PubMed: Jones 1997 - ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143229 - PubMed: Jones 1997 another patient reported in this paper ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143230 - PubMed: European TSC consortium 1993 - ? ? Netherlands - - - - - TSC - TSC1, TSC2 TSC2 1 2 Rosemary Ekong
00143231 - PubMed: European TSC consortium 1993 - ? ? Poland - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143232 - unpublished - ? ? Portugal - - - - - TSC - TSC1, TSC2 TSC2 1 2 Rosemary Ekong
00143233 - unpublished - ? ? Poland - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143234 - PubMed: Langkau 2002 - ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143235 - PubMed: Wang 1998 father affected and variant positive ? ? Netherlands - - - - - TSC son has macrocephaly (HP:0000256), hypotonia; father has facial angiofibroma (HP:0009720), ungual fibroma (HP:0100804), renal angiomyolipoma (HP:0006772), renal cysts (HP:0000107), severe renal problems with hematuria (HP:0000790), hypomelanotic macules (HP:0009719), buccal fibroma (HP:0000169), multiple dental pits (HP:0009722), seizures (HP:0001250), normal intelligence TSC1, TSC2 TSC2 1 2 Rosemary Ekong
00143236 - PubMed: Rendtorff 2005 - ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143237 - PubMed: Rendtorff 2005 different patient reported in this paper ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143238 - unpublished - M ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143239 - unpublished - M ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143240 - unpublished - F ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143241 - unpublished - M ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143242 - unpublished TS affected F ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143243 - PubMed: Sancak 2005 diagnosed with definite TSC ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 2 Rosemary Ekong
00143244 - unpublished entry represents 2 different cases ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 2 Rosemary Ekong
00143245 - PubMed: Tyburczy 2014 childhood onset and adult diagnosis of TSC F ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143246 - unpublished patient referred for diagnostic TS testing M ? - - - - - - TSC bilateral SEN and multiple cardiac rhabdomyoma in patient, single dental pit (HP:0009722) and ambiguous pigmentory change in one parent; renal cysts TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143247 - unpublished index has suspected TS on CT scan and a large head M ? - - - - - - TSC macrocephaly (HP:0000256) TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143248 - unpublished index reported as possibly a somatic mosaic; one parent tested and the other parent not tested M ? - - - - - - TSC one parent has <3 hypomelanotic macules (HP:0009719) TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143249 - unpublished patient reported as possibly a somatic mosaic; no clinical features indicated; parents not tested M ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143250 - unpublished patient also has NF1 inherited from one parent M ? - - - - - - TSC neurofibromatosis (NF-1, HP:0001067) TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143251 - unpublished patient diagnosed with definite TS; both parents reported as phenotypically unaffected but not examined; parents not tested M ? - - - - - - TSC global developmental delay; TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143252 - unpublished - M ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143253 - unpublished both parents reported as unaffected but not tested M ? - - - - - - TSC speech delayed (HP:0000750), polycystic kidney disease (PKD-1, HP:0000113) TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143254 - unpublished TS affected F ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143255 - unpublished TS affected F ? - - - - - - TSC polycystic kidney disease (PKD-1, HP:0000113) TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143256 - unpublished TS affected; both parents reported as unaffected F ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143257 - unpublished TS affected; the one parent tested is reported as unaffected F ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143258 - PubMed: Kwiatkowski 2015 TSC affected patient with SEGA ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143259 - PubMed: Kwiatkowski 2015 patient has TSC with AML ? ? - - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143260 - PubMed: Lee 2014 - ? ? Korea - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00143261 - PubMed: Lee 2014 - ? ? Korea - - - - - TSC - TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00164338 - - - - - - - - - - - TSC - TSC2 TSC2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00165194 - - TSC suspected - - - - - - - - TSC - TSC1, TSC2 TSC1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00180298 - PubMed: Regazzo 2018 62yr old TSC patient with subsequent silent gonadotroph pituitary neuroendocrine tumour; no Fx TSC and no other TSC features (no renal, cardiac, skin, or lung features) TSC diagnosis only made after recognising symptoms in son; single PitNET seen on MRI; no recurrent pituitary adenoma (May 2018) F ? ? (unknown) white - - - PitNET resection TSC , 32yr old son has Cognitive impairment (HP:01005430) and neurobehavioural abnormalities from childhood TSC1, TSC2 TSC2 1 1 Rosemary Ekong
00208790 - - - F - Germany - - - - - TSC HP:0000951 (Abnormality of the skin); HP:0001028 (Hemangioma); HP:0010786 (Urinary tract neoplasm); HP:0001250 (Seizures); HP:0005584 (Renal cell carcinoma); HP:0012638 (Abnormality of nervous system physiology); HP:0007620 (Cutaneous leiomyoma) - CHEK2, TSC1 2 1 Andreas Laner
00218930 - - - - - - - - - - - TSC - TSC2 TSC2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00222966 - unpublished 7bp deletion of CGTCTCC described as 818_824del7bp ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222967 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222968 - unpublished patient also has TSC2 missense c.1747G>A ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222969 - unpublished 6th case ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222970 - unpublished 3rd case reported; patient has TSC1 c.965T>C F - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222971 - unpublished 7th case ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222972 - unpublished - M - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222973 - unpublished patient has TSC2 c.4990-6G>A ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222974 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222975 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222976 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222977 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222978 - unpublished 4th case ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222979 - unpublished 3rd case ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222980 - unpublished 3rd case ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222981 - unpublished patient has known TSC1 missense c.965T>C and TSC1 silent variant c.1335A>G ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222982 - unpublished patient has TSC2 frameshift c.731_732del ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222983 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222984 - unpublished patient also has TSC2 nonsense c.1874C>G ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222985 - unpublished different case to that in Jones, 1997 F - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222986 - unpublished all cases different from those in Jones, 1997 ? - - - - - - - TSC - TSC1 TSC1 1 70 Rosemary Ekong
00222987 - unpublished variant seen in unaffected parent of an affected child ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222988 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222989 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222990 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222991 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222992 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222993 - PubMed: Mozaffari, 2009; PubMed: Hoogeveen-Westerveld, 2011 no other variant found ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222994 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222995 - unpublished - M - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222996 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222997 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222998 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00222999 - unpublished 3rd patient ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00223000 - unpublished 4th patient ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
00223001 - unpublished - ? - - - - - - - TSC - TSC1 TSC1 1 1 Rosemary Ekong
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