Disease #00018 (LNS (Lesch-Nyhan Syndrome), OMIM:300322)

Official abbreviation	LNS
Name	Lesch-Nyhan Syndrome
OMIM ID	300322
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	173
Phenotype entries for this disease	-
Associated with 1 gene	HPRT1
Associated tissues	-
Disease features	-
Remarks	-

Individuals

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Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Remarks: Remarks about the individual.

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
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<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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173 entries on 2 pages. Showing entries 1 - 100.

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Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00002043	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002044	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002045	Sege-Peterson K1, Chambers J, Page T, Jones OW, Nyhan WL.(1992)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002046	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002047	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002048	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002049	Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002050	Burgemeister R1, Gutensohn W, Van den Berghe G, Jaeken J.(1994)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002051	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002052	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002053	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002054	Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002055	Tarlé SA1, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD.(1991)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002056	Igarashi T, Minami M, Nishida Y.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002057	Sege-Peterson K1, Chambers J, Page T, Jones OW, Nyhan WL.(1992)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002058	Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002059	Tarlé SA1, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD.(1991)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002060	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002061	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002062	Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002063	Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002064	Bouwens-Rombouts AG1, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.(1993)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002065	Sculley DG1, Dawson PA, Beacham IR, Emmerson BT, Gordon RB.(1991)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002066	Sculley DG1, Dawson PA, Beacham IR, Emmerson BT, Gordon RB.(1991)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002067	Tohyama J1, Nanba E, Ohno K.(1994)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002068	Davidson BL1, Tarlé SA, Palella TD, Kelley WN.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002069	Davidson BL1, Tarlé SA, Palella TD, Kelley WN.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002070	Yamada Y1, Goto H, Suzumori K, Adachi R, Ogasawara N.(1992)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002071	Yamada Y1, Goto H, Suzumori K, Adachi R, Ogasawara N.(1992)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002072	Gathof BS1, Rocchigiani M, Micheli V, Gaigl Z, Gresser U.(1998)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002073	Tvrdik T1, Marcus S, Hou SM, F?lt S, Noori P, Podlutskaja N, Hanefeld F, Str?mme P, Lambert B.(1998)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002074	[Marcus S1, Christensen E, Malm G.(1993)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002075	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002076	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002077	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002078	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002079	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002080	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002081	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002082	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002083	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002084	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002085	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002086	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002087	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002088	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002089	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002090	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002091	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002092	Sege-Peterson K1, Chambers J, Page T, Jones OW, Nyhan WL.(1992)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002093	Tarlé SA1, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD.(1991)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002094	Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002095	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002096	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002097	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002098	Davidson BL1, Tarlé SA, Van Antwerp M, Gibbs DA, Watts RW, Kelley WN, Palella TD.(1991)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002099	Davidson BL1, Tarlé SA, Van Antwerp M, Gibbs DA, Watts RW, Kelley WN, Palella TD.(1991)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002100	Fujimori S1, Tagaya T, Kamatani N, Akaoka I.(1992)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002101	Fujimori S1, Davidson BL, Kelley WN, Palella TD.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002102	Sege-Peterson K1, Chambers J, Page T, Jones OW, Nyhan WL.(1992)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002103	Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002104	Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002105	Davidson BL1, Chin SJ, Wilson JM, Kelley WN, Palella TD.(1988)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002106	Wilson JM, Kelley WN.(1983)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002107	Davidson BL1, Chin SJ, Wilson JM, Kelley WN, Palella TD.(1988)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002108	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002109	Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002110	Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002111	Wilson JM, Stout JT, Palella TD, Davidson BL, Kelley WN, Caskey CT.(1986)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002112	Bouwens-Rombouts AG1, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.(1993)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002113	Bouwens-Rombouts AG1, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.(1993)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002114	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002115	Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002116	Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002117	Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002118	Fujimori S1, Kamatani N, Nishida Y, Ogasawara N, Akaoka I.(1990)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002119	Fujimori S1, Kamatani N, Nishida Y, Ogasawara N, Akaoka I.(1990)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002120	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002121	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002122	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002123	van Bogaert P1, Ceballos I, Desguerre I, Telvi L, Kamoun P, Ponsot G.(1992)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002124	Yamada Y1, Goto H, Shiomi M, Yamamoto T, Higashino K, Ogasawara N.(1996)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002125	Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002126	Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002127	Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002128	Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002129	Tohyama J1, Nanba E, Ohno K.(1994)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002130	O'Neill P1, Trombley L, Gundel M, Hunter T, Nicklas JA, Ferreira ML, Bugallo MJ, Farias AC, Lohr A, Diamantopoulos M, Raskin S.(1999)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002131	Zoref-Shani E1, Bromberg Y, Hirsch J, Feinstein S, Frishberg Y, Sperling O.(2003)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002132	Laróvere LE1, Romero N, Fairbanks LD, Conde C, Guelbert N, Rosa AL, de Kremer RD.(2004)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002133	Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002134	Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002135	Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002136	Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002137	Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002138	Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002139	Gregoric A1, Rabelink GM, Kokalj Vokac N, Varda NM, Zagradisnik B.(2005)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002140	Cossu A1, Orrù S, Jacomelli G, Carcassi C, Contu L, Sestini S, Corradi MR, Pompucci G, Carcassi A, Micheli V.(2006)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002141	Zamora A1, Escárcega RO, Vazquez R, Zamora A, O'Neill JP.(2007)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang
00002142	Yamada Y1, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S.(2008)	-	-	LNS	-	HPRT1	HPRT1	1	1	Y Yang

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