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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Mental Retardation, X-Linked (D038901)
Parent Node: Purine-Pyrimidine Metabolism, Inborn Errors (D011686)
..Starting node ..Lesch-Nyhan Syndrome (D007926)
Child Nodes:
........Lesch-Nyhan Syndrome, Neurologic Variant (C564535)
Sister Nodes:
..Adenosine monophosphate deaminase deficiency (C538234)
..Adenylosuccinate lyase deficiency (C538235)
..Beta-Ureidopropionase Deficiency (C563210)
..Dihydropyrimidine Dehydrogenase Deficiency (D054067) 1
..Gout (D006073) 6
..Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase (C565489)
..Lesch-Nyhan Syndrome (D007926) 1
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Orotic Aciduria II (C562589)
..Oroticaciduria 1 (C537136)
..Phosphoribosylpyrophosphate synthetase deficiency (C537897)
..Phosphoribosylpyrophosphate Synthetase Superactivity (C567064)
..Pseudouridinuria and Mental Defect (C564864)
..Purine Nucleoside Phosphorylase Deficiency (C562587)
..Thiopurine S methyltranferase deficiency (C536512)
..Xanthinuria, Type II (C566358)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6322

Name:

Lesch-Nyhan Syndrome

Definition:

An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)

Alternative IDs:

OMIM:300322

ParentIDs:

MESH:D011686|MESH:D020271|MESH:D020739|MESH:D038901

TreeNumbers:

C10.228.140.163.100.425 |C10.574.500.536 |C10.597.606.643.455.625 |C16.320.322.500.625 |C16.320.400.500 |C16.320.400.525.625 |C16.320.565.189.425 |C16.320.565.798.594 |C18.452.132.100.425 |C18.452.648.189.425 |C18.452.648.798.594

Synonyms:

Choreoathetosis Self Mutilation Hyperuricemia Syndrome |Choreoathetosis Self-Mutilation Hyperuricemia Syndrome |Choreoathetosis Self Mutilation Syndrome |Choreoathetosis Self-Mutilation Syndrome |Choreoathetosis Self-Mutilation Syndromes |Complete HGPRT Defic

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D007926
MeSH: D007926
OMIM: 300322;

Genes: HPRT1;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0002071	Abnormality of extrapyramidal motor function
3	HP:0001266	Choreoathetosis
4	HP:0001260	Dysarthria
5	HP:0002015	Dysphagia
6	HP:0001332	Dystonia
7	HP:0001290	Generalized hypotonia
8	HP:0001347	Hyperreflexia
9	HP:0003149	Hyperuricosuria
10	HP:0001252	Hypotonia
11	HP:0001249	Intellectual disability
12	HP:0001889	Megaloblastic anemia
13	HP:0001270	Motor delay
14	HP:0000787	Nephrolithiasis
15	HP:0002179	Opisthotonus
16	HP:0001854	Podagra
17	HP:0004322	Short stature
18	HP:0001257	Spasticity
19	HP:0000029	Testicular atrophy
20	HP:0002013	Vomiting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro)	3251	HPRT1	Pathogenic;other	137852480	RCV000010722; RCV000010723;	N	; MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133607483	133607483	NM_000194.2:c.122T>C	NP_000185.1:p.Leu41Pro	NC_000023.10:g.133607483T>C	OMIM Allelic Variant:308000.0006	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.134G>A (p.Arg45Lys)	3251	HPRT1	Pathogenic	137852491	RCV000010748;	N	MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133607495	133607495	NM_000194.2:c.134G>A	NP_000185.1:p.Arg45Lys	NC_000023.10:g.133607495G>A	OMIM Allelic Variant:308000.0020	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter)	3251	HPRT1	Pathogenic;other	137852494	RCV000010761; RCV000010762; RCV000153366;	N	; MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007; MedGen:CN221809	X	133609227	133609227	NM_000194.2:c.151C>T	NP_000185.1:p.Arg51Ter	NC_000023.10:g.133609227C>G,NC_000023.10:g.133609227C>T	HGMD:CM900133,OMIM Allelic Variant:308000.0035	C0023374 300322 Lesch-Nyhan syndrome; CN221809 not provided
NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu)	3251	HPRT1	Pathogenic;other	137852487	RCV000010742; RCV000010743;	N	; MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133609285	133609285	NM_000194.2:c.209G>A	NP_000185.1:p.Gly70Glu	NC_000023.10:g.133609285G>A	OMIM Allelic Variant:308000.0016	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg)	3251	HPRT1	Pathogenic;Uncertain significance;other	137852488	RCV000010744; RCV000010745; RCV000177012;	N	; MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007; MedGen:CN221809	X	133609287	133609287	NM_000194.2:c.211G>C	NP_000185.1:p.Gly71Arg	NC_000023.10:g.133609287G>C	OMIM Allelic Variant:308000.0017	C0023374 300322 Lesch-Nyhan syndrome; CN221809 not provided
NM_000194.2(HPRT1):c.212dupG (p.Tyr72Leufs)	3251	HPRT1	Pathogenic	786200980	RCV000153367;	N	MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133609288	133609288	NM_000194.2:c.212dupG	NP_000185.1:p.Tyr72Leufs	NC_000023.10:g.133609288dupG	HGMD:CI890171	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu)	3251	HPRT1	Pathogenic;other	137852481	RCV000010726; RCV000010727;	N	; MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133609298	133609298	NM_000194.2:c.222C>A	NP_000185.1:p.Phe74Leu	NC_000023.10:g.133609298C>A	OMIM Allelic Variant:308000.0008	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.325C>T (p.Gln109Ter)	3251	HPRT1	Pathogenic	137852489	RCV000010746;	N	MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133620501	133620501	NM_000194.2:c.325C>T	NP_000185.1:p.Gln109Ter	NC_000023.10:g.133620501C>T	OMIM Allelic Variant:308000.0018	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.389T>A (p.Val130Asp)	3251	HPRT1	Pathogenic;other	137852483	RCV000010734; RCV000010735;	N	; MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133624222	133624222	NM_000194.2:c.389T>A	NP_000185.1:p.Val130Asp	NC_000023.10:g.133624222T>A	OMIM Allelic Variant:308000.0012	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp)	3251	HPRT1	Pathogenic;other	137852503	RCV000010789; RCV000010790;	N	; MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133627554	133627554	NM_000194.2:c.419G>A	NP_000185.1:p.Gly140Asp	NC_000023.10:g.133627554G>A	OMIM Allelic Variant:308000.0055	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.428T>A (p.Met143Lys)	3251	HPRT1	Pathogenic	137852496	RCV000010765;	N	MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133627563	133627563	NM_000194.2:c.428T>A	NP_000185.1:p.Met143Lys	NC_000023.10:g.133627563T>A	OMIM Allelic Variant:308000.0037	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter)	3251	HPRT1	Pathogenic;other	137852505	RCV000010793; RCV000010794;	N	; MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133627594	133627594	NM_000194.2:c.459T>G	NP_000185.1:p.Tyr153Ter	NC_000023.10:g.133627594T>G	OMIM Allelic Variant:308000.0057	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.508C>T (p.Arg170Ter)	3251	HPRT1	Pathogenic	137852497	RCV000010766;	N	MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133632442	133632442	NM_000194.2:c.508C>T	NP_000185.1:p.Arg170Ter	NC_000023.10:g.133632442C>T	OMIM Allelic Variant:308000.0038	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.527C>T (p.Pro176Leu)	3251	HPRT1	Pathogenic	137852493	RCV000010758;	N	MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133632461	133632461	NM_000194.2:c.527C>T	NP_000185.1:p.Pro176Leu	NC_000023.10:g.133632461C>T	OMIM Allelic Variant:308000.0033	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.529G>T (p.Asp177Tyr)	3251	HPRT1	Pathogenic	137852492	RCV000010749;	N	MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133632463	133632463	NM_000194.2:c.529G>T	NP_000185.1:p.Asp177Tyr	NC_000023.10:g.133632463G>T	OMIM Allelic Variant:308000.0021	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn)	3251	HPRT1	Pathogenic;other	267606863	RCV000010728; RCV000010729;	N	; MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133632685	133632685	NM_000194.2:c.580G>A	NP_000185.1:p.Asp194Asn	NC_000023.10:g.133632685G>A	OMIM Allelic Variant:308000.0009	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.595T>G (p.Phe199Val)	3251	HPRT1	Pathogenic;other	137852486	RCV000010740; RCV000010741;	N	; MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133632700	133632700	NM_000194.2:c.595T>G	NP_000185.1:p.Phe199Val	NC_000023.10:g.133632700T>G	OMIM Allelic Variant:308000.0015	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.610-4_610-2delATAinsTTT	3251	HPRT1	Pathogenic	672601245	RCV000010755;	N	MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133634056	133634058	NM_000194.2:c.610-4_610-2delATAinsTTT		NC_000023.10:g.133634056_133634058delATAinsTTT	OMIM Allelic Variant:308000.0030	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.610C>G (p.His204Asp)	3251	HPRT1	Pathogenic	137852490	RCV000010747;	N	MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133634060	133634060	NM_000194.2:c.610C>G	NP_000185.1:p.His204Asp	NC_000023.10:g.133634060C>G	OMIM Allelic Variant:308000.0019	C0023374 300322 Lesch-Nyhan syndrome
NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs)	3251	HPRT1	Pathogenic;other	387906428	RCV000010724; RCV000010725;	N	; MedGen:C0023374,OMIM:300322,ORPHA:510,SNOMED CT:10406007	X	133634093	133634113	NM_000194.2:c.643_*6del21	NP_000185.1:p.Lys215fs	NC_000023.10:g.133634093_133634113del21	OMIM Allelic Variant:308000.0007	C0023374 300322 Lesch-Nyhan syndrome