Li-Fraumeni Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LFS1 MCID: LFR009 MIFTS: 16	Li-Fraumeni Syndrome 1 (LFS1) Categories: Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Expand all tables

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Aliases & Classifications for Li-Fraumeni Syndrome 1

MalaCards integrated aliases for Li-Fraumeni Syndrome 1:

Name: Li-Fraumeni Syndrome 1 ¹² ²⁹ ⁶

Li-Fraumeni Syndrome, Type 1 ³⁹

Lfs1 ¹²

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases Endocrine diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111503

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Summaries for Li-Fraumeni Syndrome 1

Disease Ontology : ¹² A Li-Fraumeni syndrome that has material basis in heterozygous mutation in TP53 on chromosome 17p13.1.

MalaCards based summary : Li-Fraumeni Syndrome 1, also known as li-fraumeni syndrome, type 1, is related to li-fraumeni syndrome. An important gene associated with Li-Fraumeni Syndrome 1 is TP53 (Tumor Protein P53).

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Related Diseases for Li-Fraumeni Syndrome 1

Diseases in the Li-Fraumeni Syndrome family:

Li-Fraumeni Syndrome 2

Li-Fraumeni Syndrome 1

Diseases related to Li-Fraumeni Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	li-fraumeni syndrome	11.7

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Symptoms & Phenotypes for Li-Fraumeni Syndrome 1

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Drugs & Therapeutics for Li-Fraumeni Syndrome 1

Search Clinical Trials , NIH Clinical Center for Li-Fraumeni Syndrome 1

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Genetic Tests for Li-Fraumeni Syndrome 1

Genetic tests related to Li-Fraumeni Syndrome 1:

#	Genetic test	Affiliating Genes
1	Li-Fraumeni Syndrome 1 ²⁹

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Anatomical Context for Li-Fraumeni Syndrome 1

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Publications for Li-Fraumeni Syndrome 1

Articles related to Li-Fraumeni Syndrome 1:

#	Title	Authors	PMID	Year
1	The etiology of osteosarcoma. ⁶¹	Ottaviani G...Jaffe N	20213384	2009

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Genes for Li-Fraumeni Syndrome 1

Genes related to Li-Fraumeni Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TP53	Tumor Protein P53	Protein Coding	435.16	Pathogenic ⁶ Drug response ⁶ GeneCards inferred via : Variants (show sections)

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Variations for Li-Fraumeni Syndrome 1

ClinVar genetic disease variations for Li-Fraumeni Syndrome 1:

⁶ (show top 50) (show all 135) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TP53	NM_000546.5(TP53):c.733G>T (p.Gly245Cys)	SNV	Pathogenic	12349	rs28934575	17:7577548-7577548	17:7674230-7674230
2	TP53	NM_000546.5(TP53):c.755T>C (p.Leu252Pro)	SNV	Pathogenic	12350	rs121912653	17:7577526-7577526	17:7674208-7674208
3	TP53	NM_000546.5(TP53):c.532del (p.His178fs)	deletion	Pathogenic	12377	rs786202525	17:7578398-7578398	17:7675080-7675080
4	TP53	NM_000546.5(TP53):c.875A>T (p.Lys292Ile)	SNV	Pathogenic	12378	rs121912663	17:7577063-7577063	17:7673745-7673745
5	TP53	NM_000546.5(TP53):c.1010G>A (p.Arg337His)	SNV	Pathogenic	12379	rs121912664	17:7574017-7574017	17:7670699-7670699
6	TP53	TP53, 1-BP DEL, CODON 257	deletion	Pathogenic	12373
7	TP53	NM_000546.5(TP53):c.398T>C (p.Met133Thr)	SNV	Pathogenic	12357	rs28934873	17:7578532-7578532	17:7675214-7675214
8	TP53	NM_000546.5(TP53):c.733G>A (p.Gly245Ser)	SNV	Pathogenic	12365	rs28934575	17:7577548-7577548	17:7674230-7674230
9	TP53	NM_000546.5(TP53):c.659A>C (p.Tyr220Ser)	SNV	Pathogenic	12383	rs121912666	17:7578190-7578190	17:7674872-7674872
10	TP53	NM_000546.5(TP53):c.637C>T (p.Arg213Ter)	SNV	Pathogenic	43590	rs397516436	17:7578212-7578212	17:7674894-7674894
11	TP53	NM_000546.5(TP53):c.638G>A (p.Arg213Gln)	SNV	Pathogenic	135359	rs587778720	17:7578211-7578211	17:7674893-7674893
12	TP53	NM_000546.5(TP53):c.455C>T (p.Pro152Leu)	SNV	Pathogenic	142766	rs587782705	17:7578475-7578475	17:7675157-7675157
13	TP53	NM_000546.5(TP53):c.455dup (p.Pro153fs)	duplication	Pathogenic	182958	rs730882019	17:7578475-7578475	17:7675157-7675157
14	TP53	NM_000546.5(TP53):c.1015G>T (p.Glu339Ter)	SNV	Pathogenic	438708	rs17882252	17:7574012-7574012	17:7670694-7670694
15	TP53	NM_000546.5(TP53):c.919+1G>A	SNV	Pathogenic	633606	rs1131691039	17:7577018-7577018	17:7673700-7673700
16	TP53	TP53, 11-BP DEL/5-BP INS	indel	Pathogenic	12381
17	TP53	NM_000546.5(TP53):c.1031T>C (p.Leu344Pro)	SNV	Pathogenic	12375	rs121912662	17:7573996-7573996	17:7670678-7670678
18	TP53	NM_000546.5(TP53):c.524G>A (p.Arg175His)	SNV	Pathogenic	12374	rs28934578	17:7578406-7578406	17:7675088-7675088
19	TP53	NM_000546.5(TP53):c.628_629del (p.Asn210fs)	deletion	Pathogenic	12361	rs587776768	17:7578221-7578222	17:7674903-7674904
20	TP53	NM_000546.5(TP53):c.734G>A (p.Gly245Asp)	SNV	Pathogenic	12355	rs121912656	17:7577547-7577547	17:7674229-7674229
21	TP53	NM_000546.5(TP53):c.742C>T (p.Arg248Trp)	SNV	Pathogenic	12347	rs121912651	17:7577539-7577539	17:7674221-7674221
22	TP53	NM_000546.5(TP53):c.96+1G>T	SNV	Pathogenic/Likely pathogenic	482212	rs1131691003	17:7579699-7579699	17:7676381-7676381
23	TP53	NM_000546.5(TP53):c.499C>T (p.Gln167Ter)	SNV	Pathogenic/Likely pathogenic	528250	rs1555526097	17:7578431-7578431	17:7675113-7675113
24	TP53	NM_000546.5(TP53):c.542G>A (p.Arg181His)	SNV	Pathogenic/Likely pathogenic	142320	rs397514495	17:7578388-7578388	17:7675070-7675070
25	TP53	NM_000546.5(TP53):c.559+1G>A	SNV	Pathogenic/Likely pathogenic	428908	rs1131691042	17:7578370-7578370	17:7675052-7675052
26	TP53	NM_000546.5(TP53):c.794T>C (p.Leu265Pro)	SNV	Pathogenic/Likely pathogenic	245777	rs879253942	17:7577144-7577144	17:7673826-7673826
27	TP53	NM_000546.5(TP53):c.473G>A (p.Arg158His)	SNV	Pathogenic/Likely pathogenic	141963	rs587782144	17:7578457-7578457	17:7675139-7675139
28	TP53	NM_000546.5(TP53):c.535C>T (p.His179Tyr)	SNV	Pathogenic/Likely pathogenic	127815	rs587780070	17:7578395-7578395	17:7675077-7675077
29	TP53	NM_000546.5(TP53):c.817C>T (p.Arg273Cys)	SNV	Pathogenic/Likely pathogenic	43594	rs121913343	17:7577121-7577121	17:7673803-7673803
30	TP53	NM_000546.5(TP53):c.818G>A (p.Arg273His)	SNV	Pathogenic/Likely pathogenic	12366	rs28934576	17:7577120-7577120	17:7673802-7673802
31	TP53	NM_000546.5(TP53):c.844C>T (p.Arg282Trp)	SNV	Pathogenic/Likely pathogenic	12364	rs28934574	17:7577094-7577094	17:7673776-7673776
32	TP53	NM_000546.5(TP53):c.772G>A (p.Glu258Lys)	SNV	Pathogenic/Likely pathogenic	12348	rs121912652	17:7577509-7577509	17:7674191-7674191
33	TP53	NM_000546.5(TP53):c.743G>A (p.Arg248Gln)	SNV	Pathogenic/Likely pathogenic	12356	rs11540652	17:7577538-7577538	17:7674220-7674220
34	TP53	NM_000546.5(TP53):c.215C>G (p.Pro72Arg)	SNV	drug response	12351	rs1042522	17:7579472-7579472	17:7676154-7676154
35	TP53	NM_000546.5(TP53):c.814G>T (p.Val272Leu)	SNV	Likely pathogenic	12358	rs121912657	17:7577124-7577124	17:7673806-7673806
36	TP53	NM_000546.5(TP53):c.799C>T (p.Arg267Trp)	SNV	Likely pathogenic	141764	rs55832599	17:7577139-7577139	17:7673821-7673821
37	TP53	NM_000546.5(TP53):c.38dup (p.Leu14fs)	duplication	Likely pathogenic	487431	rs1555527002	17:7579875-7579875	17:7676557-7676557
38	TP53	NM_000546.5(TP53):c.267del (p.Ser90fs)	deletion	Likely pathogenic	156515	rs587783062	17:7579420-7579420	17:7676102-7676102
39	TP53	NM_000546.5(TP53):c.412G>C (p.Ala138Pro)	SNV	Likely pathogenic	12376	rs28934875	17:7578518-7578518	17:7675200-7675200
40	TP53	NM_000546.5(TP53):c.869G>A (p.Arg290His)	SNV	Conflicting interpretations of pathogenicity	127825	rs55819519	17:7577069-7577069	17:7673751-7673751
41	TP53	NM_000546.5(TP53):c.847C>T (p.Arg283Cys)	SNV	Conflicting interpretations of pathogenicity	127824	rs149633775	17:7577091-7577091	17:7673773-7673773
42	TP53	NM_000546.5(TP53):c.91G>A (p.Val31Ile)	SNV	Conflicting interpretations of pathogenicity	127827	rs201753350	17:7579705-7579705	17:7676387-7676387
43	TP53	NM_001126113.2(TP53):c.1009C>T (p.Arg337Ter)	SNV	Conflicting interpretations of pathogenicity	492643	rs554738122	17:7576569-7576569	17:7673251-7673251
44	TP53	NM_000546.5(TP53):c.30C>T (p.Val10=)	SNV	Conflicting interpretations of pathogenicity	183952	rs568171603	17:7579883-7579883	17:7676565-7676565
45	TP53	NM_000546.5(TP53):c.31G>A (p.Glu11Lys)	SNV	Conflicting interpretations of pathogenicity	418693	rs201382018	17:7579882-7579882	17:7676564-7676564
46	TP53	NM_000546.5(TP53):c.655C>T (p.Pro219Ser)	SNV	Conflicting interpretations of pathogenicity	245673	rs879253894	17:7578194-7578194	17:7674876-7674876
47	TP53	NM_000546.5(TP53):c.673-37C>T	SNV	Conflicting interpretations of pathogenicity	371964	rs374907737	17:7577645-7577645	17:7674327-7674327
48	TP53	NM_000546.5(TP53):c.374C>T (p.Thr125Met)	SNV	Conflicting interpretations of pathogenicity	183748	rs786201057	17:7579313-7579313	17:7675995-7675995
49	TP53	NM_000546.5(TP53):c.845G>A (p.Arg282Gln)	SNV	Conflicting interpretations of pathogenicity	237956	rs730882008	17:7577093-7577093	17:7673775-7673775
50	TP53	NM_000546.5(TP53):c.787A>G (p.Asn263Asp)	SNV	Conflicting interpretations of pathogenicity	142916	rs72661119	17:7577151-7577151	17:7673833-7673833

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Expression for Li-Fraumeni Syndrome 1

Search GEO for disease gene expression data for Li-Fraumeni Syndrome 1.

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Pathways for Li-Fraumeni Syndrome 1

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GO Terms for Li-Fraumeni Syndrome 1

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Sources for Li-Fraumeni Syndrome 1

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Li-Fraumeni Syndrome 1 (LFS1)

Aliases & Classifications for Li-Fraumeni Syndrome 1

MalaCards integrated aliases for Li-Fraumeni Syndrome 1:

Classifications:

External Ids:

Summaries for Li-Fraumeni Syndrome 1

Related Diseases for Li-Fraumeni Syndrome 1

Diseases in the Li-Fraumeni Syndrome family:

Diseases related to Li-Fraumeni Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Li-Fraumeni Syndrome 1

Drugs & Therapeutics for Li-Fraumeni Syndrome 1

Genetic Tests for Li-Fraumeni Syndrome 1

Genetic tests related to Li-Fraumeni Syndrome 1:

Anatomical Context for Li-Fraumeni Syndrome 1

Publications for Li-Fraumeni Syndrome 1

Articles related to Li-Fraumeni Syndrome 1:

Genes for Li-Fraumeni Syndrome 1

Genes related to Li-Fraumeni Syndrome 1 (1 elite genes):

Variations for Li-Fraumeni Syndrome 1

ClinVar genetic disease variations for Li-Fraumeni Syndrome 1:

Expression for Li-Fraumeni Syndrome 1

Pathways for Li-Fraumeni Syndrome 1

GO Terms for Li-Fraumeni Syndrome 1

Sources for Li-Fraumeni Syndrome 1