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

LFS1 MCID: LFR009 MIFTS: 26	Li-Fraumeni Syndrome 1 (LFS1) Categories: Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways 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 ¹⁵

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 and dyskeratosis congenita, autosomal recessive 3. An important gene associated with Li-Fraumeni Syndrome 1 is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Human T-cell leukemia virus 1 infection and Cellular senescence (KEGG).

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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	32.5	WRAP53 TP53 CHEK2
2	dyskeratosis congenita, autosomal recessive 3	10.2	WRAP53 TP53
3	cervical adenoma malignum	10.1	TP53 CHEK2
4	dyskeratosis congenita autosomal recessive	10.1	WRAP53 TP53
5	peripheral osteosarcoma	10.0	TP53 SNRNP25
6	bone osteosarcoma	9.9	TP53 SNRNP25
7	adrenocortical carcinoma, hereditary	9.8	TP53 CHEK2
8	li-fraumeni syndrome 2	8.9	SNRNP25 SLC25A5 ME2 KRTAP10-1 DOCK5 CHEK2

Graphical network of the top 20 diseases related to Li-Fraumeni Syndrome 1:

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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	TP53

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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):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TP53	Tumor Protein P53	Protein Coding	540.4	Pathogenic/Likely pathogenic ⁶ Genetic Tests ²⁹ Drug response ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
2	CHEK2	Checkpoint Kinase 2	Protein Coding	12.67	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
3	WRAP53	WD Repeat Containing Antisense To TP53	Protein Coding	8.14	GeneCards inferred via : Variants (show sections)
4	KRTAP10-1	Keratin Associated Protein 10-1	Protein Coding	5.7	DISEASES inferred ¹⁵
5	ME2	Malic Enzyme 2	Protein Coding	5.58	DISEASES inferred ¹⁵
6	DOCK5	Dedicator Of Cytokinesis 5	Protein Coding	5.45	DISEASES inferred ¹⁵
7	FTCDNL1	Formiminotransferase Cyclodeaminase N-Terminal Like	Protein Coding	5.2	DISEASES inferred ¹⁵
8	SLC17A8	Solute Carrier Family 17 Member 8	Protein Coding	5.12	DISEASES inferred ¹⁵
9	SNRNP25	Small Nuclear Ribonucleoprotein U11/U12 Subunit 25	Protein Coding	4.99	DISEASES inferred ¹⁵
10	SLC25A5	Solute Carrier Family 25 Member 5	Protein Coding	4.9	DISEASES inferred ¹⁵
11	GABBR2	Gamma-Aminobutyric Acid Type B Receptor Subunit 2	Protein Coding	4.88	DISEASES inferred ¹⁵
12	PCAT4	Prostate Cancer Associated Transcript 4	RNA Gene	4.87	DISEASES inferred ¹⁵
13	POU6F2	POU Class 6 Homeobox 2	Protein Coding	4.76	DISEASES inferred ¹⁵

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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 172) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TP53	NM_001126112.2(TP53):c.1015G>T (p.Glu339Ter)	SNV	Pathogenic	438708	rs17882252	17:7574012-7574012	17:7670694-7670694
2	TP53	NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	SNV	Pathogenic	12347	rs121912651	17:7577539-7577539	17:7674221-7674221
3	TP53	NM_001126112.2(TP53):c.733G>T (p.Gly245Cys)	SNV	Pathogenic	12349	rs28934575	17:7577548-7577548	17:7674230-7674230
4	TP53	NM_001126112.2(TP53):c.755T>C (p.Leu252Pro)	SNV	Pathogenic	12350	rs121912653	17:7577526-7577526	17:7674208-7674208
5	TP53	NM_001126112.2(TP53):c.875A>T (p.Lys292Ile)	SNV	Pathogenic	12378	rs121912663	17:7577063-7577063	17:7673745-7673745
6	TP53	NM_000546.6(TP53):c.1010G>A (p.Arg337His)	SNV	Pathogenic	12379	rs121912664	17:7574017-7574017	17:7670699-7670699
7	TP53	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	SNV	Pathogenic	12356	rs11540652	17:7577538-7577538	17:7674220-7674220
8	TP53	NM_001126112.2(TP53):c.398T>C (p.Met133Thr)	SNV	Pathogenic	12357	rs28934873	17:7578532-7578532	17:7675214-7675214
9	TP53	NM_001126112.2(TP53):c.628_629del (p.Asn210fs)	deletion	Pathogenic	12361	rs587776768	17:7578220-7578221	17:7674902-7674903
10	TP53	NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	SNV	Pathogenic	12365	rs28934575	17:7577548-7577548	17:7674230-7674230
11	TP53	NM_000546.6(TP53):c.818G>A (p.Arg273His)	SNV	Pathogenic	12366	rs28934576	17:7577120-7577120	17:7673802-7673802
12	TP53	NM_001126112.2(TP53):c.532del (p.His178fs)	deletion	Pathogenic	12377	rs786202525	17:7578398-7578398	17:7675080-7675080
13	TP53	TP53, 1-BP DEL, CODON 257	deletion	Pathogenic	12373
14	TP53	TP53, 11-BP DEL/5-BP INS	indel	Pathogenic	12381
15	TP53	NM_000546.6(TP53):c.524G>A (p.Arg175His)	SNV	Pathogenic	12374	rs28934578	17:7578406-7578406	17:7675088-7675088
16	TP53	NM_001126112.2(TP53):c.659A>C (p.Tyr220Ser)	SNV	Pathogenic	12383	rs121912666	17:7578190-7578190	17:7674872-7674872
17	TP53	NM_000546.6(TP53):c.637C>T (p.Arg213Ter)	SNV	Pathogenic	43590	rs397516436	17:7578212-7578212	17:7674894-7674894
18	TP53	NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	SNV	Pathogenic	135359	rs587778720	17:7578211-7578211	17:7674893-7674893
19	TP53	NM_000546.6(TP53):c.455C>T (p.Pro152Leu)	SNV	Pathogenic	142766	rs587782705	17:7578475-7578475	17:7675157-7675157
20	TP53	NM_001126112.2(TP53):c.455dup (p.Pro153fs)	duplication	Pathogenic	182958	rs730882019	17:7578474-7578475	17:7675156-7675157
21	TP53	NM_001126112.2(TP53):c.273G>A (p.Trp91Ter)	SNV	Pathogenic	233650	rs876660548	17:7579414-7579414	17:7676096-7676096
22	TP53	NM_001126112.2(TP53):c.794T>C (p.Leu265Pro)	SNV	Pathogenic/Likely pathogenic	245777	rs879253942	17:7577144-7577144	17:7673826-7673826
23	TP53	NM_001126112.2(TP53):c.799C>T (p.Arg267Trp)	SNV	Pathogenic/Likely pathogenic	141764	rs55832599	17:7577139-7577139	17:7673821-7673821
24	TP53	NM_000546.6(TP53):c.473G>A (p.Arg158His)	SNV	Pathogenic/Likely pathogenic	141963	rs587782144	17:7578457-7578457	17:7675139-7675139
25	TP53	NM_000546.6(TP53):c.542G>A (p.Arg181His)	SNV	Pathogenic/Likely pathogenic	142320	rs397514495	17:7578388-7578388	17:7675070-7675070
26	TP53	NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	SNV	Pathogenic/Likely pathogenic	43594	rs121913343	17:7577121-7577121	17:7673803-7673803
27	TP53	NM_001126112.2(TP53):c.535C>T (p.His179Tyr)	SNV	Pathogenic/Likely pathogenic	127815	rs587780070	17:7578395-7578395	17:7675077-7675077
28	TP53	NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	SNV	Pathogenic/Likely pathogenic	12364	rs28934574	17:7577094-7577094	17:7673776-7673776
29	TP53	NM_001126112.2(TP53):c.734G>A (p.Gly245Asp)	SNV	Pathogenic/Likely pathogenic	12355	rs121912656	17:7577547-7577547	17:7674229-7674229
30	TP53	NM_001126112.2(TP53):c.772G>A (p.Glu258Lys)	SNV	Pathogenic/Likely pathogenic	12348	rs121912652	17:7577509-7577509	17:7674191-7674191
31	TP53	NM_001126112.2(TP53):c.96+1G>T	SNV	Pathogenic/Likely pathogenic	482212	rs1131691003	17:7579699-7579699	17:7676381-7676381
32	TP53	NM_001126112.2(TP53):c.499C>T (p.Gln167Ter)	SNV	Pathogenic/Likely pathogenic	528250	rs1555526097	17:7578431-7578431	17:7675113-7675113
33	TP53	NM_001126112.2(TP53):c.559+1G>A	SNV	Pathogenic/Likely pathogenic	428908	rs1131691042	17:7578370-7578370	17:7675052-7675052
34	TP53	NM_001126112.2(TP53):c.38dup (p.Leu14fs)	duplication	Likely pathogenic	487431	rs1555527002	17:7579874-7579875	17:7676556-7676557
35	TP53	NM_000546.6(TP53):c.215C>G (p.Pro72Arg)	SNV	drug response	12351	rs1042522	17:7579472-7579472	17:7676154-7676154
36	TP53	NM_001126112.2(TP53):c.919+1G>A	SNV	Likely pathogenic	633606	rs1131691039	17:7577018-7577018	17:7673700-7673700
37	TP53	NM_001126112.2(TP53):c.814G>T (p.Val272Leu)	SNV	Likely pathogenic	12358	rs121912657	17:7577124-7577124	17:7673806-7673806
38	TP53	NM_001126112.2(TP53):c.412G>C (p.Ala138Pro)	SNV	Likely pathogenic	12376	rs28934875	17:7578518-7578518	17:7675200-7675200
39	TP53	NM_001126112.2(TP53):c.1031T>C (p.Leu344Pro)	SNV	Likely pathogenic	12375	rs121912662	17:7573996-7573996	17:7670678-7670678
40	TP53	NM_001126112.2(TP53):c.267del (p.Ser90fs)	deletion	Likely pathogenic	156515	rs587783062	17:7579420-7579420	17:7676102-7676102
41	TP53	NM_001126112.2(TP53):c.665C>T (p.Pro222Leu)	SNV	Conflicting interpretations of pathogenicity	161397	rs146340390	17:7578184-7578184	17:7674866-7674866
42	TP53	NM_001126112.2(TP53):c.1015G>A (p.Glu339Lys)	SNV	Conflicting interpretations of pathogenicity	142846	rs17882252	17:7574012-7574012	17:7670694-7670694
43	TP53	NM_001126112.2(TP53):c.787A>G (p.Asn263Asp)	SNV	Conflicting interpretations of pathogenicity	142916	rs72661119	17:7577151-7577151	17:7673833-7673833
44	TP53	NM_001126112.2(TP53):c.646G>A (p.Val216Met)	SNV	Conflicting interpretations of pathogenicity	182965	rs730882025	17:7578203-7578203	17:7674885-7674885
45	TP53	NM_001126112.2(TP53):c.993+13G>C	SNV	Conflicting interpretations of pathogenicity	182949	rs369599972	17:7576840-7576840	17:7673522-7673522
46	TP53	NM_001126112.2(TP53):c.782+12C>T	SNV	Conflicting interpretations of pathogenicity	182948	rs17881780	17:7577487-7577487	17:7674169-7674169
47	TP53	NM_001126112.2(TP53):c.848G>A (p.Arg283His)	SNV	Conflicting interpretations of pathogenicity	142324	rs371409680	17:7577090-7577090	17:7673772-7673772
48	TP53	NM_001126112.2(TP53):c.427G>A (p.Val143Met)	SNV	Conflicting interpretations of pathogenicity	142657	rs587782620	17:7578503-7578503	17:7675185-7675185
49	TP53	NM_001126112.2(TP53):c.107C>A (p.Pro36Gln)	SNV	Conflicting interpretations of pathogenicity	141597	rs587781866	17:7579580-7579580	17:7676262-7676262
50	TP53	NM_000546.6(TP53):c.642T>G (p.His214Gln)	SNV	Conflicting interpretations of pathogenicity	140943	rs587781386	17:7578207-7578207	17:7674889-7674889

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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

Pathways related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Human T-cell leukemia virus 1 infection ³⁶	11.67	TP53 SLC25A5 CHEK2
2	Cellular senescence (KEGG) ³⁶	11.32	TP53 SLC25A5 CHEK2
3	Integrated Cancer Pathway ¹	11.03	TP53 CHEK2
4	Cell cycle Role of 14-3-3 proteins in cell cycle regulation ²² Show member pathways 14-3-3 and Cell Cycle Regulation ⁶³	10.97	TP53 CHEK2
5	DNA damage_ATM/ATR regulation of G1/S checkpoint ²²	10.9	TP53 CHEK2
6	PLK3 signaling events ¹	9.32	TP53 CHEK2

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GO Terms for Li-Fraumeni Syndrome 1

Biological processes related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to gamma radiation	GO:0071480	9.32	TP53 CHEK2
2	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	GO:0042771	9.26	TP53 CHEK2
3	response to gamma radiation	GO:0010332	9.16	TP53 CHEK2
4	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:0006978	8.96	TP53 CHEK2
5	replicative senescence	GO:0090399	8.62	TP53 CHEK2

Molecular functions related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ubiquitin protein ligase binding	GO:0031625	8.92	WRAP53 TP53 SLC25A5 CHEK2

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Sources for Li-Fraumeni Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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:

Graphical network of the top 20 diseases related to Li-Fraumeni Syndrome 1:

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

Pathways related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

GO Terms for Li-Fraumeni Syndrome 1

Biological processes related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

Molecular functions related to Li-Fraumeni Syndrome 1 according to GeneCards Suite gene sharing:

Sources for Li-Fraumeni Syndrome 1