LFS1
MCID: LFR009
MIFTS: 26

Li-Fraumeni Syndrome 1 (LFS1)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

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:



External Ids:

Disease Ontology 12 DOID:0111503

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).

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:



Diseases related to Li-Fraumeni Syndrome 1

Symptoms & Phenotypes for Li-Fraumeni Syndrome 1

Drugs & Therapeutics for Li-Fraumeni Syndrome 1

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

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

Anatomical Context for Li-Fraumeni Syndrome 1

Publications for Li-Fraumeni Syndrome 1

Articles related to Li-Fraumeni Syndrome 1:

# Title Authors PMID Year
1
The etiology of osteosarcoma. 61
20213384 2009

Variations for Li-Fraumeni Syndrome 1

ClinVar genetic disease variations for Li-Fraumeni Syndrome 1:

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# 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 257deletion Pathogenic 12373
14 TP53 TP53, 11-BP DEL/5-BP INSindel 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>TSNV 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>ASNV 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>ASNV 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>CSNV Conflicting interpretations of pathogenicity 182949 rs369599972 17:7576840-7576840 17:7673522-7673522
46 TP53 NM_001126112.2(TP53):c.782+12C>TSNV 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

Expression for Li-Fraumeni Syndrome 1

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

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 11.67 TP53 SLC25A5 CHEK2
2 11.32 TP53 SLC25A5 CHEK2
3 11.03 TP53 CHEK2
4
Show member pathways
10.97 TP53 CHEK2
5 10.9 TP53 CHEK2
6 9.32 TP53 CHEK2

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

Sources for Li-Fraumeni Syndrome 1

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