MCID: LJN002
MIFTS: 22

Lujan Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Mental diseases

Aliases & Classifications for Lujan Syndrome

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Aliases & Descriptions for Lujan Syndrome:

Name: Lujan Syndrome 47 24 25
Lujan-Fryns Syndrome 24 25
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size and Distinct Craniofacial Anomalies 47
Mental Retardation, X-Linked, with Marfanoid Habitus 24
X-Linked Intellectual Deficit with Marfanoid Habitus 25
 
X-Linked Mental Retardation with Marfanoid Habitus 25
Xlmr with Marfanoid Features 25
Li-Fraumeni Syndrome 67
Lfs 25

Classifications:



Summaries for Lujan Syndrome

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Genetics Home Reference:25 Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.

MalaCards based summary: Lujan Syndrome, also known as lujan-fryns syndrome, is related to li-fraumeni syndrome and lujan-fryns syndrome. An important gene associated with Lujan Syndrome is TP53 (Tumor Protein P53), and among its related pathways is Thyroid hormone signaling pathway. Affiliated tissues include ovary.

Related Diseases for Lujan Syndrome

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Diseases related to Lujan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1li-fraumeni syndrome12.0
2lujan-fryns syndrome10.9
3manouvrier syndrome9.7MED12, TP53
4simple partial epilepsy9.6MED12, TP53
5cell type benign neoplasm9.6MED12, TP53
6cartilage cancer9.5MED12, TP53
7capillary disease9.5MED12, TP53
8breast adenoma9.5MED12, TP53
9fallopian tube adenosarcoma9.3MED12, TP53

Graphical network of diseases related to Lujan Syndrome:



Diseases related to lujan syndrome

Symptoms for Lujan Syndrome

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Drugs & Therapeutics for Lujan Syndrome

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Drugs for Lujan Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VaccinesPhase 1, Phase 26428

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety of and Immune Response to a Meningitis Vaccine in HIV-Infected Children and YouthCompletedNCT00459316Phase 1, Phase 2
2Ultrasound Characterization of Ovarian Morphology During Weight Loss in Women With Polycystic Ovary Syndrome (PCOS)CompletedNCT01785719
3Nutritional and Metabolic Correlates of Ovarian Morphology in Women With Polycystic Ovary SyndromeRecruitingNCT01927471
4Comparison of Lifestyle Markers Between Women With and Without Polycystic Ovary SyndromeRecruitingNCT01859663
5Ultrasound Characterization of Ovarian Follicle Dynamics in Women With AmenorrheaRecruitingNCT01927432

Search NIH Clinical Center for Lujan Syndrome

Genetic Tests for Lujan Syndrome

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Genetic tests related to Lujan Syndrome:

id Genetic test Affiliating Genes
1 Lujan Syndrome24 MED12

Anatomical Context for Lujan Syndrome

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MalaCards organs/tissues related to Lujan Syndrome:

35
Ovary

Animal Models for Lujan Syndrome or affiliated genes

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Publications for Lujan Syndrome

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Articles related to Lujan Syndrome:

idTitleAuthorsYear
1
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. (17369503)
2007
2
Lujan syndrome in a Mexican boy. (1605262)
1992

Variations for Lujan Syndrome

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Clinvar genetic disease variations for Lujan Syndrome:

5 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1TP53NM_000546.5(TP53): c.742C> T (p.Arg248Trp)SNVLikely pathogenic, Pathogenicrs121912651GRCh37Chr 17, 7577539: 7577539
2TP53NM_000546.5(TP53): c.725G> A (p.Cys242Tyr)SNVPathogenicrs121912655GRCh37Chr 17, 7577556: 7577556
3TP53NM_000546.5(TP53): c.734G> A (p.Gly245Asp)SNVPathogenicrs121912656GRCh37Chr 17, 7577547: 7577547
4TP53NM_000546.5(TP53): c.743G> A (p.Arg248Gln)SNVLikely pathogenic, Pathogenicrs11540652GRCh37Chr 17, 7577538: 7577538
5TP53NM_000546.5(TP53): c.844C> T (p.Arg282Trp)SNVPathogenicrs28934574GRCh37Chr 17, 7577094: 7577094
6TP53NM_000546.5(TP53): c.733G> A (p.Gly245Ser)SNVLikely pathogenic, Pathogenicrs28934575GRCh37Chr 17, 7577548: 7577548
7TP53NM_000546.5(TP53): c.974G> T (p.Gly325Val)SNVPathogenicrs121912659GRCh37Chr 17, 7576872: 7576872
8TP53NM_000546.5(TP53): c.524G> A (p.Arg175His)SNVPathogenicrs28934578GRCh37Chr 17, 7578406: 7578406
9TP53NM_000546.5(TP53): c.1010G> A (p.Arg337His)SNVPathogenicrs121912664GRCh37Chr 17, 7574017: 7574017
10TP53NM_000546.5(TP53): c.659A> G (p.Tyr220Cys)SNVLikely pathogenic, Pathogenicrs121912666GRCh37Chr 17, 7578190: 7578190
11TP53NM_000546.5(TP53): c.701A> G (p.Tyr234Cys)SNVLikely pathogenic, Pathogenicrs587780073GRCh37Chr 17, 7577580: 7577580
12TP53NM_000546.5(TP53): c.869G> A (p.Arg290His)SNVPathogenicrs55819519GRCh37Chr 17, 7577069: 7577069
13TP53NM_000546.5(TP53): c.638G> A (p.Arg213Gln)SNVPathogenicrs587778720GRCh37Chr 17, 7578211: 7578211
14TP53NM_000546.5(TP53): c.1101-2A> GSNVPathogenicrs587781664GRCh37Chr 17, 7573010: 7573010
15TP53NM_000546.5(TP53): c.473G> A (p.Arg158His)SNVLikely pathogenic, Pathogenicrs587782144GRCh37Chr 17, 7578457: 7578457
16TP53NM_000546.5(TP53): c.916C> T (p.Arg306Ter)SNVPathogenicrs121913344GRCh38Chr 17, 7673704: 7673704
17TP53NM_000546.5(TP53): c.542G> A (p.Arg181His)SNVLikely pathogenic, Pathogenicrs397514495GRCh37Chr 17, 7578388: 7578388
18TP53NM_000546.5(TP53): c.455C> T (p.Pro152Leu)SNVPathogenicrs587782705GRCh38Chr 17, 7675157: 7675157
19TP53NM_001126115.1(TP53): c.318T> G (p.Cys106Trp)SNVPathogenicrs193920789GRCh38Chr 17, 7674249: 7674249
20TP53NM_000546.5(TP53): c.375G> A (p.Thr125=)SNVPathogenicrs55863639GRCh37Chr 17, 7579312: 7579312
21TP53NM_000546.5(TP53): c.709A> G (p.Met237Val)SNVPathogenicrs730882004GRCh38Chr 17, 7674254: 7674254
22TP53NM_000546.5(TP53): c.824G> A (p.Cys275Tyr)SNVLikely pathogenic, Pathogenicrs863224451GRCh38Chr 17, 7673796: 7673796
23TP53NM_000546.5(TP53): c.584T> C (p.Ile195Thr)SNVPathogenicrs760043106GRCh38Chr 17, 7674947: 7674947
24TP53NM_000546.5(TP53): c.672+1G> ASNVPathogenicrs863224499GRCh38Chr 17, 7674858: 7674858
25TP53NM_000546.5(TP53): c.973G> T (p.Gly325Ter)SNVPathogenicrs863224500GRCh37Chr 17, 7576873: 7576873
26TP53NM_000546.5(TP53): c.273G> A (p.Trp91Ter)SNVPathogenicrs876660548GRCh37Chr 17, 7579414: 7579414
27TP53NM_000546.5(TP53): c.-202-?_*1207+?deldeletionPathogenicChr na, -1: -1
28TP53NM_000546.5(TP53): c.662delA (p.Glu221Glyfs)deletionPathogenicrs878854071GRCh38Chr 17, 7674869: 7674869
29TP53NM_000546.5(TP53): c.673-1G> TSNVPathogenicrs878854073GRCh37Chr 17, 7577609: 7577609
30TP53NM_000546.5(TP53): c.845G> A (p.Arg282Gln)SNVPathogenicrs730882008GRCh38Chr 17, 7673775: 7673775
31TP53NM_000546.5(TP53): c.586C> T (p.Arg196Ter)SNVPathogenicrs397516435GRCh37Chr 17, 7578263: 7578263
32TP53NM_000546.5(TP53): c.637C> T (p.Arg213Ter)SNVPathogenicrs397516436GRCh37Chr 17, 7578212: 7578212
33TP53NM_000546.5(TP53): c.817C> T (p.Arg273Cys)SNVLikely pathogenic, Pathogenicrs121913343GRCh37Chr 17, 7577121: 7577121

Expression for genes affiliated with Lujan Syndrome

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Search GEO for disease gene expression data for Lujan Syndrome.

Pathways for genes affiliated with Lujan Syndrome

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Pathways related to Lujan Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1MED12, TP53

GO Terms for genes affiliated with Lujan Syndrome

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Cellular components related to Lujan Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:00057309.1MED12, TP53

Biological processes related to Lujan Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription, DNA-templatedGO:00458939.1MED12, TP53

Molecular functions related to Lujan Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00036829.1MED12, TP53
2transcription factor bindingGO:00081349.0MED12, TP53

Sources for Lujan Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet