MCID: LJN002
MIFTS: 21

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 46 23 24
Lujan-Fryns Syndrome 23 24
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size and Distinct Craniofacial Anomalies 46
Mental Retardation, X-Linked, with Marfanoid Habitus 23
X-Linked Intellectual Deficit with Marfanoid Habitus 24
 
X-Linked Mental Retardation with Marfanoid Habitus 24
Xlmr with Marfanoid Features 24
Li-Fraumeni Syndrome 66
Lfs 24

Classifications:



Summaries for Lujan Syndrome

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NIH Rare Diseases:46 Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). most of the cases occur in males. lujan syndrome is caused by changes (mutations) in the med12 gene and is inherited in an x-linked manner. treatment is based on the signs and symptoms present in each person and may include special education; physical therapy, occupational therapy, and speech therapy for developmental delays; and medications to control seizures. last updated: 11/10/2015

MalaCards based summary: Lujan Syndrome, also known as lujan-fryns syndrome, is related to li-fraumeni syndrome and lassa fever. 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.

Genetics Home Reference:24 Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.

Related Diseases for Lujan Syndrome

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1li-fraumeni syndrome11.7
2lassa fever11.3
3brain edema10.1
4lujan-fryns syndrome10.0
5manouvrier syndrome9.7MED12, TP53
6simple partial epilepsy9.6MED12, TP53
7cell type benign neoplasm9.6MED12, TP53
8cartilage cancer9.5MED12, TP53
9capillary disease9.5MED12, TP53
10breast adenoma9.4MED12, TP53
11fallopian tube adenosarcoma9.2MED12, 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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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 Syndrome23 MED12

Anatomical Context for Lujan Syndrome

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MalaCards organs/tissues related to Lujan Syndrome:

34
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)single nucleotide variantLikely pathogenic, Pathogenicrs121912651GRCh37Chr 17, 7577539: 7577539
2TP53NM_000546.5(TP53): c.725G> A (p.Cys242Tyr)single nucleotide variantPathogenicrs121912655GRCh37Chr 17, 7577556: 7577556
3TP53NM_000546.5(TP53): c.734G> A (p.Gly245Asp)single nucleotide variantPathogenicrs121912656GRCh37Chr 17, 7577547: 7577547
4TP53NM_000546.5(TP53): c.743G> A (p.Arg248Gln)single nucleotide variantLikely pathogenic, Pathogenicrs11540652GRCh37Chr 17, 7577538: 7577538
5TP53NM_000546.5(TP53): c.844C> T (p.Arg282Trp)single nucleotide variantPathogenicrs28934574GRCh37Chr 17, 7577094: 7577094
6TP53NM_000546.5(TP53): c.733G> A (p.Gly245Ser)single nucleotide variantLikely pathogenic, Pathogenicrs28934575GRCh37Chr 17, 7577548: 7577548
7TP53NM_000546.5(TP53): c.974G> T (p.Gly325Val)single nucleotide variantPathogenicrs121912659GRCh37Chr 17, 7576872: 7576872
8TP53NM_000546.5(TP53): c.524G> A (p.Arg175His)single nucleotide variantPathogenicrs28934578GRCh37Chr 17, 7578406: 7578406
9TP53NM_000546.5(TP53): c.1010G> A (p.Arg337His)single nucleotide variantPathogenicrs121912664GRCh37Chr 17, 7574017: 7574017
10TP53NM_000546.5(TP53): c.659A> G (p.Tyr220Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121912666GRCh37Chr 17, 7578190: 7578190
11TP53NM_000546.5(TP53): c.701A> G (p.Tyr234Cys)single nucleotide variantLikely pathogenic, Pathogenicrs587780073GRCh37Chr 17, 7577580: 7577580
12TP53NM_000546.5(TP53): c.869G> A (p.Arg290His)single nucleotide variantPathogenicrs55819519GRCh37Chr 17, 7577069: 7577069
13TP53NM_000546.5(TP53): c.638G> A (p.Arg213Gln)single nucleotide variantPathogenicrs587778720GRCh37Chr 17, 7578211: 7578211
14TP53NM_000546.5(TP53): c.1101-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs587781664GRCh37Chr 17, 7573010: 7573010
15TP53NM_000546.5(TP53): c.473G> A (p.Arg158His)single nucleotide variantLikely pathogenic, Pathogenicrs587782144GRCh37Chr 17, 7578457: 7578457
16TP53NM_000546.5(TP53): c.916C> T (p.Arg306Ter)single nucleotide variantPathogenicrs121913344GRCh37Chr 17, 7577022: 7577022
17TP53NM_000546.5(TP53): c.542G> A (p.Arg181His)single nucleotide variantLikely pathogenic, Pathogenicrs397514495GRCh38Chr 17, 7675070: 7675070
18TP53NM_000546.5(TP53): c.455C> T (p.Pro152Leu)single nucleotide variantPathogenicrs587782705GRCh38Chr 17, 7675157: 7675157
19TP53NM_001126115.1(TP53): c.318T> G (p.Cys106Trp)single nucleotide variantPathogenicrs193920789GRCh38Chr 17, 7674249: 7674249
20TP53NM_000546.5(TP53): c.375G> A (p.Thr125=)single nucleotide variantPathogenicrs55863639GRCh37Chr 17, 7579312: 7579312
21TP53NM_000546.5(TP53): c.709A> G (p.Met237Val)single nucleotide variantPathogenicrs730882004GRCh38Chr 17, 7674254: 7674254
22TP53NM_000546.5(TP53): c.824G> A (p.Cys275Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs863224451GRCh38Chr 17, 7673796: 7673796
23TP53NM_000546.5(TP53): c.584T> C (p.Ile195Thr)single nucleotide variantPathogenicrs760043106GRCh38Chr 17, 7674947: 7674947
24TP53NM_000546.5(TP53): c.672+1G> Asingle nucleotide variantPathogenicrs863224499GRCh38Chr 17, 7674858: 7674858
25TP53NM_000546.5(TP53): c.973G> T (p.Gly325Ter)single nucleotide variantPathogenicrs863224500GRCh37Chr 17, 7576873: 7576873
26TP53NM_000546.5(TP53): c.273G> A (p.Trp91Ter)single nucleotide variantPathogenicrs876660548GRCh37Chr 17, 7579414: 7579414
27TP53NM_000546.5(TP53): c.-202-?_*1207+?deldeletionPathogenic
28TP53NM_000546.5(TP53): c.662delA (p.Glu221Glyfs)deletionPathogenicrs878854071GRCh38Chr 17, 7674869: 7674869
29TP53NM_000546.5(TP53): c.673-1G> Tsingle nucleotide variantPathogenicrs878854073GRCh37Chr 17, 7577609: 7577609
30TP53NM_000546.5(TP53): c.845G> A (p.Arg282Gln)single nucleotide variantPathogenicrs730882008GRCh38Chr 17, 7673775: 7673775
31TP53NM_000546.5(TP53): c.586C> T (p.Arg196Ter)single nucleotide variantPathogenicrs397516435GRCh37Chr 17, 7578263: 7578263
32TP53NM_000546.5(TP53): c.637C> T (p.Arg213Ter)single nucleotide variantPathogenicrs397516436GRCh37Chr 17, 7578212: 7578212
33TP53NM_000546.5(TP53): c.817C> T (p.Arg273Cys)single nucleotide variantLikely 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
1transcription factor bindingGO:00081349.1MED12, TP53
2chromatin bindingGO:00036829.0MED12, TP53

Sources for Lujan Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet