MCID: LJN002
MIFTS: 21

Lujan Syndrome malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories

Aliases & Classifications for Lujan Syndrome

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Aliases & Descriptions for Lujan Syndrome:

Name: Lujan Syndrome 22 23
X-Linked Mental Retardation with Marfanoid Habitus 23 24
Mental Retardation, X-Linked, with Marfanoid Habitus 22
X-Linked Intellectual Deficit with Marfanoid Habitus 23
 
Xlmr with Marfanoid Features 23
Lujan Fryns Syndrome 22
Lujan-Fryns Syndrome 23
Lfs 23


Classifications:



Summaries for Lujan Syndrome

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Genetics Home Reference:23 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 x-linked mental retardation with marfanoid habitus, is related to fryns syndrome and li-fraumeni syndrome. An important gene associated with Lujan Syndrome is MED12 (Mediator Complex Subunit 12). Affiliated tissues include ovary.

Related Diseases for Lujan Syndrome

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Graphical network of the top 20 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
1Ultrasound Characterization of Ovarian Morphology During Weight Loss in Women With Polycystic Ovary Syndrome (PCOS)CompletedNCT01785719
2Nutritional and Metabolic Correlates of Ovarian Morphology in Women With Polycystic Ovary SyndromeRecruitingNCT01927471
3Comparison of Lifestyle Markers Between Women With and Without Polycystic Ovary SyndromeRecruitingNCT01859663
4Ultrasound 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 Syndrome22 MED12
2 X-Linked Mental Retardation with Marfanoid Habitus Syndrome24

Anatomical Context for Lujan Syndrome

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MalaCards organs/tissues related to Lujan Syndrome:

33
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
id Gene Variation Type Significance SNP ID Assembly Location
1MED12NM_005120.2(MED12): c.3020A> G (p.Asn1007Ser)single nucleotide variantPathogenicrs80338759GRCh37Chr X, 70347781: 70347781

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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GO Terms for genes affiliated with Lujan Syndrome

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Sources for Lujan Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet