LFS
MCID: LJN002
MIFTS: 21

Lujan Syndrome (LFS) 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 48 24 25
Lujan-Fryns Syndrome 24 25
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size and Distinct Craniofacial Anomalies 48
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
Lfs 25

Classifications:



Summaries for Lujan Syndrome

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NIH Rare Diseases:48 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 lujan-fryns syndrome. An important gene associated with Lujan Syndrome is MED12 (Mediator Complex Subunit 12), and among its related pathways is Thyroid hormone signaling pathway. Related mouse phenotype Increased shRNA abundance (Z-score > 2).

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.

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 syndrome10.8
3lymphocytic vasculitis9.8MED12, TP53
4central nervous system primitive neuroectodermal neoplasm9.8MED12, TP53
5pericardium leiomyoma9.8MED12, TP53
6male reproductive organ benign neoplasm9.7MED12, TP53

Graphical network of diseases related to Lujan Syndrome:



Diseases related to lujan syndrome

Symptoms & Phenotypes for Lujan Syndrome

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GenomeRNAi Phenotypes related to Lujan Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.1MED12, TP53

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 26611

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
5Effectiveness Monitoring of Home Non-invasive Mechanical Ventilation by Digital Diagnosis PlatformRecruitingNCT03085537
6Ultrasound 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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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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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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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:00036829.7MED12, TP53
2transcription factor bindingGO:00081349.1MED12, TP53

Sources for Lujan Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet