Lujan Syndrome (LFS) malady

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

Aliases & Classifications for Lujan Syndrome

Aliases & Descriptions for Lujan Syndrome:

Name: Lujan Syndrome 50 24 25
Lujan-Fryns Syndrome 24 25
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size and Distinct Craniofacial Anomalies 50
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


Summaries for Lujan Syndrome

NIH Rare Diseases : 50 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/superpathways is Thyroid hormone signaling pathway. The drug Vaccines has been mentioned in the context of this disorder. Related phenotype is 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

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

id Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 12.0
2 lujan-fryns syndrome 10.8
3 lymphocytic vasculitis 9.8 MED12 TP53
4 central nervous system primitive neuroectodermal neoplasm 9.8 MED12 TP53
5 pericardium leiomyoma 9.8 MED12 TP53
6 male reproductive organ benign neoplasm 9.7 MED12 TP53

Graphical network of the top 20 diseases related to Lujan Syndrome:

Diseases related to Lujan Syndrome

Symptoms & Phenotypes for Lujan Syndrome

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

id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.58 MED12
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.58 MED12
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.58 MED12
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.58 MED12
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.58 TP53
6 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.58 TP53
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.58 TP53
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.58 TP53
9 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.58 MED12
10 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.58 MED12
11 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.58 TP53
12 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.58 TP53 MED12
13 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.58 MED12
14 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.58 TP53
15 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.58 TP53
16 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.58 MED12
17 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.58 MED12

Drugs & Therapeutics for Lujan Syndrome

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

id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 1, Phase 2

Interventional clinical trials:

id Name Status NCT ID Phase
1 Safety of and Immune Response to a Meningitis Vaccine in HIV-Infected Children and Youth Completed NCT00459316 Phase 1, Phase 2
2 Ultrasound Characterization of Ovarian Morphology During Weight Loss in Women With Polycystic Ovary Syndrome (PCOS) Completed NCT01785719
3 Nutritional and Metabolic Correlates of Ovarian Morphology in Women With Polycystic Ovary Syndrome Recruiting NCT01927471
4 Comparison of Lifestyle Markers Between Women With and Without Polycystic Ovary Syndrome Recruiting NCT01859663
5 Effectiveness Monitoring of Home Non-invasive Mechanical Ventilation by Digital Diagnosis Platform Recruiting NCT03085537
6 Ultrasound Characterization of Ovarian Follicle Dynamics in Women With Amenorrhea Recruiting NCT01927432

Search NIH Clinical Center for Lujan Syndrome

Genetic Tests for Lujan Syndrome

Genetic tests related to Lujan Syndrome:

id Genetic test Affiliating Genes
1 Lujan Syndrome 24 MED12

Anatomical Context for Lujan Syndrome

Publications for Lujan Syndrome

Articles related to Lujan Syndrome:

id Title Authors Year
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. ( 17369503 )
Lujan syndrome in a Mexican boy. ( 1605262 )

Variations for Lujan Syndrome

ClinVar genetic disease variations for Lujan Syndrome:

id Gene Variation Type Significance SNP ID Assembly Location
1 MED12 NM_005120.2(MED12): c.3020A> G (p.Asn1007Ser) single nucleotide variant Pathogenic rs80338759 GRCh37 Chromosome X, 70347781: 70347781

Expression for Lujan Syndrome

Search GEO for disease gene expression data for Lujan Syndrome.

Pathways for Lujan Syndrome

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

id Super pathways Score Top Affiliating Genes
1 10.69 MED12 TP53

GO Terms for Lujan Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 8.62 MED12 TP53

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

id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.96 MED12 TP53
2 transcription factor binding GO:0008134 8.62 MED12 TP53

Sources for Lujan Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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