MCID: LJN002
MIFTS: 24

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 45 22 23
Lujan-Fryns Syndrome 22 23
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size and Distinct Craniofacial Anomalies 45
Mental Retardation, X-Linked, with Marfanoid Habitus 22
X-Linked Intellectual Deficit with Marfanoid Habitus 23
 
X-Linked Mental Retardation with Marfanoid Habitus 23
Xlmr with Marfanoid Features 23
Li-Fraumeni Syndrome 65
Lfs 23

Classifications:



Summaries for Lujan Syndrome

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NIH Rare Diseases:45 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 and lung, and related mouse phenotypes are limbs/digits/tail and craniofacial.

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.

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 syndrome11.7
2lassa fever11.3
3brain edema10.1
4lujan-fryns syndrome10.0
5lumbar malsegmentation short stature9.5MED12, TP53
6fallopian tube carcinosarcoma9.5MED12, TP53
7immune system cancer9.4MED12, TP53
8osteoblastoma9.3MED12, 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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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

Anatomical Context for Lujan Syndrome

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MalaCards organs/tissues related to Lujan Syndrome:

33
Ovary, Lung

Animal Models for Lujan Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Lujan Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.5MED12, TP53
2MP:00053829.4MED12, TP53

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
1TP53NM_000546.5(TP53): c.743G> A (p.Arg248Gln)single nucleotide variantLikely pathogenic, Pathogenicrs11540652GRCh37Chr 17, 7577538: 7577538
2TP53NM_000546.5(TP53): c.844C> T (p.Arg282Trp)single nucleotide variantPathogenicrs28934574GRCh37Chr 17, 7577094: 7577094
3TP53NM_000546.5(TP53): c.638G> A (p.Arg213Gln)single nucleotide variantPathogenicrs587778720GRCh38Chr 17, 7674893: 7674893

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:00458939.4MED12, TP53
2positive regulation of transcription from RNA polymerase II promoterGO:00459449.1MED12, TP53

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