LFS
MCID: LJN002
MIFTS: 37

Lujan Syndrome (LFS) malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases categories

Summaries for Lujan Syndrome

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Lujan?Fryns syndrome (LFS), also referred to as X-linked mental retardation with Marfanoid habitus and... more...

MalaCards: Lujan Syndrome, also known as lujan-fryns syndrome, is related to schizophrenia and lujan fryns syndrome, and has symptoms including psychosis/schizophrenia/maniac disorder, prominent/bat ears and atrial septal defect/interauricular communication. An important gene associated with Lujan Syndrome is MED12 (mediator complex subunit 12), and among its related pathways is Gene Expression. Affiliated tissues include heart, brain and bone.

Description from OMIM:48 309520,300676

Aliases & Classifications for Lujan Syndrome

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Sources:
21GeneTests, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
lujan-fryns syndrome:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

lujan syndrome 21 22 50
lujan-fryns syndrome 22 48 50
x-linked mental retardation with marfanoid habitus 22 50
x-linked intellectual disability with marfanoid habitus 50
x-linked intellectual deficit with marfanoid habitus 22
xlmr with marfanoid features 22
xlmr with marfanoid habitus 50
lujan fryns syndrome 63
li-fraumeni syndrome 63
lfs 22


External Ids:

SNOMED-CT via Orphanet60 422437002
ICD10 via Orphanet27 Q87.8
UMLS via Orphanet64 C0796022

Related Diseases for Lujan Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Lujan Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1schizophrenia30.6MED12
2lujan fryns syndrome10.9
3fryns syndrome10.9
4mental retardation10.6
5li-fraumeni syndrome10.5
6focal segmental glomerulosclerosis10.3
7eating disorder10.3
8mental retardation, x-linked10.3
9brain edema10.3
10lassa fever10.1
11intrahepatic cholestasis10.0
12common cold10.0
13cerebritis10.0
14adrenocortical carcinoma10.0
15arthritis10.0
16breast cancer10.0
17cholestasis10.0
18filariasis10.0
19ischemia10.0
20blindness10.0
21intellectual disability9.9UPF3B, MED12

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



Diseases related to lujan syndrome

Symptoms for Lujan Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

309520

Clinical features from OMIM:

309520,300676

Symptoms:

50 (show all 33)
  • psychosis/schizophrenia/maniac disorder
  • prominent/bat ears
  • atrial septal defect/interauricular communication
  • hyperactivity/attention deficit
  • x-linked recessive inheritance
  • hyperextensible joints/articular hyperlaxity
  • high nasal bridge
  • short philtrum
  • narrow face
  • long hand/arachnodactyly
  • tall stature/gigantism/growth acceleration
  • marfanoid morphotype
  • high forehead
  • camptodactyly of some fingers
  • short hand/brachydactyly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • flat cheek bones/malar hypoplasia
  • low set ears/posteriorly rotated ears
  • pectus excavatum
  • corpus callosum/septum pellucidum total/partial agenesis
  • scoliosis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • high vaulted/narrow palate
  • hypotonia
  • psychic/behavioural troubles
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • delirium/hallucination
  • macroorchidism/macrotestes
  • abnormal cry/voice/phonation disorder/nasal speech
  • brachycephaly/flat occiput
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Lujan Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Lujan Syndrome

Drug clinical trials:

Search ClinicalTrials for Lujan Syndrome

Search NIH Clinical Center for Lujan Syndrome

Search CenterWatch for Lujan Syndrome

Genetic Tests for Lujan Syndrome

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21GeneTests
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Genetic tests related to Lujan Syndrome:

id Genetic test Affiliating Genes
1 Lujan Syndrome21 MED12

Anatomical Context for Lujan Syndrome

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34MalaCards
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MalaCards organs/tissues related to Lujan Syndrome:

34
Heart, Brain, Bone

Animal Models for Lujan Syndrome or affiliated genes

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Publications for Lujan Syndrome

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Sources:
53PubMed
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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Lujan Syndrome:

65
id Symbol AA change Variation ID SNP ID
1MED12p.Asn1007SerVAR_037534

Clinvar genetic disease variations for Lujan Syndrome:

1
id Gene Name 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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lujan Syndrome

Search GEO for disease gene expression data for Lujan Syndrome.

Pathways for genes affiliated with Lujan Syndrome

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51PathCards, 56Reactome
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Pathways related to Lujan Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0UPF3B, MED12

Compounds for genes affiliated with Lujan Syndrome

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GO Terms for genes affiliated with Lujan Syndrome

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17Gene Ontology
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Cellular components related to Lujan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056549.0UPF3B, MED12

Biological processes related to Lujan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gene expressionGO:0104679.0UPF3B, MED12

Products for genes affiliated with Lujan Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lujan Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet