LFS
MCID: LJN002
MIFTS: 34

Lujan Syndrome (LFS) malady

Neuronal, Fetal categories

Summaries for Lujan Syndrome

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.

MalaCards: Lujan Syndrome, also known as lujan-fryns syndrome, is related to mental retardation and li-fraumeni syndrome, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, flat cheek bones/malar hypoplasia and low set ears/posteriorly rotated ears. An important gene associated with Lujan Syndrome is MED12 (mediator complex subunit 12). Affiliated tissues include brain and heart.

Wikipedia:64 Lujan–Fryns syndrome (LFS), also referred to as X-linked mental retardation with Marfanoid habitus and... more...

Description from OMIM:47 309520,300676

Aliases & Classifications for Lujan Syndrome

Sources:
61UMLS, 21Genetics Home Reference, 20GeneTests, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
lujan-fryns syndrome:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

lujan syndrome 20 21 49
lujan-fryns syndrome 21 47 49
x-linked intellectual deficit with marfanoid habitus 21 49
x-linked mental retardation with marfanoid habitus 21 49
xlmr with marfanoid features 21
xlmr with marfanoid habitus 49
lujan fryns syndrome 61
li-fraumeni syndrome 61
lfs 21


External Ids:

ICD10 via Orphanet26 Q87.8

Related Diseases for Lujan Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to lujan syndrome

Clinical Features for Lujan Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

309520,300676

Clinical synopsis from OMIM:

309520

Symptoms:

49 (show all 33)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • 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
  • micrognathia/retrognathia/micrognathism/retrognathism
  • short hand/brachydactyly
  • hyperextensible joints/articular hyperlaxity
  • x-linked recessive inheritance
  • hyperactivity/attention deficit
  • atrial septal defect/interauricular communication
  • prominent/bat ears
  • psychosis/schizophrenia/maniac disorder
  • high nasal bridge
  • short philtrum
  • narrow face
  • long hand/arachnodactyly
  • tall stature/gigantism/growth acceleration
  • marfanoid morphotype
  • high forehead
  • camptodactyly of some fingers

Drugs & Therapeutics for Lujan Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Sources:
20GeneTests
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Genetic tests related to Lujan Syndrome:

id Genetic test Affiliating Genes
1 Lujan Syndrome20 MED12

Anatomical Context for Lujan Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Lujan Syndrome:

33
Brain, Heart

Animal Models for Lujan Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Lujan Syndrome

Sources:
51PubMed
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Articles related to Lujan Syndrome:

(show all 14)
idTitleAuthorsYear
1
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. (23338167)
2013
2
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. (17369503)
2007
3
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. (16760741)
2006
4
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). (16831221)
2006
5
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. (17103446)
2006
6
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. (17036352)
2006
7
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. (16094260)
2005
8
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. (12784307)
2003
9
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. (11807907)
2002
10
Aortic root dilation in apparent Lujan-Fryns syndrome. (10508979)
1999
11
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. (8723050)
1996
12
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. (8267926)
1993
13
Lujan syndrome in a Mexican boy. (1605262)
1992
14
A girl with the Lujan-Fryns syndrome. (2018074)
1991

Genetic Variations for Lujan Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Lujan Syndrome:

63
id Symbol AA change Variation SNP ID
1MED12p.Asn1007SerVAR_037534

Expression for genes affiliated with Lujan Syndrome

Sources:
1BioGPS, 15Gene 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

Compounds for genes affiliated with Lujan Syndrome

GO Terms for genes affiliated with Lujan Syndrome

Sources:
16Gene Ontology
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Biological processes related to Lujan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neural tube closureGO:0018439.4MED12, OPA1

Products for genes affiliated with Lujan Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lujan Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet