LFS
MCID: LJN002
MIFTS: 36

Lujan Syndrome (LFS) malady

Neuronal diseases, Fetal diseases categories

Summaries for Lujan Syndrome

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 fryns syndrome and sarcoma, and has symptoms including brachycephaly/flat occiput, hyperextensible joints/articular hyperlaxity and hyperactivity/attention deficit. An important gene associated with Lujan Syndrome is MED12 (mediator complex subunit 12). Affiliated tissues include heart, brain and bone.

Wikipedia:63 Lujan–Fryns syndrome (LFS), also referred to as X-linked mental retardation with Marfanoid habitus and... more...

Description from OMIM:46 309520,300676

Aliases & Classifications for Lujan Syndrome

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Sources:
20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
lujan-fryns syndrome:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

lujan syndrome 20 21 48
lujan-fryns syndrome 21 46 48
x-linked intellectual deficit with marfanoid habitus 21 48
x-linked mental retardation with marfanoid habitus 21 48
xlmr with marfanoid features 21
xlmr with marfanoid habitus 48
lujan fryns syndrome 60
li-fraumeni syndrome 60
lfs 21


External Ids:

SNOMED-CT via Orphanet57 422437002
ICD10 via Orphanet26 Q87.8

Related Diseases for Lujan Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Lujan Syndrome:



Diseases related to lujan syndrome

Clinical Features for Lujan Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

309520,300676

Clinical synopsis from OMIM:

309520

Symptoms:

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

Drugs & Therapeutics for Lujan Syndrome

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Sources:
5CenterWatch, 41NIH 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

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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

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32MalaCards
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MalaCards organs/tissues related to Lujan Syndrome:

32
Heart, Brain, Bone

Animal Models for Lujan Syndrome or affiliated genes

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Publications for Lujan Syndrome

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Genetic Variations for Lujan Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Lujan Syndrome:

62
id Symbol AA change Variation ID SNP ID
1MED12p.Asn1007SerVAR_037534

Expression for genes affiliated with Lujan Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lujan Syndrome

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Pathways for genes affiliated with Lujan Syndrome

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Compounds for genes affiliated with Lujan Syndrome

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GO Terms for genes affiliated with Lujan Syndrome

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lujan Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet