MCID: LJN001
MIFTS: 15

Lujan Fryns Syndrome malady

Neuronal diseases, Reproductive diseases categories

Summaries for Lujan Fryns Syndrome

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32MalaCards
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MalaCards: Lujan Fryns Syndrome, also known as mental retardation, x-linked, with marfanoid habitus, is related to fryns syndrome and lujan syndrome. An important gene associated with Lujan Fryns Syndrome is MED12 (mediator complex subunit 12).

Aliases & Classifications for Lujan Fryns Syndrome

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Sources:
42NIH Rare Diseases, 60UMLS, 22GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Reproductive diseases


Aliases & Descriptions:

lujan fryns syndrome 42 60
mental retardation, x-linked, with marfanoid habitus 42 22
marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies 42


Related Diseases for Lujan Fryns Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Lujan Fryns Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1fryns syndrome10.8
2lujan syndrome10.6
3fg syndrome10.3
4eating disorder10.3
5schizophrenia10.3

Graphical network of diseases related to Lujan Fryns Syndrome:



Diseases related to lujan fryns syndrome

Clinical Features for Lujan Fryns Syndrome

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Drugs & Therapeutics for Lujan Fryns Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Lujan Fryns Syndrome

Search CenterWatch for Lujan Fryns Syndrome

Genetic Tests for Lujan Fryns Syndrome

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22GTR
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Genetic tests related to Lujan Fryns Syndrome:

id Genetic test Affiliating Genes
1 X-Linked Mental Retardation with Marfanoid Habitus Syndrome22

Anatomical Context for Lujan Fryns Syndrome

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Animal Models for Lujan Fryns Syndrome or affiliated genes

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Publications for Lujan Fryns Syndrome

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Genetic Variations for Lujan Fryns Syndrome

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Expression for genes affiliated with Lujan Fryns 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 Fryns Syndrome

Search GEO for disease gene expression data for Lujan Fryns Syndrome.

Pathways for genes affiliated with Lujan Fryns Syndrome

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Compounds for genes affiliated with Lujan Fryns Syndrome

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GO Terms for genes affiliated with Lujan Fryns Syndrome

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Products for genes affiliated with Lujan Fryns Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lujan Fryns 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