MCID: LJN001
MIFTS: 18

Lujan Fryns Syndrome malady

Neuronal, Reproductive categories

Summaries for Lujan Fryns Syndrome

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33MalaCards
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MalaCards: Lujan Fryns Syndrome, also known as mental retardation, x-linked, with marfanoid habitus, is related to lujan syndrome and fryns syndrome. An important gene associated with Lujan Fryns Syndrome is MED12 (mediator complex subunit 12).

Aliases & Classifications for Lujan Fryns Syndrome

Sources:
43NIH Rare Diseases, 22GTR, 61UMLS
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Classifications:

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


Aliases & Descriptions:

lujan fryns syndrome 43 61
mental retardation, x-linked, with marfanoid habitus 43 22
marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies 43


Related Diseases for Lujan Fryns Syndrome

Sources:
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
1lujan syndrome10.9
2fryns syndrome10.8
3marfan syndrome10.6
4mental retardation10.5
5n syndrome10.5
6fg syndrome10.3

Graphical network of diseases related to Lujan Fryns Syndrome:



Diseases related to lujan fryns syndrome

Clinical Features for Lujan Fryns Syndrome

Drugs & Therapeutics for Lujan Fryns Syndrome

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

Search CenterWatch for Lujan Fryns Syndrome

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

Sources:
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

Animal Models for Lujan Fryns Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Lujan Fryns Syndrome

Sources:
51PubMed
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Articles related to Lujan Fryns Syndrome:

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

Genetic Variations for Lujan Fryns Syndrome

Expression for genes affiliated with Lujan Fryns Syndrome

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

Compounds for genes affiliated with Lujan Fryns Syndrome

GO Terms for genes affiliated with Lujan Fryns Syndrome

Products for genes affiliated with Lujan Fryns Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lujan Fryns 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