MCID: LJN001
MIFTS: 21

Lujan Fryns Syndrome malady

Rare diseases, Neuronal diseases, Reproductive diseases, Mental diseases categories
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Summaries for Lujan Fryns Syndrome

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MalaCards based summary: 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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Lujan Fryns Syndrome, Aliases & Descriptions:

Name: Lujan Fryns Syndrome 42 62
Mental Retardation, X-Linked, with Marfanoid Habitus 42 22
 
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size and Distinct Craniofacial Anomalies 42


Classifications:



Related Diseases for Lujan Fryns Syndrome

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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 syndrome10.9
2lujan syndrome10.6
3mental retardation10.6
4schizophrenia10.3
5fg syndrome10.3
6eating disorder10.3
7mental retardation, x-linked10.3

Graphical network of diseases related to Lujan Fryns Syndrome:



Diseases related to lujan fryns syndrome

Symptoms for Lujan Fryns Syndrome

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Drugs & Therapeutics for Lujan Fryns Syndrome

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Drug clinical trials:

Search ClinicalTrials for Lujan Fryns Syndrome

Search NIH Clinical Center for Lujan Fryns Syndrome

Genetic Tests for Lujan Fryns Syndrome

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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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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

Variations for Lujan Fryns Syndrome

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Clinvar genetic disease variations for Lujan Fryns Syndrome:

6
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 Fryns Syndrome

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet