MCID: LJN001
MIFTS: 20

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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33MalaCards
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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.

Aliases & Classifications for Lujan Fryns Syndrome

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43NIH Rare Diseases, 62UMLS, 22GTR
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Classifications:



Aliases & Descriptions:

lujan fryns syndrome 43 62
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

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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 syndrome10.9
2lujan syndrome10.7
3mental retardation10.6
4focal segmental glomerulosclerosis10.3
5eating disorder10.3
6schizophrenia10.3
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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42NIH Clinical Center, 6ClinicalTrials
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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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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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52PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Lujan Fryns Syndrome:

1
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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15Gene Expression Omnibus DataSets
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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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet