MCID: LJN003
MIFTS: 32

Lujan-Fryns Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Mental diseases categories

Aliases & Classifications for Lujan-Fryns Syndrome

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Aliases & Descriptions for Lujan-Fryns Syndrome:

Name: Lujan-Fryns Syndrome 49 11 67
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size and Distinct Craniofacial Anomalies 45
Mental Retardation, X-Linked, with Marfanoid Habitus 45
X-Linked Mental Retardation with Marfanoid Habitus 67
 
Li-Fraumeni Syndrome 65
Lujan Fryns Syndrome 45
Lujfrys 67


Classifications:



External Ids:

OMIM49 309520
MedGen34 C0796022

Summaries for Lujan-Fryns Syndrome

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NIH Rare Diseases:45 Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, poor muscular tonus (hypotonia) and certain physical features like a tall and thin body and a large head (macrocephaly) with a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip (philtrum), narrow roof of the mouth (palate), crowded teeth and a small chin (micrognathia). most of the cases occur in males. it is caused by an alteration (mutation ) in the med12 gene. the med12 gene mutation changes a single protein building block (amino acids ) in the med12 protein which helps regulate gene activity and is involved in many aspects of early development. however, it is unclear how the mutation affects development and leads to the cognitive and physical features of lujan syndrome. treatment includes early individualized education; physical therapy, occupational therapy, and speech therapy for developmental delays; routine management of behavior problems, seizures, and other problems that may exist. the lujan syndrome and the fg syndrome type 1 (fgs1) are the main conditions of a group of disorders known as med12-related disorders because they are all caused by mutations in the same gene. last updated: 10/15/2015

MalaCards based summary: Lujan-Fryns Syndrome, also known as marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies, is related to fryns syndrome and lujan syndrome, and has symptoms including abnormality of the genitourinary system, open mouth and high palate. An important gene associated with Lujan-Fryns Syndrome is MED12 (Mediator Complex Subunit 12), and among its related pathways is Thyroid hormone signaling pathway. Related mouse phenotype limbs/digits/tail.

UniProtKB/Swiss-Prot:67 Lujan-Fryns syndrome: Clinically, Lujan-Fryns syndrome can be distinguished from Opitz- Kaveggia syndrome by tall stature, hypernasal voice, hyperextensible digits and high nasal root.

Description from OMIM:49 309520

Related Diseases for Lujan-Fryns Syndrome

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Diseases related to Lujan-Fryns Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1fryns syndrome10.9
2lujan syndrome10.5
3schizophrenia10.4
4opitz-kaveggia syndrome10.4
5eating disorder10.4
6ohdo syndrome, x-linked9.8MED12, TP53
7breast carcinoma in situ9.8MED12, TP53
8cell type cancer9.8MED12, TP53
9thoracic cancer9.8MED12, TP53
10connective tissue disease9.7MED12, TP53

Graphical network of diseases related to Lujan-Fryns Syndrome:



Diseases related to lujan-fryns syndrome

Symptoms for Lujan-Fryns Syndrome

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Symptoms by clinical synopsis from OMIM:

309520

Clinical features from OMIM:

309520

HPO human phenotypes related to Lujan-Fryns Syndrome:

(show all 43)
id Description Frequency HPO Source Accession
1 abnormality of the genitourinary system HP:0000119
2 open mouth HP:0000194
3 high palate HP:0000218
4 thin upper lip vermilion HP:0000219
5 macrocephaly HP:0000256
6 narrow face HP:0000275
7 long face HP:0000276
8 short philtrum HP:0000322
9 hypoplasia of the maxilla HP:0000327
10 micrognathia HP:0000347
11 low-set ears HP:0000369
12 prominent nasal bridge HP:0000426
13 narrow nasal bridge HP:0000446
14 dental crowding HP:0000678
15 psychosis HP:0000709
16 emotional lability HP:0000712
17 autism HP:0000717
18 aggressive behavior HP:0000718
19 obsessive-compulsive behavior HP:0000722
20 impaired social interactions HP:0000735
21 low frustration tolerance HP:0000744
22 hyperactivity HP:0000752
23 pectus excavatum HP:0000767
24 arachnodactyly HP:0001166
25 intellectual disability HP:0001249
26 seizures HP:0001250
27 agenesis of corpus callosum HP:0001274
28 generalized hypotonia HP:0001290
29 flexion contracture HP:0001371
30 joint laxity HP:0001388
31 x-linked recessive inheritance HP:0001419
32 disproportionate tall stature HP:0001519
33 abnormality of the rib cage HP:0001547
34 nasal speech HP:0001611
35 ventricular septal defect HP:0001629
36 atria septal defect HP:0001631
37 deep philtrum HP:0002002
38 frontal bossing HP:0002007
39 ascending aortic aneurysm HP:0002631
40 long nose HP:0003189
41 abnormally folded helix HP:0008544
42 prominent forehead HP:0011220
43 broad thumb HP:0011304

Drugs & Therapeutics for Lujan-Fryns Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Lujan-Fryns Syndrome

Genetic Tests for Lujan-Fryns Syndrome

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Anatomical Context for Lujan-Fryns Syndrome

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Animal Models for Lujan-Fryns Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Lujan-Fryns Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1MED12, TP53

Publications for Lujan-Fryns Syndrome

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Articles related to Lujan-Fryns Syndrome:

(show all 13)
idTitleAuthorsYear
1
Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? (26358559)
2015
2
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. (23338167)
2013
3
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. (16760741)
2006
4
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). (16831221)
2006
5
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. (17103446)
2006
6
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. (17036352)
2006
7
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. (16094260)
2005
8
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. (12784307)
2003
9
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. (11807907)
2002
10
Aortic root dilation in apparent Lujan-Fryns syndrome. (10508979)
1999
11
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. (8723050)
1996
12
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. (8267926)
1993
13
A girl with the Lujan-Fryns syndrome. (2018074)
1991

Variations for Lujan-Fryns Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Lujan-Fryns Syndrome:

67
id Symbol AA change Variation ID SNP ID
1MED12p.Asn1007SerVAR_037534

Clinvar genetic disease variations for Lujan-Fryns Syndrome:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1MED12NM_005120.2(MED12): c.3020A> G (p.Asn1007Ser)single nucleotide variantPathogenicrs80338759GRCh37Chr X, 70347781: 70347781
2TP53NM_000546.5(TP53): c.742C> T (p.Arg248Trp)single nucleotide variantLikely pathogenic, Pathogenicrs121912651GRCh37Chr 17, 7577539: 7577539
3TP53NM_000546.5(TP53): c.743G> A (p.Arg248Gln)single nucleotide variantPathogenicrs11540652GRCh37Chr 17, 7577538: 7577538
4TP53NM_000546.5(TP53): c.844C> T (p.Arg282Trp)single nucleotide variantPathogenicrs28934574GRCh37Chr 17, 7577094: 7577094
5TP53NM_000546.5(TP53): c.733G> A (p.Gly245Ser)single nucleotide variantLikely pathogenic, Pathogenicrs28934575GRCh37Chr 17, 7577548: 7577548
6TP53NM_000546.5(TP53): c.1010G> A (p.Arg337His)single nucleotide variantPathogenicrs121912664GRCh37Chr 17, 7574017: 7574017
7TP53NM_000546.5(TP53): c.701A> G (p.Tyr234Cys)single nucleotide variantLikely pathogenic, Pathogenicrs587780073GRCh37Chr 17, 7577580: 7577580
8TP53NM_000546.5(TP53): c.869G> A (p.Arg290His)single nucleotide variantPathogenicrs55819519GRCh37Chr 17, 7577069: 7577069
9TP53NM_000546.5(TP53): c.638G> A (p.Arg213Gln)single nucleotide variantPathogenicrs587778720GRCh38Chr 17, 7674893: 7674893
10TP53NM_000546.5(TP53): c.542G> A (p.Arg181His)single nucleotide variantLikely pathogenic, Pathogenicrs397514495GRCh38Chr 17, 7675070: 7675070
11TP53NM_000546.5(TP53): c.455C> T (p.Pro152Leu)single nucleotide variantPathogenicrs587782705GRCh37Chr 17, 7578475: 7578475
12TP53NM_000546.5(TP53): c.709A> G (p.Met237Val)single nucleotide variantPathogenicrs730882004GRCh38Chr 17, 7674254: 7674254
13MED12NM_005120.2(MED12): c.1849A> G (p.Thr617Ala)single nucleotide variantLikely pathogenicrs765417606GRCh37Chr X, 70344113: 70344113
14TP53NM_000546.5(TP53): c.584T> C (p.Ile195Thr)single nucleotide variantPathogenicrs760043106GRCh38Chr 17, 7674947: 7674947
15TP53NM_000546.5(TP53): c.672+1G> Asingle nucleotide variantPathogenicGRCh38Chr 17, 7674858: 7674858
16TP53NM_000546.5(TP53): c.973G> T (p.Gly325Ter)single nucleotide variantPathogenicGRCh37Chr 17, 7576873: 7576873
17TP53NM_000546.5(TP53): c.637C> T (p.Arg213Ter)single nucleotide variantPathogenicrs397516436GRCh37Chr 17, 7578212: 7578212

Expression for genes affiliated with Lujan-Fryns Syndrome

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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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Pathways related to Lujan-Fryns Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1MED12, TP53

GO Terms for genes affiliated with Lujan-Fryns Syndrome

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Cellular components related to Lujan-Fryns Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:00057309.1MED12, TP53

Biological processes related to Lujan-Fryns Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription initiation from RNA polymerase II promoterGO:00063679.5MED12, TP53
2positive regulation of transcription, DNA-templatedGO:00458939.3MED12, TP53
3regulation of transcription from RNA polymerase II promoterGO:00063579.1MED12, TP53
4gene expressionGO:00104678.8MED12, TP53

Molecular functions related to Lujan-Fryns Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00036829.1MED12, TP53
2transcription factor bindingGO:00081349.0MED12, TP53

Sources for Lujan-Fryns Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet