LUJFRYS
MCID: LJN003
MIFTS: 32

Lujan-Fryns Syndrome (LUJFRYS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Lujan-Fryns Syndrome

MalaCards integrated aliases for Lujan-Fryns Syndrome:

Name: Lujan-Fryns Syndrome 57 75 37 13 40
Mental Retardation, X-Linked, with Marfanoid Habitus 57
X-Linked Mental Retardation with Marfanoid Habitus 75
Mental Retardation, X Linked, Marfanoid Habitus 76
Lujanfryns Syndrome 76
Lujfrys 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
allelic disorder to opitz-kaveggia syndrome


HPO:

32
lujan-fryns syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Lujan-Fryns Syndrome

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Lujan-Fryns Syndrome, also known as mental retardation, x-linked, with marfanoid habitus, is related to fryns syndrome and syndromic x-linked intellectual disability 14. An important gene associated with Lujan-Fryns Syndrome is MED12 (Mediator Complex Subunit 12), and among its related pathways/superpathways is Thyroid hormone signaling pathway. Affiliated tissues include brain, heart and testes, and related phenotypes are macrocephaly and low-set ears

Wikipedia : 76 Lujan´┐Ż??Fryns syndrome (LFS), also referred to as X-linked mental retardation with Marfanoid habitus and... more...

Description from OMIM: 309520

Related Diseases for Lujan-Fryns Syndrome

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

# Related Disease Score Top Affiliating Genes
1 fryns syndrome 30.6 MED12 UPF3B ZDHHC9
2 syndromic x-linked intellectual disability 14 11.8
3 lujan syndrome 11.4
4 schizophrenia 10.3
5 autism x-linked 2 10.3
6 eating disorder 10.3
7 dysphagia 10.3
8 x-linked non-specific intellectual disability 9.6 MED12 UPF3B

Graphical network of the top 20 diseases related to Lujan-Fryns Syndrome:



Diseases related to Lujan-Fryns Syndrome

Symptoms & Phenotypes for Lujan-Fryns Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Chest External Features:
pectus excavatum

Head And Neck Face:
prominent forehead
micrognathia
short philtrum
narrow face
long face
more
Skeletal:
joint laxity
joint contractures

Head And Neck Mouth:
open mouth
high-arched palate
thin upper lip

Growth Height:
tall stature

Skeletal Skull:
small mandible

Head And Neck Teeth:
crowded teeth
double row of teeth

Genitourinary Internal Genitalia Male:
borderline to large testes

Head And Neck Ears:
low-set ears
abnormally folded helix

Neurologic Central Nervous System:
seizures
agenesis of the corpus callosum
mental retardation, mild to moderate
hypotonia, generalized

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Neurologic Behavioral Psychiatric Manifestations:
psychosis
aggressive behavior
hyperactivity
low frustration tolerance
emotional instability
more
Head And Neck Nose:
narrow nasal bridge
long nose
high nasal bridge

Skeletal Hands:
long fingers
broad thumbs
thin fingers

Growth Other:
marfanoid habitus

Cardiovascular Vascular:
ascending aortic aneurysm

Voice:
hypernasal voice


Clinical features from OMIM:

309520

Human phenotypes related to Lujan-Fryns Syndrome:

32 (show all 42)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 low-set ears 32 HP:0000369
3 pectus excavatum 32 HP:0000767
4 agenesis of corpus callosum 32 HP:0001274
5 frontal bossing 32 HP:0002007
6 high palate 32 HP:0000218
7 emotional lability 32 HP:0000712
8 intellectual disability 32 HP:0001249
9 seizures 32 HP:0001250
10 broad thumb 32 HP:0011304
11 flexion contracture 32 HP:0001371
12 prominent forehead 32 HP:0011220
13 micrognathia 32 HP:0000347
14 autism 32 HP:0000717
15 atrial septal defect 32 HP:0001631
16 joint laxity 32 HP:0001388
17 prominent nasal bridge 32 HP:0000426
18 short philtrum 32 HP:0000322
19 psychosis 32 HP:0000709
20 impaired social interactions 32 HP:0000735
21 hypoplasia of the maxilla 32 HP:0000327
22 aggressive behavior 32 HP:0000718
23 arachnodactyly 32 HP:0001166
24 disproportionate tall stature 32 HP:0001519
25 narrow face 32 HP:0000275
26 dental crowding 32 HP:0000678
27 open mouth 32 HP:0000194
28 long face 32 HP:0000276
29 nasal speech 32 HP:0001611
30 ventricular septal defect 32 HP:0001629
31 thin upper lip vermilion 32 HP:0000219
32 obsessive-compulsive behavior 32 HP:0000722
33 deep philtrum 32 HP:0002002
34 narrow nasal bridge 32 HP:0000446
35 long nose 32 HP:0003189
36 generalized hypotonia 32 HP:0001290
37 hyperactivity 32 HP:0000752
38 abnormality of the genitourinary system 32 HP:0000119
39 abnormally folded helix 32 HP:0008544
40 low frustration tolerance 32 HP:0000744
41 abnormality of the rib cage 32 HP:0001547
42 ascending tubular aorta aneurysm 32 HP:0004970

Drugs & Therapeutics for Lujan-Fryns Syndrome

Search Clinical Trials , NIH Clinical Center for Lujan-Fryns Syndrome

Genetic Tests for Lujan-Fryns Syndrome

Anatomical Context for Lujan-Fryns Syndrome

MalaCards organs/tissues related to Lujan-Fryns Syndrome:

41
Brain, Heart, Testes, Thyroid

Publications for Lujan-Fryns Syndrome

Articles related to Lujan-Fryns Syndrome:

(show all 14)
# Title Authors Year
1
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. ( 27980443 )
2016
2
Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? ( 26358559 )
2015
3
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. ( 23338167 )
2013
4
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. ( 16760741 )
2006
5
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. ( 17036352 )
2006
6
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). ( 16831221 )
2006
7
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. ( 17103446 )
2006
8
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. ( 16094260 )
2005
9
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. ( 12784307 )
2003
10
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. ( 11807907 )
2002
11
Aortic root dilation in apparent Lujan-Fryns syndrome. ( 10508979 )
1999
12
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. ( 8723050 )
1996
13
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. ( 8267926 )
1993
14
A girl with the Lujan-Fryns syndrome. ( 2018074 )
1991

Variations for Lujan-Fryns Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 MED12 p.Asn1007Ser VAR_037534 rs80338759

ClinVar genetic disease variations for Lujan-Fryns Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MED12 NM_005120.2(MED12): c.3020A> G (p.Asn1007Ser) single nucleotide variant Pathogenic rs80338759 GRCh37 Chromosome X, 70347781: 70347781
2 MED12 NM_005120.2(MED12): c.3020A> G (p.Asn1007Ser) single nucleotide variant Pathogenic rs80338759 GRCh38 Chromosome X, 71127931: 71127931
3 MED12 NM_005120.2(MED12): c.4669T> C (p.Trp1557Arg) single nucleotide variant Likely pathogenic rs794727576 GRCh37 Chromosome X, 70354258: 70354258
4 MED12 NM_005120.2(MED12): c.4669T> C (p.Trp1557Arg) single nucleotide variant Likely pathogenic rs794727576 GRCh38 Chromosome X, 71134408: 71134408
5 MED12 NM_005120.2(MED12): c.1849A> G (p.Thr617Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs765417606 GRCh37 Chromosome X, 70344113: 70344113
6 MED12 NM_005120.2(MED12): c.1849A> G (p.Thr617Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs765417606 GRCh38 Chromosome X, 71124263: 71124263
7 MED12 NM_005120.2(MED12): c.2545T> C (p.Ser849Pro) single nucleotide variant Uncertain significance rs1135401775 GRCh37 Chromosome X, 70346194: 70346194
8 MED12 NM_005120.2(MED12): c.2545T> C (p.Ser849Pro) single nucleotide variant Uncertain significance rs1135401775 GRCh38 Chromosome X, 71126344: 71126344
9 MED12 NM_005120.2(MED12): c.628G> C (p.Ala210Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 70340895: 70340895
10 MED12 NM_005120.2(MED12): c.628G> C (p.Ala210Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 71121045: 71121045

Expression for Lujan-Fryns Syndrome

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

Pathways for Lujan-Fryns Syndrome

Pathways related to Lujan-Fryns Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Thyroid hormone signaling pathway hsa04919

GO Terms for Lujan-Fryns Syndrome

Sources for Lujan-Fryns Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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