LFS
MCID: LJN002
MIFTS: 36

Lujan Syndrome (LFS) malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases categories
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Summaries for Lujan Syndrome

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Genetics Home Reference:21 Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.

MalaCards based summary: Lujan Syndrome, also known as lujan-fryns syndrome, is related to schizophrenia and lujan fryns syndrome, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, high forehead and micrognathia/retrognathia/micrognathism/retrognathism. An important gene associated with Lujan Syndrome is MED12 (mediator complex subunit 12), and among its related pathways is Gene Expression. Affiliated tissues include bone.

Descriptions from OMIM:46 300676,309520

Aliases & Classifications for Lujan Syndrome

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Sources:
21Genetics Home Reference, 62UMLS, 20GeneTests, 48Orphanet, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Lujan Syndrome, Aliases & Descriptions:

Name: Lujan Syndrome 20 21 48
Lujan-Fryns Syndrome 21 46 48
X-Linked Intellectual Disability with Marfanoid Habitus 48 46
X-Linked Mental Retardation with Marfanoid Habitus 21 48
Lfs 21 62
 
X-Linked Intellectual Deficit with Marfanoid Habitus 21
Xlmr with Marfanoid Features 21
Xlmr with Marfanoid Habitus 48
Lujan Fryns Syndrome 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
lujan-fryns syndrome:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0796022

Related Diseases for Lujan Syndrome

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Diseases related to Lujan Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1schizophrenia30.8MED12
2lujan fryns syndrome10.9
3fryns syndrome10.9
4mental retardation10.6
5li-fraumeni syndrome10.5
6fg syndrome10.3
7eating disorder10.3
8mental retardation, x-linked10.3
9brain edema10.3
10lassa fever10.2
11arthritis10.0
12intrahepatic cholestasis10.0
13common cold10.0
14cerebritis10.0
15adrenocortical carcinoma10.0
16breast cancer10.0
17cholestasis10.0
18filariasis10.0
19ischemia10.0
20blindness10.0
21intellectual disability multi-gene panels9.7UPF3B, MED12

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



Diseases related to lujan syndrome

Symptoms for Lujan Syndrome

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Symptoms by clinical synopsis from OMIM:

300676

Clinical features from OMIM:

300676,309520

Symptoms:

48 (show all 33)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • high forehead
  • micrognathia/retrognathia/micrognathism/retrognathism
  • high vaulted/narrow palate
  • scoliosis
  • abnormal cry/voice/phonation disorder/nasal speech
  • hypotonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/behavioural troubles
  • x-linked recessive inheritance
  • tall stature/gigantism/growth acceleration
  • marfanoid morphotype
  • narrow face
  • flat cheek bones/malar hypoplasia
  • high nasal bridge
  • short philtrum
  • pectus excavatum
  • long hand/arachnodactyly
  • atrial septal defect/interauricular communication
  • macroorchidism/macrotestes
  • corpus callosum/septum pellucidum total/partial agenesis
  • hyperactivity/attention deficit
  • hyperextensible joints/articular hyperlaxity
  • brachycephaly/flat occiput
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • low set ears/posteriorly rotated ears
  • prominent/bat ears
  • short hand/brachydactyly
  • camptodactyly of some fingers
  • seizures/epilepsy/absences/spasms/status epilepticus
  • delirium/hallucination
  • psychosis/schizophrenia/maniac disorder

HPO human phenotypes related to Lujan Syndrome:

(show all 93)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 macrocephaly hallmark (90%) HP:0000256
3 micrognathia hallmark (90%) HP:0000347
4 high forehead hallmark (90%) HP:0000348
5 muscular hypotonia hallmark (90%) HP:0001252
6 disproportionate tall stature hallmark (90%) HP:0001519
7 abnormality of the voice hallmark (90%) HP:0001608
8 neurological speech impairment hallmark (90%) HP:0002167
9 scoliosis hallmark (90%) HP:0002650
10 cognitive impairment hallmark (90%) HP:0100543
11 macroorchidism typical (50%) HP:0000053
12 narrow face typical (50%) HP:0000275
13 short philtrum typical (50%) HP:0000322
14 prominent nasal bridge typical (50%) HP:0000426
15 pectus excavatum typical (50%) HP:0000767
16 arachnodactyly typical (50%) HP:0001166
17 joint hypermobility typical (50%) HP:0001382
18 defect in the atrial septum typical (50%) HP:0001631
19 attention deficit hyperactivity disorder typical (50%) HP:0007018
20 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
21 cheekbone underdevelopment typical (50%) HP:0010669
22 abnormality of the teeth occasional (7.5%) HP:0000164
23 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
24 abnormality of the pinna occasional (7.5%) HP:0000377
25 hallucinations occasional (7.5%) HP:0000738
26 brachydactyly syndrome occasional (7.5%) HP:0001156
27 seizures occasional (7.5%) HP:0001250
28 abnormality of calvarial morphology occasional (7.5%) HP:0002648
29 camptodactyly of finger occasional (7.5%) HP:0100490
30 high palate HP:0000218
31 macrocephaly HP:0000256
32 narrow face HP:0000275
33 long face HP:0000276
34 mandibular prognathia HP:0000303
35 hypoplasia of the maxilla HP:0000327
36 prominent nasal bridge HP:0000426
37 pectus excavatum HP:0000767
38 pectus carinatum HP:0000768
39 narrow chest HP:0000774
40 arachnodactyly HP:0001166
41 intellectual disability HP:0001249
42 x-linked recessive inheritance HP:0001419
43 growth abnormality HP:0001507
44 nasal speech HP:0001611
45 long foot HP:0001833
46 frontal bossing HP:0002007
47 scoliosis HP:0002650
48 kyphosis HP:0002808
49 abnormality of the musculature HP:0003011
50 prominent forehead HP:0011220
51 abnormality of the genitourinary system HP:0000119
52 open mouth HP:0000194
53 high palate HP:0000218
54 thin upper lip vermilion HP:0000219
55 macrocephaly HP:0000256
56 narrow face HP:0000275
57 long face HP:0000276
58 short philtrum HP:0000322
59 hypoplasia of the maxilla HP:0000327
60 micrognathia HP:0000347
61 low-set ears HP:0000369
62 prominent nasal bridge HP:0000426
63 narrow nasal bridge HP:0000446
64 dental crowding HP:0000678
65 psychosis HP:0000709
66 emotional lability HP:0000712
67 autism HP:0000717
68 aggressive behavior HP:0000718
69 obsessive-compulsive behavior HP:0000722
70 impaired social interactions HP:0000735
71 low frustration tolerance HP:0000744
72 hyperactivity HP:0000752
73 pectus excavatum HP:0000767
74 arachnodactyly HP:0001166
75 intellectual disability HP:0001249
76 seizures HP:0001250
77 agenesis of corpus callosum HP:0001274
78 generalized hypotonia HP:0001290
79 flexion contracture HP:0001371
80 joint laxity HP:0001388
81 x-linked recessive inheritance HP:0001419
82 disproportionate tall stature HP:0001519
83 abnormality of the rib cage HP:0001547
84 nasal speech HP:0001611
85 ventricular septal defect HP:0001629
86 defect in the atrial septum HP:0001631
87 deep philtrum HP:0002002
88 frontal bossing HP:0002007
89 ascending aortic aneurysm HP:0002631
90 long nose HP:0003189
91 abnormally folded helix HP:0008544
92 prominent forehead HP:0011220
93 broad thumb HP:0011304

Drugs & Therapeutics for Lujan Syndrome

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Drug clinical trials:

Search ClinicalTrials for Lujan Syndrome

Search NIH Clinical Center for Lujan Syndrome

Genetic Tests for Lujan Syndrome

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Genetic tests related to Lujan Syndrome:

id Genetic test Affiliating Genes
1 Lujan Syndrome20 MED12

Anatomical Context for Lujan Syndrome

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MalaCards organs/tissues related to Lujan Syndrome:

32
Bone

Animal Models for Lujan Syndrome or affiliated genes

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Publications for Lujan Syndrome

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Articles related to Lujan Syndrome:

idTitleAuthorsYear
1
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. (17369503)
2007
2
Lujan syndrome in a Mexican boy. (1605262)
1992

Variations for Lujan Syndrome

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

64
id Symbol AA change Variation ID SNP ID
1MED12p.Asn1007SerVAR_037534
2UPF3Bp.Tyr160AspVAR_037666

Clinvar genetic disease variations for Lujan Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1UPF3BUPF3B, 4-BP DEL, 674GAAAdeletionPathogenic
2UPF3BUPF3B, 2-BP DEL, 867AGdeletionPathogenic
3UPF3BNM_080632.2(UPF3B): c.1288C> T (p.Arg430Ter)single nucleotide variantPathogenicrs122468181GRCh37Chr X, 118971734: 118971734
4UPF3BNM_080632.2(UPF3B): c.478T> G (p.Tyr160Asp)single nucleotide variantPathogenicrs122468182GRCh37Chr X, 118977256: 118977256
5MED12NM_005120.2(MED12): c.3020A> G (p.Asn1007Ser)single nucleotide variantPathogenicrs80338759GRCh37Chr X, 70347781: 70347781

Expression for genes affiliated with Lujan Syndrome

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Expression patterns in normal tissues for genes affiliated with Lujan Syndrome

Search GEO for disease gene expression data for Lujan Syndrome.

Pathways for genes affiliated with Lujan Syndrome

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Pathways related to Lujan Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0UPF3B, MED12

Compounds for genes affiliated with Lujan Syndrome

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GO Terms for genes affiliated with Lujan Syndrome

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Cellular components related to Lujan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056549.0UPF3B, MED12

Biological processes related to Lujan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gene expressionGO:0104679.0UPF3B, MED12

Products for genes affiliated with Lujan Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Lujan 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