Lujan Syndrome (LFS) malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases categories

Summaries for Lujan Syndrome

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Genetics Home Reference:22 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 abnormality of the palate, macrocephaly and micrognathia. 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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21GeneTests, 22Genetics Home Reference, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet
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Lujan Syndrome, Aliases & Descriptions:

Name: Lujan Syndrome 21 22 48
Lujan-Fryns Syndrome 22 46 48
X-Linked Intellectual Disability with Marfanoid Habitus 48 46
X-Linked Mental Retardation with Marfanoid Habitus 22 48
Lfs 22 61
X-Linked Intellectual Deficit with Marfanoid Habitus 22
Xlmr with Marfanoid Features 22
Xlmr with Marfanoid Habitus 48
Lujan Fryns Syndrome 61


Characteristics (Orphanet epidemiological data):

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

External Ids:

ICD10 via Orphanet27 Q87.8
UMLS via Orphanet62 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
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
12intrahepatic cholestasis10.0
13common cold10.0
15adrenocortical carcinoma10.0
16breast cancer10.0
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:


Clinical features from OMIM:



 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 80)
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 thin upper lip vermilion HP:0000219
54 short philtrum HP:0000322
55 micrognathia HP:0000347
56 low-set ears HP:0000369
57 narrow nasal bridge HP:0000446
58 dental crowding HP:0000678
59 psychosis HP:0000709
60 emotional lability HP:0000712
61 autism HP:0000717
62 aggressive behavior HP:0000718
63 obsessive-compulsive behavior HP:0000722
64 impaired social interactions HP:0000735
65 low frustration tolerance HP:0000744
66 hyperactivity HP:0000752
67 seizures HP:0001250
68 agenesis of corpus callosum HP:0001274
69 generalized hypotonia HP:0001290
70 flexion contracture HP:0001371
71 joint laxity HP:0001388
72 disproportionate tall stature HP:0001519
73 abnormality of the rib cage HP:0001547
74 ventricular septal defect HP:0001629
75 defect in the atrial septum HP:0001631
76 deep philtrum HP:0002002
77 ascending aortic aneurysm HP:0002631
78 long nose HP:0003189
79 abnormally folded helix HP:0008544
80 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 Syndrome21 MED12

Anatomical Context for Lujan Syndrome

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MalaCards organs/tissues related to Lujan Syndrome:


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:

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

Variations for Lujan Syndrome

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Lujan Syndrome:

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
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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lujan Syndrome

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27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet