MCID: LJN002
MIFTS: 16

Lujan Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Reproductive diseases, Mental diseases

Aliases & Classifications for Lujan Syndrome

MalaCards integrated aliases for Lujan Syndrome:

Name: Lujan Syndrome 50 24 25
Lujan-Fryns Syndrome 24 25
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size and Distinct Craniofacial Anomalies 50
Mental Retardation, X-Linked, with Marfanoid Habitus 24
X-Linked Intellectual Deficit with Marfanoid Habitus 25
X-Linked Mental Retardation with Marfanoid Habitus 25
Xlmr with Marfanoid Features 25
Lfs 25

Classifications:



Summaries for Lujan Syndrome

NIH Rare Diseases : 50 lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). most of the cases occur in males. lujan syndrome is caused by changes (mutations) in the med12 gene and is inherited in an x-linked manner. treatment is based on the signs and symptoms present in each person and may include special education; physical therapy, occupational therapy, and speech therapy for developmental delays; and medications to control seizures. last updated: 11/10/2015

MalaCards based summary : Lujan Syndrome, also known as lujan-fryns syndrome, is related to li-fraumeni syndrome and lujan-fryns syndrome. An important gene associated with Lujan Syndrome is MED12 (Mediator Complex Subunit 12). Affiliated tissues include ovary.

Genetics Home Reference : 25 Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males.

Related Diseases for Lujan Syndrome

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

id Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 12.0
2 lujan-fryns syndrome 10.9

Symptoms & Phenotypes for Lujan Syndrome

Drugs & Therapeutics for Lujan Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Ultrasound Characterization of Ovarian Morphology During Weight Loss in Women With Polycystic Ovary Syndrome (PCOS) Completed NCT01785719
2 Nutritional and Metabolic Correlates of Ovarian Morphology in Women With Polycystic Ovary Syndrome Recruiting NCT01927471
3 Comparison of Lifestyle Markers Between Women With and Without Polycystic Ovary Syndrome Recruiting NCT01859663
4 Effectiveness Monitoring of Home Non-invasive Mechanical Ventilation by Digital Diagnosis Platform Recruiting NCT03085537
5 Ultrasound Characterization of Ovarian Follicle Dynamics in Women With Amenorrhea Recruiting NCT01927432
6 Ultrasonographic Evaluation of Anovulatory Disorders in Lean and Overweight Women Recruiting NCT03306849

Search NIH Clinical Center for Lujan Syndrome

Genetic Tests for Lujan Syndrome

Genetic tests related to Lujan Syndrome:

id Genetic test Affiliating Genes
1 Lujan Syndrome 24 MED12

Anatomical Context for Lujan Syndrome

MalaCards organs/tissues related to Lujan Syndrome:

39
Ovary

Publications for Lujan Syndrome

Articles related to Lujan Syndrome:

id Title Authors Year
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

ClinVar genetic disease variations for Lujan Syndrome:

6
id 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

Expression for Lujan Syndrome

Search GEO for disease gene expression data for Lujan Syndrome.

Pathways for Lujan Syndrome

GO Terms for Lujan Syndrome

Sources for Lujan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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