LMNS
MCID: LTR009
MIFTS: 31

Lateral Meningocele Syndrome (LMNS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Lateral Meningocele Syndrome

Aliases & Descriptions for Lateral Meningocele Syndrome:

Name: Lateral Meningocele Syndrome 54 23 50 24 25 56 66 69
Lehman Syndrome 23 50 24 25 56 66 29
Lms 50 24 25 66
Lmns 66

Characteristics:

Orphanet epidemiological data:

56
lateral meningocele syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

GeneReviews:

23
lateral meningocele syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance appears to be complete but data are limited...

Classifications:



External Ids:

OMIM 54 130720
Orphanet 56 ORPHA2789
UMLS via Orphanet 70 C0344487 C1851710
ICD10 via Orphanet 34 Q87.5
MedGen 40 C1851710
MeSH 42 D008588

Summaries for Lateral Meningocele Syndrome

OMIM : 54 Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility,... (130720) more...

MalaCards based summary : Lateral Meningocele Syndrome, also known as lehman syndrome, is related to limb-mammary syndrome and leiomyosarcoma, and has symptoms including malar flattening, hypertelorism and low-set ears. An important gene associated with Lateral Meningocele Syndrome is NOTCH3 (Notch 3). Affiliated tissues include bone, spinal cord and skin.

Genetics Home Reference : 25 Lateral meningocele syndrome is a disorder that affects the nervous system, the bones and muscles, and other body systems. The condition is characterized by abnormalities known as lateral meningoceles. Lateral meningoceles are protrusions of the membranes surrounding the spinal cord (known as the meninges) through gaps in the bones of the spine (vertebrae). The protrusions are most common and typically larger in the lower spine.

UniProtKB/Swiss-Prot : 66 Lateral meningocele syndrome: A very rare skeletal disorder with facial anomalies, hypotonia and neurologic dysfunction due to meningocele, a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. LMNS facial features include hypertelorism and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis.

Wikipedia : 71 The lateral meningocele syndrome is a very rare skeletal disorder with facial anomalies, hypotonia and... more...

GeneReviews: NBK368476

Related Diseases for Lateral Meningocele Syndrome

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

(show all 19)
id Related Disease Score Top Affiliating Genes
1 limb-mammary syndrome 11.4
2 leiomyosarcoma 11.2
3 microcystic lymphatic malformation 11.0
4 laurence-moon syndrome 10.8
5 lenz-majewski hyperostotic dwarfism 10.8
6 lactose intolerance 10.8
7 meningocele 10.1
8 testicular cancer 9.8
9 adult syndrome 9.8
10 hajdu-cheney syndrome 9.7
11 complex regional pain syndrome 9.7
12 neural tube defects 9.7
13 endometrial stromal sarcoma 9.7
14 smooth muscle tumor 9.7
15 insulin-like growth factor i 9.7
16 adenoiditis 9.7
17 sarcoma 9.7
18 osteogenesis imperfecta 9.7
19 leiomyoma 9.7

Graphical network of the top 20 diseases related to Lateral Meningocele Syndrome:



Diseases related to Lateral Meningocele Syndrome

Symptoms & Phenotypes for Lateral Meningocele Syndrome

Symptoms by clinical synopsis from OMIM:

130720

Clinical features from OMIM:

130720

Human phenotypes related to Lateral Meningocele Syndrome:

32 (show all 41)
id Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 short neck 32 HP:0000470
5 pectus excavatum 32 HP:0000767
6 high palate 32 HP:0000218
7 ptosis 32 HP:0000508
8 muscular hypotonia 32 HP:0001252
9 scoliosis 32 HP:0002650
10 kyphosis 32 HP:0002808
11 inguinal hernia 32 HP:0000023
12 umbilical hernia 32 HP:0001537
13 smooth philtrum 32 HP:0000319
14 coarse hair 32 HP:0002208
15 short stature 32 HP:0004322
16 long philtrum 32 HP:0000343
17 micrognathia 32 HP:0000347
18 patent ductus arteriosus 32 HP:0001643
19 dolichocephaly 32 HP:0000268
20 wormian bones 32 HP:0002645
21 cryptorchidism 32 HP:0000028
22 bicuspid aortic valve 32 HP:0001647
23 dental crowding 32 HP:0000678
24 joint hypermobility 32 HP:0001382
25 dural ectasia 32 HP:0100775
26 downslanted palpebral fissures 32 HP:0000494
27 meningocele 32 HP:0002435
28 conductive hearing impairment 32 HP:0000405
29 platybasia 32 HP:0002691
30 vertebral fusion 32 HP:0002948
31 abnormality of the middle ear ossicles 32 HP:0004452
32 motor delay 32 HP:0001270
33 abnormality of the skin 32 HP:0000951
34 biconcave vertebral bodies 32 HP:0004586
35 arachnoid cyst 32 HP:0100702
36 posteriorly rotated ears 32 HP:0000358
37 syringomyelia 32 HP:0003396
38 arnold-chiari type i malformation 32 HP:0007099
39 abnormality of the rib cage 32 HP:0001547
40 sclerosis of skull base 32 HP:0002694
41 short nasal bridge 32 HP:0003194

Drugs & Therapeutics for Lateral Meningocele Syndrome

Search Clinical Trials , NIH Clinical Center for Lateral Meningocele Syndrome

Genetic Tests for Lateral Meningocele Syndrome

Genetic tests related to Lateral Meningocele Syndrome:

id Genetic test Affiliating Genes
1 Lehman Syndrome 29
2 Lateral Meningocele Syndrome 24 NOTCH3

Anatomical Context for Lateral Meningocele Syndrome

MalaCards organs/tissues related to Lateral Meningocele Syndrome:

39
Bone, Spinal Cord, Skin

Publications for Lateral Meningocele Syndrome

Articles related to Lateral Meningocele Syndrome:

id Title Authors Year
1
Neurosurgical management in lateral meningocele syndrome: case report. ( 27911244 )
2016
2
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. ( 25394726 )
2014
3
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain. ( 24311540 )
2014
4
Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis. ( 23696373 )
2013
5
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. ( 21671395 )
2011
6
Lateral meningocele syndrome: vertical transmission and expansion of the phenotype. ( 15666314 )
2005
7
Lateral meningocele syndrome: three new patients and review of the literature. ( 9188658 )
1997
8
Lateral Meningocele Syndrome ( 27336130 )
1993

Variations for Lateral Meningocele Syndrome

ClinVar genetic disease variations for Lateral Meningocele Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NOTCH3 NM_000435.2(NOTCH3): c.6247A> T (p.Lys2083Ter) single nucleotide variant Pathogenic rs796065045 GRCh37 Chromosome 19, 15272192: 15272192
2 NOTCH3 NM_000435.2(NOTCH3): c.6732C> A (p.Tyr2244Ter) single nucleotide variant Pathogenic rs869312910 GRCh38 Chromosome 19, 15160896: 15160896
3 NOTCH3 NM_000435.2(NOTCH3): c.6692dupC (p.Ala2233Glyfs) duplication Pathogenic rs773656789 GRCh38 Chromosome 19, 15160936: 15160936
4 NOTCH3 NM_000435.2(NOTCH3): c.6663C> G (p.Tyr2221Ter) single nucleotide variant Pathogenic rs869312911 GRCh38 Chromosome 19, 15160965: 15160965
5 NOTCH3 NM_000435.2(NOTCH3): c.6461_6486del26 (p.Gly2154Alafs) deletion Pathogenic rs869312909 GRCh38 Chromosome 19, 15161142: 15161167
6 NOTCH3 NM_000435.2(NOTCH3): c.6498_6577del80 (p.Ala2167Profs) deletion Pathogenic GRCh38 Chromosome 19, 15161051: 15161130

Expression for Lateral Meningocele Syndrome

Search GEO for disease gene expression data for Lateral Meningocele Syndrome.

Pathways for Lateral Meningocele Syndrome

GO Terms for Lateral Meningocele Syndrome

Sources for Lateral Meningocele 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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