LMNS
MCID: LTR009
MIFTS: 55

Lateral Meningocele Syndrome (LMNS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lateral Meningocele Syndrome

MalaCards integrated aliases for Lateral Meningocele Syndrome:

Name: Lateral Meningocele Syndrome 57 11 19 42 58 73 28 5 43 14 71 75
Lehman Syndrome 57 11 19 42 58 73
Lms 57 19 42 73
Lmns 57 73
Meningocele, Lateral Syndrome 38

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
de novo mutation


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Lateral Meningocele Syndrome

MedlinePlus Genetics: 42 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.The meningoceles associated with this disorder may damage the nerves that spread from the spine to the rest of the body. Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. Prickling or tingling sensations (paresthesias), progressive stiffness and weakness in the legs (paraparesis), and back pain can also occur. Delayed development of motor skills in infancy, such as sitting and crawling, often occurs in this disorder; intelligence is usually unaffected.Other features of lateral meningocele syndrome can include low muscle tone (hypotonia) during infancy, decreased muscle bulk, loose (hyperextensible) joints that can lead to dislocations, and protrusion of organs through gaps in muscles (hernias). Spinal abnormalities are also common, including side-to-side curvature of the spine (scoliosis), abnormal joining (fusion) of two or more vertebrae, and vertebrae that are unusually shaped (scalloped).People with lateral meningocele syndrome typically have a particular pattern of facial features that may include high arched eyebrows, widely spaced eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), and droopy eyelids (ptosis). Affected individuals may have a flat appearance of the middle of the face and cheekbones (midface and malar hypoplasia); low-set ears; a long area between the nose and mouth (long philtrum); a thin upper lip; a high, narrow roof of the mouth, occasionally with an abnormal opening (a cleft palate); a small jaw (micrognathia); coarse hair; and a low hairline at the back of the neck.Other signs and symptoms that can occur in lateral meningocele syndrome include a high and nasal voice, hearing loss, abnormalities of the heart or the genitourinary system, poor feeding, difficulty swallowing (dysphagia), and backflow of stomach acids into the esophagus (called gastroesophageal reflux or GERD).

MalaCards based summary: Lateral Meningocele Syndrome, also known as lehman syndrome, is related to meningocele and cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1. An important gene associated with Lateral Meningocele Syndrome is NOTCH3 (Notch Receptor 3), and among its related pathways/superpathways are Disease and Signal Transduction. Affiliated tissues include spinal cord, heart and skin, and related phenotypes are ptosis and micrognathia

OMIM®: 57 Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015). (130720) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal.

Orphanet: 58 A rare genetic neurological disorder characterized by multiple lateral meningoceles, distinctive facial dysmorphism (including hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, micrognathia, and high, narrow palate, among others), and skeletal abnormalities (e. g. vertebral anomalies, wormian bones, short stature, and scoliosis). Multiple additional features may present, such as conductive hearing impairment, hypotonia, and connective tissue and urogenital abnormalities. Cognition is usually normal.

Disease Ontology: 11 A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has material basis in heterozygous mutation in NOTCH3 on chromosome 19p13.12.

Wikipedia: 75 Lateral meningocele syndrome, also known as Lehman syndrome, is a very rare skeletal disorder with... more...

Related Diseases for Lateral Meningocele Syndrome

Diseases in the Lateral Meningocele Syndrome family:

Notch3-Related Lateral Meningocele Syndrome

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

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 meningocele 30.4 NOTCH3 MESP2 HES7
2 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 29.8 NOTCH3 NOTCH1 HEY1
3 endosteal hyperostosis, autosomal dominant 29.3 NOTCH1 MESP2 HEY1
4 hajdu-cheney syndrome 28.2 NOTCH4 NOTCH3 NOTCH2 NOTCH1 MESP2 HEYL
5 aortic valve disease 1 28.0 NOTCH4 NOTCH3 NOTCH2 NOTCH1 MESP2 HEYL
6 limb-mammary syndrome 11.5
7 notch3-related lateral meningocele syndrome 11.3
8 lenz-majewski hyperostotic dwarfism 11.3
9 laurence-moon syndrome 11.0
10 leiomyosarcoma 10.4
11 connective tissue disease 10.4
12 hypotonia 10.3
13 marfan syndrome 10.2
14 scoliosis 10.2
15 borjeson-forssman-lehmann syndrome 10.2
16 oliver syndrome 10.1 NOTCH1 EOGT
17 body mass index quantitative trait locus 1 10.1
18 loeys-dietz syndrome 1 10.1
19 loeys-dietz syndrome 10.1
20 hydrocephalus 10.1
21 syringomyelia 10.1
22 idiopathic syringomyelia 10.1
23 uterus leiomyosarcoma 10.1
24 aplasia cutis congenita 10.0 NOTCH1 EOGT
25 split-hand/foot malformation 1 10.0
26 deficiency anemia 10.0
27 split hand-foot malformation 10.0
28 sarcoma 10.0
29 neutropenia 10.0
30 leiomyoma 10.0
31 toxoplasmosis 10.0
32 isolated split hand-split foot malformation 10.0
33 gastroesophageal reflux 10.0
34 cleft palate, isolated 10.0
35 hypertelorism 10.0
36 keloid formation 10.0
37 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
38 telecanthus 10.0
39 cryptorchidism, unilateral or bilateral 10.0
40 aortic valve disease 2 10.0
41 aortic valve disease 3 10.0
42 ptosis 10.0
43 bone disease 10.0
44 tethered spinal cord syndrome 10.0
45 neurogenic bladder 10.0
46 enterocele 10.0
47 ehlers-danlos syndrome 10.0
48 cystic kidney disease 10.0
49 neurofibromatosis 10.0
50 chiari malformation 10.0

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



Diseases related to Lateral Meningocele Syndrome

Symptoms & Phenotypes for Lateral Meningocele Syndrome

Human phenotypes related to Lateral Meningocele Syndrome:

58 30 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000508
2 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
3 low-set ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000369
4 high, narrow palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002705
5 narrow face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000275
6 dural ectasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100775
7 dolichocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000268
8 downslanted palpebral fissures 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000494
9 meningocele 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002435
10 conductive hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000405
11 malar flattening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000272
12 wormian bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002645
13 atresia of the external auditory canal 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000413
14 posteriorly rotated ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000358
15 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
16 short neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000470
17 craniofacial hyperostosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0004493
18 inguinal hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000023
19 umbilical hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001537
20 smooth philtrum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000319
21 abnormal form of the vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0003312
22 low posterior hairline 58 30 Frequent (33%) Frequent (79-30%)
HP:0002162
23 pectus excavatum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000767
24 dental crowding 58 30 Frequent (33%) Frequent (79-30%)
HP:0000678
25 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0005692
26 abnormality of the middle ear ossicles 58 30 Frequent (33%) Frequent (79-30%)
HP:0004452
27 prominent metopic ridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0005487
28 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
29 hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001252
30 hyperlordosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003307
31 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263
32 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
33 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
34 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
35 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
36 iris coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000612
37 proptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000520
38 ventricular septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001629
39 syringomyelia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003396
40 bicuspid aortic valve 30 Occasional (7.5%) HP:0001647
41 chiari malformation 30 Occasional (7.5%) HP:0002308
42 high palate 58 30 Occasional (29-5%)
HP:0000218
43 coarse hair 30 HP:0002208
44 short stature 30 HP:0004322
45 motor delay 30 HP:0001270
46 joint hypermobility 30 HP:0001382
47 patent ductus arteriosus 30 HP:0001643
48 long philtrum 30 HP:0000343
49 platybasia 30 HP:0002691
50 arnold-chiari malformation 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
kyphosis
vertebral fusion
scalloping of vertebral bodies

Head And Neck Neck:
short neck

Abdomen External Features:
inguinal hernia
umbilical hernia

Growth Height:
short stature

Head And Neck Face:
micrognathia
malar hypoplasia
long, smooth philtrum

Chest External Features:
pectus excavatum

Neurologic Central Nervous System:
dural ectasia
syringomyelia
arachnoid cyst
delayed motor development
chiari i malformation
more
Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Nose:
short nasal bridge

Cardiovascular Heart:
bicuspid aortic valve (1 patient)

Skin Nails Hair Skin:
keloid formation

Head And Neck Eyes:
ptosis
hypertelorism
downslanting palpebral fissures

Muscle Soft Tissue:
hypotonia

Skin Nails Hair Hair:
coarse hair

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss, conductive
malformed ossicles

Head And Neck Teeth:
dental crowding

Head And Neck Head:
dolichocephaly

Skeletal Skull:
platybasia
wormian bones
sclerosis of the skull base

Head And Neck Mouth:
high-arched palate

Skeletal:
joint hyperextensibility

Voice:
high nasal voice

Clinical features from OMIM®:

130720 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Lateral Meningocele Syndrome according to GeneCards Suite gene sharing:

25 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.55 PHF6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.55 HEY2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.55 NOTCH1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.55 NOTCH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.55 NOTCH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.55 NOTCH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.55 HEY2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.55 HEY2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.55 HEY2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.55 HEY2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.55 HEY2 NOTCH1 PHF6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.55 NOTCH1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-64 9.55 PHF6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.55 HEY2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.55 HEY2

MGI Mouse Phenotypes related to Lateral Meningocele Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.1 HEY1 HEY2 HEYL MESP2 NOTCH1 NOTCH2
2 growth/size/body region MP:0005378 10.06 HES7 HEY1 HEY2 HEYL MESP2 NOTCH1
3 normal MP:0002873 9.98 HEY1 HEYL MESP2 NOTCH1 NOTCH2 NOTCH3
4 muscle MP:0005369 9.91 HEY1 HEY2 HEYL MESP2 NOTCH1 NOTCH2
5 embryo MP:0005380 9.91 HES7 HEY1 HEY2 MESP2 NOTCH1 NOTCH2
6 cardiovascular system MP:0005385 9.81 ATP6V1H HEY1 HEY2 HEYL MESP2 NOTCH1
7 skeleton MP:0005390 9.56 ATP6V1H HES7 MESP2 NOTCH1 NOTCH2 NOTCH3
8 mortality/aging MP:0010768 9.44 ATP6V1H EOGT HES7 HEY1 HEY2 HEYL

Drugs & Therapeutics for Lateral Meningocele Syndrome

Search Clinical Trials, NIH Clinical Center for Lateral Meningocele Syndrome

Cochrane evidence based reviews: lateral meningocele syndrome

Genetic Tests for Lateral Meningocele Syndrome

Genetic tests related to Lateral Meningocele Syndrome:

# Genetic test Affiliating Genes
1 Lateral Meningocele Syndrome 28 NOTCH3

Anatomical Context for Lateral Meningocele Syndrome

Organs/tissues related to Lateral Meningocele Syndrome:

MalaCards : Spinal Cord, Heart, Skin, Lymph Node, Testis, Thyroid, Brain

Publications for Lateral Meningocele Syndrome

Articles related to Lateral Meningocele Syndrome:

(show top 50) (show all 124)
# Title Authors PMID Year
1
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 62 57 5
25394726 2015
2
Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis. 62 57 5
23696373 2013
3
Lateral meningocele syndrome: vertical transmission and expansion of the phenotype. 62 57 5
15666314 2005
4
Lateral meningocele syndrome: three new patients and review of the literature. 62 57 5
9188658 1997
5
Hajdu-Cheney syndrome with severe dural ectasia. 57 5
21337686 2011
6
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. 62 57
21671395 2011
7
Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome. 62 57
8574426 1995
8
Primary empty sella turcica in children. Report of two familial cases. 57
229454 1979
9
Thoracic and lumbar dural ectasia in a two-year-old boy. 57
643353 1978
10
Familial osteosclerosis with abnormalities of the nervous system and meninges. 57
830893 1977
11
Lower Motoneuron Dysfunction Impacts Spontaneous Motor Recovery in Acute Cervical Spinal Cord Injury. 62
36006372 2022
12
Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis. 62
36308529 2022
13
Correlation between clinical phenotype and electromyographic parameters in amyotrophic lateral sclerosis. 62
36183286 2022
14
Does Essential Tremor Alter the Axonal Excitability Properties of Lower Motor Neurons? 62
33369992 2022
15
Induction of a NOTCH3 Lehman syndrome mutation in osteocytes causes osteopenia in male C57BL/6J mice. 62
35760307 2022
16
Human Microglia-like Cells: Differentiation from Induced Pluripotent Stem Cells and In Vitro Live-cell Phagocytosis Assay using Human Synaptosomes. 62
36063018 2022
17
Transcranial Magnetic Stimulation and Transcranial Electrical Stimulation in Horses. 62
35811197 2022
18
Management of lateral meningocele syndrome in a child without neurological symptoms and literature review. 62
35128567 2022
19
Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis. 62
34121137 2022
20
Radial motor nerve conduction studies recorded from triceps brachii and extensor carpi radialis longus: Techniques and reference values. 62
34862799 2022
21
Human endogenous retrovirus K (HERV-K) env in neuronal extracellular vesicles: a new biomarker of motor neuron disease. 62
34151656 2022
22
Serum Neurofilament Light Chain Levels May Be a Marker of Lower Motor Neuron Damage in Amyotrophic Lateral Sclerosis. 62
35280276 2022
23
Use of antisense oligonucleotides to target Notch3 in skeletal cells. 62
35536858 2022
24
Brain Connectivity and Network Analysis in Amyotrophic Lateral Sclerosis. 62
35178253 2022
25
Craniosynostosis of the Metopic Suture in a Patient With CADASIL/Lehman Syndrome. 62
34172679 2021
26
Sophisticated regulation of micturition: review of basic neurourology. 62
34805017 2021
27
Advances in Gene Delivery Methods to Label and Modulate Activity of Upper Motor Neurons: Implications for Amyotrophic Lateral Sclerosis. 62
34573134 2021
28
Stamp-Perforation-Inspired Micronotch for Selectively Tearing Fiber-Bridged Carbon Nanotube Thin Films and Its Applications for Strain Classification. 62
34181397 2021
29
Precise detection of a murine germline mutation of the Notch3 gene associated with kyphosis and developmental disorders. 62
33860007 2021
30
A novel hypothesis on metal dyshomeostasis and mitochondrial dysfunction in amyotrophic lateral sclerosis: Potential pathogenetic mechanism and therapeutic implications. 62
33220280 2021
31
TDP43 proteinopathy is associated with aberrant DNA methylation in human amyotrophic lateral sclerosis. 62
32365404 2021
32
The role of glycinergic inhibition in respiratory pattern formation and cardio-respiratory coupling in rats. 62
34746829 2021
33
Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome. 62
32994169 2020
34
Electrophysiological Findings of Subclinical Lower Motor Neuron Involvement in Degenerative Upper Motor Neuron Diseases. 62
32952426 2020
35
A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome. 62
32399860 2020
36
Past, Present, and Future in the Study of Neural Control of the Lower Urinary Tract. 62
33017890 2020
37
Motor unit number index detects the effectiveness of surgical treatment in improving distal motor neuron loss in patients with incomplete cervical spinal cord injury. 62
32799830 2020
38
Early Surgical Decompression Ameliorates Dysfunction of Spinal Motor Neuron in Patients With Acute Traumatic Central Cord Syndrome: An Ambispective Cohort Analysis. 62
32097277 2020
39
Rate of Information Flow Across Layered Neuro-Spike Network in the Spinal Cord. 62
32167905 2020
40
Expansion of the phenotype of lateral meningocele syndrome. 62
32141180 2020
41
Genomic analysis reveals low tumor mutation burden which may be associated with GNAQ/11 alteration in a series of primary leptomeningeal melanomas. 62
31663661 2020
42
Immobility and F-waves: Impact on lower motor neuron excitability. 62
31998973 2020
43
Infantile Presentation of Lehman Syndrome with Multiple Lateral Meningoceles, Dural Ectasias, and Herniation of Conus: A Rare Case Report. 62
33042242 2020
44
Notch Pathway and Inherited Diseases: Challenge and Promise. 62
32060876 2020
45
Neurosurgical Management of Lateral Meningocele Syndrome: A Clinical Update for the Pediatric Neurosurgeon. 62
31838470 2020
46
The Skeleton of Lateral Meningocele Syndrome. 62
33519922 2020
47
An antibody to Notch3 reverses the skeletal phenotype of lateral meningocele syndrome in male mice. 62
31188489 2020
48
Living Bacterial Microneedles for Fungal Infection Treatment. 62
33623902 2020
49
Mechanoresponsive Polymerized Liquid Metal Networks. 62
31403234 2019
50
Sensory modulation of fasciculation discharge frequency. 62
30809821 2019

Variations for Lateral Meningocele Syndrome

ClinVar genetic disease variations for Lateral Meningocele Syndrome:

5 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NOTCH3 NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) SNV Pathogenic
447849 rs1236699193 GRCh37: 19:15303013-15303013
GRCh38: 19:15192202-15192202
2 NOTCH3 NM_000435.3(NOTCH3):c.6626dup (p.Pro2210fs) DUP Pathogenic
694718 rs1599359239 GRCh37: 19:15271812-15271813
GRCh38: 19:15161001-15161002
3 NOTCH3 NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter) SNV Pathogenic
208069 rs796065045 GRCh37: 19:15272192-15272192
GRCh38: 19:15161381-15161381
4 NOTCH3 NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs) DEL Pathogenic
224880 rs869312909 GRCh37: 19:15271953-15271978
GRCh38: 19:15161142-15161167
5 NOTCH3 NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter) SNV Pathogenic
224883 rs869312911 GRCh37: 19:15271776-15271776
GRCh38: 19:15160965-15160965
6 NOTCH3 NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs) DUP Pathogenic
224881 rs773656789 GRCh37: 19:15271746-15271747
GRCh38: 19:15160935-15160936
7 NOTCH3 NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter) SNV Pathogenic
224882 rs869312910 GRCh37: 19:15271707-15271707
GRCh38: 19:15160896-15160896
8 NOTCH3 NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) SNV Pathogenic
447794 rs75068032 GRCh37: 19:15298084-15298084
GRCh38: 19:15187273-15187273
9 NOTCH3 NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) SNV Likely Pathogenic
546089 rs201118034 GRCh37: 19:15298126-15298126
GRCh38: 19:15187315-15187315
10 NOTCH3 NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) SNV Likely Pathogenic
447862 rs775267348 GRCh37: 19:15302831-15302831
GRCh38: 19:15192020-15192020
11 NOTCH3 NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) SNV Likely Pathogenic
447832 rs1555727841 GRCh37: 19:15290914-15290914
GRCh38: 19:15180103-15180103
12 NOTCH3 NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) SNV Likely Pathogenic
374637 rs777751303 GRCh37: 19:15297937-15297937
GRCh38: 19:15187126-15187126
13 NOTCH3 NM_000435.3(NOTCH3):c.2410+7C>T SNV Uncertain Significance
1696468 GRCh37: 19:15295710-15295710
GRCh38: 19:15184899-15184899
14 NOTCH3 NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) SNV Uncertain Significance
101050 rs371491165 GRCh37: 19:15302999-15302999
GRCh38: 19:15192188-15192188
15 NOTCH3 NM_000435.3(NOTCH3):c.4562C>G (p.Pro1521Arg) SNV Uncertain Significance
1319920 GRCh37: 19:15285053-15285053
GRCh38: 19:15174242-15174242
16 NOTCH3 NM_000435.3(NOTCH3):c.5913+55A>G SNV Benign
1181077 GRCh37: 19:15273221-15273221
GRCh38: 19:15162410-15162410
17 NOTCH3 NM_000435.3(NOTCH3):c.5913+45T>C SNV Benign
1229369 GRCh37: 19:15273231-15273231
GRCh38: 19:15162420-15162420
18 NOTCH3 NM_000435.3(NOTCH3):c.1192+15A>G SNV Benign
256118 rs10423702 GRCh37: 19:15300069-15300069
GRCh38: 19:15189258-15189258
19 NOTCH3 NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) SNV Benign
256129 rs1043996 GRCh37: 19:15295134-15295134
GRCh38: 19:15184323-15184323
20 NOTCH3 NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=) SNV Benign
256130 rs1043997 GRCh37: 19:15292437-15292437
GRCh38: 19:15181626-15181626
21 NOTCH3 NM_000435.3(NOTCH3):c.303C>T (p.Thr101=) SNV Benign
256131 rs3815188 GRCh37: 19:15303225-15303225
GRCh38: 19:15192414-15192414
22 NOTCH3 NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=) SNV Benign
256138 rs1044006 GRCh37: 19:15285052-15285052
GRCh38: 19:15174241-15174241
23 NOTCH3 NM_000435.3(NOTCH3):c.5362+3T>C SNV Benign
256140 rs1548555 GRCh37: 19:15278057-15278057
GRCh38: 19:15167246-15167246
24 NOTCH3 NM_000435.3(NOTCH3):c.5363-17C>T SNV Benign
256141 rs2074619 GRCh37: 19:15276919-15276919
GRCh38: 19:15166108-15166108
25 NOTCH3 NM_000435.3(NOTCH3):c.5816-8T>C SNV Benign
256145 rs4809030 GRCh37: 19:15273381-15273381
GRCh38: 19:15162570-15162570
26 NOTCH3 NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) SNV Benign
256148 rs1043994 GRCh37: 19:15302844-15302844
GRCh38: 19:15192033-15192033
27 NOTCH3 NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) SNV Benign
256152 rs1044009 GRCh37: 19:15271771-15271771
GRCh38: 19:15160960-15160960
28 NOTCH3 NM_000435.3(NOTCH3):c.3837+21T>A SNV Benign
811005 rs11670823 GRCh37: 19:15289613-15289613
GRCh38: 19:15178802-15178802
29 MIR6795, NOTCH3 NM_000435.3(NOTCH3):c.3461-32C>T SNV Benign
811006 rs56061231 GRCh37: 19:15290125-15290125
GRCh38: 19:15179314-15179314
30 NOTCH3 NM_000435.3(NOTCH3):c.4892-22G>T SNV Benign
811007 rs2074620 GRCh37: 19:15281386-15281386
GRCh38: 19:15170575-15170575
31 NOTCH3 NM_000435.3(NOTCH3):c.5363-21G>A SNV Benign
811008 rs10416777 GRCh37: 19:15276923-15276923
GRCh38: 19:15166112-15166112
32 NOTCH3 NM_000435.3(NOTCH3):c.2792+21G>A SNV Benign
811009 rs11669982 GRCh37: 19:15292366-15292366
GRCh38: 19:15181555-15181555
33 NOTCH3 NM_000435.3(NOTCH3):c.5815+36G>A SNV Benign
811010 rs2074618 GRCh37: 19:15276143-15276143
GRCh38: 19:15165332-15165332
34 NOTCH3 NM_000435.3(NOTCH3):c.5913+28T>G SNV Benign
811011 rs4809029 GRCh37: 19:15273248-15273248
GRCh38: 19:15162437-15162437
35 NOTCH3 NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) SNV Not Provided
447825 rs1167405466 GRCh37: 19:15291572-15291572
GRCh38: 19:15180761-15180761
36 NOTCH3 NM_000435.3(NOTCH3):c.6498_6577del (p.Ala2167fs) DEL Not Provided
236550 rs1555725043 GRCh37: 19:15271862-15271941
GRCh38: 19:15161051-15161130

Expression for Lateral Meningocele Syndrome

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

Pathways for Lateral Meningocele Syndrome

Pathways related to Lateral Meningocele Syndrome according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 ATP6V1H HEY1 HEY2 HEYL NOTCH1 NOTCH2
2 13.64 PIP4K2B NOTCH4 NOTCH3 NOTCH2 NOTCH1 HEYL
3
Show member pathways
12.62 NOTCH4 NOTCH3 NOTCH2 NOTCH1 HEYL HEY2
4
Show member pathways
12.58 NOTCH4 NOTCH3 NOTCH2 NOTCH1
5
Show member pathways
12.54 NOTCH1 HEYL HEY2 HEY1
6 12.45 NOTCH4 NOTCH3 NOTCH2 NOTCH1
7 12.17 NOTCH4 NOTCH3 NOTCH2 NOTCH1
8
Show member pathways
12.13 NOTCH4 NOTCH3 NOTCH2 NOTCH1 HEYL HEY2
9 12.09 NOTCH4 NOTCH3 NOTCH2 NOTCH1
10
Show member pathways
12.06 NOTCH3 NOTCH2 NOTCH1
11
Show member pathways
12.02 NOTCH4 NOTCH3 NOTCH2 NOTCH1
12 12 NOTCH4 NOTCH3 NOTCH2 NOTCH1
13 11.9 NOTCH1 NOTCH2 NOTCH3 NOTCH4
14
Show member pathways
11.87 NOTCH1 HEY2 HEY1
15 11.77 HEY2 NOTCH1 NOTCH2 NOTCH3 NOTCH4
16 11.76 NOTCH4 NOTCH3 NOTCH2 NOTCH1
17 11.72 NOTCH4 NOTCH3 NOTCH2 NOTCH1 HEY1
18
Show member pathways
11.56 NOTCH4 NOTCH3 NOTCH2 NOTCH1
19
Show member pathways
11.52 NOTCH3 NOTCH1 HEYL HEY2 HEY1
20 11.51 NOTCH4 NOTCH3 NOTCH2 NOTCH1
21 11.45 NOTCH1 HEY2 HEY1
22 11.43 NOTCH1 HEY2 HEY1
23 11.41 NOTCH4 NOTCH3 NOTCH2 NOTCH1
24 11.31 NOTCH4 NOTCH1 EOGT
25 11.25 NOTCH4 NOTCH3 NOTCH2 NOTCH1
26
Show member pathways
11 NOTCH1 MESP2 HES7
28 10.79 NOTCH4 NOTCH3 NOTCH2 NOTCH1 HEY1

GO Terms for Lateral Meningocele Syndrome

Biological processes related to Lateral Meningocele Syndrome according to GeneCards Suite gene sharing:

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.55 HES7 HEY1 HEY2 HEYL MESP2 NOTCH1
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.43 HES7 HEY1 HEY2 HEYL NOTCH1 NOTCH2
3 negative regulation of gene expression GO:0010629 10.3 NOTCH2 NOTCH1 HEYL HEY2
4 regulation of DNA-templated transcription GO:0006355 10.24 NOTCH4 NOTCH3 NOTCH2 NOTCH1 MESP2 HEYL
5 anterior/posterior pattern specification GO:0009952 10.2 HEYL HEY2 HEY1 HES7
6 outflow tract morphogenesis GO:0003151 10.11 HEY2 HEYL NOTCH1
7 ventricular septum morphogenesis GO:0060412 10.11 HEY1 HEY2 HEYL NOTCH1
8 aortic valve morphogenesis GO:0003180 10.08 NOTCH1 HEYL HEY2 HEY1
9 negative regulation of neuron differentiation GO:0045665 10.05 NOTCH3 NOTCH1 HEY1
10 endocardial cushion morphogenesis GO:0003203 10.05 NOTCH1 HEYL HEY1
11 cardiac septum morphogenesis GO:0060411 10.03 NOTCH1 HEY2 HEY1
12 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 10.02 NOTCH1 HEYL HEY2
13 cell fate determination GO:0001709 10 NOTCH4 NOTCH2
14 negative regulation of biomineral tissue development GO:0070168 10 NOTCH1 HEY2 HEY1
15 cardiac conduction system development GO:0003161 9.99 HEY2 HEY1
16 left/right axis specification GO:0070986 9.99 NOTCH2 NOTCH1
17 heart trabecula formation GO:0060347 9.99 HEY2 HEY1
18 circulatory system development GO:0072359 9.99 HEY2 HEY1
19 ventricular trabecula myocardium morphogenesis GO:0003222 9.98 NOTCH1 HEY2
20 negative regulation of transcription regulatory region DNA binding GO:2000678 9.98 HEY2 HEY1
21 atrioventricular valve morphogenesis GO:0003181 9.97 NOTCH1 HEYL
22 atrial septum morphogenesis GO:0060413 9.97 NOTCH2 HEY2
23 negative regulation of cell adhesion molecule production GO:0060354 9.97 NOTCH4 NOTCH1
24 mesenchymal cell development GO:0014031 9.97 NOTCH1 HEYL HEY2
25 cardiac epithelial to mesenchymal transition GO:0060317 9.97 NOTCH1 HEYL HEY2 HEY1
26 regulation of neurogenesis GO:0050767 9.97 NOTCH1 HEYL HEY2 HEY1 HES7
27 cardiac left ventricle morphogenesis GO:0003214 9.96 HEY2 NOTCH1
28 negative regulation of cell-cell adhesion mediated by cadherin GO:2000048 9.96 NOTCH1 NOTCH4
29 dorsal aorta morphogenesis GO:0035912 9.95 HEY2 HEY1
30 positive regulation of transcription of Notch receptor target GO:0007221 9.95 NOTCH4 NOTCH1
31 atrioventricular node development GO:0003162 9.94 NOTCH2 NOTCH1
32 proximal tubule development GO:0072014 9.93 NOTCH2 HEYL
33 cellular response to tumor cell GO:0071228 9.93 NOTCH2 NOTCH1
34 arterial endothelial cell differentiation GO:0060842 9.93 NOTCH1 HEY2 HEY1
35 cardiac vascular smooth muscle cell development GO:0060948 9.92 HEY2 NOTCH1
36 glomerular capillary formation GO:0072104 9.92 NOTCH2 NOTCH3
37 negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation GO:2000820 9.91 HEY1 HEY2
38 regulation of vasculogenesis GO:2001212 9.91 HEY1 HEY2
39 umbilical cord morphogenesis GO:0036304 9.88 HEY2 HEY1
40 multicellular organism development GO:0007275 9.87 NOTCH1 NOTCH2 NOTCH3 NOTCH4
41 cardiac ventricle morphogenesis GO:0003208 9.86 HEY1 HEY2 HEYL NOTCH1
42 pulmonary valve morphogenesis GO:0003184 9.85 NOTCH2 NOTCH1 HEYL HEY2 HEY1
43 regulation of inner ear auditory receptor cell differentiation GO:0045607 9.77 NOTCH1 HEY2
44 regulation of developmental process GO:0050793 9.71 NOTCH4 NOTCH3 NOTCH2 NOTCH1
45 Notch signaling involved in heart development GO:0061314 9.65 HEY1 HEY2 HEYL NOTCH1 NOTCH2
46 Notch signaling pathway GO:0007219 9.55 NOTCH4 NOTCH3 NOTCH2 NOTCH1 MESP2 HEYL

Molecular functions related to Lateral Meningocele Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.5 NOTCH4 NOTCH3 NOTCH2 NOTCH1
2 protein dimerization activity GO:0046983 9.28 MESP2 HEYL HEY2 HEY1 HES7

Sources for Lateral Meningocele Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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