LMNS
MCID: LTR009
MIFTS: 53

Lateral Meningocele Syndrome (LMNS)

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

Aliases & Classifications for Lateral Meningocele Syndrome

MalaCards integrated aliases for Lateral Meningocele Syndrome:

Name: Lateral Meningocele Syndrome 56 12 24 52 25 58 73 36 29 6 43 15 71
Lehman Syndrome 56 12 24 52 25 58 73
Lms 56 52 25 73
Lmns 56 73
Meningocele, Lateral Syndrome 39
Meningocele 43

Characteristics:

Orphanet epidemiological data:

58
lateral meningocele syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

31
lateral meningocele syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance appears to be complete but data are limited.

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Lateral Meningocele Syndrome

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. 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 spondylocostal dysostosis, autosomal recessive. An important gene associated with Lateral Meningocele Syndrome is NOTCH3 (Notch Receptor 3), and among its related pathways/superpathways are Notch signaling pathway and Signaling by NOTCH1. Affiliated tissues include bone, eye and spinal cord, and related phenotypes are micrognathia and low-set ears

Disease Ontology : 12 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.

OMIM : 56 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)

KEGG : 36 Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness. The characteristic lateral meningoceles represent the severe end of the dural ectasia spectrum and are typically most severe in the lower spine. Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears, and a hypotonic appearance. Hyperextensibility, hernias and scoliosis reflect a connective tissue abnormality, and aortic dilation, a high-pitched nasal voice, wormian bones, and osteolysis may be present. NOTCH3 gain of function mediated via loss of the PEST degradation domain is associated with LMS.

UniProtKB/Swiss-Prot : 73 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 : 74 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 top 50) (show all 368)
# Related Disease Score Top Affiliating Genes
1 meningocele 30.8 NOTCH3 MESP2 HES7
2 spondylocostal dysostosis, autosomal recessive 29.9 MESP2 HES7
3 klippel-feil syndrome 29.8 MESP2 HES7
4 spondylocostal dysostosis 1, autosomal recessive 29.8 MESP2 HES7
5 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 29.2 NOTCH3 HEY2 HEY1
6 hajdu-cheney syndrome 29.1 NOTCH3 MESP2 HEYL HEY2 HES7
7 adams-oliver syndrome 27.9 NOTCH3 MESP2 HEY2 HEY1 HES7 EOGT
8 aortic valve disease 1 27.9 NOTCH3 MESP2 HEYL HEY2 HEY1 HES7
9 sacral defect with anterior meningocele 12.7
10 limb-mammary syndrome 12.4
11 cranial meningocele 12.3
12 posterior meningocele 12.3
13 sacral meningocele conotruncal heart defects 12.3
14 lenz-majewski hyperostotic dwarfism 12.0
15 myelomeningocele 11.7
16 currarino syndrome 11.6
17 superficial siderosis 11.5
18 sacrococcygeal teratoma 11.5
19 capillary lymphangioma 11.4
20 laurence-moon syndrome 11.2
21 lactose intolerance 11.2
22 rare lymphatic malformation 11.2
23 curry-jones syndrome 11.2
24 meningitis 10.6
25 constipation 10.4
26 encephalocele 10.4
27 meningoencephalocele 10.4
28 rapidly involuting congenital hemangioma 10.3
29 neurofibromatosis, type i 10.3
30 mollaret meningitis 10.3
31 dandy-walker syndrome 10.3
32 back pain 10.3
33 leiomyosarcoma 10.3
34 vaccinia 10.3
35 cystic teratoma 10.3
36 body mass index quantitative trait locus 1 10.3
37 meningioma, radiation-induced 10.3
38 meningioma, familial 10.3
39 benign teratoma 10.3
40 spinal meningioma 10.3
41 teratoma 10.3
42 secretory meningioma 10.3
43 lymphoplasmacyte-rich meningioma 10.3
44 ovarian cyst 10.3
45 mature teratoma 10.3
46 bacterial meningitis 10.3
47 cerebrospinal fluid leak 10.3
48 arachnoid cysts, intracranial 10.2
49 neurofibroma 10.2
50 hypotonia 10.2

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 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
2 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
4 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
5 narrow face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000275
6 dural ectasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100775
7 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
8 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
9 meningocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0002435
10 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
11 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
12 wormian bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0002645
13 atresia of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000413
14 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
15 craniofacial hyperostosis 58 31 frequent (33%) Frequent (79-30%) HP:0004493
16 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
17 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
18 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
19 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
20 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
21 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
22 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
23 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
24 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
25 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
26 abnormality of the middle ear ossicles 58 31 frequent (33%) Frequent (79-30%) HP:0004452
27 prominent metopic ridge 58 31 frequent (33%) Frequent (79-30%) HP:0005487
28 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
29 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
30 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
31 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
32 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
33 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
34 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
35 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
36 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
37 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
38 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
39 arnold-chiari malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002308
40 syringomyelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003396
41 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
42 high palate 58 31 Occasional (29-5%) HP:0000218
43 coarse hair 31 HP:0002208
44 short stature 31 HP:0004322
45 motor delay 31 HP:0001270
46 joint hypermobility 31 HP:0001382
47 patent ductus arteriosus 31 HP:0001643
48 long philtrum 31 HP:0000343
49 platybasia 31 HP:0002691
50 vertebral fusion 31 HP:0002948

Symptoms via clinical synopsis from OMIM:

56
Abdomen External Features:
inguinal hernia
umbilical hernia

Head And Neck Neck:
short neck

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

Muscle Soft Tissue:
hypotonia

Cardiovascular Heart:
bicuspid aortic valve (1 patient)

Skin Nails Hair Skin:
keloid formation

Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures

Skeletal Spine:
scoliosis
kyphosis
vertebral fusion
scalloping of vertebral bodies

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

Head And Neck Mouth:
high-arched palate

Skeletal:
joint hyperextensibility

Voice:
high nasal voice

Clinical features from OMIM:

130720

MGI Mouse Phenotypes related to Lateral Meningocele Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.5 CXXC1 HES7 HEY1 HEY2 MESP2 NOTCH3
2 mortality/aging MP:0010768 9.32 CXXC1 EOGT HES7 HEY1 HEY2 HEYL

Drugs & Therapeutics for Lateral Meningocele Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long Term Assessment and Outcome of Adult Patients With Congenital Genitourinary Abnormalities. Recruiting NCT03061084
2 Study of Fetoscopic Repair of Myelomeningocele in Fetuses With Isolated Spina Bifida Recruiting NCT03090633

Search NIH Clinical Center for Lateral Meningocele Syndrome

Cochrane evidence based reviews: meningocele

Genetic Tests for Lateral Meningocele Syndrome

Genetic tests related to Lateral Meningocele Syndrome:

# Genetic test Affiliating Genes
1 Lateral Meningocele Syndrome 29 NOTCH3

Anatomical Context for Lateral Meningocele Syndrome

MalaCards organs/tissues related to Lateral Meningocele Syndrome:

40
Bone, Eye, Spinal Cord, Heart, Skin, Smooth Muscle, Breast

Publications for Lateral Meningocele Syndrome

Articles related to Lateral Meningocele Syndrome:

(show all 39)
# Title Authors PMID Year
1
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. 6 56 24 61
25394726 2015
2
Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis. 6 61 24 56
23696373 2013
3
Lateral meningocele syndrome: vertical transmission and expansion of the phenotype. 6 61 56 24
15666314 2005
4
Lateral meningocele syndrome: three new patients and review of the literature. 24 6 56 61
9188658 1997
5
Hajdu-Cheney syndrome with severe dural ectasia. 24 6 56
21337686 2011
6
Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes. 61 56 24
21671395 2011
7
Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome. 61 24 56
8574426 1995
8
Familial osteosclerosis with abnormalities of the nervous system and meninges. 56 24
830893 1977
9
Lateral Meningocele Syndrome 61 6
27336130 2016
10
Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. 61 24
26754023 2016
11
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain. 61 24
24311540 2014
12
Primary empty sella turcica in children. Report of two familial cases. 56
229454 1979
13
Thoracic and lumbar dural ectasia in a two-year-old boy. 56
643353 1978
14
Computed tomography (CT) findings in 88 neurofibromatosis 1 (NF1) patients: Prevalence rates and correlations of thoracic findings. 24
25802206 2015
15
Differential Regulation of NOTCH2 and NOTCH3 Contribute to Their Unique Functions in Vascular Smooth Muscle Cells. 24
25957400 2015
16
PEST domain mutations in Notch receptors comprise an oncogenic driver segment in triple-negative breast cancer sensitive to a γ-secretase inhibitor. 24
25564152 2015
17
CADASIL and CARASIL. 24
25323668 2014
18
Mutations of NOTCH3 in childhood pulmonary arterial hypertension. 24
24936512 2014
19
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. 24
23731542 2013
20
Surgical treatment of thoracic menigocele associated with neurofibromatosis and kyphoscoliosis. 24
22263195 2011
21
Notch3: from subtle structural differences to functional diversity. 24
18758477 2008
22
A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome. 61
32399860 2020
23
Expansion of the phenotype of lateral meningocele syndrome. 61
32141180 2020
24
Notch Pathway and Inherited Diseases: Challenge and Promise. 61
32060876 2020
25
Neurosurgical Management of Lateral Meningocele Syndrome: A Clinical Update for the Pediatric Neurosurgeon. 61
31838470 2020
26
An antibody to Notch3 reverses the skeletal phenotype of lateral meningocele syndrome in male mice. 61
31188489 2020
27
The lateral meningocele syndrome mutation causes marked osteopenia in mice. 61
30042232 2018
28
Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders. 61
29979900 2018
29
The developmental biology of genetic Notch disorders. 61
28512196 2017
30
Neurosurgical management in lateral meningocele syndrome: case report. 61
27911244 2017
31
Lehman syndrome: a new syndrome for pierre robin sequence. 61
23962060 2015
32
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. 61
25821090 2015
33
PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex. 61
22720776 2012
34
MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome. 61
23074680 2011
35
Syndromes, disorders and maternal risk factors associated with neural tube defects (II). 61
18400577 2008
36
Genetic obesity syndromes. 61
18230893 2008
37
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900). 61
16912705 2006
38
Genetic analysis of testis weight and fertility in an interspecies hybrid congenic strain for Chromosome X. 61
11178743 2001
39
Transcription map of Xq27: candidates for several X-linked diseases. 61
10198160 1999

Variations for Lateral Meningocele Syndrome

ClinVar genetic disease variations for Lateral Meningocele Syndrome:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOTCH3 NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)SNV Pathogenic 447794 rs75068032 19:15298084-15298084 19:15187273-15187273
2 NOTCH3 NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr)SNV Pathogenic 447849 rs1236699193 19:15303013-15303013 19:15192202-15192202
3 NOTCH3 NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)SNV Pathogenic 208069 rs796065045 19:15272192-15272192 19:15161381-15161381
4 NOTCH3 NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)SNV Pathogenic 224882 rs869312910 19:15271707-15271707 19:15160896-15160896
5 NOTCH3 NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)duplication Pathogenic 224881 rs773656789 19:15271746-15271747 19:15160935-15160936
6 NOTCH3 NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)SNV Pathogenic 224883 rs869312911 19:15271776-15271776 19:15160965-15160965
7 NOTCH3 NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs)deletion Pathogenic 224880 rs869312909 19:15271953-15271978 19:15161142-15161167
8 NOTCH3 NM_000435.3(NOTCH3):c.6498_6577del (p.Ala2167fs)deletion Pathogenic 236550 rs1555725043 19:15271862-15271941 19:15161051-15161130
9 NOTCH3 NM_000435.3(NOTCH3):c.6626dup (p.Pro2210fs)duplication Pathogenic 694718 19:15271812-15271813 19:15161001-15161002
10 NOTCH3 NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)SNV Pathogenic/Likely pathogenic 447832 rs1555727841 19:15290914-15290914 19:15180103-15180103
11 NOTCH3 NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)SNV Pathogenic/Likely pathogenic 374637 rs777751303 19:15297937-15297937 19:15187126-15187126
12 NOTCH3 NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)SNV Pathogenic/Likely pathogenic 546089 rs201118034 19:15298126-15298126 19:15187315-15187315
13 NOTCH3 NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)SNV Pathogenic/Likely pathogenic 447862 rs775267348 19:15302831-15302831 19:15192020-15192020
14 NOTCH3 NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)SNV Uncertain significance 101050 rs371491165 19:15302999-15302999 19:15192188-15192188

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 KEGG:

36
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

GO Terms for Lateral Meningocele Syndrome

Cellular components related to Lateral Meningocele Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.7 TAF3 PIP4K2B PHF6 NOTCH3 MESP2 ING3
2 nuclear chromatin GO:0000790 9.55 MESP2 HEYL HEY2 HEY1 HES7
3 nucleoplasm GO:0005654 9.28 TAF3 PIP4K2B PHF6 NOTCH3 ING3 HEYL

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.11 NOTCH3 MESP2 HEYL HEY2 HEY1 HES7
2 multicellular organism development GO:0007275 10.07 NOTCH3 MESP2 HEYL HEY2 HEY1 HES7
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 NOTCH3 MESP2 HEYL HEY2 HEY1
4 cell differentiation GO:0030154 10.04 NOTCH3 HEYL HEY2 HEY1 HES7
5 negative regulation of transcription by RNA polymerase II GO:0000122 9.98 TAF3 PHF6 NOTCH3 HEYL HEY2 HEY1
6 negative regulation of transcription, DNA-templated GO:0045892 9.95 HEYL HEY2 HEY1 HES7
7 anterior/posterior pattern specification GO:0009952 9.76 HEYL HEY2 HEY1 HES7
8 negative regulation of Notch signaling pathway GO:0045746 9.71 NOTCH3 HEY2 HEY1
9 ventricular septum morphogenesis GO:0060412 9.67 HEYL HEY2 HEY1
10 aortic valve morphogenesis GO:0003180 9.64 HEYL HEY2
11 labyrinthine layer blood vessel development GO:0060716 9.63 HEY2 HEY1
12 positive regulation of transcription of Notch receptor target GO:0007221 9.63 NOTCH3 HEYL
13 endocardial cushion morphogenesis GO:0003203 9.62 HEYL HEY1
14 heart trabecula formation GO:0060347 9.62 HEY2 HEY1
15 cardiac septum morphogenesis GO:0060411 9.61 HEY2 HEY1
16 negative regulation of transcription regulatory region DNA binding GO:2000678 9.61 HEY2 HEY1
17 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.6 HEYL HEY2
18 negative regulation of biomineral tissue development GO:0070168 9.58 HEY2 HEY1
19 dorsal aorta morphogenesis GO:0035912 9.58 HEY2 HEY1
20 pulmonary valve morphogenesis GO:0003184 9.58 HEYL HEY2 HEY1
21 mesenchymal cell development GO:0014031 9.56 HEYL HEY2
22 arterial endothelial cell differentiation GO:0060842 9.55 HEY2 HEY1
23 cardiac epithelial to mesenchymal transition GO:0060317 9.54 HEYL HEY2 HEY1
24 regulation of vasculogenesis GO:2001212 9.52 HEY2 HEY1
25 negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation GO:2000820 9.51 HEY2 HEY1
26 Notch signaling involved in heart development GO:0061314 9.5 HEYL HEY2 HEY1
27 umbilical cord morphogenesis GO:0036304 9.48 HEY2 HEY1
28 regulation of neurogenesis GO:0050767 9.46 HEYL HEY2 HEY1 HES7
29 cardiac ventricle morphogenesis GO:0003208 9.43 HEYL HEY2 HEY1
30 circulatory system development GO:0072359 9.13 HEYL HEY2 HEY1
31 Notch signaling pathway GO:0007219 9.1 NOTCH3 MESP2 HEYL HEY2 HEY1 HES7

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 PHF6 MESP2 HEYL HEY2 HEY1 HES7
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.72 MESP2 HEYL HEY2 HEY1 HES7
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.56 HEYL HEY2 HEY1 HES7
4 transcription factor binding GO:0008134 9.46 HEYL HEY2 HEY1 HES7
5 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.35 PHF6 HEYL HEY2 HEY1 HES7
6 protein dimerization activity GO:0046983 9.02 MESP2 HEYL HEY2 HEY1 HES7

Sources for Lateral Meningocele Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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