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MCID: LPM007
MIFTS: 25

Lipomyelomeningocele

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Tissues Related diseases Publications Drugs
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Aliases & Classifications for Lipomyelomeningocele

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MalaCards integrated aliases for Lipomyelomeningocele:

Name: Lipomyelomeningocele 58 54 60 74
Familial Lipomyelomeningocele 54 74

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 58 609537
ICD10 via Orphanet 35 Q05.9
UMLS via Orphanet 75 C1836022
Orphanet 60 ORPHA268835
MedGen 43 C1836022
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Summaries for Lipomyelomeningocele

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MalaCards based summary : Lipomyelomeningocele, also known as familial lipomyelomeningocele, is related to myelomeningocele and tethered cord syndrome. The drugs Acetazolamide and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and bone.

Description from OMIM: 609537
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Related Diseases for Lipomyelomeningocele

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 myelomeningocele 10.2
2 tethered cord syndrome 10.2
3 neural tube defects 10.1
4 neural tube defects, folate-sensitive 10.1
5 arteriovenous fistula 10.1
6 arteriovenous malformation 10.1
7 syringomyelia 10.1
8 chiari malformation type i 10.0
9 chiari malformation 10.0
10 epidermoid cysts 9.9
11 lipomatosis, multiple 9.9
12 tetralogy of fallot 9.9
13 renal hypodysplasia/aplasia 1 9.9
14 anus, imperforate 9.9
15 diastematomyelia 9.9
16 enterocolitis 9.9
17 spondylocostal dysostosis 3, autosomal recessive 9.9
18 renal hypodysplasia/aplasia 3 9.9
19 hemangioma 9.9
20 sacrococcygeal teratoma 9.9
21 pleomorphic lipoma 9.9
22 klippel-feil syndrome 9.9
23 tethered spinal cord syndrome 9.9
24 subdural empyema 9.9
25 dysostosis 9.9
26 rhabdomyosarcoma 9.9
27 teratoma 9.9
28 pleural empyema 9.9
29 skin tag 9.9
30 lumbosacral lipoma 9.9
31 situs inversus 9.9
32 perinatal necrotizing enterocolitis 9.9
33 caudal regression sequence 9.9
34 encephalocele 9.9
35 split spinal cord malformation 9.9
36 occipital encephalocele 9.9

Graphical network of the top 20 diseases related to Lipomyelomeningocele:



Diseases related to Lipomyelomeningocele
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Symptoms & Phenotypes for Lipomyelomeningocele

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Clinical features from OMIM:

609537
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Drugs & Therapeutics for Lipomyelomeningocele

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Drugs for Lipomyelomeningocele (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
2 Natriuretic Agents Phase 2
3 diuretics Phase 2
4 Anticonvulsants Phase 2
5 Carbonic Anhydrase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Acetazolamide & Position in CSF Leakage and Collection and Wound Dehiscence Unknown status NCT01867268 Phase 2 Acetazolamide

Search NIH Clinical Center for Lipomyelomeningocele

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Genetic Tests for Lipomyelomeningocele

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Anatomical Context for Lipomyelomeningocele

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MalaCards organs/tissues related to Lipomyelomeningocele:

42
Spinal Cord, Skin, Bone
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Publications for Lipomyelomeningocele

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Articles related to Lipomyelomeningocele:

(show top 50) (show all 87)
# Title Authors Year
1
Contiguous Diastematomyelia with Lipomyelomeningocele in Each Hemicord-an Exceptional Case of Spinal Dysraphism. ( 30529523 )
2019
2
Fetal lipomyelomeningocele: A closed neural tube defect diagnosed at second-trimester ultrasound examination. ( 30411358 )
2019
3
Decreased MEPs during subcutaneous dissection for untethering surgery of a "true" lipomyelomeningocele: aggravated traction of the spinal cord by release of the sac from the original nest. ( 30617616 )
2019
4
Letter to the Editor Regarding "De Novo Spinal Dural Arteriovenous Fistula in Patient with Lipomyelomeningocele: Case Report". ( 30469294 )
2018
5
De Novo Spinal Dural Arteriovenous Fistula in a Patient with a Lipomyelomeningocele: Case Report. ( 29253691 )
2018
6
A Rare Case of "Human Tail" Associated with Lipomyelomeningocele and Tethered Cord. ( 30090147 )
2018
7
Klippel-Feil Syndrome Associated with Sacral Agenesis, Low Lying Cord, Lipomyelomeningocele and Split Cord Malformation Presenting with Tethered Cord Syndrome: Pentads Neural Tube Defects Spread along Whole Spinal Axis. ( 28553382 )
2017
8
Lateral lipomyelomeningocele of the hemicord with split cord malformation type I revealed by 3D heavily T2-weighted MR imaging. ( 28247108 )
2017
9
Spinal column shortening for tethered cord syndrome associated with myelomeningocele, lumbosacral lipoma, and lipomyelomeningocele in children and young adults. ( 28362188 )
2017
10
Surgical management of lipomyelomeningocele in children: Challenges and considerations. ( 28540129 )
2017
11
Lipomyelomeningocele for the urologist: Should we view it the same as myelomeningocele? ( 28583853 )
2017
12
Transgenerational Inheritance of Familial Lipomyelomeningocele. ( 29129155 )
2017
13
A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. ( 27200165 )
2016
14
Symptomatic retethering of the spinal cord in postoperative lipomyelomeningocele patients: a meta-analysis. ( 26248669 )
2016
15
Lack of efficacy of an intradural somatic-to-autonomic nerve anastomosis (Xiao procedure) for bladder control in children with myelomeningocele and lipomyelomeningocele: results of a prospective, randomized, double-blind study. ( 27137626 )
2016
16
Intracranial subdural empyema after surgery for lumbar lipomyelomeningocele: A rare complication. ( 27274400 )
2016
17
Urological Outcome of the Xiao Procedure in Children with Myelomeningocele and Lipomyelomeningocele Undergoing Spinal Cord Detethering. ( 27288694 )
2016
18
Adult cervicothoracic lipomyelomeningocele. ( 27430413 )
2016
19
Extraspinal type I dural arteriovenous fistula with a lumbosacral lipomyelomeningocele: a case report and review of the literature. ( 25949837 )
2015
20
Identical twins with lumbosacral lipomyelomeningocele. ( 25396701 )
2015
21
Prenatal diagnosis of lipomyelomeningocele by ultrasound and magnetic resonance imaging (MRI). ( 26524835 )
2015
22
Lumbosacral lipomyelomeningocele with anomalous osseous limb in a 3-month-old female. ( 27408662 )
2015
23
Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. ( 25624929 )
2014
24
An infant with PELVIS (perineal hemangioma, external genital malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tag) syndrome misdiagnosed as diaper rash. ( 24948350 )
2014
25
Reduction of caudal traction force using dural sac opening rather than spinal cord detethering for tethered cord syndrome caused by lipomyelomeningocele: a case report. ( 24613376 )
2014
26
Duplication of spine with hemi-lipomyelomeningocele. ( 23307194 )
2013
27
An accessory limb with lipomyelomeningocele in a male. ( 23392915 )
2013
28
Lack of uniformity in the clinical assessment of children with lipomyelomeningocele: a review of the literature and recommendations for the future. ( 23512293 )
2013
29
Comment to the paper by L. May: Lack of uniformity in the clinical assessment of children with lipomyelomeningocele. A review of the literature and recommendations for the future. ( 23512294 )
2013
30
Govert Bidloo (1649-1713) and the first description of lipomyelomeningocele. ( 23612873 )
2013
31
The spectrum of musculoskeletal problems in lipomyelomeningocele. ( 24432115 )
2013
32
Risk factors associated with lipomyelomeningocele: a case-control study. ( 24924296 )
2013
33
Nephrogenic rest within a lipomyelomeningocele in a patient with unilateral renal agenesis. ( 22432683 )
2012
34
Adult with sacral lipomyelomeningocele covered by an anomalous bone articulated with iliac bone: computed tomography and magnetic resonance images. ( 22639999 )
2012
35
Vertebral choristoma in lipomyelomeningocele: a case report. ( 22832189 )
2012
36
Lipomyelomeningocele: pathology, treatment, and outcomes. ( 23025444 )
2012
37
Spine-shortening osteotomy for patients with tethered cord syndrome caused by lipomyelomeningocele. ( 21495816 )
2011
38
Urodynamic score in children with lipomyelomeningocele: a prospective study. ( 21683378 )
2011
39
Growing mammary choristoma masquerading as a lumbosacral lipomyelomeningocele in a pubertal girl. ( 21882926 )
2011
40
Lumbar lipomyelomeningocele and sacrococcygeal teratoma in siblings: support for an alternative theory of spinal teratoma formation. ( 20515338 )
2010
41
Surgical treatment for lipomyelomeningocele in children. ( 20549411 )
2010
42
Lateral lower thoracic lipomyelomeningocele: a case report. ( 19830051 )
2009
43
Development of an acquired Chiari malformation Type I in the setting of an untreated lipomyelomeningocele. Case report. ( 18352791 )
2008
44
Impact of folic acid food fortification on the birth prevalence of lipomyelomeningocele in Canada. ( 18050337 )
2008
45
Critical analysis of the Chiari malformation Type I found in children with lipomyelomeningocele. ( 17465384 )
2007
46
Transient syringomyelia leading to acute neurological deterioration after repair of a lipomyelomeningocele: case report. ( 17762730 )
2007
47
Spontaneous regression of lipomyelomeningocele associated with terminal syringomyelia in a child. Case report. ( 17918535 )
2007
48
Cord untethering for lipomyelomeningocele: expectation after surgery. ( 17961013 )
2007
49
Cervical lipomyelomeningocele: case illustration. ( 18094910 )
2007
50
Lipomyelomeningocele and arteriovenous malformation: case reports and a review of the literature. ( 16555082 )
2006
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Variations for Lipomyelomeningocele

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Expression for Lipomyelomeningocele

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Search GEO for disease gene expression data for Lipomyelomeningocele.
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Pathways for Lipomyelomeningocele

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GO Terms for Lipomyelomeningocele

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Sources for Lipomyelomeningocele

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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