H-SMD
MCID: LKN029
MIFTS: 21

Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome (H-SMD)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

MalaCards integrated aliases for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome:

Name: Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome 59
Leukoencephalopathy-Metaphyseal Chondrodysplasia Syndrome 59
Hypomyelination-Spondylometaphyseal Dysplasia Syndrome 59
H-Smd 59

Characteristics:

Orphanet epidemiological data:

59
leukoencephalopathy-spondylometaphyseal dysplasia syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G11.4
UMLS via Orphanet 73 C1970840
Orphanet 59 ORPHA83629

Summaries for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

MalaCards based summary : Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome, also known as leukoencephalopathy-metaphyseal chondrodysplasia syndrome, is related to spondyloepimetaphyseal dysplasia, strudwick type and ataxia and polyneuropathy, adult-onset. An important gene associated with Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1). Affiliated tissues include bone, skin and endothelial, and related phenotypes are metaphyseal chondrodysplasia and leukoencephalopathy

Related Diseases for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

Diseases related to Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia, strudwick type 10.1
2 ataxia and polyneuropathy, adult-onset 10.1
3 alacrima, achalasia, and mental retardation syndrome 10.1
4 pulmonary hypertension 10.1
5 hypomyelinating leukodystrophy 10.1
6 leukodystrophy 10.1
7 pathologic nystagmus 10.1
8 spasticity 10.1
9 tremor 10.1

Graphical network of the top 20 diseases related to Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome:



Diseases related to Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

Symptoms & Phenotypes for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

Human phenotypes related to Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 metaphyseal chondrodysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005871
2 leukoencephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002352
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
5 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
6 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
7 reduced bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004349
8 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
9 toe walking 59 32 frequent (33%) Frequent (79-30%) HP:0040083
10 spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0001258
11 abnormal brainstem mri signal intensity 59 32 frequent (33%) Frequent (79-30%) HP:0012747
12 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
13 cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002059
14 abnormality of the optic nerve 59 32 frequent (33%) Frequent (79-30%) HP:0000587
15 enlargement of the wrists 59 32 frequent (33%) Frequent (79-30%) HP:0003020
16 morphological abnormality of the pyramidal tract 59 32 frequent (33%) Frequent (79-30%) HP:0002062
17 large knee 59 32 frequent (33%) Frequent (79-30%) HP:0030866
18 abnormality of the astrocytes 59 32 frequent (33%) Frequent (79-30%) HP:0100707
19 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
20 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
21 midface retrusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0011800
22 horizontal nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000666
23 gait disturbance 59 Frequent (79-30%)

Drugs & Therapeutics for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

Search Clinical Trials , NIH Clinical Center for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

Genetic Tests for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

Anatomical Context for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

MalaCards organs/tissues related to Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome:

41
Bone, Skin, Endothelial, Monocytes

Publications for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

Articles related to Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome:

(show all 29)
# Title Authors PMID Year
1
The efficacy of fascia iliaca compartment block for pain control after hip fracture: A meta-analysis. 38
31305398 2019
2
The efficacy of fascia iliaca compartment block for pain control after hip arthroplasty: A meta-analysis. 38
30685517 2019
3
Procalcitonin as a prognostic marker for outcomes in post-cardiac arrest patients: A systematic review and meta-analysis. 38
30872069 2019
4
Comparison of the postoperative effect between epidural anesthesia and continuous wound infiltration on patients with open surgeries: A meta-analysis. 38
30064083 2018
5
Commercially available compression garments or electrical stimulation do not enhance recovery following a sprint competition in elite cross-country skiers. 38
29924696 2018
6
The role of sciatic nerve block to complement femoral nerve block in total knee arthroplasty: a meta-analysis of randomized controlled trials. 38
29520522 2018
7
Remote Ischemic Preconditioning has a Cardioprotective Effect in Children in the Early Postoperative Phase: A Meta-Analysis of Randomized Controlled Trials. 38
29302715 2018
8
Systematic review and meta-analysis of the efficacy of liposomal bupivacaine in colorectal resections. 38
29988796 2018
9
Preoperative flurbiprofen axetil administration for acute postoperative pain: a meta-analysis of randomized controlled trials. 38
28936554 2017
10
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. 38
28842795 2017
11
Kinetics of plasma von Willebrand factor in acute myocardial infarction patients: a meta-analysis. 38
29163836 2017
12
Comparison of local infiltration analgesia and sciatic nerve block for pain control after total knee arthroplasty: a systematic review and meta-analysis. 38
28592324 2017
13
Comparison of peri-articular liposomal bupivacaine and standard bupivacaine for postsurgical analgesia in total knee arthroplasty: A systematic review and meta-analysis. 38
28192247 2017
14
Comparison of surgical effect and postoperative patient experience between laparoendoscopic single-site and conventional laparoscopic varicocelectomy: a systematic review and meta-analysis. 38
27212128 2017
15
Vascular endothelial growth factor levels in patients with obstructive sleep apnea: a meta-analysis. 38
27236786 2017
16
Massage Alleviates Delayed Onset Muscle Soreness after Strenuous Exercise: A Systematic Review and Meta-Analysis. 38
29021762 2017
17
One-port video-assisted thoracic surgery versus three-port video-assisted thoracic surgery for primary spontaneous pneumothorax: a meta-analysis. 38
27129545 2017
18
The effect of pregabalin on acute postoperative pain in patients undergoing total knee arthroplasty: A meta-analysis. 38
27573693 2016
19
Analgesic efficacy and quadriceps strength of adductor canal block versus femoral nerve block following total knee arthroplasty. 38
26611901 2016
20
The efficacy of preoperative administration of gabapentin/pregabalin in improving pain after total hip arthroplasty: a meta-analysis. 38
27577678 2016
21
Effect of perioperative dexamethasone on subjective voice quality after thyroidectomy: a meta-analysis and systematic review. 38
26545607 2015
22
Uniportal versus three-port video-assisted thoracoscopic surgery for spontaneous pneumothorax: a meta-analysis. 38
26793349 2015
23
Carbon dioxide insufflation vs conventional air insufflation for colonoscopy: a systematic review and meta-analysis of published randomized controlled trials. 38
25393051 2015
24
Local anaesthetic wound infiltration used for caesarean section pain relief: a meta-analysis. 38
26309720 2015
25
Effects of green tea or green tea extract on insulin sensitivity and glycaemic control in populations at risk of type 2 diabetes mellitus: a systematic review and meta-analysis of randomised controlled trials. 38
24206044 2014
26
Opioid-induced hyperalgesia in patients after surgery: a systematic review and a meta-analysis. 38
24829420 2014
27
The efficacy and safety of mirabegron in treating OAB: a systematic review and meta-analysis of phase III trials. 38
23896942 2014
28
Skin permeation and metabolism of a new antipsoriatic vitamin D(3) analogue of structure 16-en-22-oxa-24-carboalkoxide with low calcemic effect. 38
18093764 2008
29
Colonial morphotype as a determinant of cytokine expression by human monocytes infected with Mycobacterium avium. 38
8454866 1993

Variations for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

Expression for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

Search GEO for disease gene expression data for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome.

Pathways for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

GO Terms for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

Sources for Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome

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73 UMLS via Orphanet
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