SEMDHL
MCID: SPN438
MIFTS: 34

Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy (SEMDHL)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:

Name: Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy 56 6
Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome 52 58
Leukoencephalopathy-Metaphyseal Chondrodysplasia Syndrome 52 58
Hypomyelination-Spondylometaphyseal Dysplasia Syndrome 52 58
H-Smd 52 58
Leukoencephalopathy with Metaphyseal Chondrodysplasia; Lkmcd; Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration 56
X-Linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 52
Leukoencephalopathy with Metaphyseal Chondrodysplasia 56
Semd, X-Linked, with Mental Deterioration 56
Semdhl 56
Lkmcd 56

Characteristics:

Orphanet epidemiological data:

58
leukoencephalopathy-spondylometaphyseal dysplasia syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Miscellaneous:
slowly progressive
onset in early childhood
normal development in first 6-12 months
death from respiratory failure often occurs

Inheritance:
x-linked recessive


HPO:

31
spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 83629 Definition A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity , ataxia , proximal weakness, and joint contractures . Additional manifestations include mild cognitive impairment, short stature , scoliosis , enlarged and deformed joints, dysarthria , nystagmus , visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive . Visit the Orphanet disease page for more resources.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy, also known as leukoencephalopathy-spondylometaphyseal dysplasia syndrome, is related to hypomyelinating leukodystrophy and 3-methylglutaconic aciduria, type iii. An important gene associated with Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1). Affiliated tissues include brain, bone and skin, and related phenotypes are metaphyseal chondrodysplasia and leukoencephalopathy

OMIM : 56 X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by Miyake et al., 2017). (300232)

Related Diseases for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 hypomyelinating leukodystrophy 29.3 RAB33A AIFM1
2 3-methylglutaconic aciduria, type iii 10.2
3 ataxia and polyneuropathy, adult-onset 10.2
4 paraplegia 10.2
5 tremor 10.2
6 spondyloepimetaphyseal dysplasia, strudwick type 10.1
7 alacrima, achalasia, and mental retardation syndrome 10.1
8 pulmonary hypertension 10.1
9 leukodystrophy 10.1
10 pathologic nystagmus 10.1
11 spasticity 10.1
12 spondyloepimetaphyseal dysplasia, x-linked 9.5 RAB33A AIFM1
13 combined oxidative phosphorylation deficiency 6 9.2 RAB33A AIFM1

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:



Diseases related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:

58 31 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 metaphyseal chondrodysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005871
2 leukoencephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002352
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
5 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
6 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
7 reduced bone mineral density 58 31 frequent (33%) Frequent (79-30%) HP:0004349
8 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
9 toe walking 58 31 frequent (33%) Frequent (79-30%) HP:0040083
10 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
11 spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001258
12 abnormal brainstem mri signal intensity 58 31 frequent (33%) Frequent (79-30%) HP:0012747
13 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
14 abnormality of the optic nerve 58 31 frequent (33%) Frequent (79-30%) HP:0000587
15 enlargement of the wrists 58 31 frequent (33%) Frequent (79-30%) HP:0003020
16 morphological abnormality of the pyramidal tract 58 31 frequent (33%) Frequent (79-30%) HP:0002062
17 large knee 58 31 frequent (33%) Frequent (79-30%) HP:0030866
18 abnormality of the astrocytes 58 31 frequent (33%) Frequent (79-30%) HP:0100707
19 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
20 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
21 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
22 horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000666
23 malar flattening 31 HP:0000272
24 hypertelorism 31 HP:0000316
25 low-set ears 31 HP:0000369
26 short neck 31 HP:0000470
27 seizures 31 HP:0001250
28 gait disturbance 58 Frequent (79-30%)
29 high palate 31 HP:0000218
30 coarse facial features 31 HP:0000280
31 delayed skeletal maturation 31 HP:0002750
32 brachydactyly 31 HP:0001156
33 short stature 31 HP:0004322
34 thick eyebrow 31 HP:0000574
35 flexion contracture 31 HP:0001371
36 broad nasal tip 31 HP:0000455
37 platyspondyly 31 HP:0000926
38 wormian bones 31 HP:0002645
39 intellectual disability, progressive 31 HP:0006887
40 thin ribs 31 HP:0000883
41 metaphyseal cupping of metacarpals 31 HP:0006028
42 flattened epiphysis 31 HP:0003071
43 low anterior hairline 31 HP:0000294
44 thoracic kyphosis 31 HP:0002942
45 optic disc pallor 31 HP:0000543
46 coxa vara 31 HP:0002812
47 short finger 31 HP:0009381
48 broad foot 31 HP:0001769
49 broad palm 31 HP:0001169
50 hypoplasia of the odontoid process 31 HP:0003311

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
nystagmus
optic atrophy
pale optic discs
loss of vision
more
Head And Neck Neck:
short neck

Neurologic Central Nervous System:
hyperreflexia
ataxia
dysarthria
developmental regression
poor speech
more
Skeletal:
osteopenia
metaphyseal chondrodysplasia
enlarged joints
spondyloepimetaphyseal dysplasia
delayed bone age
more
Head And Neck Nose:
depressed nasal bridge
anteverted nares
broad nasal tip

Skeletal Feet:
brachydactyly
large, broad feet

Muscle Soft Tissue:
hypertonia
hypotonia
muscle atrophy

Skeletal Pelvis:
coxa vara
flared iliac wings
short, hypoplastic femoral necks
cone-shaped capital femoral epiphyses
flat acetabula
more
Head And Neck Face:
midface hypoplasia
low frontal hairline
coarse facies
long smooth philtrum

Head And Neck Mouth:
high-arched palate

Head And Neck Ears:
low-set ears
hearing impairment (in some patients)

Skeletal Hands:
clinodactyly
brachydactyly
small hands
coned epiphyses
large, broad hands
more
Skeletal Spine:
scoliosis
platyspondyly
vertebral body abnormalities
odontoid hypoplasia
exaggerated thoracic kyphosis

Respiratory:
respiratory insufficiency
tracheostomy
mechanical ventilation

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
narrow chest
thin ribs
prominent sternum
short ribs
more
Growth Height:
short stature

Skeletal Skull:
wormian bones

Skeletal Limbs:
peg-like central prominence of distal tibial metaphyses
widened metaphyses
small flattened epiphyses (distal femora and proximal tibiae)
epiphyseal sclerosis
broad knees
more
Skin Nails Hair Hair:
low frontal hairline
prominent eyebrows

Growth Other:
poor overall growth

Clinical features from OMIM:

300232

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy

Genetic Tests for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Anatomical Context for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:

40
Brain, Bone, Skin, Monocytes, Endothelial, Eye

Publications for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Articles related to Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:

(show all 35)
# Title Authors PMID Year
1
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. 61 56 6
28842795 2017
2
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. 56 6
27102849 2017
3
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia. 56 6
23239615 2013
4
A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27. 56 6
16924009 2006
5
Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation. 56 6
10486082 1999
6
DNA Damage Following Acute Aerobic Exercise: A Systematic Review and Meta-analysis. 61
31529301 2020
7
What are the Benefits and Risks Associated with Changing Foot Strike Pattern During Running? A Systematic Review and Meta-analysis of Injury, Running Economy, and Biomechanics. 61
31823338 2019
8
The efficacy of fascia iliaca compartment block for pain control after hip fracture: A meta-analysis. 61
31305398 2019
9
The efficacy of fascia iliaca compartment block for pain control after hip arthroplasty: A meta-analysis. 61
30685517 2019
10
Procalcitonin as a prognostic marker for outcomes in post-cardiac arrest patients: A systematic review and meta-analysis. 61
30872069 2019
11
Comparison of the postoperative effect between epidural anesthesia and continuous wound infiltration on patients with open surgeries: A meta-analysis. 61
30064083 2018
12
Commercially available compression garments or electrical stimulation do not enhance recovery following a sprint competition in elite cross-country skiers. 61
29924696 2018
13
The role of sciatic nerve block to complement femoral nerve block in total knee arthroplasty: a meta-analysis of randomized controlled trials. 61
29520522 2018
14
Remote Ischemic Preconditioning has a Cardioprotective Effect in Children in the Early Postoperative Phase: A Meta-Analysis of Randomized Controlled Trials. 61
29302715 2018
15
Systematic review and meta-analysis of the efficacy of liposomal bupivacaine in colorectal resections. 61
29988796 2018
16
Preoperative flurbiprofen axetil administration for acute postoperative pain: a meta-analysis of randomized controlled trials. 61
28936554 2017
17
Kinetics of plasma von Willebrand factor in acute myocardial infarction patients: a meta-analysis. 61
29163836 2017
18
Comparison of local infiltration analgesia and sciatic nerve block for pain control after total knee arthroplasty: a systematic review and meta-analysis. 61
28592324 2017
19
Comparison of peri-articular liposomal bupivacaine and standard bupivacaine for postsurgical analgesia in total knee arthroplasty: A systematic review and meta-analysis. 61
28192247 2017
20
Comparison of surgical effect and postoperative patient experience between laparoendoscopic single-site and conventional laparoscopic varicocelectomy: a systematic review and meta-analysis. 61
27212128 2017
21
Vascular endothelial growth factor levels in patients with obstructive sleep apnea: a meta-analysis. 61
27236786 2017
22
Massage Alleviates Delayed Onset Muscle Soreness after Strenuous Exercise: A Systematic Review and Meta-Analysis. 61
29021762 2017
23
One-port video-assisted thoracic surgery versus three-port video-assisted thoracic surgery for primary spontaneous pneumothorax: a meta-analysis. 61
27129545 2017
24
The effect of pregabalin on acute postoperative pain in patients undergoing total knee arthroplasty: A meta-analysis. 61
27573693 2016
25
The efficacy of preoperative administration of gabapentin/pregabalin in improving pain after total hip arthroplasty: a meta-analysis. 61
27577678 2016
26
Analgesic efficacy and quadriceps strength of adductor canal block versus femoral nerve block following total knee arthroplasty. 61
26611901 2016
27
Uniportal versus three-port video-assisted thoracoscopic surgery for spontaneous pneumothorax: a meta-analysis. 61
26793349 2015
28
Effect of perioperative dexamethasone on subjective voice quality after thyroidectomy: a meta-analysis and systematic review. 61
26545607 2015
29
Carbon dioxide insufflation vs conventional air insufflation for colonoscopy: a systematic review and meta-analysis of published randomized controlled trials. 61
25393051 2015
30
Local anaesthetic wound infiltration used for caesarean section pain relief: a meta-analysis. 61
26309720 2015
31
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. 61
24206044 2014
32
Opioid-induced hyperalgesia in patients after surgery: a systematic review and a meta-analysis. 61
24829420 2014
33
The efficacy and safety of mirabegron in treating OAB: a systematic review and meta-analysis of phase III trials. 61
23896942 2014
34
Skin permeation and metabolism of a new antipsoriatic vitamin D(3) analogue of structure 16-en-22-oxa-24-carboalkoxide with low calcemic effect. 61
18093764 2008
35
Colonial morphotype as a determinant of cytokine expression by human monocytes infected with Mycobacterium avium. 61
8454866 1993

Variations for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AIFM1 NM_004208.4(AIFM1):c.710A>G (p.Asp237Gly)SNV Pathogenic 694665 X:129274579-129274579 X:130140604-130140604
2 AIFM1 NM_004208.4(AIFM1):c.705G>C (p.Gln235His)SNV Pathogenic 694667 X:129274584-129274584 X:130140609-130140609
3 AIFM1 NM_004208.4(AIFM1):c.697-44T>GSNV Pathogenic 694668 X:129274636-129274636 X:130140661-130140661
4 AIFM1 NM_004208.4(AIFM1):c.720C>T (p.Asp240=)SNV Uncertain significance 598756 rs1569418673 X:129274569-129274569 X:130140594-130140594

Expression for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy.

Pathways for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

GO Terms for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

Sources for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating...

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
Content
Loading form....