SEMDHL
MCID: SPN438
MIFTS: 36

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

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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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 57 73 38
Leukoencephalopathy-Metaphyseal Chondrodysplasia Syndrome 19 58
Leukoencephalopathy with Metaphyseal Chondrodysplasia 57 71
Semdhl 57 73
H-Smd 19 58
X-Linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy 19
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome 58
Leukoencephalopathy-Spondylometaphyseal Dysplasia Syndrome 19
Hypomyelination-Spondyloepimetaphyseal Dysplasia Syndrome 58
Hypomyelination-Spondylometaphyseal Dysplasia Syndrome 19
Semd, X-Linked, with Mental Deterioration 57
Semd X-Linked with Mental Deterioration 5
Leukoencephalopathy-Semd Syndrome 58
Lkmcd 57

Characteristics:


Inheritance:

Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy: X-linked recessive 57
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome: X-linked recessive 58

Prevelance:

Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome: Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
slowly progressive
onset in early childhood
normal development in first 6-12 months
death from respiratory failure often occurs


HPO:

30
spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy:
Onset and clinical course slowly progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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

GARD: 19 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).

MalaCards based summary: Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy, also known as leukoencephalopathy-metaphyseal chondrodysplasia syndrome, is related to hypomyelinating leukodystrophy and leukodystrophy, and has symptoms including fine tremor and unspecified visual loss. An important gene associated with Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1). Affiliated tissues include bone, brain and monocytes, and related phenotypes are leukoencephalopathy and metaphyseal chondrodysplasia

OMIM®: 57 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) (Updated 08-Dec-2022)

Orphanet: 58 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.

UniProtKB/Swiss-Prot: 73 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.

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

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 30 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 leukoencephalopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002352
2 metaphyseal chondrodysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005871
3 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
4 hyperreflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001347
5 tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0001337
6 visual impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000505
7 reduced bone mineral density 58 30 Frequent (33%) Frequent (79-30%)
HP:0004349
8 spastic paraplegia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001258
9 babinski sign 58 30 Frequent (33%) Frequent (79-30%)
HP:0003487
10 cerebral atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0002059
11 hypoplasia of the corpus callosum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002079
12 abnormality of the optic nerve 58 30 Frequent (33%) Frequent (79-30%)
HP:0000587
13 abnormal brainstem mri signal intensity 58 30 Frequent (33%) Frequent (79-30%)
HP:0012747
14 enlargement of the wrists 58 30 Frequent (33%) Frequent (79-30%)
HP:0003020
15 morphological abnormality of the pyramidal tract 58 30 Frequent (33%) Frequent (79-30%)
HP:0002062
16 large knee 58 30 Frequent (33%) Frequent (79-30%)
HP:0030866
17 abnormal astrocyte morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0100707
18 tip-toe gait 30 Frequent (33%) HP:0030051
19 depressed nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005280
20 anteverted nares 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000463
21 midface retrusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011800
22 horizontal nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000666
23 gait disturbance 58 30 Frequent (79-30%)
HP:0001288
24 seizure 30 HP:0001250
25 high palate 30 HP:0000218
26 short neck 30 HP:0000470
27 coarse facial features 30 HP:0000280
28 delayed skeletal maturation 30 HP:0002750
29 hypertelorism 30 HP:0000316
30 thick eyebrow 30 HP:0000574
31 short stature 30 HP:0004322
32 flexion contracture 30 HP:0001371
33 low-set ears 30 HP:0000369
34 toe walking 58 Frequent (79-30%)
35 brachydactyly 30 HP:0001156
36 platyspondyly 30 HP:0000926
37 low anterior hairline 30 HP:0000294
38 malar flattening 30 HP:0000272
39 intellectual disability, progressive 30 HP:0006887
40 wormian bones 30 HP:0002645
41 coxa vara 30 HP:0002812
42 short finger 30 HP:0009381
43 optic disc pallor 30 HP:0000543
44 broad foot 30 HP:0001769
45 broad palm 30 HP:0001169
46 prominent sternum 30 HP:0000884
47 thin ribs 30 HP:0000883
48 broad nasal tip 30 HP:0000455
49 abnormal cerebral white matter morphology 30 HP:0002500
50 visual loss 30 HP:0000572

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hyperreflexia
ataxia
dysarthria
developmental regression
spastic paraplegia
more
Head And Neck Eyes:
nystagmus
hypertelorism
optic atrophy
loss of vision
pale optic discs
more
Skeletal:
osteopenia
metaphyseal chondrodysplasia
enlarged joints
spondyloepimetaphyseal dysplasia
delayed bone age
more
Respiratory:
respiratory insufficiency
tracheostomy
mechanical ventilation

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
narrow chest
prominent sternum
thin ribs
short ribs
more
Head And Neck Ears:
low-set ears
hearing impairment (in some patients)

Skeletal Feet:
brachydactyly
large, broad feet

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

Skeletal Spine:
scoliosis
platyspondyly
vertebral body abnormalities
odontoid hypoplasia
exaggerated thoracic kyphosis

Head And Neck Neck:
short neck

Muscle Soft Tissue:
hypotonia
hypertonia
muscle atrophy

Head And Neck Nose:
depressed nasal bridge
anteverted nares
broad nasal tip

Growth Height:
short stature

Skeletal Hands:
brachydactyly
clinodactyly
small hands
coned epiphyses
large, broad hands
more
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 (Updated 08-Dec-2022)

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


fine tremor; unspecified visual loss

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...

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

MalaCards : Bone, Brain, Monocytes, Endothelial, Breast, Skin

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

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

(show top 50) (show all 65)
# Title Authors PMID Year
1
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. 62 57 5
28842795 2017
2
A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27. 62 57 5
16924009 2006
3
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. 57 5
27102849 2017
4
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia. 57 5
23239615 2013
5
Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation. 57 5
10486082 1999
6
The Analgesic Efficacy of Intraperitoneal Ropivacaine Versus Bupivacaine for Laparoscopic Cholecystectomy: a Meta-Analysis. 62
36470288 2022
7
Intra-arterial lidocaine for pain control after uterine artery embolization: a meta-analysis of randomized controlled trials. 62
33172315 2022
8
Pregabalin supplementation for the pain relief of septorhinoplasty: a meta-analysis study. 62
36048296 2022
9
Curative effect of different drainage methods on laparoscopic inguinal hernia repair: A meta-analysis. 62
36042617 2022
10
A systematic review of the anxiety-alleviation benefits of exposure to the natural environment. 62
35334194 2022
11
Analgesic comparison between perineural and intravenous dexamethasone for shoulder arthroscopy: a meta-analysis of randomized controlled trials. 62
35177116 2022
12
Ultrasound-Guided Posterior Quadratus Lumborum Block for Acute Postoperative Analgesia in Adult Patients: A Meta-Analysis of Randomized Controlled Trials. 62
35378766 2022
13
Efficacy and Safety of Transcutaneous Electrical Acupoint Stimulation for Postoperative Pain: A Meta-Analysis of Randomized Controlled Trials. 62
35463630 2022
14
Evaluation of Melatonin Therapy in Patients with Myocardial Ischemia-Reperfusion Injury: A Systematic Review and Meta-Analysis. 62
35281465 2022
15
Postoperative analgesia efficacy of erector spinae plane block in adult abdominal surgery: A systematic review and meta-analysis of randomized trials. 62
36267624 2022
16
Impact of intraoperative intravenous magnesium on spine surgery: A systematic review and meta-analysis of randomized controlled trials. 62
35028543 2022
17
Ropivacaine versus lidocaine infiltration for postpartum perineal pain: A systematic review and meta-analysis. 62
33515853 2021
18
Effects of erector spinae plane block on postoperative pain in children undergoing surgery: A systematic review and meta-analysis of randomized controlled trials. 62
34270146 2021
19
Intraoperative local injection of uterosacral ligaments with ropivacaine during uterine surgery: A systematic review and meta-analysis of randomized controlled trials. 62
33548576 2021
20
Effect of Polyphenol-Rich Foods, Juices, and Concentrates on Recovery from Exercise Induced Muscle Damage: A Systematic Review and Meta-Analysis. 62
34578866 2021
21
The analgesic evaluation of gabapentin for arthroscopy: A meta-analysis of randomized controlled trials. 62
34011032 2021
22
The comparison of ketamine with tramadol for postoperative pain relief on children following adenotonsillectomy or tonsillectomy: A meta-analysis of randomized controlled trials. 62
33832058 2021
23
The Efficacy of Acetominophen for Total Laparoscopic Hysterectomy. 62
34248331 2021
24
Effects of antibiotic administration on post-operative endodontic symptoms in patients with pulpal necrosis: A systematic review and meta-analysis. 62
32681652 2021
25
Heat and cold therapy reduce pain in patients with delayed onset muscle soreness: A systematic review and meta-analysis of 32 randomized controlled trials. 62
33493991 2021
26
A meta-analysis of marsupialisation versus none in the treatment of simple fistula-in-ano. 62
33051699 2021
27
Perioperative intravenous S-ketamine for acute postoperative pain in adults: A systematic review and meta-analysis. 62
33007645 2021
28
Efficacy of Intercostal Nerve Block for Pain Control After Percutaneous Nephrolithotomy: A Systematic Review and Meta-Analysis. 62
33585552 2021
29
Dexmedetomidine Versus Propofol for Patients With Sepsis Requiring Mechanical Ventilation: A Systematic Review and Meta-Analysis. 62
34721015 2021
30
Efficacy of Ultrasound-Guided Serratus Anterior Plane Block for Postoperative Analgesia in Patients Undergoing Breast Surgery: A Systematic Review and Meta-Analysis of Randomised Controlled Trials. 62
34733377 2021
31
Electroacupuncture for Gastrointestinal Function Recovery after Gynecological Surgery: A Systematic Review and Meta-Analysis. 62
34970326 2021
32
Dexmedetomidine as an adjunct to local anesthetics in nerve block relieved pain more effectively after TKA: a meta-analysis of randomized controlled trials. 62
33261646 2020
33
Effects of vitamin C on oxidative stress, inflammation, muscle soreness, and strength following acute exercise: meta-analyses of randomized clinical trials. 62
32162041 2020
34
Efficacy of single and repeated administration of ketamine in unipolar and bipolar depression: a meta-analysis of randomized clinical trials. 62
32301056 2020
35
The serratus anterior plane block for analgesia after thoracic surgery: A meta-analysis of randomized controlled trails. 62
32481308 2020
36
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. 62
31823338 2020
37
Effect of preoperative administration of systemic alpha-2 agonists on postoperative pain: a systematic review and meta-analysis. 62
33329808 2020
38
The efficacy of continuous versus single-injection femoral nerve block in Total knee Arthroplasty: a systematic review and meta-analysis. 62
32093655 2020
39
DNA Damage Following Acute Aerobic Exercise: A Systematic Review and Meta-analysis. 62
31529301 2020
40
The efficacy of fascia iliaca compartment block for pain control after hip fracture: A meta-analysis. 62
31305398 2019
41
Procalcitonin as a prognostic marker for outcomes in post-cardiac arrest patients: A systematic review and meta-analysis. 62
30872069 2019
42
Commercially available compression garments or electrical stimulation do not enhance recovery following a sprint competition in elite cross-country skiers. 62
29924696 2018
43
The role of sciatic nerve block to complement femoral nerve block in total knee arthroplasty: a meta-analysis of randomized controlled trials. 62
29520522 2018
44
Remote Ischemic Preconditioning has a Cardioprotective Effect in Children in the Early Postoperative Phase: A Meta-Analysis of Randomized Controlled Trials. 62
29302715 2018
45
Systematic review and meta-analysis of the efficacy of liposomal bupivacaine in colorectal resections. 62
29988796 2018
46
Preoperative flurbiprofen axetil administration for acute postoperative pain: a meta-analysis of randomized controlled trials. 62
28936554 2017
47
Kinetics of plasma von Willebrand factor in acute myocardial infarction patients: a meta-analysis. 62
29163836 2017
48
Comparison of local infiltration analgesia and sciatic nerve block for pain control after total knee arthroplasty: a systematic review and meta-analysis. 62
28592324 2017
49
Comparison of surgical effect and postoperative patient experience between laparoendoscopic single-site and conventional laparoscopic varicocelectomy: a systematic review and meta-analysis. 62
27212128 2017
50
Comparison of peri-articular liposomal bupivacaine and standard bupivacaine for postsurgical analgesia in total knee arthroplasty: A systematic review and meta-analysis. 62
28192247 2017

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

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAB33A, AIFM1 NM_004208.4(AIFM1):c.710A>G (p.Asp237Gly) SNV Pathogenic
694665 rs1202786652 GRCh37: X:129274579-129274579
GRCh38: X:130140604-130140604
2 RAB33A, AIFM1 NM_004208.4(AIFM1):c.705G>C (p.Gln235His) SNV Pathogenic
694667 rs377527583 GRCh37: X:129274584-129274584
GRCh38: X:130140609-130140609
3 RAB33A, AIFM1 NM_004208.4(AIFM1):c.697-44T>G SNV Pathogenic
694668 rs1603225182 GRCh37: X:129274636-129274636
GRCh38: X:130140661-130140661
4 RAB33A, AIFM1 NM_004208.4(AIFM1):c.720C>T (p.Asp240=) SNV Pathogenic
598756 rs1569418673 GRCh37: X:129274569-129274569
GRCh38: X:130140594-130140594
5 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val) SNV Likely Pathogenic
373913 rs761953453 GRCh37: X:129264069-129264069
GRCh38: X:130130094-130130094
6 RAB33A, AIFM1 NM_004208.4(AIFM1):c.1770+12T>C SNV Uncertain Significance
932022 rs781186692 GRCh37: X:129263933-129263933
GRCh38: X:130129958-130129958
7 RAB33A, AIFM1 NM_004208.4(AIFM1):c.760G>A (p.Glu254Lys) SNV Uncertain Significance
1327116 GRCh37: X:129274529-129274529
GRCh38: X:130140554-130140554
8 RAB33A, AIFM1 NM_004208.4(AIFM1):c.273T>C (p.Asp91=) SNV Benign
367892 rs1139851 GRCh37: X:129283520-129283520
GRCh38: X:130149545-130149545

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy:

73
# Symbol AA change Variation ID SNP ID
1 AIFM1 p.Gln235His VAR_083739 rs377527583
2 AIFM1 p.Asp237Gly VAR_083740 rs1202786652
3 AIFM1 p.Asp237Val VAR_083741 rs1202786652

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...

2 CDC
6 CNVD
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10 DGIdb
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29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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44 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
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72 UMLS via Orphanet
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