SMDS
MCID: SPN362
MIFTS: 42

Spondylometaphyseal Dysplasia, Sedaghatian Type (SMDS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Spondylometaphyseal Dysplasia, Sedaghatian Type

MalaCards integrated aliases for Spondylometaphyseal Dysplasia, Sedaghatian Type:

Name: Spondylometaphyseal Dysplasia, Sedaghatian Type 57 58 72 36 29 6 70
Sedaghatian Chondrodysplasia 57 72
Smds 57 72
Metaphyseal Chondrodysplasia, Congenital Lethal 57
Spondylometaphyseal Dysplasia Sedaghatian Type 20
Congenital Lethal Metaphyseal Chondrodysplasia 72
Lethal Metaphyseal Dysplasia 20

Characteristics:

Orphanet epidemiological data:

58
spondylometaphyseal dysplasia, sedaghatian type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in perinatal period


HPO:

31
spondylometaphyseal dysplasia, sedaghatian type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 250220
OMIM Phenotypic Series 57 PS184255
KEGG 36 H01825
MeSH 44 D010009
MESH via Orphanet 45 C535798
ICD10 via Orphanet 33 Q77.8
UMLS via Orphanet 71 C1855229
Orphanet 58 ORPHA93317
MedGen 41 C1855229
UMLS 70 C1855229

Summaries for Spondylometaphyseal Dysplasia, Sedaghatian Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93317 Definition Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly. Epidemiology Nine cases have been reported so far in patients of Iranian, Yemeni and Caucasian origin. Clinical description A lacy appearance of the iliac crests, long fibulae, abnormal tarsal bones, cardiac arrhythmia, and intracranial anomalies have been described. Intrauterine growth is normal. The majority of patients die in the first days of life with symptoms of cardiorespiratory insufficiency. Subacute myocarditis, cortical necrosis of kidneys, adrenal and pulmonary hemorrhage, absence of the corpus callosum and marked frontotemporal pachygyria have been found at autopsy. Etiology Etiology remains unknown. Genetic counseling Autosomal recessive inheritance has been suggested.

MalaCards based summary : Spondylometaphyseal Dysplasia, Sedaghatian Type, also known as sedaghatian chondrodysplasia, is related to opsismodysplasia and spondylometaphyseal dysplasia with cone-rod dystrophy. An important gene associated with Spondylometaphyseal Dysplasia, Sedaghatian Type is GPX4 (Glutathione Peroxidase 4). The drugs Miconazole and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and breast, and related phenotypes are delayed skeletal maturation and atrioventricular block

OMIM® : 57 Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014). (250220) (Updated 05-Apr-2021)

KEGG : 36 Sedaghatian type spondylometaphyseal dysplasia (SMDS) is a rare type of lethal congenital severe spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary haemorrhage. Most of the patients had been reported to have a short life span, and died shortly after birth due to respiratory failure. Half of infants with SMDS are reported to have central nervous system (CNS) malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia. It has been reported that recessive truncating mutations in the GPX4 gene are the cause of SMDS.

UniProtKB/Swiss-Prot : 72 Spondylometaphyseal dysplasia, Sedaghatian type: A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities.

Related Diseases for Spondylometaphyseal Dysplasia, Sedaghatian Type

Diseases related to Spondylometaphyseal Dysplasia, Sedaghatian Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 opsismodysplasia 11.3
2 spondylometaphyseal dysplasia with cone-rod dystrophy 11.1
3 spondyloepimetaphyseal dysplasia, strudwick type 10.6
4 cardiac arrhythmia 10.4
5 autosomal recessive disease 10.2
6 myocarditis 10.2
7 isolated oxycephaly 10.2
8 metaphyseal dysplasia 10.2
9 microphthalmia 10.2
10 leukemia, acute myeloid 10.0
11 myelodysplastic syndrome 10.0
12 lymphoma, hodgkin, classic 9.9
13 lymphoma, non-hodgkin, familial 9.9
14 coronary heart disease 1 9.9
15 aplastic anemia 9.9
16 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
17 deficiency anemia 9.9
18 myeloid leukemia 9.9
19 chromosomal triplication 9.9

Graphical network of the top 20 diseases related to Spondylometaphyseal Dysplasia, Sedaghatian Type:



Diseases related to Spondylometaphyseal Dysplasia, Sedaghatian Type

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, Sedaghatian Type

Human phenotypes related to Spondylometaphyseal Dysplasia, Sedaghatian Type:

58 31 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 atrioventricular block 58 31 hallmark (90%) Very frequent (99-80%) HP:0001678
3 arrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011675
4 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
5 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
6 short metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010049
7 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
8 long fibula 58 31 hallmark (90%) Very frequent (99-80%) HP:0003085
9 metaphyseal chondrodysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005871
10 spondylometaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002657
11 rhizomelic arm shortening 58 31 hallmark (90%) Very frequent (99-80%) HP:0004991
12 cardiorespiratory arrest 58 31 hallmark (90%) Very frequent (99-80%) HP:0006543
13 iliac crest serration 58 31 hallmark (90%) Very frequent (99-80%) HP:0008786
14 abnormal scapula morphology 31 hallmark (90%) HP:0000782
15 turricephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000262
16 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
17 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
18 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
19 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
20 myocarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012819
21 accelerated skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005616
22 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
23 cone-shaped epiphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010579
24 short neck 31 HP:0000470
25 respiratory insufficiency 58 Frequent (79-30%)
26 depressed nasal bridge 31 HP:0005280
27 atrial septal defect 31 HP:0001631
28 short toe 31 HP:0001831
29 talipes equinovarus 31 HP:0001762
30 brachydactyly 31 HP:0001156
31 redundant skin 31 HP:0001582
32 short finger 31 HP:0009381
33 disproportionate short stature 58 Very frequent (99-80%)
34 posteriorly rotated ears 31 HP:0000358
35 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
36 rhizomelia 31 HP:0008905
37 short phalanx of finger 31 HP:0009803
38 large posterior fontanelle 31 HP:0004491
39 11 pairs of ribs 31 HP:0000878
40 short long bone 31 HP:0003026
41 flared iliac wings 31 HP:0002869
42 cone-shaped metacarpal epiphyses 31 HP:0006059
43 short ribs 31 HP:0000773
44 flat acetabular roof 31 HP:0003180
45 abnormality of the scapula 58 Very frequent (99-80%)
46 metaphyseal cupping 31 HP:0003021
47 metaphyseal irregularity 31 HP:0003025
48 cupped ribs 31 HP:0000887
49 delayed epiphyseal ossification 31 HP:0002663
50 porencephalic cyst 31 HP:0002132

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck

Cardiovascular Heart:
atrial septal defect
cardiac arrhythmia
subacute myocarditis

Skeletal Feet:
brachydactyly
irregular tarsal bones
clubfeet

Head And Neck Head:
turricephaly
large posterior fontanel

Neurologic Central Nervous System:
porencephaly
hypotonia
focal lissencephaly

Skeletal Pelvis:
flared iliac wings
horizontal acetabular roof
small sacrosciatic notches
irregular lacy iliac crest
medial and lateral spur
more
Skeletal:
spondylometaphyseal dysplasia

Growth Height:
short stature, disproportionate

Skeletal Skull:
disproportionately small occipital bone

Head And Neck Nose:
depressed nasal bridge
flat nasal bridge

Skeletal Hands:
brachydactyly
short metacarpals
short phalanges
phalangeal cone-shaped epiphyses
metacarpal cone-shaped epiphyses

Skeletal Spine:
platyspondyly

Head And Neck Ears:
posteriorly rotated ears

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs
short ribs
cupped ribs
irregular scapulae

Skeletal Limbs:
metaphyseal cupping
delayed epiphyseal ossification
irregular metaphyses
short long bones (rhizomelic shortening)
disproportionately long fibulae

Growth Weight:
normal birth weight

Chest External Features:
small, narrow chest

Skin Nails Hair Skin:
redundant skin folds

Clinical features from OMIM®:

250220 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spondylometaphyseal Dysplasia, Sedaghatian Type

Drugs for Spondylometaphyseal Dysplasia, Sedaghatian Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
2
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
3 Immunosuppressive Agents Phase 4
4 Immunologic Factors Phase 4
5 Anti-Infective Agents Phase 4
6 Cyclosporins Phase 4
7 Antirheumatic Agents Phase 4
8 Dermatologic Agents Phase 4
9 Antilymphocyte Serum Phase 4
10 Antifungal Agents Phase 4
11 Calcineurin Inhibitors Phase 4
12
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 70-16-6, 59-43-8 1130
13 Vitamins Phase 3
14 Vitamin B Complex Phase 3
15 Thiamin Phase 3
16
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
17
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
18
Gemcitabine Approved Phase 2 95058-81-4 60750
19
Decitabine Approved, Investigational Phase 1, Phase 2 2353-33-5 451668
20
Azacitidine Approved, Investigational Phase 1, Phase 2 320-67-2 9444
21 Gastrointestinal Agents Phase 2
22 Hormone Antagonists Phase 2
23 glucocorticoids Phase 2
24 Antiemetics Phase 2
25 Hormones Phase 2
26 Antineoplastic Agents, Hormonal Phase 2
27 Anti-Inflammatory Agents Phase 2
28 Alkylating Agents Phase 2
29 Antiviral Agents Phase 2
30 Antimetabolites Phase 2
31 Bendamustine Hydrochloride Phase 2
32 Anesthetics

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 SMD/ATG-CSA: Antithymocyte Globulin and Cyclosporine in Treating Low Risk Patients With Myelodysplastic Syndrome Completed NCT00488436 Phase 4 Antithymocyte globulin;Cyclosporine
2 Efficacy of Simo Decoction and Acupuncture or Chewing Gum Alone on Postoperative Ileus in Colorectal Cancer Resection: a Randomized Clinical Trial Completed NCT02813278 Phase 3
3 A Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT01469832 Phase 1, Phase 2
4 A Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (MA09-hRPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT01345006 Phase 1, Phase 2
5 The Efficacy of Bendamustine, Gemcytabine, Dexamethasone (BGD) Salvage Chemotherapy With Autologous Stem Cell Transplantation (ASCT) Consolidation in Advanced Classical Hodgkin Lymphoma Patients Not Responding to ABVD Therapy- Multicentre Phase II Clinical Study (PLRG-HL1/BURGUND) Recruiting NCT03615664 Phase 2 Bendamustine;Gemcitabine;Dexamethasone
6 A Phase I-II Trial of Acadesine in IPSS High and Int-2 SMD, LAM With 20-30% Marrow Blasts and CMML Type 2 Not Responding to Azacitidine or Decitabine for at Least 6 Courses or Relapsing After a Response Terminated NCT01813838 Phase 1, Phase 2 ACADESINE 140mg/kg/d;ACADESINE 210mg/kg/d;ACADESINE 315mg/kg/d
7 A Phase I, Open-Label, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial(MA09-hRPE) Cells in Patients With Stargardt's Macular Dystrophy(SMD) Unknown status NCT01625559 Phase 1
8 Preliminary Performance Study of the New TIPI Device in the Prevention of Stress Urinary Incontinence Completed NCT01770691
9 Follow-up to 5 Years of a Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT02941991
10 Long Term Follow Up to a Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (MA09-hRPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT02445612
11 Sternomental Displacement and Neck Circumference as Predictors of Difficult Airway in Obese Patients During General Anesthesia: a Prospective Observational Cohort Study Not yet recruiting NCT04524546
12 To Evaluate the Performance of a Urine Spermine Measuring Device in Predicting Prostate Biopsy Result Not yet recruiting NCT04339920

Search NIH Clinical Center for Spondylometaphyseal Dysplasia, Sedaghatian Type

Genetic Tests for Spondylometaphyseal Dysplasia, Sedaghatian Type

Genetic tests related to Spondylometaphyseal Dysplasia, Sedaghatian Type:

# Genetic test Affiliating Genes
1 Spondylometaphyseal Dysplasia, Sedaghatian Type 29 GPX4

Anatomical Context for Spondylometaphyseal Dysplasia, Sedaghatian Type

MalaCards organs/tissues related to Spondylometaphyseal Dysplasia, Sedaghatian Type:

40
Bone, Brain, Breast, Prostate, Heart, Ovary, Lung

Publications for Spondylometaphyseal Dysplasia, Sedaghatian Type

Articles related to Spondylometaphyseal Dysplasia, Sedaghatian Type:

(show top 50) (show all 1163)
# Title Authors PMID Year
1
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. 57 6
24706940 2014
2
Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature. 57 6
22529034 2012
3
Spondylometaphyseal dysplasia: Sedaghatian type. 61 57
10678656 2000
4
Spondylometaphyseal dysplasia-Sedaghatian type. 61 57
9556300 1998
5
Spondylometaphyseal dysplasia, Sedaghatian type. 57 61
1481828 1992
6
Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum. 57
16892303 2006
7
Sedaghatian congenital lethal metaphyseal chondrodysplasia--observations in a second Iranian family and histopathological studies. 57
3565474 1987
8
Congenital lethal metaphyseal chondrodysplasia: a newly recognized complex autosomal recessive disorder. 57
7211944 1980
9
Non-pharmacological treatment for Parkinson disease patients with depression: a meta-analysis of repetitive transcranial magnetic stimulation and cognitive-behavioral treatment. 61
32253965 2021
10
Effects of Resistance Training Performed to Failure or Not to Failure on Muscle Strength, Hypertrophy, and Power Output: A Systematic Review With Meta-Analysis. 61
33555822 2021
11
Neutrophil and Neutrophil-to-Lymphocyte Ratio as Clinically Predictive Risk Markers for Recurrent Pregnancy Loss. 61
33237515 2021
12
Supervised Multidimensional Scaling and its Application in MRI-Based Individual Age Predictions. 61
32676970 2021
13
Markers of endothelial dysfunction and arterial stiffness in patients with early-stage autosomal dominant polycystic kidney disease: A meta-analysis. 61
32946652 2021
14
Differential role of melatonin in healthy brain aging: a systematic review and meta-analysis of the SAMP8 model. 61
33811754 2021
15
Patients' perspectives on a new delivery model in primary care: A propensity score matched analysis of patient-reported outcomes in a Dutch cohort study. 61
32701197 2021
16
Sodium-glucose cotransporter 2 inhibitors reduce myocardial infarct size in preclinical animal models of myocardial ischaemia-reperfusion injury: a meta-analysis. 61
33483761 2021
17
The use of acupuncture for advanced cancer care: Protocol for a systematic review and meta-analysis. 61
33426711 2021
18
Changes in aqueous and vitreous inflammatory cytokine levels in neovascular age-related macular degeneration: a systematic review and meta-analysis. 61
32602185 2021
19
Patient preference and clinical working time between digital scanning and conventional impression making for implant-supported prostheses: A systematic review and meta-analysis. 61
33678434 2021
20
Association between serum visfatin levels and psoriasis and their correlation with disease severity: a meta-analysis. 61
33771065 2021
21
Health wearable devices for weight and BMI reduction in individuals with overweight/obesity and chronic comorbidities: systematic review and network meta-analysis. 61
33731385 2021
22
Movement disorders in primary central nervous system lymphoma: two unreported cases and a review of literature. 61
33443666 2021
23
Anti-inflammatory effects of melatonin: A systematic review and meta-analysis of clinical trials. 61
33581247 2021
24
Sulodexide for Diabetic-Induced Disabilities: A Systematic Review and Meta-Analysis. 61
33502688 2021
25
Responsiveness of kinematic and clinical measures of upper-limb motor function after stroke: A systematic review and meta-analysis. 61
32156646 2021
26
How does anterior cruciate ligament reconstruction affect the functioning of the brain and spinal cord? A systematic review with meta-analysis. 61
32707098 2021
27
Evaluation of post-adolescence exposure to bisphenol A on reproductive outcomes of male rodent models. 61
33757772 2021
28
Comparative Efficacy and Tolerability of Adjunctive Pharmacotherapies for Acute Bipolar Depression: A Systematic Review and Network Meta-analysis. 61
33174452 2021
29
Effects of antibiotic administration on post-operative endodontic symptoms in patients with pulpal necrosis: A systematic review and meta-analysis. 61
32681652 2021
30
Play and medical play in teaching pre-school children to cope with medical procedures involving needles: A systematic review. 61
33710698 2021
31
Drugging the "undruggable" microRNAs. 61
33052435 2021
32
Role of Arts Therapy in Patients with Breast and Gynecological Cancers: A Systematic Review and Meta-Analysis. 61
33507828 2021
33
Oral administration of mangiferin ameliorates diabetes in animal models: a meta-analysis and systematic review. 61
33601215 2021
34
Childhood trauma and cardiometabolic risk in severe mental disorders: The mediating role of cognitive control. 61
33775258 2021
35
Nonpharmacological Interventions for Pediatric Migraine: A Network Meta-analysis. 61
33688031 2021
36
Neurocognitive Effects of Chemotherapy for Colorectal Cancer: A Systematic Review and a Meta-Analysis of 11 Studies. 61
33735557 2021
37
Immediate and long-term effects of mechanical loading on Achilles tendon volume: A systematic review and meta-analysis. 61
33556887 2021
38
Effects of Whole Grain Intake, Compared with Refined Grain, on Appetite and Energy Intake: A Systematic Review and Meta-Analysis. 61
33530093 2021
39
Benefits of continuous positive airway pressure on glycaemic control and insulin resistance in patients with type 2 diabetes and obstructive sleep apnoea: A meta-analysis. 61
33146450 2021
40
Efficacy and acceptability of the S1P receptor in the treatment of multiple sclerosis: a meta-analysis. 61
33523319 2021
41
Sarcosine as an add-on treatment to antipsychotic medication for people with schizophrenia: a systematic review and meta-analysis of randomized controlled trials. 61
33538213 2021
42
Platelet-rich plasma injection vs corticosteroid injection for conservative treatment of rotator cuff lesions: A protocol for systematic review and meta-analysis. 61
33607808 2021
43
Exercise Interventions for Persistent Non-Specific Low Back Pain - Does Matching Outcomes to Treatment Targets Make a Difference? A Systematic Review and Meta-Analysis. 61
32580060 2021
44
Helicobacter pylori infection is associated with a poor response to levodopa in patients with Parkinson's disease: a systematic review and meta-analysis. 61
33616741 2021
45
Efficacy and safety of blood purification in the treatment of deep burns: A systematic review and meta-analysis. 61
33592850 2021
46
Chemokines in post-traumatic stress disorder: A network meta-analysis. 61
33242653 2021
47
Comparative efficacy and acceptability of expressive writing treatments compared with psychotherapy, other writing treatments, and waiting list control for adult trauma survivors: a systematic review and network meta-analysis. 61
33634766 2021
48
Dynamic contrast-enhanced MRI of synovitis in knee osteoarthritis: repeatability, discrimination and sensitivity to change in a prospective experimental study. 61
33591383 2021
49
The prognostic effects of hemodynamic parameters on rupture of intracranial aneurysm: A systematic review and meta-analysis. 61
33444872 2021
50
Preventing Staphylococcus aureus stainless steel-associated infections in orthopedics. A systematic review and meta-analysis of animal literature. 61
33527485 2021

Variations for Spondylometaphyseal Dysplasia, Sedaghatian Type

ClinVar genetic disease variations for Spondylometaphyseal Dysplasia, Sedaghatian Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPX4 NM_002085.5(GPX4):c.476+5G>A SNV Pathogenic 140615 rs775146234 GRCh37: 19:1105813-1105813
GRCh38: 19:1105814-1105814
2 GPX4 NM_002085.5(GPX4):c.477-8_477-4del Deletion Pathogenic 140616 rs1599810980 GRCh37: 19:1106230-1106234
GRCh38: 19:1106231-1106235
3 GPX4 NM_002085.5(GPX4):c.270C>A (p.Tyr90Ter) SNV Pathogenic 140617 rs769967246 GRCh37: 19:1105455-1105455
GRCh38: 19:1105456-1105456
4 GPX4 NM_002085.5(GPX4):c.85-321G>A SNV Uncertain significance 1028980 GRCh37: 19:1104864-1104864
GRCh38: 19:1104865-1104865

Expression for Spondylometaphyseal Dysplasia, Sedaghatian Type

Search GEO for disease gene expression data for Spondylometaphyseal Dysplasia, Sedaghatian Type.

Pathways for Spondylometaphyseal Dysplasia, Sedaghatian Type

GO Terms for Spondylometaphyseal Dysplasia, Sedaghatian Type

Sources for Spondylometaphyseal Dysplasia, Sedaghatian Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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