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 73 36 29 6 71
Sedaghatian Chondrodysplasia 57 73
Smds 57 73
Metaphyseal Chondrodysplasia, Congenital Lethal 57
Spondylometaphyseal Dysplasia Sedaghatian Type 20
Congenital Lethal Metaphyseal Chondrodysplasia 73
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-Mar-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 72 C1855229
Orphanet 58 ORPHA93317
MedGen 41 C1855229
UMLS 71 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: 93317DefinitionSpondylometaphyseal 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.EpidemiologyNine cases have been reported so far in patients of Iranian, Yemeni and Caucasian origin.Clinical descriptionA 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.EtiologyEtiology remains unknown.Genetic counselingAutosomal recessive inheritance has been suggested.Visit the Orphanet disease page for more resources.

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 Clotrimazole and Miconazole 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-Mar-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 : 73 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 rhizomelia 31 HP:0008905
36 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
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-Mar-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-Mar-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
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3 Immunosuppressive Agents Phase 4
4 Immunologic Factors Phase 4
5 Anti-Infective Agents Phase 4
6 Antifungal Agents Phase 4
7 Antilymphocyte Serum Phase 4
8 Cyclosporins Phase 4
9 Antirheumatic Agents Phase 4
10 Dermatologic 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 Vitamin B Complex Phase 3
14 Vitamins Phase 3
15 Thiamin Phase 3
16
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
17
Gemcitabine Approved Phase 2 95058-81-4 60750
18
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
19
Azacitidine Approved, Investigational Phase 1, Phase 2 320-67-2 9444
20
Decitabine Approved, Investigational Phase 1, Phase 2 2353-33-5 451668
21 Gastrointestinal Agents Phase 2
22 Anti-Inflammatory Agents Phase 2
23 Hormones Phase 2
24 Hormone Antagonists Phase 2
25 Antimetabolites Phase 2
26 glucocorticoids Phase 2
27 Antiviral Agents Phase 2
28 Antineoplastic Agents, Hormonal Phase 2
29 Antiemetics Phase 2
30 Alkylating Agents 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 1149)
# 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. 6 57
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
Movement disorders in primary central nervous system lymphoma: two unreported cases and a review of literature. 61
33443666 2021
10
Deep learning-based propensity scores for confounding control in comparative effectiveness research: A large-scale, real-world data study. 61
33591049 2021
11
Dynamic contrast-enhanced MRI of synovitis in knee osteoarthritis: repeatability, discrimination and sensitivity to change in a prospective experimental study. 61
33591383 2021
12
Is Dry Needling Effective for the Management of Spasticity, Pain, and Motor Function in Post-Stroke Patients? A Systematic Review and Meta-Analysis. 61
33338222 2021
13
Effect of sodium bicarbonate contribution on energy metabolism during exercise: a systematic review and meta-analysis. 61
33546730 2021
14
Suggestibility in functional neurological disorder: a meta-analysis. 61
33219037 2021
15
Incomparability of treatment groups is often blindly ignored in randomised controlled trials - a post hoc analysis of baseline characteristic tables. 61
33080343 2021
16
Effectiveness of exercise-based interventions in reducing depressive symptoms in people without clinical depression: systematic review and meta-analysis of randomised controlled trials. 61
33533706 2021
17
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
18
Efficacy and acceptability of the S1P receptor in the treatment of multiple sclerosis: a meta-analysis. 61
33523319 2021
19
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
20
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
21
Assessment of Interprofessional Collaborative Practices and Outcomes in Adults With Diabetes and Hypertension in Primary Care: A Systematic Review and Meta-analysis. 61
33576817 2021
22
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
23
Role of Glutamine in the Management of Oral Mucositis in Patients with Cancer: A Meta-Analysis of Randomized Controlled Trials. 61
33605813 2021
24
Efficacy and safety of blood purification in the treatment of deep burns: A systematic review and meta-analysis. 61
33592850 2021
25
Chemokines in post-traumatic stress disorder: A network meta-analysis. 61
33242653 2021
26
The Use of Low-Level Laser Therapy to Reduce Postoperative Morbidity After Third Molar Surgery: A Systematic Review and Meta-Analysis. 61
33058775 2021
27
Anti-inflammatory effects of melatonin: A systematic review and meta-analysis of clinical trials. 61
33581247 2021
28
Immediate and long-term effects of mechanical loading on Achilles tendon volume: A systematic review and meta-analysis. 61
33556887 2021
29
Assessing Problematic Social Media Use in Adolescents by Parental Ratings: Development and Validation of the Social Media Disorder Scale for Parents (SMDS-P). 61
33561980 2021
30
Extended Dissipative Sliding-Mode Control for Discrete-Time Piecewise Nonhomogeneous Markov Jump Nonlinear Systems. 61
33606651 2021
31
The Efficacy and Safety of Transcranial Direct Current Stimulation for Cerebellar Ataxia: a Systematic Review and Meta-Analysis. 61
32833224 2021
32
Excess mortality and risk factors for mortality among patients with severe mental disorders receiving home care case management. 61
32749171 2021
33
Adjunctive Psychotherapy for Bipolar Disorder: A Systematic Review and Component Network Meta-analysis. 61
33052390 2021
34
Efficacy and dropout rates of antipsychotic medications for methamphetamine psychosis: A systematic review and network meta-analysis. 61
33385693 2021
35
Effects of Whole Grain Intake, Compared with Refined Grain, on Appetite and Energy Intake: A Systematic Review and Meta-Analysis. 61
33530093 2021
36
PreventingStaphylococcus aureus stainless steel-associated infections in orthopaedics. A systematic review and meta-analysis of animal literature. 61
33527485 2021
37
The prognostic effects of hemodynamic parameters on rupture of intracranial aneurysm: A systematic review and meta-analysis. 61
33444872 2021
38
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
39
Skeletally anchored forsus fatigue resistant device for correction of Class II malocclusions-A systematic review and meta-analysis. 61
32772479 2021
40
Effect of glucose and sucrose on cognition in healthy humans: a systematic review and meta-analysis of interventional studies. 61
32585003 2021
41
Anaemia and physical and mental health in the very old: An individual participant data meta-analysis of four longitudinal studies of ageing. 61
32939533 2021
42
Comparative efficacy of racemic ketamine and esketamine for depression: A systematic review and meta-analysis. 61
33022440 2021
43
Management of Cardiovascular Health in People with Severe Mental Disorders. 61
33409804 2021
44
Efficacy of ultrasound guidance for lumbar punctures: a systematic review and meta-analysis of randomised controlled trials. 61
33148780 2021
45
Antidiabetic drugs and non-alcoholic fatty liver disease: A systematic review, meta-analysis and evidence map. 61
32912770 2021
46
Effects of Foot Strike Techniques on Running Biomechanics: A Systematic Review and Meta-analysis. 61
32813597 2021
47
Metformin Therapy for Acne in Patients with Polycystic Ovary Syndrome: A Systematic Review and Meta-analysis. 61
33048332 2021
48
Effect of Probiotic, Prebiotic, and Synbiotic Supplementation on Cardiometabolic and Oxidative Stress Parameters in Patients with Chronic Kidney Disease: a Systematic Review and Meta-analysis. 61
33526314 2021
49
Evaluating narrative exposure therapy for post-traumatic stress disorder and depression symptoms: A meta-analysis of the evidence base. 61
32525597 2021
50
Effects of physical activity on the progression of diabetic nephropathy: a meta-analysis. 61
33289502 2021

Variations for Spondylometaphyseal Dysplasia, Sedaghatian Type

ClinVar genetic disease variations for Spondylometaphyseal Dysplasia, Sedaghatian Type:

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

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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