MCID: XLN206
MIFTS: 32

X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism...

MalaCards integrated aliases for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome:

Name: X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 58
Johnson Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-macrocephaly-macroorchidism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA85320
SNOMED-CT via HPO 68 61152003

Summaries for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism...

MalaCards based summary : X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome, also known as johnson syndrome, is related to dubin-johnson syndrome and stevens-johnson syndrome/toxic epidermal necrolysis. The drugs Gabapentin and Phenytoin have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver, and related phenotypes are macrocephaly and macroorchidism

Related Diseases for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism...

Diseases related to X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 436)
# Related Disease Score Top Affiliating Genes
1 dubin-johnson syndrome 12.9
2 stevens-johnson syndrome/toxic epidermal necrolysis 12.8
3 severe cutaneous adverse reaction 12.5
4 stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome 12.4
5 erythema multiforme 12.3
6 erythema multiforme major 11.9
7 hyperbilirubinemia, rotor type 11.6
8 bilirubin metabolic disorder 11.6
9 gilbert syndrome 11.5
10 5-oxoprolinase deficiency 11.2
11 crigler-najjar syndrome, type ii 11.2
12 auditory neuropathy spectrum disorder 11.2
13 exanthem 10.7
14 conjunctivitis 10.5
15 allergic hypersensitivity disease 10.4
16 mucositis 10.4
17 cholestasis 10.4
18 yemenite deaf-blind hypopigmentation syndrome 10.4
19 bronchiolitis 10.4
20 lupus erythematosus 10.4
21 systemic lupus erythematosus 10.4
22 bronchiolitis obliterans 10.4
23 hypereosinophilic syndrome 10.3
24 keratitis, hereditary 10.3
25 skin disease 10.3
26 herpes simplex 10.3
27 bullous pemphigoid 10.3
28 stomatitis 10.3
29 respiratory failure 10.3
30 dermatitis 10.3
31 pneumonia 10.3
32 limbal stem cell deficiency 10.3
33 acute kidney failure 10.2
34 acute generalized exanthematous pustulosis 10.2
35 neutropenia 10.2
36 entropion 10.2
37 dysphagia 10.2
38 ocular cicatricial pemphigoid 10.2
39 autosomal recessive disease 10.2
40 drug reaction with eosinophilia and systemic symptoms 10.2
41 autoimmune disease 10.2
42 corneal neovascularization 10.2
43 liver disease 10.2
44 lung disease 10.2
45 graft-versus-host disease 10.1
46 cicatricial pemphigoid 10.1
47 purpura 10.1
48 endophthalmitis 10.1
49 cataract 10.1
50 fixed drug eruption 10.1

Graphical network of the top 20 diseases related to X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome:



Diseases related to X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome

Symptoms & Phenotypes for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism...

Human phenotypes related to X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 macroorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000053
3 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342

Drugs & Therapeutics for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism...

Drugs for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 131)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
2
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
3
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
4
Sargramostim Approved, Investigational Phase 4 83869-56-1, 123774-72-1
5
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
6
Sotalol Approved Phase 4 3930-20-9, 959-24-0 5253
7 Molgramostim Investigational Phase 4 99283-10-0
8 Pharmaceutical Solutions Phase 4
9 Ophthalmic Solutions Phase 4
10 Psychotropic Drugs Phase 4
11 Anticonvulsants Phase 4
12 Analgesics, Opioid Phase 4
13 Analgesics, Non-Narcotic Phase 4
14 Analgesics Phase 4
15 Excitatory Amino Acid Antagonists Phase 4
16 Anti-Anxiety Agents Phase 4
17 Hypolipidemic Agents Phase 4
18 Lipid Regulating Agents Phase 4
19 Antimetabolites Phase 4
20 Sodium Channel Blockers Phase 4
21 Diuretics, Potassium Sparing Phase 4
22 Anti-Arrhythmia Agents Phase 4
23 Neurotransmitter Agents Phase 4
24 Adrenergic Agents Phase 4
25 Adrenergic Antagonists Phase 4
26 Sympatholytics Phase 4
27 Adrenergic beta-Antagonists Phase 4
28
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
29
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
30
Lesinurad Approved, Investigational Phase 3 878672-00-5 53465279
31
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
32
Etravirine Approved Phase 3 269055-15-4 193962
33
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
34
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
35
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
36
tannic acid Approved Phase 2, Phase 3 1401-55-4
37 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
38
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
39
Benzocaine Approved, Investigational Phase 2, Phase 3 94-09-7, 1994-09-7 2337
40
Azithromycin Approved Phase 2, Phase 3 83905-01-5 447043 55185
41
Lopinavir Approved Phase 2, Phase 3 192725-17-0 92727
42
Hydrocortisone Approved, Vet_approved Phase 2, Phase 3 50-23-7 5754
43
Hydrocortisone acetate Approved, Vet_approved Phase 2, Phase 3 50-03-3
44
Hydroxychloroquine Approved Phase 2, Phase 3 118-42-3 3652
45
Ritonavir Approved, Investigational Phase 2, Phase 3 155213-67-5 392622
46
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2, Phase 3 1177-87-3
47
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 5743
48
Maraviroc Approved, Investigational Phase 2, Phase 3 376348-65-1 3002977
49
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
50
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
1 Efficacy of 0.05% Cyclosporin Eye Drop in Stevens Johnson Syndrome Patient With Chronic Dry Eye Completed NCT01488396 Phase 4 0.05%cyclosporin eye drop
2 A Prospective, Randomized, Placebo-controlled Trial of Pre-transplant and Prompt Post-transplant Treatment With Azithromycin to Improve Early Allograft Function and Outcome After Lung Transplantation Completed NCT01915082 Phase 4 Azithromycin;Ora-Plus
3 Pain Control in Pediatric Posterior Spine Fusion Patients: The Effect of Gabapentin on Post-operative Opioid Use and Patient Satisfaction Completed NCT01977937 Phase 4 Gabapentin 250mg/5mL NDC:59762-5025-01;Simple Syrup
4 Phenytoin as an Augmentation for SSRI Failures: A Controlled Study Completed NCT00146237 Phase 4 phenytoin
5 Early Effect Of Bezafibrate On Fibrinogen Levels, Inflammatory Response And Clinical Impact, In Patients With ST Elevation Acute Myocardial Infarction Completed NCT02291796 Phase 4 Bezafibrate
6 Evaluation of G-CSF as a Treatment of Toxic Epidermal Necrolysis Recruiting NCT02739295 Phase 4 recombinant granulocyte - colony stimulating factor;NaCl 0.9%
7 Transdermal Lidocaine Patch for Post-Cesarean Pain Control for Women With Obesity: a Single-blind Randomized Controlled Trial Active, not recruiting NCT03810235 Phase 4 Transdermal Lidocaine Patch;Transdermal Hydrocolloid Placebo Patch
8 A Prospective, Multi-Center, Randomized, Open Label Trial to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Not yet recruiting NCT02347111 Phase 4 Flecainide;Sotalol
9 Prevention of Coronary Artery in STENT Restenosis With the Combined Use of Pioglitazone and Sirolimus-Eluting Coronary Stent Unknown status NCT00376870 Phase 3 Pioglitazone;Placebo
10 NPB-01(Intravenous Immunoglobulin) Therapy for Patients With Stevens-Johnson Syndrome/ Toxic Epidermal Necrolysis Unresponsive to Corticosteroids. Completed NCT01696500 Phase 3 Intravenous immunoglobulin
11 Efficacy of Cultivated Corneal Epithelial Stem Cell for Ocular Surface Reconstruction Completed NCT01237600 Phase 2, Phase 3
12 Autologous ex Vivo Conjunctival Epithelial Cell Expansion for Ocular Surface Completed NCT00346450 Phase 3
13 A Phase 3 Randomized, Double-Blind, Multicenter, Placebo- Controlled Study to Assess the Efficacy and Safety of Lesinurad Monotherapy Compared to Placebo in Subjects With Gout and an Intolerance or Contraindication to a Xanthine Oxidase Inhibitor Completed NCT01508702 Phase 3 lesinurad;Placebo
14 A Phase III, Double Blind, Mulit-centre, Randomised Placebo Controlled, Pilot Study to Assess the Feasibility of Switching Individuals Receiving Efavirez With Continuing Central Nervous System (CNS) Toxicity to TMC125. Completed NCT00792324 Phase 3 Etravirine;Efavirenz
15 Randomised Evaluation of COVID-19 Therapy Recruiting NCT04381936 Phase 2, Phase 3 Lopinavir-Ritonavir;Corticosteroid;Hydroxychloroquine;Azithromycin;Tocilizumab
16 Maraviroc to Augment Rehabilitation Outcomes After Stroke Recruiting NCT03172026 Phase 2, Phase 3 Maraviroc 300 mg;Placebo 300 mg
17 NATIENS: A Phase III Randomized Double-Blinded Placebo Controlled Study to Determine the Optimal Management and Mechanisms of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Not yet recruiting NCT02987257 Phase 3 Harmonized supportive care;Cyclosporine 5 mg/kg bid days 0-14;Etanercept 50 mg sc day 0 and day 3
18 Lamictal in the Treatment of Post-Herpetic Neuralgia-A Safety, Efficacy,Randomized, Double Blind, Placebo Controlled, Cross-Over Study Terminated NCT00295776 Phase 2, Phase 3 Lamictal in the treatment of Post-Herpetic Neuralgia
19 The Use of Riboflavin/Ultraviolet A Cross-linked Human Donor Corneas as Carriers for the Boston Keratoprosthesis Completed NCT01582880 Phase 1, Phase 2 Riboflavin
20 Evaluation the Effect of Amniotic Membrane Extract Eye Drop (AMEED) on Human Corneal Epithelium Healing (Phase I and II Clinical Trial) Completed NCT02746848 Phase 1, Phase 2
21 Comparison of Standard Versus Double Dose of Amoxicillin in the Treatment of Non-Severe Pneumonia in Children Aged 2-59 Months: A Multi-Centre Randomized Double Blind Controlled Trial in Pakistan Completed NCT00130013 Phase 1, Phase 2 Oral Amoxicillin
22 Palifermin Treatment of Toxic Epidermal Necrolysis Terminated NCT02037347 Phase 1, Phase 2 Palifermin
23 Infliximab Therapy to Improve Retention of the Boston Keratoprosthesis in Patients After Stevens Johnson Syndrome/ Toxic Epidermal Necrolysis Withdrawn NCT01256489 Phase 1, Phase 2 Infliximab
24 Topical Infliximab in Autoimmune Eyes With Keratoprosthesis Withdrawn NCT02126020 Phase 1, Phase 2 topical infliximab
25 Pilot Study Comparing Remicade (Infliximab) vs. Standard Care in the Treatment of Toxic Epidermal Necrolysis Withdrawn NCT00372723 Phase 2 Remicaide (infliximab)
26 A Randomized Placebo Controlled Split-body Double-blind Phase II Clinical Trial to Investigate the Safety and Efficacy of Clobetasol 0.05% Ointment for the Treatment of Toxic Epidermal Necrolysis (TEN) Withdrawn NCT02319616 Phase 1, Phase 2 Clobetasol 0.05% ointment;Placebo
27 Assessment of Fibrin Glue in Pterygium Surgery and Other Forms of Ocular Surface Reconstruction Completed NCT00344201 Phase 1
28 Topical Infliximab for the Treatment of Sterile Corneal Melt Recruiting NCT02987686 Phase 1 Topical Infliximab
29 Platelet Rich-plasma in Management of Chronic Multiple Oral Ulcers Not yet recruiting NCT03878771 Phase 1 Dermovate cream in Orabase
30 Comparison of Corneal Epitheliotropic Factors in Autologous Serum Eye Drops Between Nonautoimmune Dry Eye and Stevens-Johnson Syndrome With Dry Eye Unknown status NCT01122303
31 A Prospective Study to Prove the Usefulness of HLA-B*5801 Screening Test for the Prevention of Allopurinol-induced Severe Cutaneous Adverse Reaction in Patient With Chronic Kidney Disease Unknown status NCT03046914
32 Drug Patch Tests, Enzyme-linked Immunosorbent Spot Assay (Elispot) and Lymphocyte Transformation Tests in Patients With Severe Cutaneous Adverse Reaction to Drugs (SCARs) Unknown status NCT03176342
33 Serum Interleukin -21 Level in Patients With Severe Adverse Cutaneous Drug Reaction and Correlation With Disease Severity. Unknown status NCT03166241
34 Evaluating the Effect of Isotretinoin in Regulatory T-cell Function in Adverse Cutaneous Drug Eruptions (ACDEs): A Pilot Study Unknown status NCT02795143 Isotretinoin
35 The Use of Pentacam in Assessment of Corneal Changes After Pterygium Excision Unknown status NCT03304366
36 The Effect of Sitagliptin on Hypertension, Arterial Stiffness, Oxidative Stress and Inflammation Unknown status NCT00696982 sitagliptin;glibenclamide
37 Stevens-Johnson Syndrome Associated With Antimicrobial Completed NCT00844038
38 Salivary Gland and Labial Mucous Membrane Transplantation in the Treatment of Severe Symblepharon and Dry Eye in Patients With Stevens-Johnson Syndrome. Completed NCT01178242
39 Evaluation of TNF-α Blockade Effect in Patients With Severe Cutaneous Adverse Drug Reactions (SCAR) Completed NCT01276314 anti- TNF-a;Prednisolone
40 Urinary Ratio of the Coproporphyrins Isomers I and III and Its Relationships With Methotrexate Elimination in Patients With a Lymphoid Malignancy Completed NCT00822432
41 A Prospective Open-label, Multicenter Clinical Investigation to Assess the Safety and Performance of ARGOS-IO System in Patients Undergoing Implantation of a Boston Keratoprosthesis (BKPro) Completed NCT02945176
42 Evaluation of Immune Responses to Different Antigens in Non Infectious Ocular Inflammatory Diseases Completed NCT00357071
43 Safety and Effectiveness of a Laboratory Intervention to Effectively NOT Treat Asymptomatic Bacteriuria (SALIENT-A) Completed NCT03445312
44 Randomised Research Comparing Acupuncture, Herbal Treatment and Artificial Tear Eye Drops in Dry Eye Completed NCT02219204
45 Randomized Controlled Trial of Pharmacist-led Medication Review With Follow-up on Cardiovascular Older Adult Patients in Primary Care. POLARIS Completed NCT03502109
46 The Multicenter Registry of Patients With Severe Cutaneous Adverse Reactions Among Tertiary Medical Institutes in Thailand Recruiting NCT02574988
47 Adverse Cutaneous Drug Reactions Collection of Clinical Data and Biological Samples Recruiting NCT03659227
48 Association of Cytokines With the Development of Complications in Burn and Toxic Epidermal Necrolysis (TENS) Patients Recruiting NCT04252651
49 The Effects of Minor Salivary Gland Transplantation for Cicatrizing Conjunctivitis Recruiting NCT03839069
50 The Effects of Autologous Simple Limbal Epithelial Transplantation. Recruiting NCT04021875

Search NIH Clinical Center for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome

Genetic Tests for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism...

Anatomical Context for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism...

MalaCards organs/tissues related to X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome:

40
Skin, Eye, Liver, Testes, T Cells, Lung, Salivary Gland

Publications for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism...

Articles related to X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome:

(show top 50) (show all 4050)
# Title Authors PMID Year
1
Altered levels of complement components associated with non-immediate drug hypersensitivity reactions. 61
31795786 2020
2
Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Children With Non-Hodgkin Lymphoma. 61
32576784 2020
3
Clinical clues predictive of Stevens-Johnson syndrome as the cause of chronic cicatrising conjunctivitis. 61
31630093 2020
4
Long-term outcomes of amniotic membrane treatment in acute Stevens-Johnson syndrome/toxic epidermal necrolysis. 61
32200005 2020
5
Highlights from the 2nd Biennial Stevens Johnson syndrome symposium 2019: SJS/TEN from Science to Translation. 61
31785388 2020
6
Treatment for oral lesions in pediatric patients with Stevens-Johnson's syndrome: A case report and literature review. 61
31923328 2020
7
Toxic Epidermal Necrolysis and Steven-Johnson Syndrome: A Comprehensive Review. 61
32520664 2020
8
Alteplase treatment for massive lung atelectasis in a child with severe bronchiolitis obliterans complicating Stevens-Johnson syndrome. 61
32324952 2020
9
Expression of prostaglandin E2 receptor 3 in the eyelid epidermis of patients with Stevens-Johnson syndrome/toxic epidermal necrolysis. 61
31000507 2020
10
Ectopic sebaceous glands of Gibsan in eyelid margin- A novel manifestation in Stevens Johnson Syndrome & proposed nomenclature based on an observational case series. 61
32194257 2020
11
Fixed Drug Eruptions: An Update, Emphasizing the Potentially Lethal Generalized Bullous Fixed Drug Eruption. 61
32002848 2020
12
Mycoplasma Pneumoniae Induced Rash and Mucositis (MIRM): A Longitudinal Perspective and Proposed Management Criteria. 61
32574770 2020
13
Successful use of rifampin in a patient with Stevens-Johnson syndrome to rifabutin. 61
32169513 2020
14
Stevens-Johnson Syndrome Secondary to Doxycycline Treatment in a Teenage Boy. 61
32574716 2020
15
[Advances in understanding of the pathophysiology of epidermal necrolysis (Stevens-Johnson syndrome and toxic epidermal necrolysis)]. 61
32253008 2020
16
Stevens-Johnson syndrome triggered by Levetiracetam-Caution for use with Carbamazepine. 61
32540638 2020
17
Stevens-Johnson syndrome and toxic epidermal necrolysis-like reactions to checkpoint inhibitors: a systematic review. 61
32052409 2020
18
Long-term Progression of Ocular Surface Disease in Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis. 61
32028281 2020
19
A pediatric case of Stevens-Johnson syndrome/toxic epidermal necrolysis with rapid response to intravenous cyclosporine. 61
32509946 2020
20
Retrospective study of 213 cases of Stevens-Johnson syndrome and toxic epidermal necrolysis from China. 61
31898979 2020
21
Erythema multiforme, Stevens-Johnson syndrome/toxic epidermal necrolysis - diagnosis and treatment. 61
32469468 2020
22
Cannabis extract for the treatment of painful tonic spasms in a patient with neuromyelitis optica spectrum disorder: A case report. 61
32559701 2020
23
Traditional and advanced therapeutic modalities for wounds in the paediatric population: an evidence-based review. 61
32530778 2020
24
An update on CYP2C9 polymorphisms and phenytoin metabolism: implications for adverse effects. 61
32510242 2020
25
Burn center admissions of patients with autoimmune rheumatic diseases: clinical characteristics and outcomes. 61
32507914 2020
26
General characteristics, economic burden, causative drugs and medical errors associated with medical damage litigation involving severe cutaneous adverse drug reactions in China. 61
32516456 2020
27
The Association Between Concurrence of Infection and the Onset of Severe Eruption or Liver Injury in Patients Using Antipyretic Analgesics: A Matched, Nested Case-Control Study. 61
32521061 2020
28
Association of carbamazepine-induced Stevens-Johnson syndrome/toxic epidermal necrolysis with the HLA-B75 serotype or HLA-B*15:21 allele in Filipino patients. 61
31896765 2020
29
Clinical trial to evaluate the therapeutic benefits of limbal-supported contact lens wear for ocular sequelae due to Stevens-Johnson syndrome/toxic epidermal necrolysis. 61
32513522 2020
30
Reply to: "The age of procalcitonin: Potential pitfalls in critically ill patients with SJS/TEN. A comment on 'Risk factors and diagnostic markers of bacteremia in Stevens-Johnson syndrome and toxic epidermal necrolysis: A cohort study of 176 patients'". 61
32092373 2020
31
The age of procalcitonin: potential pitfalls in critically ill patients with SJS/TEN. A comment on "Risk factors and diagnostic markers of bacteremia in Stevens-Johnson syndrome and toxic epidermal necrolysis: A cohort study of 176 patients". 61
32092376 2020
32
Acute pancreatic injuries: A complication of Stevens-Johnson syndrome/toxic epidermal necrolysis associated with cytotoxic immune cell activation. 61
32561372 2020
33
Society of Dermatology Hospitalists supportive care guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in adults. 61
32151629 2020
34
Differences in treatment of Stevens-Johnson syndrome and toxic epidermal necrolysis at burn centers and non-burn centers. 61
32498082 2020
35
CME Part II: Immune checkpoint inhibitor-related dermatologic adverse events. 61
32454097 2020
36
Direct Injection of 5-Fluorouracil Improves Outcomes in Cicatrizing Conjunctival Disorders Secondary to Systemic Disease. 61
32427724 2020
37
Ventilatory support in Stevens-Johnson syndrome and toxic epidermal necrolysis: a systematic review and meta-analysis. 61
32412819 2020
38
RIP3 as a diagnostic and severity marker for Stevens-Johnson syndrome and toxic epidermal necrolysis. 61
31954192 2020
39
Upper airway involvement in Stevens-Johnson syndrome and toxic epidermal necrolysis. 61
31591001 2020
40
The effects of systemic cyclosporine in acute Stevens-Johnson syndrome/toxic epidermal necrolysis on ocular disease. 61
32445836 2020
41
Toxic epidermal necrolysis syndrome induced by tigecycline: a case report. 61
32400243 2020
42
Genetic variants associated with T cell-mediated cutaneous adverse drug reactions: A PRISMA-compliant systematic review-An EAACI position paper. 61
31899808 2020
43
Cutaneous toxicities of new targeted cancer therapies: must know for diagnosis, management, and patient-proxy empowerment. 61
31594365 2020
44
Genetic association of co-trimoxazole-induced severe cutaneous adverse reactions is phenotype-specific: HLA class I genotypes and haplotypes. 61
32452529 2020
45
Association of HLA genotypes with phenytoin induced severe cutaneous adverse drug reactions in Thai children. 61
32272329 2020
46
HLA-B*58: 01 association in allopurinol-induced severe cutaneous adverse reactions: the implication of ethnicity and clinical phenotypes in multiethnic Malaysia. 61
32433341 2020
47
Erythema Multiforme Versus Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis: Subtle Difference in Presentation, Major Difference in Management. 61
32373930 2020
48
Two False Negative Test Results in a Symptomatic Patient with a Confirmed Case of Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) and Suspected Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN). 61
32455090 2020
49
Treatment of Oculoplastic and Ocular Surface Disease in Eyes Implanted with a Type I Boston Keratoprosthesis in Southern China: A Retrospective Study. 61
32436025 2020
50
Combination Therapy of Ipilimumab and Nivolumab-associated Toxic Epidermal Necrolysis (TEN) in a Patient With Metastatic Melanoma: A Case Report and Literature Review. 61
31651559 2020

Variations for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism...

Expression for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism...

Search GEO for disease gene expression data for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome.

Pathways for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism...

GO Terms for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism...

Sources for X-Linked Intellectual Disability-Macrocephaly-Macroorchidism...

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....