MCID: XLN206
MIFTS: 27

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 60
Johnson Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
x-linked intellectual disability-macrocephaly-macroorchidism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 Q87.8
Orphanet 60 ORPHA85320
SNOMED-CT via HPO 70 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. Affiliated tissues include t cells, skin and eye, 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 203)
# Related Disease Score Top Affiliating Genes
1 dubin-johnson syndrome 12.7
2 stevens-johnson syndrome/toxic epidermal necrolysis 12.6
3 severe cutaneous adverse reaction 12.4
4 stevens-johnson syndrome/toxic epidermal necrolysis overlap syndrome 12.2
5 weaver johnson syndrome 12.1
6 erythema multiforme 11.9
7 hyperbilirubinemia, rotor type 11.5
8 erythema multiforme major 11.4
9 gilbert syndrome 11.0
10 5-oxoprolinase deficiency 11.0
11 crigler-najjar syndrome, type ii 11.0
12 auditory neuropathy spectrum disorder 11.0
13 hepatitis 10.4
14 lupus erythematosus 10.3
15 systemic lupus erythematosus 10.3
16 bronchiolitis obliterans 10.2
17 cholestasis 10.2
18 bronchiolitis 10.2
19 burns 10.2
20 dermatitis 10.2
21 pneumonia 10.2
22 ocular cicatricial pemphigoid 10.2
23 cicatricial pemphigoid 10.1
24 keratitis, hereditary 10.1
25 cataract 10.1
26 mucositis 10.1
27 bilirubin metabolic disorder 10.1
28 herpes simplex 10.1
29 hypereosinophilic syndrome 10.1
30 drug reaction with eosinophilia and systemic symptoms 10.1
31 myeloma, multiple 10.1
32 arthritis 10.1
33 conjunctivitis 10.1
34 fixed drug eruption 10.1
35 hepatocellular carcinoma 10.0
36 rheumatoid arthritis 10.0
37 neutropenia 10.0
38 viral hepatitis 10.0
39 purpura 10.0
40 influenza 10.0
41 autoimmune progesterone dermatitis 10.0
42 encephalopathy 10.0
43 lung cancer 9.9
44 factor vii deficiency 9.9
45 leukemia 9.9
46 liver cirrhosis 9.9
47 lymphoma 9.9
48 intrahepatic cholestasis of pregnancy 9.9
49 endophthalmitis 9.9
50 measles 9.9

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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 macroorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000053
3 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342

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

Search Clinical Trials , 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:

42
T Cells, Skin, Eye, Testes, Tongue, Colon, 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 1772)
# Title Authors Year
1
Docetaxel-Induced Stevens-Johnson Syndrome in a Patient with Metastatic Prostate Adenocarcinoma. ( 30729055 )
2019
2
Bronchiolitis Obliterans After Cefuroxime-Induced Stevens-Johnson Syndrome. ( 30737366 )
2019
3
Bronchiolitis Obliterans as long-term sequela of non-drug related Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in children. ( 30908698 )
2019
4
Adult Coats' Disease, Dubin-Johnson Syndrome, and the Search for Targeted Therapies. ( 31100164 )
2019
5
Effectiveness of photodynamic therapy with verteporfin combined with intrastromal bevacizumab for corneal neovascularization in Stevens-Johnson syndrome. ( 29256167 )
2019
6
A Case of Dubin-Johnson Syndrome in Pregnancy. ( 31016076 )
2019
7
Late-onset Stevens-Johnson syndrome due to nivolumab use for hepatocellular carcinoma. ( 30782092 )
2019
8
Mucosal Lichen Planus Mimicking Mucosal Lesions in Stevens-Johnson Syndrome after Nivolumab Therapy. ( 30938822 )
2019
9
Corneal Limbal Stem Cell Deficiency in Children with Stevens-Johnson Syndrome. ( 30347185 )
2019
10
Osimertinib-induced Stevens-Johnson syndrome in a patient with EGFR T790M mutation-positive non-small cell lung cancer. ( 30612819 )
2019
11
Post-traumatic stress disorder in Stevens-Johnson syndrome and toxic epidermal necrolysis: prevalence and risk factors. A prospective study of 31 patients. ( 30282109 )
2019
12
Galectin-7 as a potential biomarker of Stevens-Johnson syndrome/ toxic epidermal necrolysis: Identification by targeted proteomics using causative drug-exposed peripheral blood cells. ( 31100551 )
2019
13
Defining Regional Differences in Drug-Induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis: A Tool to Improve Drug Safety? ( 30120778 )
2019
14
Incidence of Stevens-Johnson syndrome/toxic epidermal necrolysis among new users of different individual drugs in a European population: a case-population study. ( 30298362 )
2019
15
Novel complication of Flakka: Stevens-Johnson syndrome/Toxic epidermal necrolysis overlap. ( 30503281 )
2019
16
Serum and blister-fluid elevation and decreased epidermal content of HMGB1 protein in drug-induced Stevens Johnson syndrome/toxic epidermal necrolysis. ( 30613954 )
2019
17
Comprehensive assessment of T cell receptor β repertoire in Stevens-Johnson syndrome/toxic epidermal necrolysis patients using high-throughput sequencing. ( 30623817 )
2019
18
British Association of Dermatologists' guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in children and young people, 2018. ( 30829411 )
2019
19
Development and Validation of a Risk Prediction Model for In-Hospital Mortality Among Patients With Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis-ABCD-10. ( 30840032 )
2019
20
Sutureless amniotic membrane transplantation with cyanoacrylate glue for acute Stevens-Johnson syndrome/toxic epidermal necrolysis. ( 30872140 )
2019
21
Expression of prostaglandin E2 receptor 3 in the eyelid epidermis of patients with Stevens-Johnson syndrome/toxic epidermal necrolysis. ( 31000507 )
2019
22
Coxsackievirus B5-induced severe mucocutaneous reaction mimicking drug-induced Stevens-Johnson syndrome/toxic epidermal necrolysis. ( 31062724 )
2019
23
Intravenous cyclosporine in treatment of Stevens Johnson Syndrome/Toxic Epidermal Necrolysis: A case series. ( 31070856 )
2019
24
Oseltamivir induced Stevens-Johnson syndrome/toxic epidermal necrolysis-case report. ( 31083216 )
2019
25
Prognostication Using SCORTEN Severity of Illness Score in Patients With Stevens Johnson Syndrome and Toxic Epidermal Necrolysis. ( 30273718 )
2019
26
Efficacy and safety of cyclosporine in Stevens-Johnson syndrome and toxic epidermal necrolysis. ( 30285308 )
2019
27
Drug-induced Stevens-Johnson syndrome and toxic epidermal necrolysis: Proportion and determinants of underreporting to pharmacovigilance. ( 30292922 )
2019
28
Fluoxetine-induced Stevens-Johnson syndrome and liver injury. ( 30296343 )
2019
29
Idiopathic Stevens-Johnson syndrome and toxic epidermal necrolysis: Prevalence and patients' characteristics. ( 30395917 )
2019
30
Stevens-Johnson syndrome. ( 30406877 )
2019
31
Stevens-Johnson syndrome-like reaction without mucosal lesions associated with cyclophosphamide. ( 30504533 )
2019
32
Stevens Johnson Syndrome and Toxic Epidermal Necrolysis - an Australian analysis of treatment outcomes and mortality. ( 30632424 )
2019
33
Dark skin phototype is associated with more severe ocular complications of Stevens-Johnson syndrome and toxic epidermal necrolysis. ( 30633324 )
2019
34
Lacrimal passage irrigation in children with Stevens-Johnson syndrome or toxic epidermal necrolysis: a five-year retrospective study. ( 30658599 )
2019
35
Rapid remission of Stevens-Johnson syndrome by combination therapy using etanercept and intravenous immunoglobulin and a review of the literature. ( 30659711 )
2019
36
Prosthetic Replacement of the Ocular Surface Ecosystem Treatment for Ocular Surface Disease in Pediatric Patients with Stevens-Johnson Syndrome. ( 30664843 )
2019
37
A Review of the Management of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis. ( 30702535 )
2019
38
Biologic TNF-alpha inhibitors in the treatment of Stevens-Johnson syndrome and toxic epidermal necrolysis: a systemic review. ( 30702955 )
2019
39
Association of human antigen class I genes with cold medicine-related Stevens-Johnson syndrome with severe ocular complications in a Korean population. ( 30705045 )
2019
40
Multi-Step Grading System for Evaluation of Chronic Ocular Sequelae in Patients with Stevens-Johnson Syndrome. ( 30731084 )
2019
41
Spectrum of gastrointestinal involvement in Stevens - Johnson syndrome. ( 30788030 )
2019
42
Valproic acid and Stevens-Johnson syndrome: a systematic review of descriptive studies. ( 30809807 )
2019
43
Stevens-Johnson syndrome and toxic epidermal necrolysis: retrospective review of 10-year experience. ( 30825193 )
2019
44
Clinical features, outcomes and treatment in children with drug induced Stevens-Johnson syndrome and toxic epidermal necrolysis. ( 30830062 )
2019
45
Ocular and Mucocutaneous Sequelae among Survivors of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Togo. ( 30838038 )
2019
46
Ciprofloxacin-induced Stevens-Johnson Syndrome with Grapefruit Juice Consumption: A Case Report. ( 30868040 )
2019
47
A ten-year retrospective cohort study of the management of Toxic Epidermal Necrolysis and Stevens-Johnson Syndrome in a New South Wales State Referral Hospital from 2006 to 2016. ( 30908601 )
2019
48
Adverse drug reaction causality assessment tools for drug-induced Stevens-Johnson syndrome and toxic epidermal necrolysis: room for improvement. ( 30918988 )
2019
49
A Case of Stevens-Johnson Syndrome After Exposure to Valproic Acid. ( 30947405 )
2019
50
Microbial Keratitis in Stevens-Johnson Syndrome: A Prospective Study. ( 30998617 )
2019

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....