MCID: XLN228
MIFTS: 23

X-Linked Recessive Disease

Categories: Genetic diseases

Aliases & Classifications for X-Linked Recessive Disease

MalaCards integrated aliases for X-Linked Recessive Disease:

Name: X-Linked Recessive Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080012

Summaries for X-Linked Recessive Disease

Disease Ontology : 12 A X-linked monogenic disease that has material basis in recessive inheritance.

MalaCards based summary : X-Linked Recessive Disease is related to spinal and bulbar muscular atrophy, x-linked 1 and lesch-nyhan syndrome. An important gene associated with X-Linked Recessive Disease is WAS (WASP Actin Nucleation Promoting Factor). Affiliated tissues include skeletal muscle, eye and skin, and related phenotype is homeostasis/metabolism.

Related Diseases for X-Linked Recessive Disease

Diseases related to X-Linked Recessive Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 204)
# Related Disease Score Top Affiliating Genes
1 spinal and bulbar muscular atrophy, x-linked 1 11.2
2 wiskott-aldrich syndrome 11.1
3 choroideremia 11.1
4 lesch-nyhan syndrome 11.1
5 syndromic x-linked intellectual disability snyder type 11.1
6 autoimmune disease of cardiovascular system 10.6 SERPINA3 ICOSLG H2AC18 CCR6
7 autoimmune disease of skin and connective tissue 10.6 SERPINA3 ICOSLG H2AC18 CCR6
8 hypersensitivity reaction type iv disease 10.6 SERPINA3 ICOSLG H2AC18 CCR6
9 commensal bacterial infectious disease 10.6 SERPINA3 ICOSLG H2AC18 CCR6
10 parasitic helminthiasis infectious disease 10.6 SERPINA3 ICOSLG H2AC18 CCR6
11 salivary gland disease 10.6 SERPINA3 ICOSLG H2AC18 CCR6
12 mast cell neoplasm 10.6 U2AF1 SERPINA3 ICOSLG H2AC18
13 autoimmune disease of endocrine system 10.6 MIR142 ICOSLG H2AC18 CCR6
14 spinal cord disease 10.6 MIR142 ICOSLG H2AC18 CCR6
15 autoimmune disease of urogenital tract 10.6 ICOSLG H2AC18 CCR6
16 cytoplasmic body myopathy 10.6 UTRN DMD
17 immunodeficiency with hyper-igm, type 1 10.6 ICOSLG H2AC18 CCR6 BTK
18 bacterial pneumonia 10.6 SERPINA3 ICOSLG H2AC18 CCR6
19 klebsiella pneumonia 10.6 ICOSLG H2AC18 CCR6
20 extrinsic cardiomyopathy 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
21 hair disease 10.6 SERPINA3 ICOSLG H2AC18 CCR6
22 agammaglobulinemia, x-linked 10.6 WAS ICOSLG CCR6 BTK
23 chediak-higashi syndrome 10.6 SERPINA3 ICOSLG H2AC18 CCR6
24 thyroid gland disease 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
25 autoimmune disease of gastrointestinal tract 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
26 mature b-cell neoplasm 10.6 U2AF1 MIR142 ICOSLG H2AC18 CCR6
27 parasitic protozoa infectious disease 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
28 progressive relapsing multiple sclerosis 10.6 SERPINA3 H2AC18 CCR6
29 cardiomyopathy, dilated, 3b 10.6 UTRN TAFAZZIN DMD
30 ovary epithelial cancer 10.6 U2AF1 SERPINA3 ICOSLG H2AC18 CCR6
31 bronchial disease 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
32 primary bacterial infectious disease 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
33 pre-malignant neoplasm 10.6 SERPINA3 MIR142 H2AC18 CCR6
34 hypersensitivity reaction type iii disease 10.6 SERPINA3 ICOSLG CCR6
35 brachydactyly, type d 10.6 H2AC18 F9 F8
36 bile duct disease 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
37 intestinal benign neoplasm 10.6 SERPINA3 MIR142 H2AC18 CCR6
38 autoimmune disease of musculoskeletal system 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
39 bone inflammation disease 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
40 cone-rod dystrophy 1 10.6 TAFAZZIN ICOSLG H2AC18
41 autoimmune disease of blood 10.6 SERPINA3 ICOSLG CCR6
42 bacterial infectious disease 10.6 SERPINA3 ICOSLG H2AC18 CCR6 BTK
43 upper respiratory tract disease 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
44 bone resorption disease 10.6 SERPINA3 MIR142 H2AC18 CCR6
45 bone remodeling disease 10.6 SERPINA3 MIR142 H2AC18 CCR6
46 biliary tract disease 10.6 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
47 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.6 ICOSLG H2AC18 CCR6
48 omenn syndrome 10.6 WAS ICOSLG H2AC18 CCR6
49 gastrointestinal system benign neoplasm 10.6 SERPINA3 MIR142 H2AC18 CCR6
50 herpangina 10.6 ICOSLG H2AC18 CCR6

Graphical network of the top 20 diseases related to X-Linked Recessive Disease:



Diseases related to X-Linked Recessive Disease

Symptoms & Phenotypes for X-Linked Recessive Disease

MGI Mouse Phenotypes related to X-Linked Recessive Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.47 ABCD1 BTK CCR6 CHM CLCN5 DMD

Drugs & Therapeutics for X-Linked Recessive Disease

Search Clinical Trials , NIH Clinical Center for X-Linked Recessive Disease

Genetic Tests for X-Linked Recessive Disease

Anatomical Context for X-Linked Recessive Disease

MalaCards organs/tissues related to X-Linked Recessive Disease:

40
Skeletal Muscle, Eye, Skin, Neutrophil

Publications for X-Linked Recessive Disease

Articles related to X-Linked Recessive Disease:

(show top 50) (show all 119)
# Title Authors PMID Year
1
Dose-dependent microdystrophin expression enhancement in cardiac muscle by a cardiac specific regulatory element. 61
33765840 2021
2
Hypomyelinating Leukodystrophy 15 (HLD15)-Associated Mutation of EPRS1 Leads to Its Polymeric Aggregation in Rab7-Positive Vesicle Structures, Inhibiting Oligodendroglial Cell Morphological Differentiation. 61
33805425 2021
3
A classic variant of Fabry disease in a family with the M296I late-onset variant. 61
32902816 2021
4
The New CIC Mutation Associates with Mental Retardation and Severity of Seizure in Turkish Child with a Rare Class I Glucose-6-Phosphate Dehydrogenase Deficiency. 61
32535712 2020
5
Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice. 61
32623553 2020
6
Early-onset refractory diarrhea due to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with a novel mutation in the FOXP3 gene: A case report. 61
32518791 2020
7
Dysregulation of Calcium Handling in Duchenne Muscular Dystrophy-Associated Dilated Cardiomyopathy: Mechanisms and Experimental Therapeutic Strategies. 61
32075145 2020
8
PTX3 Predicts Myocardial Damage and Fibrosis in Duchenne Muscular Dystrophy. 61
32508664 2020
9
Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy. 61
31645980 2019
10
Toxicology Study of Intra-Cisterna Magna Adeno-Associated Virus 9 Expressing Iduronate-2-Sulfatase in Rhesus Macaques. 61
30073178 2018
11
Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 61
30014611 2018
12
Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy. 61
29137918 2018
13
Wiskott-Aldrich syndrome that was initially diagnosed as immune thrombocytopenic purpura secondary to a cytomegalovirus infection. 61
29348920 2018
14
Elevated Myocardial Extracellular Volume Fraction in Duchenne Muscular Dystrophy. 61
28762167 2017
15
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. 61
28728956 2017
16
Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia. 61
27885891 2017
17
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound. 61
28317311 2017
18
Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing (NGS) and non‑invasive prenatal testing (NIPT). 61
28098911 2017
19
Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort. 61
28183324 2017
20
Hemodialysis in a patient with severe hemophilia A and factor VIII inhibitor. 61
27149570 2016
21
Myocardial late gadolinium enhancement is associated with clinical presentation in Duchenne muscular dystrophy carriers. 61
27660108 2016
22
Treatment with L-citrulline and metformin in Duchenne muscular dystrophy: study protocol for a single-centre, randomised, placebo-controlled trial. 61
27488051 2016
23
Cathepsin S Contributes to the Pathogenesis of Muscular Dystrophy in Mice. 61
26966179 2016
24
Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. 61
26675233 2016
25
X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3. 61
26676689 2016
26
Generation of KCL029 research grade human embryonic stem cell line carrying a mutation in WAS gene. 61
27345811 2016
27
BARTH SYNDROME IN MALE AND FEMALE SIBLINGS CAUSED BY A NOVEL MUTATION IN THE TAZ GENE. 61
30226969 2016
28
Morphological changes of skeletal muscle in spinal and bulbar muscular atrophy (SBMA), Kennedy's disease: a case report. 61
25828775 2015
29
A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome. 61
25776009 2015
30
In vitro stability of therapeutically relevant, internally truncated dystrophins. 61
25954502 2015
31
Prenatal diagnosis in haemophilia A: experience of the genetic diagnostic laboratory. 61
25196590 2014
32
Visual diagnosis: 8-day-old hypotonic newborn with sparse hair. 61
25361912 2014
33
Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. 61
25242496 2014
34
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. 61
25087610 2014
35
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. 61
24439297 2014
36
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients. 61
25244321 2014
37
Symptomatic female carriers of Duchenne muscular dystrophy (DMD): genetic and clinical characterization. 61
24135430 2014
38
Gene therapy for Wiskott-Aldrich Syndrome-Long-term reconstitution and clinical benefits, but increased risk for leukemogenesis. 61
26942098 2014
39
Non-invasive prenatal testing for fetal sex determination: is ultrasound still relevant? 61
24094458 2013
40
Two cases of Wiskott-Aldrich syndrome in neonates due to gene mutations. 61
23301916 2013
41
Unusual case of subarachnoid haemorrhage in patient with Fabry's disease: case report and literature review. 61
22761201 2012
42
Closed Meningo(encephalo)cele: a new feature in Hunter syndrome. 61
22194384 2012
43
The cellular and molecular mechanisms for neutropenia in Barth syndrome. 61
22023389 2012
44
Menkes kinky hair syndrome: a rare neurodegenerative disease. 61
22919529 2012
45
Long-term systemic myostatin inhibition via liver-targeted gene transfer in golden retriever muscular dystrophy. 61
21787232 2011
46
Hyponatremia and antidiuresis syndrome. 61
22119069 2011
47
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. 61
22059643 2011
48
Hypohidrotic ectodermal dysplasia associated with glucose-6-phosphate dehydrogenase deficiency. 61
22028581 2011
49
A large advanced seminoma in an older woman with androgen insensitivity syndrome. 61
22384429 2011
50
DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy. 61
21334454 2011

Variations for X-Linked Recessive Disease

Expression for X-Linked Recessive Disease

Search GEO for disease gene expression data for X-Linked Recessive Disease.

Pathways for X-Linked Recessive Disease

GO Terms for X-Linked Recessive Disease

Cellular components related to X-Linked Recessive Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.44 WAS UTRN RS1 PLP1 OCRL ICOSLG

Biological processes related to X-Linked Recessive Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to denervation involved in regulation of muscle adaptation GO:0014894 8.62 UTRN DMD

Molecular functions related to X-Linked Recessive Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vinculin binding GO:0017166 8.62 UTRN DMD

Sources for X-Linked Recessive Disease

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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