DEL
MCID: XP2001
MIFTS: 26

Xp22.3 Microdeletion Syndrome (DEL)

Categories: Rare diseases

Aliases & Classifications for Xp22.3 Microdeletion Syndrome

MalaCards integrated aliases for Xp22.3 Microdeletion Syndrome:

Name: Xp22.3 Microdeletion Syndrome 54
Del 54

Classifications:



Summaries for Xp22.3 Microdeletion Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1643Disease definitionXp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.Visit the Orphanet disease page for more resources.

MalaCards based summary : Xp22.3 Microdeletion Syndrome, also known as del, is related to sclerocornea and microphthalmia. Affiliated tissues include myeloid, bone and skin, and related phenotypes are short stature and secondary amenorrhea

Related Diseases for Xp22.3 Microdeletion Syndrome

Diseases related to Xp22.3 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sclerocornea 10.1
2 microphthalmia 10.1
3 heart disease 10.1

Symptoms & Phenotypes for Xp22.3 Microdeletion Syndrome

Human phenotypes related to Xp22.3 Microdeletion Syndrome:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 short stature 33 hallmark (90%) HP:0004322
2 secondary amenorrhea 33 hallmark (90%) HP:0000869
3 abnormality of chromosome segregation 33 hallmark (90%) HP:0002916
4 opacification of the corneal stroma 33 frequent (33%) HP:0007759
5 myopia 33 frequent (33%) HP:0000545
6 hypogonadotrophic hypogonadism 33 frequent (33%) HP:0000044
7 polycystic ovaries 33 frequent (33%) HP:0000147
8 aplasia/hypoplasia of the skin 33 frequent (33%) HP:0008065
9 decreased fertility 33 frequent (33%) HP:0000144
10 aplasia/hypoplasia affecting the eye 33 frequent (33%) HP:0008056
11 sacral dimple 33 occasional (7.5%) HP:0000960
12 ectopic anus 33 occasional (7.5%) HP:0004397

Drugs & Therapeutics for Xp22.3 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for Xp22.3 Microdeletion Syndrome

Genetic Tests for Xp22.3 Microdeletion Syndrome

Anatomical Context for Xp22.3 Microdeletion Syndrome

MalaCards organs/tissues related to Xp22.3 Microdeletion Syndrome:

42
Myeloid, Bone, Skin, Colon, Ovary, Endothelial, Bone Marrow

Publications for Xp22.3 Microdeletion Syndrome

Articles related to Xp22.3 Microdeletion Syndrome:

(show top 50) (show all 1759)
# Title Authors Year
1
Severe metabolic syndrome and primary amenorrhea as main pathophysiological features in a subtype of turner syndrome (46, X, del (X) Q 21). ( 30796876 )
2019
2
Deep sequencing of bone marrow microenvironments of patients with del(5q) myelodysplastic syndrome reveals imprints of antigenic selection as well as generation of novel T cell clusters as response pattern to lenalidomide. ( 30655375 )
2019
3
Lenalidomide and Prednisone in Low and Intermediate-1 IPSS Risk, Non-Del(5q) Patients With Myelodysplastic Syndromes: Phase 2 Clinical Trial. ( 30852241 )
2019
4
Letter by Del Buono et al Regarding Article, "A Simple, Evidence-Based Approach To Help Guide Diagnosis of Heart Failure With Preserved Ejection Fraction". ( 30742537 )
2019
5
Natural history of multiple myeloma with de novo del(17p). ( 30846679 )
2019
6
Letter in response to Del Brutto, axonal swelling and spheroids in Taenia solium neurocysticercosis. ( 30637848 )
2019
7
Del Nido Cardioplegia Should Be Used in All Adults Undergoing Cardiac Surgery: Con. ( 30852089 )
2019
8
Planned Transfusion of D-Positive Blood Components in an Asia Type DEL Patient: Proposed Modification of the Korean National Guidelines for Blood Transfusion. ( 30215239 )
2019
9
Influence of the early bacterial biofilms developed on vats made with seven wood types on PDO Vastedda della valle del Belìce cheese characteristics. ( 30476738 )
2019
10
Contribution of isotopic research techniques to characterize high-mountain-Mediterranean karst aquifers: The Port del Comte (Eastern Pyrenees) aquifer. ( 30504022 )
2019
11
Utilization of Del Nido Cardioplegia in Adult Coronary Artery Bypass Grafting - A Retrospective Analysis. ( 30531128 )
2019
12
Identification of a novel B allele with a nucleotide deletion (c.3_4 del G) in the ABO gene associated with a Bx phenotype individual. ( 30549285 )
2019
13
Arterial Resections During Pancreatectomy: In Reply to Del Chiaro and Schulick. ( 30580802 )
2019
14
NCRP 54th Annual Meeting, Radiation Protection Responsibility in Medicine: Dialogue and Shared Decision Making Q&A (Questions for Kimberly E. Applegate, Lawrence T. Dauer, Randall N. Hyer, María Del Rosario Pérez, Julie E.K. Timins, and Jessica S. Wieder). ( 30585967 )
2019
15
The enhanced replication of an S-intact PEDV during coinfection with an S1 NTD-del PEDV in piglets. ( 30593369 )
2019
16
Vernonia Amygdalina Del. stimulated glucose uptake in brain tissues enhances antioxidative activities; and modulates functional chemistry and dysregulated metabolic pathways. ( 30607820 )
2019
17
Corruption and conflicts as barriers to adaptive governance: Water governance in dryland systems in the Rio del Carmen watershed. ( 30640119 )
2019
18
A new species of forest snake of the genus Rhadinaea from Tropical Montane Rainforest in the Sierra Madre del Sur of Oaxaca, Mexico (Squamata, Dipsadidae). ( 30647526 )
2019
19
Psychiatric Home Hospitalization Unit of the Hospital del Mar. A crisis resolution and home treatment team in Barcelona. ( 30670368 )
2019
20
The Use of del Nido Cardioplegia for Myocardial Protection in Isolated Coronary Artery Bypass Surgery. ( 30723044 )
2019
21
New G-Quadruplex-Forming Oligodeoxynucleotides Incorporating a Bifunctional Double-Ended Linker (DEL): Effects of DEL Size and ODNs Orientation on the Topology, Stability, and Molecularity of DEL-G-Quadruplexes. ( 30759875 )
2019
22
DNA-Compatible [3 + 2] Nitrone-Olefin Cycloaddition Suitable for DEL Syntheses. ( 30762372 )
2019
23
VIII Jornada Científica de la Sociedad Española para las Ciencias del Animal de laboratorio (SECAL)/VIII Scientific Session of the Spanish Society of Laboratory Animal Sciences (SECAL). ( 30799676 )
2019
24
Acute basophilic leukaemia secondary to MDS with isolated del(5q). ( 30864144 )
2019
25
DEL-1-Regulated Immune Plasticity and Inflammatory Disorders. ( 30885428 )
2019
26
Liver Resection and Role of Extended Cytology and Histology : Response to: Viganò L, Costa G, Cimino MM, Procopio F, Donadon M, Del Fabbro D, Belghiti J, Kokudo N, Makuuchi M, Vauthey JN, Torzilli G. R1 Resection for Colorectal Liver Metastases: a Survey Questioning Surgeons about Its Incidence, Clinical Impact, and Management. J Gastrointest Surg. 2018 Oct; 22(10):1752-1763. ( 30891660 )
2019
27
Luigi Del Vecchio 1955-2018. ( 30901141 )
2019
28
Exploratory study of the reproducibility of the SCore for INtrinsic and EXtrinsic skin aging (SCINEXA) scale in "Ruta Escondida de la Mitad del Mundo", Ecuador, 2017. ( 30400871 )
2018
29
Factor X deficiency due to a compound heterozygosis between a new mutation (Gla72Asp) in exon 2 and an already known one (Gly154Arg) in exon 5: Factor X Mar del Plata 1). ( 30539705 )
2018
30
Interaction of H. pylori with toll-like receptor 2-196 to -174 ins/del polymorphism is associated with gastric cancer susceptibility in southern China. ( 30554285 )
2018
31
Hepatitis B virus in Mar del Plata, Argentina: Genomic characterization and evolutionary analysis of subgenotype F1b. ( 30570771 )
2018
32
Correction to: Lack of relationship between PTEN 32-bp and TP53 16-bp Ins/Del polymorphisms and chronic hepatitis B virus infection. ( 29608185 )
2018
33
Characterization of acute myeloid leukemia with del(9q) - Impact of the genes in the minimally deleted region. ( 30476680 )
2018
34
First Latin American clinical practice guidelines for the treatment of systemic lupus erythematosus: Latin American Group for the Study of Lupus (GLADEL, Grupo Latino Americano de Estudio del Lupus)-Pan-American League of Associations of Rheumatology (PANLAR). ( 30045853 )
2018
35
Targeting B-Cell Lymphoma 2: A Lethal Shortcut in Del(17p) Chronic Lymphocytic Leukemia. ( 29787358 )
2018
36
First case of nonalcoholic steatohepatitis in a child with del(1p36) and dup (Xp22): review of the literature. ( 29240610 )
2018
37
Comparative Study between the Use of Multidose Standard Cardioplegia and Long Acting Del Nido Cardioplegia during Intracardiac Repair for Tetralogy of Fallot in Pediatric Patients. ( 30141453 )
2018
38
NF-κB-94ins/del ATTG Genotype Contributes to the Susceptibility and Imbalanced Th17 Cells in Patients with Immune Thrombocytopenia. ( 30140708 )
2018
39
Association Between the Deletion Allele of Ins/Del Polymorphism (Rs145204276) in the Promoter Region of GAS5 with the Risk of Atherosclerosis. ( 30205366 )
2018
40
The impact of lenalidomide exposure on response and outcomes in patients with lower-risk myelodysplastic syndromes and del(5q). ( 30291223 )
2018
41
Clinical Benefit-Risk Profile of Lenalidomide in Patients With Lower-risk Myelodysplastic Syndromes Without del(5q): Results of a Phase III Trial. ( 30770308 )
2018
42
The Effect of Lenalidomide on Health-Related Quality of Life in Patients With Lower-Risk Non-del(5q) Myelodysplastic Syndromes: Results From the MDS-005 Study. ( 29429612 )
2018
43
Lenalidomide-mediated erythroid improvement in non-del(5q) myelodysplastic syndromes is associated with bone marrow immuno-remodeling. ( 28972593 )
2018
44
Safety profile of lenalidomide in patients with lower-risk myelodysplastic syndromes without del(5q): results of a phase 3 trial. ( 29322849 )
2018
45
A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family. ( 29866061 )
2018
46
The rhizosphere of the halophytic grass Sporobolus robustus Kunth hosts rhizobium genospecies that are efficient on Prosopis juliflora (Sw.) DC and Vachellia seyal (Del.) P.J.H. Hurter seedlings. ( 30384991 )
2018
47
Dopamine D2 -141C Ins/Del and Taq1A polymorphisms, body mass index, and prediction error brain response. ( 29795192 )
2018
48
The association between NFKB1 -94ATTG ins/del and NFKB1A 826C/T genetic variations and coronary artery disease risk. ( 29911119 )
2018
49
Factores personales que afectan la calidad de vida de mujeres con cáncer de mama del noreste de México: Personal factors that affect quality of life of women with breast cancer from the northeast of Mexico. ( 30012026 )
2018
50
Disminución de la fracción de expulsión del ventrículo izquierdo por estrés con adenosina como predictor de isquemia. ( 30047929 )
2018

Variations for Xp22.3 Microdeletion Syndrome

Expression for Xp22.3 Microdeletion Syndrome

Search GEO for disease gene expression data for Xp22.3 Microdeletion Syndrome.

Pathways for Xp22.3 Microdeletion Syndrome

GO Terms for Xp22.3 Microdeletion Syndrome

Sources for Xp22.3 Microdeletion Syndrome

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10 dbSNP
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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