MCID: XP2001
MIFTS: 22

Xp22.3 Microdeletion Syndrome

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, skin and endothelial, 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, Skin, Endothelial, B Cells, Testes, Bone Marrow, T Cells

Publications for Xp22.3 Microdeletion Syndrome

Articles related to Xp22.3 Microdeletion Syndrome:

(show top 50) (show all 2276)
# 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
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 )
2019
3
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
4
Association of NFKB1 -94ATTG ins/del polymorphism (rs28362491) with pemphigus vulgaris. ( 31077459 )
2019
5
Outcomes of Congenital Zika Virus Infection During an Outbreak in Valle del Cauca, Colombia. ( 30985517 )
2019
6
Lenalidomide and Prednisone in Low and Intermediate-1 IPSS Risk, Non-Del(5q) Patients With Myelodysplastic Syndromes: Phase 2 Clinical Trial. ( 30852241 )
2019
7
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 )
2019
8
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
9
Natural history of multiple myeloma with de novo del(17p). ( 30846679 )
2019
10
Letter in response to Del Brutto, axonal swelling and spheroids in Taenia solium neurocysticercosis. ( 30637848 )
2019
11
Del Nido Cardioplegia Should Be Used in All Adults Undergoing Cardiac Surgery: Con. ( 30852089 )
2019
12
Factores predictores del estado libre de cálculos en la primera ureteroscopia flexible con litotricia láser. ( 31056613 )
2019
13
Discurso del académico doctor Guillermo Fajardo Ortiz con motivo de la adición de su nombre al del Hospital General Regional 2 del Instituto Mexicano del Seguro Social. ( 31056614 )
2019
14
Salar del Hombre Muerto, source of lithium-tolerant bacteria. ( 29995192 )
2019
15
Comparison of Del Nido and Intermittent Warm Blood Cardioplegia in Coronary Artery Bypass Grafting Surgery. ( 30089762 )
2019
16
Stilbene biosynthesis and gene expression in response to methyl jasmonate and continuous light treatment in Vitis vinifera cv. Malvasia del Lazio and Vitis rupestris Du Lot cell cultures. ( 30091254 )
2019
17
Size and shape analysis of Trioza erytreae Del Guercio (Hemiptera: Triozidae), vector of citrus huanglongbing disease. ( 30123987 )
2019
18
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
19
DEL-1 promotes macrophage efferocytosis and clearance of inflammation. ( 30455459 )
2019
20
The contribution of the Clinica del Lavoro of Milan to the development of industrial hygiene and toxicology in the twentieth century. ( 30507356 )
2019
21
Utilization of Del Nido Cardioplegia in Adult Coronary Artery Bypass Grafting - A Retrospective Analysis. ( 30531128 )
2019
22
Arterial Resections During Pancreatectomy: In Reply to Del Chiaro and Schulick. ( 30580802 )
2019
23
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
24
The enhanced replication of an S-intact PEDV during coinfection with an S1 NTD-del PEDV in piglets. ( 30593369 )
2019
25
Vernonia Amygdalina Del. stimulated glucose uptake in brain tissues enhances antioxidative activities; and modulates functional chemistry and dysregulated metabolic pathways. ( 30607820 )
2019
26
Corruption and conflicts as barriers to adaptive governance: Water governance in dryland systems in the Rio del Carmen watershed. ( 30640119 )
2019
27
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
28
Psychiatric Home Hospitalization Unit of the Hospital del Mar. A crisis resolution and home treatment team in Barcelona. ( 30670368 )
2019
29
The Use of del Nido Cardioplegia for Myocardial Protection in Isolated Coronary Artery Bypass Surgery. ( 30723044 )
2019
30
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
31
DNA-Compatible [3 + 2] Nitrone-Olefin Cycloaddition Suitable for DEL Syntheses. ( 30762372 )
2019
32
Acute basophilic leukaemia secondary to MDS with isolated del(5q). ( 30864144 )
2019
33
DEL-1-Regulated Immune Plasticity and Inflammatory Disorders. ( 30885428 )
2019
34
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
35
Luigi Del Vecchio 1955-2018. ( 30901141 )
2019
36
Effects of RHD gene polymorphisms on distinguishing weak D or DEL from RhD- in blood donation in a Chinese population. ( 30950221 )
2019
37
Voces indígenas y sistemas de conocimiento: promover la salud del planeta, la equidad en salud y el desarrollo sostenible ahora y para las generaciones futuras. ( 30964408 )
2019
38
Genome-wide association studies for milk production traits in Valle del Belice sheep using repeated measures. ( 30983012 )
2019
39
The del Nido cardioplegia in adult cardiac surgery: reinventing myocardial protection? ( 30997223 )
2019
40
Does transfusion of Asian-type DEL red blood cells to D- recipients cause D alloimmunization? ( 31008519 )
2019
41
Genome-wide association study between CNVs and milk production traits in Valle del Belice sheep. ( 31013280 )
2019
42
Restoration of F508-del Function by Transcomplementation: The Partners Meet in the Endoplasmic Reticulum. ( 31026390 )
2019
43
Desafíos para la promoción de la salud: El caso del mercado de las Fórmulas Infantiles en México. ( 31033418 )
2019
44
Fermín Cubero del Castillo: A Story of Praiseworthy Perseverance and Hard Work. ( 31053238 )
2019
45
Sensory and functional quality characterization of protected designation of origin 'Piennolo del Vesuvio' cherry tomato landraces from Campania-Italy. ( 31054662 )
2019
46
Multi-criteria decision model for assessing groundwater pollution risk in the urban-rural interface of Mar del Plata City (Argentina). ( 31055661 )
2019
47
Mensaje de bienvenida del Centésimo Quincuagésimo Sexto Año Académico de la Academia Nacional de Medicina de México. ( 31056596 )
2019
48
Mantle flow and deep electrical anisotropy in a main gateway: MT study in Tierra del Fuego. ( 31073216 )
2019
49
The humanitarian legacy of Fe del Mundo (1911-2011) who shaped the modern child healthcare system in the Philippines. ( 31077455 )
2019
50
Technical-scientific investigations to detect the temporal vicissitudes of the funeral monument of Innocent VIII (Giovanbattista Cibo, 1484-1492), compared with that of Sixtus IV (Francesco della Rovere 1471-1484), both made by Antonio del Pollaiolo. ( 29614871 )
2019

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

3 CDC
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20 FMA
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46 MESH via Orphanet
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50 NCI
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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
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