DEL
MCID: XP2001
MIFTS: 15

Xp22.3 Microdeletion Syndrome (DEL)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Xp22.3 Microdeletion Syndrome

Summaries for Xp22.3 Microdeletion Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1643DefinitionXp22.3 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 skin, ovary and eye, 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 ventricular septal defect 10.1
4 cataract 10.1

Symptoms & Phenotypes for Xp22.3 Microdeletion Syndrome

Human phenotypes related to Xp22.3 Microdeletion Syndrome:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 secondary amenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000869
3 abnormality of chromosome segregation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002916
4 opacification of the corneal stroma 59 32 frequent (33%) Frequent (79-30%) HP:0007759
5 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
6 hypogonadotrophic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000044
7 polycystic ovaries 59 32 frequent (33%) Frequent (79-30%) HP:0000147
8 aplasia/hypoplasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008065
9 decreased fertility 59 32 frequent (33%) Frequent (79-30%) HP:0000144
10 aplasia/hypoplasia affecting the eye 59 32 frequent (33%) Frequent (79-30%) HP:0008056
11 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960
12 ectopic anus 59 32 occasional (7.5%) Occasional (29-5%) 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:

41
Skin, Ovary, Eye, Heart

Publications for Xp22.3 Microdeletion Syndrome

Articles related to Xp22.3 Microdeletion Syndrome:

# Title Authors PMID Year
1
Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects. 38
1519653 1992

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....