DEL
MCID: XP2001
MIFTS: 17

Xp22.3 Microdeletion Syndrome (DEL)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Xp22.3 Microdeletion Syndrome

MalaCards integrated aliases for Xp22.3 Microdeletion Syndrome:

Name: Xp22.3 Microdeletion Syndrome 52 58
Del 52 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q99.8
Orphanet 58 ORPHA1643

Summaries for Xp22.3 Microdeletion Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1643 Definition Xp22.3 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, eye and ovary, 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:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 secondary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000869
3 abnormality of chromosome segregation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002916
4 opacification of the corneal stroma 58 31 frequent (33%) Frequent (79-30%) HP:0007759
5 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
6 hypogonadotrophic hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000044
7 polycystic ovaries 58 31 frequent (33%) Frequent (79-30%) HP:0000147
8 aplasia/hypoplasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008065
9 decreased fertility 58 31 frequent (33%) Frequent (79-30%) HP:0000144
10 aplasia/hypoplasia affecting the eye 58 31 frequent (33%) Frequent (79-30%) HP:0008056
11 sacral dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0000960
12 ectopic anus 58 31 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:

40
Skin, Eye, Ovary, 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. 61
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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