MCID: CHR460
MIFTS: 7

Chromosome Xq Deletion

Categories: Rare diseases

Aliases & Classifications for Chromosome Xq Deletion

MalaCards integrated aliases for Chromosome Xq Deletion:

Name: Chromosome Xq Deletion 53
Partial Monosomy Xq 53
Monosomy Xq 53
Xq Deletion 53
Xq Monosomy 53

Classifications:



Summaries for Chromosome Xq Deletion

MalaCards based summary : Chromosome Xq Deletion, also known as partial monosomy xq, is related to premature ovarian failure 1 and epilepsy.

Related Diseases for Chromosome Xq Deletion

Diseases related to Chromosome Xq Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 premature ovarian failure 1 10.2
2 epilepsy 10.1
3 focal epilepsy 10.1

Symptoms & Phenotypes for Chromosome Xq Deletion

Drugs & Therapeutics for Chromosome Xq Deletion

Search Clinical Trials , NIH Clinical Center for Chromosome Xq Deletion

Genetic Tests for Chromosome Xq Deletion

Anatomical Context for Chromosome Xq Deletion

Publications for Chromosome Xq Deletion

Articles related to Chromosome Xq Deletion:

# Title Authors Year
1
Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features. ( 18166284 )
2008

Variations for Chromosome Xq Deletion

Expression for Chromosome Xq Deletion

Search GEO for disease gene expression data for Chromosome Xq Deletion.

Pathways for Chromosome Xq Deletion

GO Terms for Chromosome Xq Deletion

Sources for Chromosome Xq Deletion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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