Aliases & Classifications for Xp11.22 Deletion

MalaCards integrated aliases for Xp11.22 Deletion:

Name: Xp11.22 Deletion 76

Summaries for Xp11.22 Deletion

MalaCards based summary : Xp11.22 Deletion is related to dent disease 1 and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Xp11.22 Deletion is FAM120C (Family With Sequence Similarity 120C).

Related Diseases for Xp11.22 Deletion

Diseases related to Xp11.22 Deletion via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dent disease 1 9.9
2 alacrima, achalasia, and mental retardation syndrome 9.9
3 syndromic x-linked intellectual disability 9.9
4 autism 9.9

Symptoms & Phenotypes for Xp11.22 Deletion

Drugs & Therapeutics for Xp11.22 Deletion

Search Clinical Trials , NIH Clinical Center for Xp11.22 Deletion

Genetic Tests for Xp11.22 Deletion

Anatomical Context for Xp11.22 Deletion

Publications for Xp11.22 Deletion

Articles related to Xp11.22 Deletion:

# Title Authors Year
1
Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. ( 28414775 )
2017
2
Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease. ( 25670966 )
2015
3
A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism. ( 25258334 )
2014

Variations for Xp11.22 Deletion

Expression for Xp11.22 Deletion

Search GEO for disease gene expression data for Xp11.22 Deletion.

Pathways for Xp11.22 Deletion

GO Terms for Xp11.22 Deletion

Sources for Xp11.22 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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