MCID: CHR611
MIFTS: 12

Chromosome 11p13 Deletion Syndrome, Distal

Aliases & Classifications for Chromosome 11p13 Deletion Syndrome, Distal

MalaCards integrated aliases for Chromosome 11p13 Deletion Syndrome, Distal:

Name: Chromosome 11p13 Deletion Syndrome, Distal 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
contiguous gene deletion syndrome


HPO:

31
chromosome 11p13 deletion syndrome, distal:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Summaries for Chromosome 11p13 Deletion Syndrome, Distal

MalaCards based summary : Chromosome 11p13 Deletion Syndrome, Distal and has symptoms including seizures, intellectual disability and global developmental delay. An important gene associated with Chromosome 11p13 Deletion Syndrome, Distal is DEL11P13 (Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome). Affiliated tissues include eye.

Description from OMIM: 616902

Related Diseases for Chromosome 11p13 Deletion Syndrome, Distal

Symptoms & Phenotypes for Chromosome 11p13 Deletion Syndrome, Distal

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
aniridia (in some patients)
congenital eye malformations (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autism

Neurologic Central Nervous System:
developmental delay
intellectual disability
speech and language delay


Clinical features from OMIM:

616902

Human phenotypes related to Chromosome 11p13 Deletion Syndrome, Distal:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 delayed speech and language development 31 HP:0000750
5 autism 31 HP:0000717
6 aniridia 31 occasional (7.5%) HP:0000526
7 language impairment 31 HP:0002463

Drugs & Therapeutics for Chromosome 11p13 Deletion Syndrome, Distal

Search Clinical Trials , NIH Clinical Center for Chromosome 11p13 Deletion Syndrome, Distal

Genetic Tests for Chromosome 11p13 Deletion Syndrome, Distal

Anatomical Context for Chromosome 11p13 Deletion Syndrome, Distal

MalaCards organs/tissues related to Chromosome 11p13 Deletion Syndrome, Distal:

38
Eye

Publications for Chromosome 11p13 Deletion Syndrome, Distal

Variations for Chromosome 11p13 Deletion Syndrome, Distal

Expression for Chromosome 11p13 Deletion Syndrome, Distal

Search GEO for disease gene expression data for Chromosome 11p13 Deletion Syndrome, Distal.

Pathways for Chromosome 11p13 Deletion Syndrome, Distal

GO Terms for Chromosome 11p13 Deletion Syndrome, Distal

Sources for Chromosome 11p13 Deletion Syndrome, Distal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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